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BOK BCL2 family apoptosis regulator BOK [ Homo sapiens (human) ]

Gene ID: 666, updated on 24-Nov-2020

Summary

Official Symbol
BOKprovided by HGNC
Official Full Name
BCL2 family apoptosis regulator BOKprovided by HGNC
Primary source
HGNC:HGNC:1087
See related
Ensembl:ENSG00000176720 MIM:605404
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]
Expression
Broad expression in fat (RPKM 69.1), liver (RPKM 18.4) and 16 other tissues See more
Orthologs

Genomic context

See BOK in Genome Data Viewer
Location:
2q37.3
Exon count:
7
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (241558745..241574131)
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 uncharacterized LOC107985788 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 Neighboring gene autophagy related 4B cysteine peptidase

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
GeneReviews: Not available
Voxelwise genome-wide association study (vGWAS).
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
protein heterodimerization activity ISS
Inferred from Sequence or Structural Similarity
more info
 
protein homodimerization activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein homodimerization activity ISS
Inferred from Sequence or Structural Similarity
more info
 
protein-containing complex binding IEA
Inferred from Electronic Annotation
more info
 
signaling receptor binding IEA
Inferred from Electronic Annotation
more info
 
ubiquitin protein ligase binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
activation of cysteine-type endopeptidase activity involved in apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c ISS
Inferred from Sequence or Structural Similarity
more info
 
apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
brain development IEA
Inferred from Electronic Annotation
more info
 
cellular component disassembly involved in execution phase of apoptosis ISS
Inferred from Sequence or Structural Similarity
more info
 
extrinsic apoptotic signaling pathway in absence of ligand IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
male gonad development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of mitochondrial depolarization IEA
Inferred from Electronic Annotation
more info
 
negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway IEA
Inferred from Electronic Annotation
more info
 
negative regulation of necroptotic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of neuron apoptotic process 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 PERK-mediated unfolded protein response ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of execution phase of apoptosis IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of intrinsic apoptotic signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
protein complex oligomerization ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of autophagy IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of chorionic trophoblast cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
regulation of cytosolic calcium ion concentration IEA
Inferred from Electronic Annotation
more info
 
regulation of granulosa cell apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
release of cytochrome c from mitochondria IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
cis-Golgi network membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
early endosome membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrial inner membrane IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial membrane IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial outer membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
nuclear outer membrane IEA
Inferred from Electronic Annotation
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
recycling endosome membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
trans-Golgi network membrane ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
bcl-2-related ovarian killer protein
Names
BCL2 related ovarian killer
BOK, BCL2 family apoptosis regulator
bcl-2-like protein 9
bcl2-L-9
hBOK

NCBI Reference Sequences (RefSeq)

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
    4969..20355
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_032515.5NP_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
    ENSP00000314132.3, ENST00000318407.5
    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 Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    241558745..241574131
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017004775.1XP_016860264.1  bcl-2-related ovarian killer protein isoform X2

    UniProtKB/Swiss-Prot
    Q9UMX3
    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 ...
  2. XM_011511697.3XP_011509999.1  bcl-2-related ovarian killer protein isoform X3

    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 ...
  3. XM_017004776.1XP_016860265.1  bcl-2-related ovarian killer protein isoform X2

    UniProtKB/Swiss-Prot
    Q9UMX3
    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 ...
  4. XM_011511696.2XP_011509998.1  bcl-2-related ovarian killer protein isoform X1

    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 ...
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