• Gene id: 666

Gene Summary

• Gene Symbol: BOK   Gene   UCSC   Ensembl
• Aliases: BCL2L9, BOKL
• Gene name: BCL2 family apoptosis regulator BOK
• Alternate names: bcl-2-related ovarian killer protein, BCL2 related ovarian killer, BOK, BCL2 family apoptosis regulator, bcl-2-like protein 9, bcl2-L-9, hBOK,
• Gene location: 2q37.3 (241558744: 241574130)     Exons: 7     NC_000002.12
• Gene summary(Entrez): The protein encoded by this gene belongs to the BCL2 family, members of which form homo- or heterodimers, and act as anti- or proapoptotic regulators that are involved in a wide variety of cellular processes. Studies in rat show that this protein has rest
• OMIM: 605404

SNPs

rs11046992

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.23584632G>A
NC_000012.12   g.23584632G>C
NC_000012.12   g.23584632G>T
NC_000012.11   g.23737566G>A
NC_000012.11   g.23737566G>C
NC_000012.11   g.23737566G>T
NG_029612.2   g.982815C>T
NG_029612.2   g.982815C>G
NG_029612.2   g.982815C>A|SEQ=[G/A/C/T]|GE

rs10842262

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.24031610G>C
NC_000012.11   g.24184544G>C
NG_029612.2   g.535837C>G|SEQ=[G/C]|GENE=SOX5

rs146039840

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.23949682T>G
NC_000012.11   g.24102616T>G
NG_029612.2   g.617765A>C
NM_001330785.1   c.-81A>C|SEQ=[T/G]|GENE=SOX5

Protein Summary

• Protein general information: Q9UMX3  
  • Name: Bcl 2 related ovarian killer protein (hBOK) (Bcl 2 like protein 9) (Bcl2 L 9)
  • Length: 212  
  • Mass: 23280
  • Tissue specificity: Expressed mainly in oocytes; weak expression in granulosa cells of the developing follicles. In adult human ovaries, expressed in granulosa cells at all follicular stages, but expression in primordial/primary follicles granulosa cell i
• Sequence:

  MEVLRRSSVFAAEIMDAFDRSPTDKELVAQAKALGREYVHARLLRAGLSWSAPERAAPVPGRLAEVCAVLLRLGD
  ELEMIRPSVYRNVARQLHISLQSEPVVTDAFLAVAGHIFSAGITWGKVVSLYAVAAGLAVDCVRQAQPAMVHALV
  DCLGEFVRKTLATWLRRRGGWTDVLKCVVSTDPGLRSHWLVAALCSFGRFLKAAFFVLLPER

• Structural information:
  • Interpro: IPR002475  IPR036834  IPR026298  IPR026309  
  • Prosite: PS50062
  • PDB: 6CKV
  • PDBsum: 6CKV
  • STRING: ENSP00000314132
• Other Databases: GeneCards:  BOK  Malacards:  BOK

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0042803	protein homodimerization activity	IBA	molecular function
GO:0097192	extrinsic apoptotic signaling pathway in absence of ligand	IBA	biological process
GO:0046982	protein heterodimerization activity	IBA	molecular function
GO:0008630	intrinsic apoptotic signaling pathway in response to DNA damage	IBA	biological process
GO:0005741	mitochondrial outer membrane	IBA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005789	endoplasmic reticulum membrane	IDA	cellular component
GO:1901382	regulation of chorionic trophoblast cell proliferation	IDA	biological process
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0043065	positive regulation of apoptotic process	IDA	biological process
GO:0031966	mitochondrial membrane	IDA	cellular component
GO:0001836	release of cytochrome c from mitochondria	IDA	biological process
GO:0005739	mitochondrion	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0043065	positive regulation of apoptotic process	IDA	biological process
GO:0005743	mitochondrial inner membrane	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0010506	regulation of autophagy	IMP	biological process
GO:0006921	cellular component disassembly involved in execution phase of apoptosis	ISS	biological process
GO:0055038	recycling endosome membrane	ISS	cellular component
GO:0032588	trans-Golgi network membrane	ISS	cellular component
GO:0031901	early endosome membrane	ISS	cellular component
GO:0042803	protein homodimerization activity	ISS	molecular function
GO:2001244	positive regulation of intrinsic apoptotic signaling pathway	ISS	biological process
GO:0008635	activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c	ISS	biological process
GO:1901030	positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway	ISS	biological process
GO:0051259	protein complex oligomerization	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0033106	cis-Golgi network membrane	ISS	cellular component
GO:1903899	positive regulation of PERK-mediated unfolded protein response	ISS	biological process
GO:1902237	positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway	ISS	biological process
GO:0046982	protein heterodimerization activity	ISS	molecular function
GO:1904708	regulation of granulosa cell apoptotic process	IMP	biological process
GO:0042981	regulation of apoptotic process	IEA	biological process
GO:0005768	endosome	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006915	apoptotic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005741	mitochondrial outer membrane	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0006921	cellular component disassembly involved in execution phase of apoptosis	IEA	biological process
GO:0008635	activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c	IEA	biological process
GO:0031625	ubiquitin protein ligase binding	IEA	molecular function
GO:0031901	early endosome membrane	IEA	cellular component
GO:0032588	trans-Golgi network membrane	IEA	cellular component
GO:0042803	protein homodimerization activity	IEA	molecular function
GO:0051259	protein complex oligomerization	IEA	biological process
GO:0051402	neuron apoptotic process	IEA	biological process
GO:0051480	regulation of cytosolic calcium ion concentration	IEA	biological process
GO:0055038	recycling endosome membrane	IEA	cellular component
GO:0060546	negative regulation of necroptotic process	IEA	biological process
GO:1901029	negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway	IEA	biological process
GO:1901030	positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway	IEA	biological process
GO:2001244	positive regulation of intrinsic apoptotic signaling pathway	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0006915	apoptotic process	IEA	biological process
GO:0007420	brain development	IEA	biological process
GO:0008584	male gonad development	IEA	biological process
GO:0043065	positive regulation of apoptotic process	IEA	biological process
GO:0044877	protein-containing complex binding	IEA	molecular function
GO:0046983	protein dimerization activity	IEA	molecular function
GO:0048709	oligodendrocyte differentiation	IEA	biological process
GO:0051400	BH domain binding	IEA	molecular function
GO:0005102	signaling receptor binding	IEA	molecular function
GO:0031966	mitochondrial membrane	IEA	cellular component
GO:0033106	cis-Golgi network membrane	IEA	cellular component
GO:0043524	negative regulation of neuron apoptotic process	IEA	biological process
GO:0051902	negative regulation of mitochondrial depolarization	IEA	biological process
GO:1902237	positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway	IEA	biological process
GO:1903899	positive regulation of PERK-mediated unfolded protein response	IEA	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0055038	recycling endosome membrane	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0031966	mitochondrial membrane	IEA	cellular component
GO:0005741	mitochondrial outer membrane	IEA	cellular component
GO:0031901	early endosome membrane	IEA	cellular component
GO:0005640	nuclear outer membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0006915	apoptotic process	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0031966	mitochondrial membrane	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0072332	intrinsic apoptotic signaling pathway by p53 class mediator	IMP	biological process
GO:1900119	positive regulation of execution phase of apoptosis	IMP	biological process
GO:0006919	activation of cysteine-type endopeptidase activity involved in apoptotic process	IMP	biological process
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04215	Apoptosis - multiple species

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq