Endometriosis Knowledgebase

Search Result

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 accession	Term name	Evidence code	Go 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	Ethnicity	Population details	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