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

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; AllianceGenome:HGNC:1087
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: mouse all
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Genomic context

Location:: 2q37.3

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (241551393..241574131)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (242051239..242074030)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (242498160..242513546)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

BCL-2 and BOK regulate apoptosis by interaction of their C-terminal transmembrane domains.
Title: BCL-2 and BOK regulate apoptosis by interaction of their C-terminal transmembrane domains.
The BCL-2 family member BOK promotes KRAS-driven lung cancer progression in a p53-dependent manner.
Title: The BCL-2 family member BOK promotes KRAS-driven lung cancer progression in a p53-dependent manner.
Bok binds to a largely disordered loop in the coupling domain of type 1 inositol 1,4,5-trisphosphate receptor.
Title: Bok binds to a largely disordered loop in the coupling domain of type 1 inositol 1,4,5-trisphosphate receptor.
Genetic effects on planum temporale asymmetry and their limited relevance to neurodevelopmental disorders, intelligence or educational attainment.
Title: Genetic effects on planum temporale asymmetry and their limited relevance to neurodevelopmental disorders, intelligence or educational attainment.
The Mysteries around the BCL-2 Family Member BOK.
Title: The Mysteries around the BCL-2 Family Member BOK.
Mcl-1 and Bok transmembrane domains: Unexpected players in the modulation of apoptosis.
Title: Mcl-1 and Bok transmembrane domains: Unexpected players in the modulation of apoptosis.
Bok regulates mitochondrial fusion and morphology.
Title: Bok regulates mitochondrial fusion and morphology.
BOK-mediated membrane permeabilization is governed in part by its unique metastability of the hydrophobic groove and helix alpha1 and not through activation by BH3 ligands.
Title: Intrinsic Instability of BOK Enables Membrane Permeabilization in Apoptosis.
CER/BOK-induced regulation of mitochondrial fission and its functional consequence for heightened trophoblast cell autophagy in preeclampsia.
Title: Ceramide-induced BOK promotes mitochondrial fission in preeclampsia.
BOK downregulation may be associated with tumorigenesis of testicular cancer (TC); BOK had the potency to suppress TC cell proliferation and invasion, and BOK also contributes to Cisplatin resistance.
Title: B-cell lymphoma 2 ovarian killer suppresses testicular cancer cell malignant behavior, but plays a role in platinum resistance.

Submit: New GeneRIF Correction See all GeneRIFs (25)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. EBI GWAS Catalog EBI GWAS CatalogPubMed
Voxelwise genome-wide association study (vGWAS). EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH78529 (e-PCR)
- UniSTS:31503

RH80183 (e-PCR)
- UniSTS:87573

RH91690 (e-PCR)
- UniSTS:92830

D2S2142 (e-PCR)
- UniSTS:154274

G42020 (e-PCR)
- UniSTS:49343

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein heterodimerization activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein homodimerization activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein-containing complex binding	IEA Inferred from Electronic Annotation more info
enables signaling receptor binding	IEA Inferred from Electronic Annotation more info
enables ubiquitin protein ligase binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in activation of cysteine-type endopeptidase activity involved in apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c	ISS Inferred from Sequence or Structural Similarity more info
involved_in apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular component disassembly involved in execution phase of apoptosis	ISS Inferred from Sequence or Structural Similarity more info
involved_in extrinsic apoptotic signaling pathway in absence of ligand	IBA Inferred from Biological aspect of Ancestor more info
involved_in intrinsic apoptotic signaling pathway by p53 class mediator	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intrinsic apoptotic signaling pathway in response to DNA damage	IBA Inferred from Biological aspect of Ancestor more info
involved_in male gonad development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of mitochondrial depolarization	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of necroptotic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of neuron apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in neuron apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in oligodendrocyte differentiation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of PERK-mediated unfolded protein response	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of apoptotic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of execution phase of apoptosis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of intrinsic apoptotic signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein complex oligomerization	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of autophagy	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of chorionic trophoblast cell proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of cytosolic calcium ion concentration	IEA Inferred from Electronic Annotation more info
involved_in regulation of granulosa cell apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in release of cytochrome c from mitochondria	IBA Inferred from Biological aspect of Ancestor more info
involved_in release of cytochrome c from mitochondria	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
located_in cis-Golgi network membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in early endosome membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial inner membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in mitochondrial outer membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear outer membrane	IEA Inferred from Electronic Annotation more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in recycling endosome membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in trans-Golgi network membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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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)

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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

NG_029488.1 RefSeqGene

Range

4969..20355

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_032515.5 → NP_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, A0A481T0E4, Q9UL32

Related

ENSP00000314132.3, ENST00000318407.5

Conserved Domains (1) summary

cd06845
Location:37 → 177

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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

241551393..241574131

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047445588.1 → XP_047301544.1 bcl-2-related ovarian killer protein isoform X2

UniProtKB/TrEMBL

A0A4D6NU76
XM_011511696.3 → XP_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, A0A481T0E4, Q9UL32

Conserved Domains (1) summary

cd06845
Location:37 → 177

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 ...
XM_011511697.4 → XP_011509999.1 bcl-2-related ovarian killer protein isoform X3

UniProtKB/TrEMBL

A0A481T0W6

Conserved Domains (1) summary

cl02575
Location:37 → 115

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 ...
XM_047445590.1 → XP_047301546.1 bcl-2-related ovarian killer protein isoform X3

UniProtKB/TrEMBL

A0A481T0W6
XM_047445589.1 → XP_047301545.1 bcl-2-related ovarian killer protein isoform X3

UniProtKB/TrEMBL

A0A481T0W6
XM_047445587.1 → XP_047301543.1 bcl-2-related ovarian killer protein isoform X2

UniProtKB/TrEMBL

A0A4D6NU76

Alternate T2T-CHM13v2.0

Genomic

NC_060926.1 Alternate T2T-CHM13v2.0

Range

242051239..242074030

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054343530.1 → XP_054199505.1 bcl-2-related ovarian killer protein isoform X2

UniProtKB/TrEMBL

A0A4D6NU76
XM_054343531.1 → XP_054199506.1 bcl-2-related ovarian killer protein isoform X3

UniProtKB/TrEMBL

A0A481T0W6
XM_054343527.1 → XP_054199502.1 bcl-2-related ovarian killer protein isoform X1

UniProtKB/Swiss-Prot

Q9UMX3

UniProtKB/TrEMBL

A0A024R4A8, A0A481T0E4
XM_054343533.1 → XP_054199508.1 bcl-2-related ovarian killer protein isoform X3

UniProtKB/TrEMBL

A0A481T0W6
XM_054343528.1 → XP_054199503.1 bcl-2-related ovarian killer protein isoform X1

UniProtKB/Swiss-Prot

Q9UMX3

UniProtKB/TrEMBL

A0A024R4A8, A0A481T0E4
XM_054343532.1 → XP_054199507.1 bcl-2-related ovarian killer protein isoform X3

UniProtKB/TrEMBL

A0A481T0W6
XM_054343529.1 → XP_054199504.1 bcl-2-related ovarian killer protein isoform X2

UniProtKB/TrEMBL

A0A4D6NU76