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BOK BCL2-related ovarian killer [ Homo sapiens (human) ]

Gene ID: 666, updated on 8-May-2016
Official Symbol
BOKprovided by HGNC
Official Full Name
BCL2-related ovarian killerprovided by HGNC
Primary source
HGNC:HGNC:1087
See related
Ensembl:ENSG00000176720 HPRD:05657; MIM:605404; Vega:OTTHUMG00000133411
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BOKL; BCL2L9
Summary
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 restricted expression in reproductive tissues, interacts strongly with some antiapoptotic BCL2 proteins, not at all with proapoptotic BCL2 proteins, and induces apoptosis in transfected cells. Thus, this protein represents a proapoptotic member of the BCL2 family. [provided by RefSeq, Sep 2011]
Orthologs
Location:
2q37.3
Exon count:
8
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 2 NC_000002.12 (241558064..241574138)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (242498146..242513553)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene FERM, ARH/RhoGEF and pleckstrin domain protein 2 Neighboring gene serine/threonine kinase 25 Neighboring gene uncharacterized LOC105373974 Neighboring gene BOK antisense RNA 1 Neighboring gene uncharacterized LOC105373975 Neighboring gene RNA, 5S ribosomal pseudogene 122 Neighboring gene THAP domain containing 4

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
NHGRI GWA Catalog
Voxelwise genome-wide association study (vGWAS).
NHGRI GWA Catalog
  • Apoptosis, organism-specific biosystem (from WikiPathways)
    Apoptosis, organism-specific biosystemApoptosis is a distinct form of cell death that is functionally and morphologically different from necrosis. Nuclear chromatin condensation, cytoplasmic shrinking, dilated endoplasmic reticulum, and ...
  • Apoptosis - multiple species, organism-specific biosystem (from KEGG)
    Apoptosis - multiple species, organism-specific biosystemApoptosis is an evolutionarily conserved process used by multicellular organisms to developmentally regulate cell number or to eliminate cells that are potentially detrimental to the organism. The ma...
  • Apoptosis - multiple species, conserved biosystem (from KEGG)
    Apoptosis - multiple species, conserved biosystemApoptosis is an evolutionarily conserved process used by multicellular organisms to developmentally regulate cell number or to eliminate cells that are potentially detrimental to the organism. The ma...
  • Apoptosis Modulation and Signaling, organism-specific biosystem (from WikiPathways)
    Apoptosis Modulation and Signaling, organism-specific biosystemApoptosis, or cell death program, can be activated by various mechanisms within the extrinsic and the intrinsic pathway. While activation of cell death receptors leads to the engagement of the extrin...
  • TP53 network, organism-specific biosystem (from WikiPathways)
    TP53 network, organism-specific biosystemP53 is not a lonely genome guardian, it operates with the assistance of p73 and p63 within a complex network including distinct but complementary pathways. This protein family presents a high le...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC4631

Gene Ontology Provided by GOA

Function Evidence Code Pubs
BH domain binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein heterodimerization activity IBA
Inferred from Biological aspect of Ancestor
more info
 
protein homodimerization activity IBA
Inferred from Biological aspect of Ancestor
more info
 
Process Evidence Code Pubs
activation of cysteine-type endopeptidase activity involved in apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
brain development IEA
Inferred from Electronic Annotation
more info
 
cell proliferation IEP
Inferred from Expression Pattern
more info
PubMed 
extrinsic apoptotic signaling pathway in absence of ligand IBA
Inferred from Biological aspect of Ancestor
more info
 
intrinsic apoptotic signaling pathway by p53 class mediator IMP
Inferred from Mutant Phenotype
more info
PubMed 
intrinsic apoptotic signaling pathway in response to DNA damage IBA
Inferred from Biological aspect of Ancestor
more info
 
male gonad development IEA
Inferred from Electronic Annotation
more info
 
neuron apoptotic process IEA
Inferred from Electronic Annotation
more info
 
oligodendrocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of execution phase of apoptosis IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
Golgi membrane IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrial membrane IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial outer membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
bcl-2-related ovarian killer protein
Names
bcl-2-like protein 9
bcl2-L-9
hBOK

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_029488.1 RefSeqGene

    Range
    4955..20362
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_032515.4NP_115904.1  bcl-2-related ovarian killer protein

    See identical proteins and their annotated locations for NP_115904.1

    Status: REVIEWED

    Source sequence(s)
    AF174487, BP332256, BX395656, BX460019, CD368092, CN279174, CN279175
    Consensus CDS
    CCDS2550.1
    UniProtKB/Swiss-Prot
    Q9UMX3
    UniProtKB/TrEMBL
    A0A024R4A8
    Related
    ENSP00000314132, OTTHUMP00000164606, ENST00000318407, OTTHUMT00000257268
    Conserved Domains (1) summary
    cd06845
    Location:37177
    Bcl-2_like; Apoptosis regulator proteins of the Bcl-2 family, named after B-cell lymphoma 2. This alignment model spans what have been described as Bcl-2 homology regions BH1, BH2, BH3, and BH4. Many members of this family have an additional C-terminal transmembrane ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p2 Primary Assembly

    Range
    241558064..241574138
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011511697.1XP_011509999.1  

    Conserved Domains (1) summary
    cl02575
    Location:37115
    Bcl-2_like; Apoptosis regulator proteins of the Bcl-2 family, named after B-cell lymphoma 2. This alignment model spans what have been described as Bcl-2 homology regions BH1, BH2, BH3, and BH4. Many members of this family have an additional C-terminal transmembrane ...
  2. XM_011511696.1XP_011509998.1  

    See identical proteins and their annotated locations for XP_011509998.1

    UniProtKB/Swiss-Prot
    Q9UMX3
    UniProtKB/TrEMBL
    A0A024R4A8
    Conserved Domains (1) summary
    cd06845
    Location:37177
    Bcl-2_like; Apoptosis regulator proteins of the Bcl-2 family, named after B-cell lymphoma 2. This alignment model spans what have been described as Bcl-2 homology regions BH1, BH2, BH3, and BH4. Many members of this family have an additional C-terminal transmembrane ...
  3. XM_005247037.3XP_005247094.1  

    See identical proteins and their annotated locations for XP_005247094.1

    UniProtKB/Swiss-Prot
    Q9UMX3
    UniProtKB/TrEMBL
    A0A024R4A8
    Conserved Domains (1) summary
    cd06845
    Location:37177
    Bcl-2_like; Apoptosis regulator proteins of the Bcl-2 family, named after B-cell lymphoma 2. This alignment model spans what have been described as Bcl-2 homology regions BH1, BH2, BH3, and BH4. Many members of this family have an additional C-terminal transmembrane ...
  4. XM_005247039.3XP_005247096.1  

    Conserved Domains (1) summary
    cd06845
    Location:499
    Bcl-2_like; Apoptosis regulator proteins of the Bcl-2 family, named after B-cell lymphoma 2. This alignment model spans what have been described as Bcl-2 homology regions BH1, BH2, BH3, and BH4. Many members of this family have an additional C-terminal transmembrane ...

Alternate CHM1_1.1

Genomic

  1. NC_018913.2 Alternate CHM1_1.1

    Range
    242504201..242519152
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)