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A repository for genes associated with endometriosis

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Gene id 581
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol BAX   Gene   UCSC   Ensembl
Aliases BCL2L4
Gene name BCL2 associated X, apoptosis regulator
Alternate names apoptosis regulator BAX, BCL2 associated X protein, BCL2-associated X protein omega, Baxdelta2G9, Baxdelta2G9omega, Baxdelta2omega, bcl-2-like protein 4, bcl2-L-4,
Gene location 19q13.33 (48954824: 48961797)     Exons: 7     NC_000019.10
Gene summary(Entrez) The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. This protein forms a heterodimer with BCL2, and functions as an apoptotic activator. This protein is reported to interact with, and increase the opening of, the mitochondrial voltage-dependent anion channel (VDAC), which leads to the loss in membrane potential and the release of cytochrome c. The expression of this gene is regulated by the tumor suppressor P53 and has been shown to be involved in P53-mediated apoptosis. Multiple alternatively spliced transcript variants, which encode different isoforms, have been reported for this gene. [provided by RefSeq, Jul 2008]
OMIM 600040

Protein Summary

Protein general information Q07812  

Name: Apoptosis regulator BAX (Bcl 2 like protein 4) (Bcl2 L 4)

Length: 192  Mass: 21,184

Tissue specificity: Expressed in a wide variety of tissues. Isoform Psi is found in glial tumors. Isoform Alpha is expressed in spleen, breast, ovary, testis, colon and brain, and at low levels in skin and lung. Isoform Sigma is expressed in spleen, breas

Sequence MDGSGEQPRGGGPTSSEQIMKTGALLLQGFIQDRAGRMGGEAPELALDPVPQDASTKKLSECLKRIGDELDSNME
LQRMIAAVDTDSPREVFFRVAADMFSDGNFNWGRVVALFYFASKLVLKALCTKVPELIRTIMGWTLDFLRERLLG
WIQDQGGWDGLLSYFGTPTWQTVTIFVAGVLTASLTIWKKMG
Structural information

Motifs
BH3 (59-73)
BH1 (98-118)
BH2. (150-165)
Interpro:  IPR026304 IPR002475 IPR020717 IPR020726 IPR020728 IPR026298
Prosite:   PS50062 PS01080 PS01258 PS01259

Pfam:  
PF00452

PDB:  
1F16 2G5B 2K7W 2LR1 3PK1 3PL7 4BD2 4BD6 4BD7 4BD8 4BDU 4S0O 4S0P 4UF2 4ZIE 4ZIF 4ZIG 4ZIH 4ZII
PDBsum:   1F16 2G5B 2K7W 2LR1 3PK1 3PL7 4BD2 4BD6 4BD7 4BD8 4BDU 4S0O 4S0P 4UF2 4ZIE 4ZIF 4ZIG 4ZIH 4ZII

DIP:  
232
MINT:   134330
STRING:   ENSP00000293288;
Other Databases GeneCards:  BAX;  Malacards:  BAX

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0001541 ovarian follicle developm
ent
IEA biological_process
GO:0001764 neuron migration
IEA biological_process
GO:0001777 T cell homeostatic prolif
eration
IEA biological_process
GO:0001782 B cell homeostasis
IEA biological_process
GO:0001783 B cell apoptotic process
IDA biological_process
GO:0001783 B cell apoptotic process
IDA biological_process
GO:0001822 kidney development
IEA biological_process
GO:0001836 release of cytochrome c f
rom mitochondria
IDA biological_process
GO:0001836 release of cytochrome c f
rom mitochondria
IDA biological_process
GO:0001836 release of cytochrome c f
rom mitochondria
IDA biological_process
GO:0001844 protein insertion into mi
tochondrial membrane invo
lved in apoptotic signali
ng pathway
TAS biological_process
GO:0001974 blood vessel remodeling
IEA biological_process
GO:0002262 myeloid cell homeostasis
IEA biological_process
GO:0002352 B cell negative selection
IEA biological_process
GO:0002358 B cell homeostatic prolif
eration
IEA biological_process
GO:0002904 positive regulation of B
cell apoptotic process
IEA biological_process
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005634 nucleus
IDA cellular_component
GO:0005634 nucleus
IMP cellular_component
GO:0005635 nuclear envelope
IDA cellular_component
GO:0005739 mitochondrion
IDA cellular_component
GO:0005739 mitochondrion
IDA cellular_component
GO:0005739 mitochondrion
IDA cellular_component
GO:0005739 mitochondrion
IDA cellular_component
GO:0005739 mitochondrion
IDA cellular_component
GO:0005741 mitochondrial outer membr
ane
IBA cellular_component
GO:0005741 mitochondrial outer membr
ane
TAS cellular_component
GO:0005741 mitochondrial outer membr
ane
TAS cellular_component
GO:0005757 mitochondrial permeabilit
y transition pore complex
IDA cellular_component
GO:0005783 endoplasmic reticulum
IDA cellular_component
GO:0005789 endoplasmic reticulum mem
brane
IDA cellular_component
GO:0005829 cytosol
IDA cellular_component
GO:0005829 cytosol
IDA cellular_component
GO:0005829 cytosol
IDA cellular_component
GO:0005829 cytosol
IDA cellular_component
GO:0005829 cytosol
IDA cellular_component
GO:0005829 cytosol
IDA cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0006687 glycosphingolipid metabol
ic process
IEA biological_process
GO:0006808 regulation of nitrogen ut
ilization
IEA biological_process
GO:0006915 apoptotic process
IMP biological_process
GO:0006915 apoptotic process
IDA biological_process
GO:0006915 apoptotic process
NAS biological_process
GO:0006919 activation of cysteine-ty
pe endopeptidase activity
involved in apoptotic pr
ocess
IMP biological_process
GO:0006919 activation of cysteine-ty
pe endopeptidase activity
involved in apoptotic pr
ocess
IDA biological_process
GO:0006977 DNA damage response, sign
al transduction by p53 cl
ass mediator resulting in
cell cycle arrest
TAS biological_process
GO:0006987 activation of signaling p
rotein activity involved
in unfolded protein respo
nse
TAS biological_process
GO:0007007 inner mitochondrial membr
ane organization
IEA biological_process
GO:0007008 outer mitochondrial membr
ane organization
IEA biological_process
GO:0007281 germ cell development
IEA biological_process
GO:0007568 aging
IEA biological_process
GO:0008053 mitochondrial fusion
IDA biological_process
GO:0008289 lipid binding
IDA molecular_function
GO:0008625 extrinsic apoptotic signa
ling pathway via death do
main receptors
IC biological_process
GO:0008630 intrinsic apoptotic signa
ling pathway in response
to DNA damage
IBA biological_process
GO:0008635 activation of cysteine-ty
pe endopeptidase activity
involved in apoptotic pr
ocess by cytochrome c
IDA biological_process
GO:0008637 apoptotic mitochondrial c
hanges
IDA biological_process
GO:0009566 fertilization
IEA biological_process
GO:0009636 response to toxic substan
ce
IDA biological_process
GO:0009651 response to salt stress
IEA biological_process
GO:0010248 establishment or maintena
nce of transmembrane elec
trochemical gradient
IDA biological_process
GO:0010332 response to gamma radiati
on
IEA biological_process
GO:0015267 channel activity
IDA molecular_function
GO:0016020 membrane
IDA cellular_component
GO:0016032 viral process
IEA biological_process
GO:0021854 hypothalamus development
IEA biological_process
GO:0021987 cerebral cortex developme
nt
IEA biological_process
GO:0031072 heat shock protein bindin
g
IEA molecular_function
GO:0032091 negative regulation of pr
otein binding
IDA biological_process
GO:0032403 protein complex binding
IEA molecular_function
GO:0032461 positive regulation of pr
otein oligomerization
IDA biological_process
GO:0032469 endoplasmic reticulum cal
cium ion homeostasis
TAS biological_process
GO:0032471 negative regulation of en
doplasmic reticulum calci
um ion concentration
IEA biological_process
GO:0032976 release of matrix enzymes
from mitochondria
IDA biological_process
GO:0033137 negative regulation of pe
ptidyl-serine phosphoryla
tion
IEA biological_process
GO:0033599 regulation of mammary gla
nd epithelial cell prolif
eration
IEA biological_process
GO:0034349 glial cell apoptotic proc
ess
IEA biological_process
GO:0034644 cellular response to UV
IEA biological_process
GO:0035234 ectopic germ cell program
med cell death
IEA biological_process
GO:0042220 response to cocaine
IEA biological_process
GO:0042475 odontogenesis of dentin-c
ontaining tooth
IEA biological_process
GO:0042493 response to drug
IEA biological_process
GO:0042802 identical protein binding
IPI molecular_function
GO:0042802 identical protein binding
IPI molecular_function
GO:0042802 identical protein binding
IPI molecular_function
GO:0042802 identical protein binding
IPI molecular_function
GO:0042802 identical protein binding
IPI molecular_function
GO:0042802 identical protein binding
IPI molecular_function
GO:0042802 identical protein binding
IPI molecular_function
GO:0042802 identical protein binding
IPI molecular_function
GO:0042802 identical protein binding
IPI molecular_function
GO:0042802 identical protein binding
IPI molecular_function
GO:0042802 identical protein binding
IPI molecular_function
GO:0042802 identical protein binding
IPI molecular_function
GO:0042802 identical protein binding
IPI molecular_function
GO:0042803 protein homodimerization
activity
IDA molecular_function
GO:0042803 protein homodimerization
activity
IPI molecular_function
GO:0042981 regulation of apoptotic p
rocess
TAS biological_process
GO:0043065 positive regulation of ap
optotic process
IMP biological_process
GO:0043496 regulation of protein hom
odimerization activity
IDA biological_process
GO:0043497 regulation of protein het
erodimerization activity
IPI biological_process
GO:0043524 negative regulation of ne
uron apoptotic process
IEA biological_process
GO:0043525 positive regulation of ne
uron apoptotic process
IDA biological_process
GO:0043653 mitochondrial fragmentati
on involved in apoptotic
process
IDA biological_process
GO:0045136 development of secondary
sexual characteristics
IEA biological_process
GO:0045333 cellular respiration
IEA biological_process
GO:0046666 retinal cell programmed c
ell death
IEA biological_process
GO:0046688 response to copper ion
IEA biological_process
GO:0046930 pore complex
IDA cellular_component
GO:0046982 protein heterodimerizatio
n activity
IPI molecular_function
GO:0048087 positive regulation of de
velopmental pigmentation
IEA biological_process
GO:0048147 negative regulation of fi
broblast proliferation
IEA biological_process
GO:0048471 perinuclear region of cyt
oplasm
IEA cellular_component
GO:0048515 spermatid differentiation
IEA biological_process
GO:0048597 post-embryonic camera-typ
e eye morphogenesis
IEA biological_process
GO:0048678 response to axon injury
IEA biological_process
GO:0048873 homeostasis of number of
cells within a tissue
IEA biological_process
GO:0051087 chaperone binding
IEA molecular_function
GO:0051259 protein oligomerization
IDA biological_process
GO:0051260 protein homooligomerizati
on
IDA biological_process
GO:0051260 protein homooligomerizati
on
IDA biological_process
GO:0051281 positive regulation of re
lease of sequestered calc
ium ion into cytosol
IEA biological_process
GO:0051402 neuron apoptotic process
IEA biological_process
GO:0051412 response to corticosteron
e
IEA biological_process
GO:0051434 BH3 domain binding
IPI molecular_function
GO:0051434 BH3 domain binding
IPI molecular_function
GO:0051434 BH3 domain binding
IDA molecular_function
GO:0051881 regulation of mitochondri
al membrane potential
IDA biological_process
GO:0060011 Sertoli cell proliferatio
n
IEA biological_process
GO:0060041 retina development in cam
era-type eye
IEA biological_process
GO:0060058 positive regulation of ap
optotic process involved
in mammary gland involuti
on
IEA biological_process
GO:0060068 vagina development
IEA biological_process
GO:0070059 intrinsic apoptotic signa
ling pathway in response
to endoplasmic reticulum
stress
IMP biological_process
GO:0070059 intrinsic apoptotic signa
ling pathway in response
to endoplasmic reticulum
stress
TAS biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070242 thymocyte apoptotic proce
ss
IEA biological_process
GO:0070584 mitochondrion morphogenes
is
IEA biological_process
GO:0072332 intrinsic apoptotic signa
ling pathway by p53 class
mediator
IEA biological_process
GO:0090200 positive regulation of re
lease of cytochrome c fro
m mitochondria
IDA biological_process
GO:0097136 Bcl-2 family protein comp
lex
IDA cellular_component
GO:0097144 BAX complex
IDA cellular_component
GO:0097190 apoptotic signaling pathw
ay
IDA biological_process
GO:0097191 extrinsic apoptotic signa
ling pathway
IDA biological_process
GO:0097192 extrinsic apoptotic signa
ling pathway in absence o
f ligand
IBA biological_process
GO:0097193 intrinsic apoptotic signa
ling pathway
IDA biological_process
GO:0097193 intrinsic apoptotic signa
ling pathway
IDA biological_process
GO:0097296 activation of cysteine-ty
pe endopeptidase activity
involved in apoptotic si
gnaling pathway
IEA biological_process
GO:1900103 positive regulation of en
doplasmic reticulum unfol
ded protein response
IMP biological_process
GO:1901030 positive regulation of mi
tochondrial outer membran
e permeabilization involv
ed in apoptotic signaling
pathway
TAS biological_process
GO:1902262 apoptotic process involve
d in blood vessel morphog
enesis
IEA biological_process
GO:1902263 apoptotic process involve
d in embryonic digit morp
hogenesis
IEA biological_process
GO:1902445 regulation of mitochondri
al membrane permeability
involved in programmed ne
crotic cell death
IEA biological_process
GO:1902512 positive regulation of ap
optotic DNA fragmentation
IMP biological_process
GO:1903896 positive regulation of IR
E1-mediated unfolded prot
ein response
TAS biological_process
GO:1990117 B cell receptor apoptotic
signaling pathway
IDA biological_process
GO:2001234 negative regulation of ap
optotic signaling pathway
IEA biological_process
GO:2001241 positive regulation of ex
trinsic apoptotic signali
ng pathway in absence of
ligand
IEA biological_process
GO:2001244 positive regulation of in
trinsic apoptotic signali
ng pathway
IMP biological_process
GO:2001244 positive regulation of in
trinsic apoptotic signali
ng pathway
IMP biological_process
GO:0001541 ovarian follicle developm
ent
IEA biological_process
GO:0001764 neuron migration
IEA biological_process
GO:0001776 leukocyte homeostasis
IEA biological_process
GO:0001777 T cell homeostatic prolif
eration
IEA biological_process
GO:0001782 B cell homeostasis
IEA biological_process
GO:0001783 B cell apoptotic process
IEA biological_process
GO:0001783 B cell apoptotic process
IDA biological_process
GO:0001783 B cell apoptotic process
IDA biological_process
GO:0001822 kidney development
IEA biological_process
GO:0001836 release of cytochrome c f
rom mitochondria
IEA biological_process
GO:0001836 release of cytochrome c f
rom mitochondria
IDA biological_process
GO:0001836 release of cytochrome c f
rom mitochondria
IDA biological_process
GO:0001836 release of cytochrome c f
rom mitochondria
IDA biological_process
GO:0001844 protein insertion into mi
tochondrial membrane invo
lved in apoptotic signali
ng pathway
IEA biological_process
GO:0001844 protein insertion into mi
tochondrial membrane invo
lved in apoptotic signali
ng pathway
TAS biological_process
GO:0001974 blood vessel remodeling
IEA biological_process
GO:0002262 myeloid cell homeostasis
IEA biological_process
GO:0002352 B cell negative selection
IEA biological_process
GO:0002358 B cell homeostatic prolif
eration
IEA biological_process
GO:0002904 positive regulation of B
cell apoptotic process
IEA biological_process
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005622 intracellular
IEA cellular_component
GO:0005634 nucleus
IDA cellular_component
GO:0005634 nucleus
IMP cellular_component
GO:0005635 nuclear envelope
IDA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005739 mitochondrion
IEA cellular_component
GO:0005739 mitochondrion
IEA cellular_component
GO:0005739 mitochondrion
IDA cellular_component
GO:0005739 mitochondrion
IDA cellular_component
GO:0005739 mitochondrion
IDA cellular_component
GO:0005739 mitochondrion
IDA cellular_component
GO:0005739 mitochondrion
IDA cellular_component
GO:0005741 mitochondrial outer membr
ane
IEA cellular_component
GO:0005741 mitochondrial outer membr
ane
IBA cellular_component
GO:0005741 mitochondrial outer membr
ane
TAS cellular_component
GO:0005741 mitochondrial outer membr
ane
TAS cellular_component
GO:0005757 mitochondrial permeabilit
y transition pore complex
IDA cellular_component
GO:0005783 endoplasmic reticulum
IEA cellular_component
GO:0005783 endoplasmic reticulum
IDA cellular_component
GO:0005789 endoplasmic reticulum mem
brane
IDA cellular_component
GO:0005829 cytosol
IEA cellular_component
GO:0005829 cytosol
IDA cellular_component
GO:0005829 cytosol
IDA cellular_component
GO:0005829 cytosol
IDA cellular_component
GO:0005829 cytosol
IDA cellular_component
GO:0005829 cytosol
IDA cellular_component
GO:0005829 cytosol
IDA cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0006687 glycosphingolipid metabol
ic process
IEA biological_process
GO:0006808 regulation of nitrogen ut
ilization
IEA biological_process
GO:0006915 apoptotic process
IEA biological_process
GO:0006915 apoptotic process
IEA biological_process
GO:0006915 apoptotic process
IMP biological_process
GO:0006915 apoptotic process
IDA biological_process
GO:0006915 apoptotic process
NAS biological_process
GO:0006919 activation of cysteine-ty
pe endopeptidase activity
involved in apoptotic pr
ocess
IEA biological_process
GO:0006919 activation of cysteine-ty
pe endopeptidase activity
involved in apoptotic pr
ocess
IMP biological_process
GO:0006919 activation of cysteine-ty
pe endopeptidase activity
involved in apoptotic pr
ocess
IDA biological_process
GO:0006974 cellular response to DNA
damage stimulus
IEA biological_process
GO:0006977 DNA damage response, sign
al transduction by p53 cl
ass mediator resulting in
cell cycle arrest
TAS biological_process
GO:0006987 activation of signaling p
rotein activity involved
in unfolded protein respo
nse
TAS biological_process
GO:0007007 inner mitochondrial membr
ane organization
IEA biological_process
GO:0007008 outer mitochondrial membr
ane organization
IEA biological_process
GO:0007281 germ cell development
IEA biological_process
GO:0007283 spermatogenesis
IEA biological_process
GO:0007399 nervous system developmen
t
IEA biological_process
GO:0007420 brain development
IEA biological_process
GO:0007548 sex differentiation
IEA biological_process
GO:0007568 aging
IEA biological_process
GO:0008053 mitochondrial fusion
IEA biological_process
GO:0008053 mitochondrial fusion
IDA biological_process
GO:0008283 cell proliferation
IEA biological_process
GO:0008285 negative regulation of ce
ll proliferation
IEA biological_process
GO:0008289 lipid binding
IDA molecular_function
GO:0008584 male gonad development
IEA biological_process
GO:0008625 extrinsic apoptotic signa
ling pathway via death do
main receptors
IEA biological_process
GO:0008625 extrinsic apoptotic signa
ling pathway via death do
main receptors
IC biological_process
GO:0008630 intrinsic apoptotic signa
ling pathway in response
to DNA damage
IEA biological_process
GO:0008630 intrinsic apoptotic signa
ling pathway in response
to DNA damage
IBA biological_process
GO:0008635 activation of cysteine-ty
pe endopeptidase activity
involved in apoptotic pr
ocess by cytochrome c
IEA biological_process
GO:0008635 activation of cysteine-ty
pe endopeptidase activity
involved in apoptotic pr
ocess by cytochrome c
IDA biological_process
GO:0008637 apoptotic mitochondrial c
hanges
IEA biological_process
GO:0008637 apoptotic mitochondrial c
hanges
IDA biological_process
GO:0009566 fertilization
IEA biological_process
GO:0009611 response to wounding
IEA biological_process
GO:0009636 response to toxic substan
ce
IEA biological_process
GO:0009636 response to toxic substan
ce
IDA biological_process
GO:0009651 response to salt stress
IEA biological_process
GO:0009791 post-embryonic developmen
t
IEA biological_process
GO:0010212 response to ionizing radi
ation
IEA biological_process
GO:0010248 establishment or maintena
nce of transmembrane elec
trochemical gradient
IDA biological_process
GO:0010332 response to gamma radiati
on
IEA biological_process
GO:0010524 positive regulation of ca
lcium ion transport into
cytosol
IEA biological_process
GO:0015267 channel activity
IDA molecular_function
GO:0016020 membrane
IEA cellular_component
GO:0016020 membrane
IDA cellular_component
GO:0016021 integral component of mem
brane
IEA cellular_component
GO:0016032 viral process
IEA biological_process
GO:0021854 hypothalamus development
IEA biological_process
GO:0021987 cerebral cortex developme
nt
IEA biological_process
GO:0031072 heat shock protein bindin
g
IEA molecular_function
GO:0031966 mitochondrial membrane
IEA cellular_component
GO:0031966 mitochondrial membrane
IEA cellular_component
GO:0032091 negative regulation of pr
otein binding
IDA biological_process
GO:0032403 protein complex binding
IEA molecular_function
GO:0032461 positive regulation of pr
otein oligomerization
IDA biological_process
GO:0032469 endoplasmic reticulum cal
cium ion homeostasis
TAS biological_process
GO:0032471 negative regulation of en
doplasmic reticulum calci
um ion concentration
IEA biological_process
GO:0032976 release of matrix enzymes
from mitochondria
IDA biological_process
GO:0033137 negative regulation of pe
ptidyl-serine phosphoryla
tion
IEA biological_process
GO:0033599 regulation of mammary gla
nd epithelial cell prolif
eration
IEA biological_process
GO:0034349 glial cell apoptotic proc
ess
IEA biological_process
GO:0034644 cellular response to UV
IEA biological_process
GO:0035108 limb morphogenesis
IEA biological_process
GO:0035234 ectopic germ cell program
med cell death
IEA biological_process
GO:0042220 response to cocaine
IEA biological_process
GO:0042475 odontogenesis of dentin-c
ontaining tooth
IEA biological_process
GO:0042493 response to drug
IEA biological_process
GO:0042802 identical protein binding
IPI molecular_function
GO:0042802 identical protein binding
IPI molecular_function
GO:0042802 identical protein binding
IPI molecular_function
GO:0042802 identical protein binding
IPI molecular_function
GO:0042802 identical protein binding
IPI molecular_function
GO:0042802 identical protein binding
IPI molecular_function
GO:0042802 identical protein binding
IPI molecular_function
GO:0042802 identical protein binding
IPI molecular_function
GO:0042802 identical protein binding
IPI molecular_function
GO:0042802 identical protein binding
IPI molecular_function
GO:0042802 identical protein binding
IPI molecular_function
GO:0042802 identical protein binding
IPI molecular_function
GO:0042802 identical protein binding
IPI molecular_function
GO:0042803 protein homodimerization
activity
IEA molecular_function
GO:0042803 protein homodimerization
activity
IDA molecular_function
GO:0042803 protein homodimerization
activity
IPI molecular_function
GO:0042981 regulation of apoptotic p
rocess
IEA biological_process
GO:0042981 regulation of apoptotic p
rocess
TAS biological_process
GO:0043065 positive regulation of ap
optotic process
IEA biological_process
GO:0043065 positive regulation of ap
optotic process
IEA biological_process
GO:0043065 positive regulation of ap
optotic process
IMP biological_process
GO:0043281 regulation of cysteine-ty
pe endopeptidase activity
involved in apoptotic pr
ocess
IEA biological_process
GO:0043496 regulation of protein hom
odimerization activity
IDA biological_process
GO:0043497 regulation of protein het
erodimerization activity
IPI biological_process
GO:0043523 regulation of neuron apop
totic process
IEA biological_process
GO:0043524 negative regulation of ne
uron apoptotic process
IEA biological_process
GO:0043525 positive regulation of ne
uron apoptotic process
IEA biological_process
GO:0043525 positive regulation of ne
uron apoptotic process
IDA biological_process
GO:0043653 mitochondrial fragmentati
on involved in apoptotic
process
IDA biological_process
GO:0045136 development of secondary
sexual characteristics
IEA biological_process
GO:0045333 cellular respiration
IEA biological_process
GO:0046666 retinal cell programmed c
ell death
IEA biological_process
GO:0046688 response to copper ion
IEA biological_process
GO:0046930 pore complex
IDA cellular_component
GO:0046982 protein heterodimerizatio
n activity
IEA molecular_function
GO:0046982 protein heterodimerizatio
n activity
IPI molecular_function
GO:0048087 positive regulation of de
velopmental pigmentation
IEA biological_process
GO:0048147 negative regulation of fi
broblast proliferation
IEA biological_process
GO:0048471 perinuclear region of cyt
oplasm
IEA cellular_component
GO:0048515 spermatid differentiation
IEA biological_process
GO:0048597 post-embryonic camera-typ
e eye morphogenesis
IEA biological_process
GO:0048678 response to axon injury
IEA biological_process
GO:0048872 homeostasis of number of
cells
IEA biological_process
GO:0048873 homeostasis of number of
cells within a tissue
IEA biological_process
GO:0051087 chaperone binding
IEA molecular_function
GO:0051259 protein oligomerization
IDA biological_process
GO:0051260 protein homooligomerizati
on
IEA biological_process
GO:0051260 protein homooligomerizati
on
IDA biological_process
GO:0051260 protein homooligomerizati
on
IDA biological_process
GO:0051281 positive regulation of re
lease of sequestered calc
ium ion into cytosol
IEA biological_process
GO:0051400 BH domain binding
IEA molecular_function
GO:0051402 neuron apoptotic process
IEA biological_process
GO:0051412 response to corticosteron
e
IEA biological_process
GO:0051434 BH3 domain binding
IPI molecular_function
GO:0051434 BH3 domain binding
IPI molecular_function
GO:0051434 BH3 domain binding
IDA molecular_function
GO:0051726 regulation of cell cycle
IEA biological_process
GO:0051881 regulation of mitochondri
al membrane potential
IDA biological_process
GO:0060011 Sertoli cell proliferatio
n
IEA biological_process
GO:0060041 retina development in cam
era-type eye
IEA biological_process
GO:0060058 positive regulation of ap
optotic process involved
in mammary gland involuti
on
IEA biological_process
GO:0060068 vagina development
IEA biological_process
GO:0070059 intrinsic apoptotic signa
ling pathway in response
to endoplasmic reticulum
stress
IEA biological_process
GO:0070059 intrinsic apoptotic signa
ling pathway in response
to endoplasmic reticulum
stress
IMP biological_process
GO:0070059 intrinsic apoptotic signa
ling pathway in response
to endoplasmic reticulum
stress
TAS biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070242 thymocyte apoptotic proce
ss
IEA biological_process
GO:0070584 mitochondrion morphogenes
is
IEA biological_process
GO:0071310 cellular response to orga
nic substance
IEA biological_process
GO:0072332 intrinsic apoptotic signa
ling pathway by p53 class
mediator
IEA biological_process
GO:0090200 positive regulation of re
lease of cytochrome c fro
m mitochondria
IDA biological_process
GO:0097136 Bcl-2 family protein comp
lex
IDA cellular_component
GO:0097144 BAX complex
IEA cellular_component
GO:0097144 BAX complex
IDA cellular_component
GO:0097190 apoptotic signaling pathw
ay
IEA biological_process
GO:0097190 apoptotic signaling pathw
ay
IDA biological_process
GO:0097191 extrinsic apoptotic signa
ling pathway
IDA biological_process
GO:0097192 extrinsic apoptotic signa
ling pathway in absence o
f ligand
IEA biological_process
GO:0097192 extrinsic apoptotic signa
ling pathway in absence o
f ligand
IBA biological_process
GO:0097193 intrinsic apoptotic signa
ling pathway
IDA biological_process
GO:0097193 intrinsic apoptotic signa
ling pathway
IDA biological_process
GO:0097296 activation of cysteine-ty
pe endopeptidase activity
involved in apoptotic si
gnaling pathway
IEA biological_process
GO:1900103 positive regulation of en
doplasmic reticulum unfol
ded protein response
IMP biological_process
GO:1901030 positive regulation of mi
tochondrial outer membran
e permeabilization involv
ed in apoptotic signaling
pathway
TAS biological_process
GO:1902108 regulation of mitochondri
al membrane permeability
involved in apoptotic pro
cess
IEA biological_process
GO:1902110 positive regulation of mi
tochondrial membrane perm
eability involved in apop
totic process
IEA biological_process
GO:1902262 apoptotic process involve
d in blood vessel morphog
enesis
IEA biological_process
GO:1902263 apoptotic process involve
d in embryonic digit morp
hogenesis
IEA biological_process
GO:1902445 regulation of mitochondri
al membrane permeability
involved in programmed ne
crotic cell death
IEA biological_process
GO:1902512 positive regulation of ap
optotic DNA fragmentation
IMP biological_process
GO:1903896 positive regulation of IR
E1-mediated unfolded prot
ein response
TAS biological_process
GO:1990117 B cell receptor apoptotic
signaling pathway
IDA biological_process
GO:2001234 negative regulation of ap
optotic signaling pathway
IEA biological_process
GO:2001241 positive regulation of ex
trinsic apoptotic signali
ng pathway in absence of
ligand
IEA biological_process
GO:2001244 positive regulation of in
trinsic apoptotic signali
ng pathway
IEA biological_process
GO:2001244 positive regulation of in
trinsic apoptotic signali
ng pathway
IMP biological_process
GO:2001244 positive regulation of in
trinsic apoptotic signali
ng pathway
IMP biological_process
GO:0001783 B cell apoptotic process
IDA biological_process
GO:0001783 B cell apoptotic process
IDA biological_process
GO:0001836 release of cytochrome c f
rom mitochondria
IDA biological_process
GO:0001836 release of cytochrome c f
rom mitochondria
IDA biological_process
GO:0001836 release of cytochrome c f
rom mitochondria
IDA biological_process
GO:0001844 protein insertion into mi
tochondrial membrane invo
lved in apoptotic signali
ng pathway
TAS biological_process
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005634 nucleus
IDA cellular_component
GO:0005634 nucleus
IMP cellular_component
GO:0005635 nuclear envelope
IDA cellular_component
GO:0005739 mitochondrion
IDA cellular_component
GO:0005739 mitochondrion
IDA cellular_component
GO:0005739 mitochondrion
IDA cellular_component
GO:0005739 mitochondrion
IDA cellular_component
GO:0005739 mitochondrion
IDA cellular_component
GO:0005741 mitochondrial outer membr
ane
IBA cellular_component
GO:0005741 mitochondrial outer membr
ane
TAS cellular_component
GO:0005741 mitochondrial outer membr
ane
TAS cellular_component
GO:0005757 mitochondrial permeabilit
y transition pore complex
IDA cellular_component
GO:0005783 endoplasmic reticulum
IDA cellular_component
GO:0005789 endoplasmic reticulum mem
brane
IDA cellular_component
GO:0005829 cytosol
IDA cellular_component
GO:0005829 cytosol
IDA cellular_component
GO:0005829 cytosol
IDA cellular_component
GO:0005829 cytosol
IDA cellular_component
GO:0005829 cytosol
IDA cellular_component
GO:0005829 cytosol
IDA cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0005829 cytosol
TAS cellular_component
GO:0006915 apoptotic process
IMP biological_process
GO:0006915 apoptotic process
IDA biological_process
GO:0006915 apoptotic process
NAS biological_process
GO:0006919 activation of cysteine-ty
pe endopeptidase activity
involved in apoptotic pr
ocess
IMP biological_process
GO:0006919 activation of cysteine-ty
pe endopeptidase activity
involved in apoptotic pr
ocess
IDA biological_process
GO:0006927 obsolete transformed cell
apoptotic process
IMP biological_process
GO:0006977 DNA damage response, sign
al transduction by p53 cl
ass mediator resulting in
cell cycle arrest
TAS biological_process
GO:0006987 activation of signaling p
rotein activity involved
in unfolded protein respo
nse
TAS biological_process
GO:0008053 mitochondrial fusion
IDA biological_process
GO:0008289 lipid binding
IDA molecular_function
GO:0008625 extrinsic apoptotic signa
ling pathway via death do
main receptors
IC biological_process
GO:0008630 intrinsic apoptotic signa
ling pathway in response
to DNA damage
IBA biological_process
GO:0008635 activation of cysteine-ty
pe endopeptidase activity
involved in apoptotic pr
ocess by cytochrome c
IDA biological_process
GO:0008637 apoptotic mitochondrial c
hanges
IDA biological_process
GO:0009636 response to toxic substan
ce
IDA biological_process
GO:0010248 establishment or maintena
nce of transmembrane elec
trochemical gradient
IDA biological_process
GO:0015267 channel activity
IDA molecular_function
GO:0016020 membrane
IDA cellular_component
GO:0032091 negative regulation of pr
otein binding
IDA biological_process
GO:0032461 positive regulation of pr
otein oligomerization
IDA biological_process
GO:0032469 endoplasmic reticulum cal
cium ion homeostasis
TAS biological_process
GO:0032976 release of matrix enzymes
from mitochondria
IDA biological_process
GO:0042802 identical protein binding
IPI molecular_function
GO:0042802 identical protein binding
IPI molecular_function
GO:0042802 identical protein binding
IPI molecular_function
GO:0042802 identical protein binding
IPI molecular_function
GO:0042802 identical protein binding
IPI molecular_function
GO:0042802 identical protein binding
IPI molecular_function
GO:0042802 identical protein binding
IPI molecular_function
GO:0042802 identical protein binding
IPI molecular_function
GO:0042802 identical protein binding
IPI molecular_function
GO:0042802 identical protein binding
IPI molecular_function
GO:0042802 identical protein binding
IPI molecular_function
GO:0042802 identical protein binding
IPI molecular_function
GO:0042802 identical protein binding
IPI molecular_function
GO:0042803 protein homodimerization
activity
IDA molecular_function
GO:0042803 protein homodimerization
activity
IPI molecular_function
GO:0042981 regulation of apoptotic p
rocess
TAS biological_process
GO:0043065 positive regulation of ap
optotic process
IMP biological_process
GO:0043496 regulation of protein hom
odimerization activity
IDA biological_process
GO:0043497 regulation of protein het
erodimerization activity
IPI biological_process
GO:0043525 positive regulation of ne
uron apoptotic process
IDA biological_process
GO:0043653 mitochondrial fragmentati
on involved in apoptotic
process
IDA biological_process
GO:0046930 pore complex
IDA cellular_component
GO:0046982 protein heterodimerizatio
n activity
IPI molecular_function
GO:0051259 protein oligomerization
IDA biological_process
GO:0051260 protein homooligomerizati
on
IDA biological_process
GO:0051260 protein homooligomerizati
on
IDA biological_process
GO:0051434 BH3 domain binding
IPI molecular_function
GO:0051434 BH3 domain binding
IPI molecular_function
GO:0051434 BH3 domain binding
IDA molecular_function
GO:0051881 regulation of mitochondri
al membrane potential
IDA biological_process
GO:0070059 intrinsic apoptotic signa
ling pathway in response
to endoplasmic reticulum
stress
IMP biological_process
GO:0070059 intrinsic apoptotic signa
ling pathway in response
to endoplasmic reticulum
stress
TAS biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0090200 positive regulation of re
lease of cytochrome c fro
m mitochondria
IDA biological_process
GO:0097136 Bcl-2 family protein comp
lex
IDA cellular_component
GO:0097144 BAX complex
IDA cellular_component
GO:0097190 apoptotic signaling pathw
ay
IDA biological_process
GO:0097191 extrinsic apoptotic signa
ling pathway
IDA biological_process
GO:0097192 extrinsic apoptotic signa
ling pathway in absence o
f ligand
IBA biological_process
GO:0097193 intrinsic apoptotic signa
ling pathway
IDA biological_process
GO:0097193 intrinsic apoptotic signa
ling pathway
IDA biological_process
GO:1900103 positive regulation of en
doplasmic reticulum unfol
ded protein response
IMP biological_process
GO:1901030 positive regulation of mi
tochondrial outer membran
e permeabilization involv
ed in apoptotic signaling
pathway
TAS biological_process
GO:1902512 positive regulation of ap
optotic DNA fragmentation
IMP biological_process
GO:1903896 positive regulation of IR
E1-mediated unfolded prot
ein response
TAS biological_process
GO:1990117 B cell receptor apoptotic
signaling pathway
IDA biological_process
GO:2001244 positive regulation of in
trinsic apoptotic signali
ng pathway
IMP biological_process
GO:2001244 positive regulation of in
trinsic apoptotic signali
ng pathway
IMP biological_process

KEGG pathways

hsa05200  Pathways in cancer
hsa05166  HTLV-I infection
hsa05167  Kaposi's sarcoma-associated herpesvirus infection
hsa05152  Tuberculosis
hsa05161  Hepatitis B
hsa04933  AGE-RAGE signaling pathway in diabetic complications
hsa05203  Viral carcinogenesis
hsa04210  Apoptosis
hsa01522  Endocrine resistance
hsa01521  EGFR tyrosine kinase inhibitor resistance
hsa04932  Non-alcoholic fatty liver disease
hsa05016  Huntington's disease
hsa04722  Neurotrophin signaling pathway
hsa04217  Necroptosis
hsa01524  Platinum drug resistance
hsa05210  Colorectal cancer
hsa04211  Longevity regulating pathway
hsa04071  Sphingolipid signaling pathway
hsa04115  p53 signaling pathway
hsa04141  Protein processing in endoplasmic reticulum
hsa04215  Apoptosis
hsa05014  Amyotrophic lateral sclerosis
PTHR11256:SF42  CCKR signaling map
hsa05020  Prion diseases
PTHR11256:SF42  Huntington disease
PTHR11256:SF42  Apoptosis signaling pathway
PTHR11256:SF42  Huntington disease
PTHR11256:SF42  p53 pathway
PTHR11256:SF42  p53 pathway
PTHR11256:SF42  Apoptosis signaling pathway
PTHR11256:SF42  Apoptosis signaling pathway
PTHR11256:SF42  Huntington disease
PTHR11256:SF42  p53 pathway

Diseases

Associated diseases References
Azoospermia PMID: 26056927
Cancer PMID: 19888426
Chronic endometritis PMID: 23351011
Chronic obstructive pulmonary disease (COPD) PMID: 19625176
Colorectal cancer KEGG: H00020
Endometriosis PMID: 19112572
Hyperandrogenism PMID: 24161766
Hyperplasia PMID: 7569956
Multiple sclerosis PMID: 12161031
Osteomyelitis PMID: 17438390
Parkinson's disease PMID: 18568448
Pemphigus PMID: 16611260
Polycystic ovary syndrome (PCOS) PMID: 17008325
Adenomyosis INFBASE12934347
Endometriosis INFBASE11020520
Unexplained infertility PMID: 16139338
Varicocele PMID: 25168538

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
25912412 Endometrio
sis

179 (59 endomet
rioid cancers,
36 clear cell c
ases, 18 contig
uous endometrio
sis cases, 66 b
enign endometri
otic ovarian cy
sts)
BAF250a
AKT
?H2AX
BIM
BAX
ATM
CHK2
Bcl2
Show abstract
12934347 Endometrio
sis

45 (16 patients
with adenomyos
is, 12 ovarian
endometriosis,
and 17 normal e
ndometrum)
Bcl-2
Bax
Show abstract
16150151 Endometrio
sis

64 (30 women wi
th endometriosi
s, 34 fertile e
umenorrheic wom
en )
C-myc
TGF-beta1
Bax
Show abstract
11020520 Endometrio
sis

30 (14 with unt
reated endometr
iosis, 16 contr
ols)
Bcl-2
Bax
Show abstract
24127964 Endometrio
sis
Caucasi
an
30 women in rep
roductive age w
ith a clinical
or sonographic
suspicion of en
dometrioma
Bcl-2
Bax and Mcl-1
Show abstract
20137818 Endometrio
sis


Bax
VEGF
IL-1beta
Show abstract