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

    Gene ID: 666, updated on 3-Dec-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See BOK in Genome Data Viewer
    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_000002.12Genomic Context describing neighboring genes Neighboring gene FERM, ARH/RhoGEF and pleckstrin domain protein 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242422458-242422958 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242422959-242423459 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242429627-242430140 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242430141-242430656 Neighboring gene KCTD5 pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242445132-242445668 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17427 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12539 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12540 Neighboring gene uncharacterized LOC107985788 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:242460159-242460383 Neighboring gene serine/threonine kinase 25 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17428 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12542 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12541 Neighboring gene uncharacterized LOC105373974 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:242486359-242486892 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242490880-242491690 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12543 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12544 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12545 Neighboring gene BOK antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:242509471-242510095 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242515160-242515660 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:242518885-242519386 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:242519387-242519886 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242523714-242524242 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:242529014-242529910 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:242529911-242530805 Neighboring gene RNA, 5S ribosomal pseudogene 122 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_58008 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:242548955-242549456 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:242549457-242549957 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:242550174-242550694 Neighboring gene THAP domain containing 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242554967-242555773 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17429 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12547 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12549 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12548 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:242576729-242577656 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242578056-242578589 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242584167-242584667 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242584739-242585240 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242596891-242597666 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242600039-242600540 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242600541-242601040 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242604899-242605504 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242607599-242608100 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242608101-242608600 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

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC4631

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables BH domain binding IEA
    Inferred from Electronic Annotation
    more info
     
    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 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 cysteine-type endopeptidase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of cysteine-type endopeptidase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    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 
    involved_in transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    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

    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)

    NEW Try the new Transcript table

    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, A0A481T0E4, Q9UL32
      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: 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

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      241551393..241574131
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      UniProtKB/TrEMBL
      A0A4D6NU76, Q53NU8
    2. XM_011511696.3XP_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: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_011511697.4XP_011509999.1  bcl-2-related ovarian killer protein isoform X3

      UniProtKB/TrEMBL
      A0A481T0W6
      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 ...
    4. XM_047445590.1XP_047301546.1  bcl-2-related ovarian killer protein isoform X3

      UniProtKB/TrEMBL
      A0A481T0W6
    5. XM_047445589.1XP_047301545.1  bcl-2-related ovarian killer protein isoform X3

      UniProtKB/TrEMBL
      A0A481T0W6
    6. XM_047445587.1XP_047301543.1  bcl-2-related ovarian killer protein isoform X2

      UniProtKB/TrEMBL
      A0A4D6NU76, Q53NU8

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      242051239..242074030
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      UniProtKB/TrEMBL
      A0A4D6NU76, Q53NU8
    2. XM_054343531.1XP_054199506.1  bcl-2-related ovarian killer protein isoform X3

      UniProtKB/TrEMBL
      A0A481T0W6
    3. XM_054343527.1XP_054199502.1  bcl-2-related ovarian killer protein isoform X1

      UniProtKB/Swiss-Prot
      Q9UMX3
      UniProtKB/TrEMBL
      A0A024R4A8, A0A481T0E4, Q9UL32
    4. XM_054343533.1XP_054199508.1  bcl-2-related ovarian killer protein isoform X3

      UniProtKB/TrEMBL
      A0A481T0W6
    5. XM_054343528.1XP_054199503.1  bcl-2-related ovarian killer protein isoform X1

      UniProtKB/Swiss-Prot
      Q9UMX3
      UniProtKB/TrEMBL
      A0A024R4A8, A0A481T0E4, Q9UL32
    6. XM_054343532.1XP_054199507.1  bcl-2-related ovarian killer protein isoform X3

      UniProtKB/TrEMBL
      A0A481T0W6
    7. XM_054343529.1XP_054199504.1  bcl-2-related ovarian killer protein isoform X2

      UniProtKB/TrEMBL
      A0A4D6NU76, Q53NU8