Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 596
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol BCL2   Gene   UCSC   Ensembl
Aliases Bcl-2, PPP1R50
Gene name BCL2, apoptosis regulator
Alternate names apoptosis regulator Bcl-2, B-cell CLL/lymphoma 2, protein phosphatase 1, regulatory subunit 50,
Gene location 18q21.33 (63319777: 63123345)     Exons: 6     NC_000018.10
Gene summary(Entrez) This gene encodes an integral outer mitochondrial membrane protein that blocks the apoptotic death of some cells such as lymphocytes. Constitutive expression of BCL2, such as in the case of translocation of BCL2 to Ig heavy chain locus, is thought to be the cause of follicular lymphoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
OMIM 151430

Protein Summary

Protein general information P10415  

Name: Apoptosis regulator Bcl 2

Length: 239  Mass: 26,266

Tissue specificity: Expressed in a variety of tissues.

Sequence MAHAGRTGYDNREIVMKYIHYKLSQRGYEWDAGDVGAAPPGAAPAPGIFSSQPGHTPHPAASRDPVARTSPLQTP
AAPGAAAGPALSPVPPVVHLTLRQAGDDFSRRYRRDFAEMSSQLHLTPFTARGRFATVVEELFRDGVNWGRIVAF
FEFGGVMCVESVNREMSPLVDNIALWMTEYLNRHLHTWIQDNGGWDAFVELYGPSMRPLFDFSWLSLKTLLSLAL
VGACITLGAYLGHK
Structural information

Motifs
BH4 (10-30)
BH3 (93-107)
BH1 (136-155)
BH2. (187-202)
Interpro:  IPR013278 IPR002475 IPR004725 IPR020717 IPR020726 IPR020728 IPR003093 IPR020731 IPR026298
Prosite:   PS50062 PS01080 PS01258 PS01259 PS01260 PS50063

Pfam:  
PF00452 PF02180

PDB:  
1G5M 1GJH 1YSW 2O21 2O22 2O2F 2W3L 2XA0 4AQ3 4IEH 4LVT 4LXD 4MAN 5AGW 5AGX 5FCG 5JSN
PDBsum:   1G5M 1GJH 1YSW 2O21 2O22 2O2F 2W3L 2XA0 4AQ3 4IEH 4LVT 4LXD 4MAN 5AGW 5AGX 5FCG 5JSN

DIP:  
1043
MINT:   87089
STRING:   ENSP00000329623;
Other Databases GeneCards:  BCL2;  Malacards:  BCL2

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0000209 protein polyubiquitinatio
n
IDA biological_process
GO:0001503 ossification
IEA biological_process
GO:0001541 ovarian follicle developm
ent
IEA biological_process
GO:0001656 metanephros development
IEA biological_process
GO:0001658 branching involved in ure
teric bud morphogenesis
IEA biological_process
GO:0001662 behavioral fear response
IEA biological_process
GO:0001782 B cell homeostasis
IEA biological_process
GO:0001836 release of cytochrome c f
rom mitochondria
NAS biological_process
GO:0001836 release of cytochrome c f
rom mitochondria
ISS biological_process
GO:0001952 regulation of cell-matrix
adhesion
IEA biological_process
GO:0002020 protease binding
IDA molecular_function
GO:0002320 lymphoid progenitor cell
differentiation
IEA biological_process
GO:0002326 B cell lineage commitment
IEA biological_process
GO:0002931 response to ischemia
IEA biological_process
GO:0003014 renal system 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: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
IDA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005739 mitochondrion
IDA cellular_component
GO:0005739 mitochondrion
IDA cellular_component
GO:0005741 mitochondrial outer membr
ane
IDA cellular_component
GO:0005741 mitochondrial outer membr
ane
IDA cellular_component
GO:0005741 mitochondrial outer membr
ane
TAS cellular_component
GO:0005741 mitochondrial outer membr
ane
TAS cellular_component
GO:0005741 mitochondrial outer membr
ane
TAS cellular_component
GO:0005741 mitochondrial outer membr
ane
TAS cellular_component
GO:0005783 endoplasmic reticulum
IDA cellular_component
GO:0005789 endoplasmic reticulum mem
brane
IEA cellular_component
GO:0005829 cytosol
IEA cellular_component
GO:0006470 protein dephosphorylation
IEA biological_process
GO:0006582 melanin metabolic process
IEA biological_process
GO:0006808 regulation of nitrogen ut
ilization
IEA biological_process
GO:0006915 apoptotic process
IDA biological_process
GO:0006915 apoptotic process
IDA biological_process
GO:0006959 humoral immune response
TAS biological_process
GO:0006974 cellular response to DNA
damage stimulus
IMP biological_process
GO:0007015 actin filament organizati
on
IEA biological_process
GO:0007409 axonogenesis
IEA biological_process
GO:0007565 female pregnancy
NAS biological_process
GO:0007569 cell aging
IEA biological_process
GO:0008134 transcription factor bind
ing
IEA molecular_function
GO:0008584 male gonad development
IEA biological_process
GO:0008625 extrinsic apoptotic signa
ling pathway via death do
main receptors
IDA biological_process
GO:0008630 intrinsic apoptotic signa
ling pathway in response
to DNA damage
IBA biological_process
GO:0008631 intrinsic apoptotic signa
ling pathway in response
to oxidative stress
IEA biological_process
GO:0009314 response to radiation
NAS biological_process
GO:0009636 response to toxic substan
ce
IDA biological_process
GO:0009636 response to toxic substan
ce
IDA biological_process
GO:0009791 post-embryonic developmen
t
IEA biological_process
GO:0010039 response to iron ion
IDA biological_process
GO:0010224 response to UV-B
IEA biological_process
GO:0010332 response to gamma radiati
on
IEA biological_process
GO:0010468 regulation of gene expres
sion
IEA biological_process
GO:0010507 negative regulation of au
tophagy
TAS biological_process
GO:0010523 negative regulation of ca
lcium ion transport into
cytosol
IEA biological_process
GO:0010559 regulation of glycoprotei
n biosynthetic process
IEA biological_process
GO:0014031 mesenchymal cell developm
ent
IEA biological_process
GO:0014042 positive regulation of ne
uron maturation
IEA biological_process
GO:0014911 positive regulation of sm
ooth muscle cell migratio
n
IEA biological_process
GO:0015267 channel activity
IDA molecular_function
GO:0016020 membrane
IDA cellular_component
GO:0016049 cell growth
IEA biological_process
GO:0016248 channel inhibitor activit
y
IDA molecular_function
GO:0018105 peptidyl-serine phosphory
lation
IEA biological_process
GO:0018107 peptidyl-threonine phosph
orylation
IEA biological_process
GO:0021747 cochlear nucleus developm
ent
IEA biological_process
GO:0022612 gland morphogenesis
IEA biological_process
GO:0022898 regulation of transmembra
ne transporter activity
IDA biological_process
GO:0030279 negative regulation of os
sification
IEA biological_process
GO:0030307 positive regulation of ce
ll growth
IDA biological_process
GO:0030308 negative regulation of ce
ll growth
IEA biological_process
GO:0030318 melanocyte differentiatio
n
IEA biological_process
GO:0030336 negative regulation of ce
ll migration
IEA biological_process
GO:0030890 positive regulation of B
cell proliferation
IMP biological_process
GO:0031069 hair follicle morphogenes
is
IEA biological_process
GO:0031103 axon regeneration
IEA biological_process
GO:0031625 ubiquitin protein ligase
binding
IPI molecular_function
GO:0031647 regulation of protein sta
bility
IEA biological_process
GO:0031965 nuclear membrane
IDA cellular_component
GO:0031965 nuclear membrane
IDA cellular_component
GO:0031965 nuclear membrane
IDA cellular_component
GO:0031965 nuclear membrane
IDA cellular_component
GO:0032469 endoplasmic reticulum cal
cium ion homeostasis
TAS biological_process
GO:0032835 glomerulus development
IEA biological_process
GO:0032848 negative regulation of ce
llular pH reduction
IDA biological_process
GO:0033033 negative regulation of my
eloid cell apoptotic proc
ess
IEA biological_process
GO:0033077 T cell differentiation in
thymus
IEA biological_process
GO:0033138 positive regulation of pe
ptidyl-serine phosphoryla
tion
IEA biological_process
GO:0033689 negative regulation of os
teoblast proliferation
IEA biological_process
GO:0034097 response to cytokine
IDA biological_process
GO:0035094 response to nicotine
IDA biological_process
GO:0035265 organ growth
IEA biological_process
GO:0040018 positive regulation of mu
lticellular organism grow
th
IEA biological_process
GO:0042100 B cell proliferation
IDA biological_process
GO:0042149 cellular response to gluc
ose starvation
IEA biological_process
GO:0042493 response to drug
IMP biological_process
GO:0042493 response to drug
IDA biological_process
GO:0042542 response to hydrogen pero
xide
IEA biological_process
GO:0042802 identical protein binding
IPI molecular_function
GO:0042802 identical protein binding
IPI molecular_function
GO:0042803 protein homodimerization
activity
IPI molecular_function
GO:0043029 T cell homeostasis
IEA biological_process
GO:0043066 negative regulation of ap
optotic process
IDA biological_process
GO:0043066 negative regulation of ap
optotic process
IDA biological_process
GO:0043066 negative regulation of ap
optotic process
IDA biological_process
GO:0043066 negative regulation of ap
optotic process
IDA biological_process
GO:0043066 negative regulation of ap
optotic process
IMP biological_process
GO:0043066 negative regulation of ap
optotic process
IMP biological_process
GO:0043066 negative regulation of ap
optotic process
IDA biological_process
GO:0043066 negative regulation of ap
optotic process
IDA biological_process
GO:0043066 negative regulation of ap
optotic process
IMP biological_process
GO:0043066 negative regulation of ap
optotic process
IDA biological_process
GO:0043066 negative regulation of ap
optotic process
IDA biological_process
GO:0043066 negative regulation of ap
optotic process
IDA biological_process
GO:0043066 negative regulation of ap
optotic process
IDA biological_process
GO:0043066 negative regulation of ap
optotic process
IGI biological_process
GO:0043085 positive regulation of ca
talytic activity
IEA biological_process
GO:0043209 myelin sheath
IEA cellular_component
GO:0043375 CD8-positive, alpha-beta
T cell lineage commitment
IEA biological_process
GO:0043496 regulation of protein hom
odimerization activity
IDA biological_process
GO:0043497 regulation of protein het
erodimerization activity
IDA biological_process
GO:0043524 negative regulation of ne
uron apoptotic process
IDA biological_process
GO:0043565 sequence-specific DNA bin
ding
IDA molecular_function
GO:0043583 ear development
IEA biological_process
GO:0045069 regulation of viral genom
e replication
IEA biological_process
GO:0045636 positive regulation of me
lanocyte differentiation
IEA biological_process
GO:0046671 negative regulation of re
tinal cell programmed cel
l death
IEA biological_process
GO:0046902 regulation of mitochondri
al membrane permeability
ISS biological_process
GO:0046930 pore complex
IDA cellular_component
GO:0046982 protein heterodimerizatio
n activity
IPI molecular_function
GO:0048041 focal adhesion assembly
IEA biological_process
GO:0048536 spleen development
IEA biological_process
GO:0048538 thymus development
IEA biological_process
GO:0048546 digestive tract morphogen
esis
IEA biological_process
GO:0048599 oocyte development
IEA biological_process
GO:0048743 positive regulation of sk
eletal muscle fiber devel
opment
IEA biological_process
GO:0048753 pigment granule organizat
ion
IEA biological_process
GO:0048873 homeostasis of number of
cells within a tissue
IEA biological_process
GO:0050853 B cell receptor signaling
pathway
IMP biological_process
GO:0051384 response to glucocorticoi
d
IEA biological_process
GO:0051402 neuron apoptotic process
TAS biological_process
GO:0051434 BH3 domain binding
IPI molecular_function
GO:0051607 defense response to virus
IDA biological_process
GO:0051721 protein phosphatase 2A bi
nding
IEA molecular_function
GO:0051881 regulation of mitochondri
al membrane potential
ISS biological_process
GO:0051902 negative regulation of mi
tochondrial depolarizatio
n
TAS biological_process
GO:0051924 regulation of calcium ion
transport
IDA biological_process
GO:0055085 transmembrane transport
IEA biological_process
GO:0070059 intrinsic apoptotic signa
ling pathway in response
to endoplasmic reticulum
stress
IDA biological_process
GO:0071310 cellular response to orga
nic substance
IEA biological_process
GO:0071456 cellular response to hypo
xia
IEA biological_process
GO:0072593 reactive oxygen species m
etabolic process
IEA biological_process
GO:0097192 extrinsic apoptotic signa
ling pathway in absence o
f ligand
IEA biological_process
GO:1900740 positive regulation of pr
otein insertion into mito
chondrial membrane involv
ed in apoptotic signaling
pathway
TAS biological_process
GO:2000134 negative regulation of G1
/S transition of mitotic
cell cycle
IEA biological_process
GO:2000378 negative regulation of re
active oxygen species met
abolic process
IEA biological_process
GO:2000811 negative regulation of an
oikis
IMP biological_process
GO:2001234 negative regulation of ap
optotic signaling pathway
IMP biological_process
GO:2001240 negative regulation of ex
trinsic apoptotic signali
ng pathway in absence of
ligand
IGI biological_process
GO:2001243 negative regulation of in
trinsic apoptotic signali
ng pathway
IDA biological_process
GO:2001244 positive regulation of in
trinsic apoptotic signali
ng pathway
TAS biological_process
GO:0000209 protein polyubiquitinatio
n
IDA biological_process
GO:0000902 cell morphogenesis
IEA biological_process
GO:0001503 ossification
IEA biological_process
GO:0001541 ovarian follicle developm
ent
IEA biological_process
GO:0001656 metanephros development
IEA biological_process
GO:0001657 ureteric bud development
IEA biological_process
GO:0001658 branching involved in ure
teric bud morphogenesis
IEA biological_process
GO:0001662 behavioral fear response
IEA biological_process
GO:0001776 leukocyte homeostasis
IEA biological_process
GO:0001782 B cell homeostasis
IEA 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
NAS biological_process
GO:0001836 release of cytochrome c f
rom mitochondria
ISS biological_process
GO:0001952 regulation of cell-matrix
adhesion
IEA biological_process
GO:0002020 protease binding
IDA molecular_function
GO:0002260 lymphocyte homeostasis
IEA biological_process
GO:0002320 lymphoid progenitor cell
differentiation
IEA biological_process
GO:0002326 B cell lineage commitment
IEA biological_process
GO:0002360 T cell lineage commitment
IEA biological_process
GO:0002520 immune system development
IEA biological_process
GO:0002931 response to ischemia
IEA biological_process
GO:0003014 renal system 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: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
IEA cellular_component
GO:0005634 nucleus
IEA cellular_component
GO:0005634 nucleus
IDA cellular_component
GO:0005634 nucleus
IDA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005737 cytoplasm
IDA 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:0005741 mitochondrial outer membr
ane
IEA cellular_component
GO:0005741 mitochondrial outer membr
ane
IEA cellular_component
GO:0005741 mitochondrial outer membr
ane
IDA cellular_component
GO:0005741 mitochondrial outer membr
ane
IDA cellular_component
GO:0005741 mitochondrial outer membr
ane
TAS cellular_component
GO:0005741 mitochondrial outer membr
ane
TAS cellular_component
GO:0005741 mitochondrial outer membr
ane
TAS cellular_component
GO:0005741 mitochondrial outer membr
ane
TAS cellular_component
GO:0005783 endoplasmic reticulum
IEA cellular_component
GO:0005783 endoplasmic reticulum
IEA cellular_component
GO:0005783 endoplasmic reticulum
IDA cellular_component
GO:0005789 endoplasmic reticulum mem
brane
IEA cellular_component
GO:0005789 endoplasmic reticulum mem
brane
IEA cellular_component
GO:0005829 cytosol
IEA cellular_component
GO:0006470 protein dephosphorylation
IEA biological_process
GO:0006582 melanin metabolic process
IEA biological_process
GO:0006808 regulation of nitrogen ut
ilization
IEA biological_process
GO:0006874 cellular calcium ion home
ostasis
IEA biological_process
GO:0006915 apoptotic process
IEA biological_process
GO:0006915 apoptotic process
IEA biological_process
GO:0006915 apoptotic process
IDA biological_process
GO:0006915 apoptotic process
IDA biological_process
GO:0006959 humoral immune response
TAS biological_process
GO:0006974 cellular response to DNA
damage stimulus
IMP biological_process
GO:0006979 response to oxidative str
ess
IEA biological_process
GO:0007015 actin filament organizati
on
IEA biological_process
GO:0007409 axonogenesis
IEA biological_process
GO:0007565 female pregnancy
NAS biological_process
GO:0007569 cell aging
IEA biological_process
GO:0008134 transcription factor bind
ing
IEA molecular_function
GO:0008283 cell proliferation
IEA biological_process
GO:0008284 positive regulation of ce
ll proliferation
IEA biological_process
GO:0008285 negative regulation of ce
ll proliferation
IEA biological_process
GO:0008584 male gonad development
IEA biological_process
GO:0008625 extrinsic apoptotic signa
ling pathway via death do
main receptors
IDA biological_process
GO:0008630 intrinsic apoptotic signa
ling pathway in response
to DNA damage
IBA biological_process
GO:0008631 intrinsic apoptotic signa
ling pathway in response
to oxidative stress
IEA biological_process
GO:0008637 apoptotic mitochondrial c
hanges
IEA biological_process
GO:0009314 response to radiation
NAS biological_process
GO:0009636 response to toxic substan
ce
IEA biological_process
GO:0009636 response to toxic substan
ce
IDA biological_process
GO:0009636 response to toxic substan
ce
IDA biological_process
GO:0009791 post-embryonic developmen
t
IEA biological_process
GO:0009887 animal organ morphogenesi
s
IEA biological_process
GO:0010039 response to iron ion
IDA biological_process
GO:0010224 response to UV-B
IEA biological_process
GO:0010332 response to gamma radiati
on
IEA biological_process
GO:0010468 regulation of gene expres
sion
IEA biological_process
GO:0010506 regulation of autophagy
IEA biological_process
GO:0010507 negative regulation of au
tophagy
IEA biological_process
GO:0010507 negative regulation of au
tophagy
TAS biological_process
GO:0010523 negative regulation of ca
lcium ion transport into
cytosol
IEA biological_process
GO:0010559 regulation of glycoprotei
n biosynthetic process
IEA biological_process
GO:0014031 mesenchymal cell developm
ent
IEA biological_process
GO:0014042 positive regulation of ne
uron maturation
IEA biological_process
GO:0014911 positive regulation of sm
ooth muscle cell migratio
n
IEA biological_process
GO:0015267 channel activity
IDA molecular_function
GO:0016020 membrane
IEA cellular_component
GO:0016020 membrane
IEA cellular_component
GO:0016020 membrane
IEA cellular_component
GO:0016020 membrane
IDA cellular_component
GO:0016021 integral component of mem
brane
IEA cellular_component
GO:0016049 cell growth
IEA biological_process
GO:0016248 channel inhibitor activit
y
IDA molecular_function
GO:0016337 single organismal cell-ce
ll adhesion
IEA biological_process
GO:0018105 peptidyl-serine phosphory
lation
IEA biological_process
GO:0018107 peptidyl-threonine phosph
orylation
IEA biological_process
GO:0019903 protein phosphatase bindi
ng
IEA molecular_function
GO:0021747 cochlear nucleus developm
ent
IEA biological_process
GO:0022612 gland morphogenesis
IEA biological_process
GO:0022898 regulation of transmembra
ne transporter activity
IDA biological_process
GO:0030097 hemopoiesis
IEA biological_process
GO:0030183 B cell differentiation
IEA biological_process
GO:0030217 T cell differentiation
IEA biological_process
GO:0030279 negative regulation of os
sification
IEA biological_process
GO:0030307 positive regulation of ce
ll growth
IDA biological_process
GO:0030308 negative regulation of ce
ll growth
IEA biological_process
GO:0030318 melanocyte differentiatio
n
IEA biological_process
GO:0030336 negative regulation of ce
ll migration
IEA biological_process
GO:0030890 positive regulation of B
cell proliferation
IMP biological_process
GO:0031069 hair follicle morphogenes
is
IEA biological_process
GO:0031103 axon regeneration
IEA biological_process
GO:0031625 ubiquitin protein ligase
binding
IPI molecular_function
GO:0031647 regulation of protein sta
bility
IEA biological_process
GO:0031965 nuclear membrane
IEA cellular_component
GO:0031965 nuclear membrane
IEA cellular_component
GO:0031965 nuclear membrane
IDA cellular_component
GO:0031965 nuclear membrane
IDA cellular_component
GO:0031965 nuclear membrane
IDA cellular_component
GO:0031965 nuclear membrane
IDA cellular_component
GO:0031966 mitochondrial membrane
IEA cellular_component
GO:0032469 endoplasmic reticulum cal
cium ion homeostasis
IEA biological_process
GO:0032469 endoplasmic reticulum cal
cium ion homeostasis
TAS biological_process
GO:0032835 glomerulus development
IEA biological_process
GO:0032848 negative regulation of ce
llular pH reduction
IDA biological_process
GO:0032880 regulation of protein loc
alization
IEA biological_process
GO:0033033 negative regulation of my
eloid cell apoptotic proc
ess
IEA biological_process
GO:0033077 T cell differentiation in
thymus
IEA biological_process
GO:0033138 positive regulation of pe
ptidyl-serine phosphoryla
tion
IEA biological_process
GO:0033689 negative regulation of os
teoblast proliferation
IEA biological_process
GO:0034097 response to cytokine
IEA biological_process
GO:0034097 response to cytokine
IDA biological_process
GO:0035094 response to nicotine
IDA biological_process
GO:0035265 organ growth
IEA biological_process
GO:0040007 growth
IEA biological_process
GO:0040018 positive regulation of mu
lticellular organism grow
th
IEA biological_process
GO:0042100 B cell proliferation
IDA biological_process
GO:0042149 cellular response to gluc
ose starvation
IEA biological_process
GO:0042493 response to drug
IEA biological_process
GO:0042493 response to drug
IMP biological_process
GO:0042493 response to drug
IDA biological_process
GO:0042542 response to hydrogen pero
xide
IEA biological_process
GO:0042802 identical protein binding
IPI molecular_function
GO:0042802 identical protein binding
IPI 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
IEA biological_process
GO:0043029 T cell homeostasis
IEA biological_process
GO:0043066 negative regulation of ap
optotic process
IEA biological_process
GO:0043066 negative regulation of ap
optotic process
IEA biological_process
GO:0043066 negative regulation of ap
optotic process
IDA biological_process
GO:0043066 negative regulation of ap
optotic process
IDA biological_process
GO:0043066 negative regulation of ap
optotic process
IDA biological_process
GO:0043066 negative regulation of ap
optotic process
IDA biological_process
GO:0043066 negative regulation of ap
optotic process
IMP biological_process
GO:0043066 negative regulation of ap
optotic process
IMP biological_process
GO:0043066 negative regulation of ap
optotic process
IDA biological_process
GO:0043066 negative regulation of ap
optotic process
IDA biological_process
GO:0043066 negative regulation of ap
optotic process
IMP biological_process
GO:0043066 negative regulation of ap
optotic process
IDA biological_process
GO:0043066 negative regulation of ap
optotic process
IDA biological_process
GO:0043066 negative regulation of ap
optotic process
IDA biological_process
GO:0043066 negative regulation of ap
optotic process
IDA biological_process
GO:0043066 negative regulation of ap
optotic process
IGI biological_process
GO:0043067 regulation of programmed
cell death
IEA biological_process
GO:0043085 positive regulation of ca
talytic activity
IEA biological_process
GO:0043209 myelin sheath
IEA cellular_component
GO:0043375 CD8-positive, alpha-beta
T cell lineage commitment
IEA biological_process
GO:0043473 pigmentation
IEA biological_process
GO:0043496 regulation of protein hom
odimerization activity
IDA biological_process
GO:0043497 regulation of protein het
erodimerization activity
IDA biological_process
GO:0043524 negative regulation of ne
uron apoptotic process
IEA biological_process
GO:0043524 negative regulation of ne
uron apoptotic process
IDA biological_process
GO:0043565 sequence-specific DNA bin
ding
IDA molecular_function
GO:0043583 ear development
IEA biological_process
GO:0045069 regulation of viral genom
e replication
IEA biological_process
GO:0045636 positive regulation of me
lanocyte differentiation
IEA biological_process
GO:0045930 negative regulation of mi
totic cell cycle
IEA biological_process
GO:0046671 negative regulation of re
tinal cell programmed cel
l death
IEA biological_process
GO:0046902 regulation of mitochondri
al membrane permeability
IEA biological_process
GO:0046902 regulation of mitochondri
al membrane permeability
ISS 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:0048041 focal adhesion assembly
IEA biological_process
GO:0048066 developmental pigmentatio
n
IEA biological_process
GO:0048070 regulation of development
al pigmentation
IEA biological_process
GO:0048087 positive regulation of de
velopmental pigmentation
IEA biological_process
GO:0048536 spleen development
IEA biological_process
GO:0048538 thymus development
IEA biological_process
GO:0048545 response to steroid hormo
ne
IEA biological_process
GO:0048546 digestive tract morphogen
esis
IEA biological_process
GO:0048589 developmental growth
IEA biological_process
GO:0048599 oocyte development
IEA biological_process
GO:0048743 positive regulation of sk
eletal muscle fiber devel
opment
IEA biological_process
GO:0048753 pigment granule organizat
ion
IEA biological_process
GO:0048873 homeostasis of number of
cells within a tissue
IEA biological_process
GO:0050790 regulation of catalytic a
ctivity
IEA biological_process
GO:0050853 B cell receptor signaling
pathway
IMP biological_process
GO:0051384 response to glucocorticoi
d
IEA biological_process
GO:0051402 neuron apoptotic process
IEA biological_process
GO:0051402 neuron apoptotic process
TAS biological_process
GO:0051434 BH3 domain binding
IPI molecular_function
GO:0051607 defense response to virus
IDA biological_process
GO:0051721 protein phosphatase 2A bi
nding
IEA molecular_function
GO:0051726 regulation of cell cycle
IEA biological_process
GO:0051881 regulation of mitochondri
al membrane potential
IEA biological_process
GO:0051881 regulation of mitochondri
al membrane potential
ISS biological_process
GO:0051902 negative regulation of mi
tochondrial depolarizatio
n
TAS biological_process
GO:0051924 regulation of calcium ion
transport
IDA biological_process
GO:0055085 transmembrane transport
IEA biological_process
GO:0070059 intrinsic apoptotic signa
ling pathway in response
to endoplasmic reticulum
stress
IDA biological_process
GO:0071310 cellular response to orga
nic substance
IEA biological_process
GO:0071456 cellular response to hypo
xia
IEA biological_process
GO:0072593 reactive oxygen species m
etabolic process
IEA biological_process
GO:0097192 extrinsic apoptotic signa
ling pathway in absence o
f ligand
IEA biological_process
GO:1900740 positive regulation of pr
otein insertion into mito
chondrial membrane involv
ed in apoptotic signaling
pathway
TAS biological_process
GO:2000134 negative regulation of G1
/S transition of mitotic
cell cycle
IEA biological_process
GO:2000378 negative regulation of re
active oxygen species met
abolic process
IEA biological_process
GO:2000811 negative regulation of an
oikis
IMP biological_process
GO:2001234 negative regulation of ap
optotic signaling pathway
IEA biological_process
GO:2001234 negative regulation of ap
optotic signaling pathway
IMP biological_process
GO:2001240 negative regulation of ex
trinsic apoptotic signali
ng pathway in absence of
ligand
IGI biological_process
GO:2001243 negative regulation of in
trinsic apoptotic signali
ng pathway
IDA biological_process
GO:2001244 positive regulation of in
trinsic apoptotic signali
ng pathway
TAS biological_process
GO:0000209 protein polyubiquitinatio
n
IDA biological_process
GO:0001836 release of cytochrome c f
rom mitochondria
NAS biological_process
GO:0001836 release of cytochrome c f
rom mitochondria
ISS biological_process
GO:0002020 protease binding
IDA 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: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
IDA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005739 mitochondrion
IDA cellular_component
GO:0005739 mitochondrion
IDA cellular_component
GO:0005741 mitochondrial outer membr
ane
IDA cellular_component
GO:0005741 mitochondrial outer membr
ane
IDA cellular_component
GO:0005741 mitochondrial outer membr
ane
TAS cellular_component
GO:0005741 mitochondrial outer membr
ane
TAS cellular_component
GO:0005741 mitochondrial outer membr
ane
TAS cellular_component
GO:0005741 mitochondrial outer membr
ane
TAS cellular_component
GO:0005783 endoplasmic reticulum
IDA cellular_component
GO:0006915 apoptotic process
IDA biological_process
GO:0006915 apoptotic process
IDA biological_process
GO:0006959 humoral immune response
TAS biological_process
GO:0006974 cellular response to DNA
damage stimulus
IMP biological_process
GO:0007565 female pregnancy
NAS biological_process
GO:0008625 extrinsic apoptotic signa
ling pathway via death do
main receptors
IDA biological_process
GO:0008630 intrinsic apoptotic signa
ling pathway in response
to DNA damage
IBA biological_process
GO:0009314 response to radiation
NAS biological_process
GO:0009636 response to toxic substan
ce
IDA biological_process
GO:0009636 response to toxic substan
ce
IDA biological_process
GO:0010039 response to iron ion
IDA biological_process
GO:0010507 negative regulation of au
tophagy
TAS biological_process
GO:0015267 channel activity
IDA molecular_function
GO:0016020 membrane
IDA cellular_component
GO:0016248 channel inhibitor activit
y
IDA molecular_function
GO:0022898 regulation of transmembra
ne transporter activity
IDA biological_process
GO:0030307 positive regulation of ce
ll growth
IDA biological_process
GO:0030890 positive regulation of B
cell proliferation
IMP biological_process
GO:0031625 ubiquitin protein ligase
binding
IPI molecular_function
GO:0031965 nuclear membrane
IDA cellular_component
GO:0031965 nuclear membrane
IDA cellular_component
GO:0031965 nuclear membrane
IDA cellular_component
GO:0031965 nuclear membrane
IDA cellular_component
GO:0032469 endoplasmic reticulum cal
cium ion homeostasis
TAS biological_process
GO:0032848 negative regulation of ce
llular pH reduction
IDA biological_process
GO:0034097 response to cytokine
IDA biological_process
GO:0035094 response to nicotine
IDA biological_process
GO:0042100 B cell proliferation
IDA biological_process
GO:0042493 response to drug
IMP biological_process
GO:0042493 response to drug
IDA biological_process
GO:0042802 identical protein binding
IPI molecular_function
GO:0042802 identical protein binding
IPI molecular_function
GO:0042803 protein homodimerization
activity
IPI molecular_function
GO:0043066 negative regulation of ap
optotic process
IDA biological_process
GO:0043066 negative regulation of ap
optotic process
IDA biological_process
GO:0043066 negative regulation of ap
optotic process
IDA biological_process
GO:0043066 negative regulation of ap
optotic process
IDA biological_process
GO:0043066 negative regulation of ap
optotic process
IMP biological_process
GO:0043066 negative regulation of ap
optotic process
IMP biological_process
GO:0043066 negative regulation of ap
optotic process
IDA biological_process
GO:0043066 negative regulation of ap
optotic process
IDA biological_process
GO:0043066 negative regulation of ap
optotic process
IMP biological_process
GO:0043066 negative regulation of ap
optotic process
IDA biological_process
GO:0043066 negative regulation of ap
optotic process
IDA biological_process
GO:0043066 negative regulation of ap
optotic process
IDA biological_process
GO:0043066 negative regulation of ap
optotic process
IDA biological_process
GO:0043066 negative regulation of ap
optotic process
IGI biological_process
GO:0043496 regulation of protein hom
odimerization activity
IDA biological_process
GO:0043497 regulation of protein het
erodimerization activity
IDA biological_process
GO:0043524 negative regulation of ne
uron apoptotic process
IDA biological_process
GO:0043565 sequence-specific DNA bin
ding
IDA molecular_function
GO:0046902 regulation of mitochondri
al membrane permeability
ISS biological_process
GO:0046930 pore complex
IDA cellular_component
GO:0046982 protein heterodimerizatio
n activity
IPI molecular_function
GO:0050853 B cell receptor signaling
pathway
IMP biological_process
GO:0051402 neuron apoptotic process
TAS biological_process
GO:0051434 BH3 domain binding
IPI molecular_function
GO:0051607 defense response to virus
IDA biological_process
GO:0051881 regulation of mitochondri
al membrane potential
ISS biological_process
GO:0051902 negative regulation of mi
tochondrial depolarizatio
n
TAS biological_process
GO:0051924 regulation of calcium ion
transport
IDA biological_process
GO:0070059 intrinsic apoptotic signa
ling pathway in response
to endoplasmic reticulum
stress
IDA biological_process
GO:1900740 positive regulation of pr
otein insertion into mito
chondrial membrane involv
ed in apoptotic signaling
pathway
TAS biological_process
GO:2000811 negative regulation of an
oikis
IMP biological_process
GO:2001234 negative regulation of ap
optotic signaling pathway
IMP biological_process
GO:2001240 negative regulation of ex
trinsic apoptotic signali
ng pathway in absence of
ligand
IGI biological_process
GO:2001243 negative regulation of in
trinsic apoptotic signali
ng pathway
IDA biological_process
GO:2001244 positive regulation of in
trinsic apoptotic signali
ng pathway
TAS biological_process

KEGG pathways

hsa05200  Pathways in cancer
hsa04151  PI3K-Akt signaling pathway
hsa05206  MicroRNAs in cancer
hsa04510  Focal adhesion
hsa05152  Tuberculosis
hsa05169  Epstein-Barr virus infection
hsa05418  Fluid shear stress and atherosclerosis
hsa05161  Hepatitis B
hsa04630  Jak-STAT signaling pathway
hsa05145  Toxoplasmosis
PTHR11256:SF11  CCKR signaling map
hsa04933  AGE-RAGE signaling pathway in diabetic complications
hsa04210  Apoptosis
hsa04621  NOD-like receptor signaling pathway
hsa05215  Prostate cancer
hsa01522  Endocrine resistance
hsa01521  EGFR tyrosine kinase inhibitor resistance
hsa04066  HIF-1 signaling pathway
hsa04722  Neurotrophin signaling pathway
hsa04217  Necroptosis
hsa01524  Platinum drug resistance
hsa05222  Small cell lung cancer
hsa05210  Colorectal cancer
hsa04064  NF-kappa B signaling pathway
hsa04071  Sphingolipid signaling pathway
hsa04140  Autophagy - animal
hsa04141  Protein processing in endoplasmic reticulum
hsa04261  Adrenergic signaling in cardiomyocytes
hsa04725  Cholinergic synapse
hsa04215  Apoptosis
hsa05014  Amyotrophic lateral sclerosis
hsa04340  Hedgehog signaling pathway
PTHR11256:SF11  CCKR signaling map
PTHR11256:SF11  CCKR signaling map
PTHR11256:SF11  CCKR signaling map
PTHR11256:SF11  CCKR signaling map
PTHR11256:SF11  CCKR signaling map

Diseases

Associated diseases References
Adenomyosis PMID: 12212116
Azoospermia PMID: 26056927
Cancer PMID: 16733517
Cervical cancer KEGG: H00030
Choriocarcinoma KEGG: H00028
Chronic endometritis PMID: 23351011
Chronic lymphocytic leukemia KEGG: H00005
Chronic obstructive pulmonary disease (COPD) PMID: 17207023
Diabetes PMID: 11704806
Endometrial cancer PMID: 16361289
Endometriosis PMID: 19112572
Follicular lymphoma KEGG: H01613
Gastric cancer KEGG: H00018
Hyperandrogenism PMID: 24161766
Kaposi's sarcoma KEGG: H00041
Male infertility PMID: 18003625
Multiple sclerosis PMID: 12161031
Nasopharyngeal cancer KEGG: H00054
Non-obstructive azoospermia (NOA) PMID: 24549219
Oocyte competency PMID: 20034411
Ovarian endometriosis PMID: 18849443
Ovarian endometriosis PMID: 18849443
Polycystic ovary syndrome (PCOS) PMID: 16361289
Recurrent miscarriage PMID: 23218678
Small cell lung cancer KEGG: H00013
Systemic lupus erythematosus PMID: 12133517
Ovarian endometriosis INFBASE18849443
Adenomyosis INFBASE12934347
Ectopic endometriosis INFBASE9065182
Endometriosis INFBASE9043920
Unexplained infertility PMID: 16139338
Varicocele PMID: 25168538

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
18849443 Endometrio
sis (ovari
an)


CYP1A1
CYP1B1
gamma-syn
ER alpha
ER beta
BCL-2
Show 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
9065182 Endometrio
sis

38 (29 patients
with endometri
osis, 9 patient
s with uterine
myoma)
Bcl-2
Fas
Show abstract
9043920 Endometrio
sis



Show abstract
22563025 Endometrio
sis


CXCL8
CXCR1
PTEN
AKT
Show abstract
25996258 Endometrio
sis

42 (30 women wi
th ovarian endo
metriosis, 12 w
omen without EM
S)
CD147
Bcl-2
ERK
Show abstract
12934347 Endometrio
sis

45 (16 patients
with adenomyos
is, 12 ovarian
endometriosis,
and 17 normal e
ndometrum)
Bcl-2
Bax
Show abstract
16202314 Endometrio
sis

66 (36 samples
of peritoneal f
luid and serum
respectively fr
om patients wit
h endometriosis
, 30 samples of
peritoneal flu
id and serum re
spectively from
patients witho
ut endometriosi
s)
PGE2
Bcl-2
Show abstract
11020520 Endometrio
sis

30 (14 with unt
reated endometr
iosis, 16 contr
ols)
Bcl-2
Bax
Show abstract
9886539 Endometrio
sis

75 (302 women w
ith endometrios
is, 15 adenomyo
sis cases, 30 c
ontrol endometr
ium)
BCL-2
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