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Aliases for BOK Gene

Aliases for BOK Gene

  • BOK, BCL2 Family Apoptosis Regulator 2 3
  • BCL2 Related Ovarian Killer 2 3
  • Bcl-2-Like Protein 9 3 4
  • Bcl2-L-9 3 4
  • BCL2L9 3 4
  • HBOK 3 4
  • Bcl-2-Related Ovarian Killer Protein 3
  • BCL2-Related Ovarian Killer 5
  • BOKL 3

External Ids for BOK Gene

Previous GeneCards Identifiers for BOK Gene

  • GC02U990010
  • GC02M239779
  • GC02P242517
  • GC02P242818
  • GC02P242218
  • GC02P242146
  • GC02P234252
  • GC02P242498

Summaries for BOK Gene

Entrez Gene Summary for BOK Gene

  • 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]

GeneCards Summary for BOK Gene

BOK (BOK, BCL2 Family Apoptosis Regulator) is a Protein Coding gene. Among its related pathways are Apoptosis - multiple species and Apoptosis Modulation and Signaling. GO annotations related to this gene include protein homodimerization activity and protein dimerization activity.

UniProtKB/Swiss-Prot for BOK Gene

  • Induces apoptosis in a manner dependent on BAX and BAK.

Gene Wiki entry for BOK Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BOK Gene

Genomics for BOK Gene

Regulatory Elements for BOK Gene

Enhancers for BOK Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around BOK on UCSC Golden Path with GeneCards custom track

Promoters for BOK Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around BOK on UCSC Golden Path with GeneCards custom track

Genomic Location for BOK Gene

Chromosome:
2
Start:
241,558,064 bp from pter
End:
241,574,138 bp from pter
Size:
16,075 bases
Orientation:
Plus strand

Genomic View for BOK Gene

Genes around BOK on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BOK Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BOK Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BOK Gene

Proteins for BOK Gene

  • Protein details for BOK Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UMX3-BOK_HUMAN
    Recommended name:
    Bcl-2-related ovarian killer protein
    Protein Accession:
    Q9UMX3

    Protein attributes for BOK Gene

    Size:
    212 amino acids
    Molecular mass:
    23280 Da
    Quaternary structure:
    No Data Available

neXtProt entry for BOK Gene

Post-translational modifications for BOK Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for BOK Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for Bok

No data available for DME Specific Peptides for BOK Gene

Domains & Families for BOK Gene

Gene Families for BOK Gene

Suggested Antigen Peptide Sequences for BOK Gene

Graphical View of Domain Structure for InterPro Entry

Q9UMX3

UniProtKB/Swiss-Prot:

BOK_HUMAN :
  • Belongs to the Bcl-2 family.
Family:
  • Belongs to the Bcl-2 family.
genes like me logo Genes that share domains with BOK: view

Function for BOK Gene

Molecular function for BOK Gene

UniProtKB/Swiss-Prot Function:
Induces apoptosis in a manner dependent on BAX and BAK.

Gene Ontology (GO) - Molecular Function for BOK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 15868100
GO:0042803 protein homodimerization activity IBA --
GO:0046982 protein heterodimerization activity IEA,IBA --
GO:0046983 protein dimerization activity IEA --
GO:0051400 BH domain binding IEA --
genes like me logo Genes that share ontologies with BOK: view
genes like me logo Genes that share phenotypes with BOK: view

Animal Models for BOK Gene

MGI Knock Outs for BOK:
  • Bok tm1b(EUCOMM)Hmgu
  • Bok tm1.1Ast

Animal Model Products

CRISPR Products

miRNA for BOK Gene

miRTarBase miRNAs that target BOK

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for BOK Gene

Localization for BOK Gene

Subcellular locations from UniProtKB/Swiss-Prot for BOK Gene

Endoplasmic reticulum membrane; Single-pass membrane protein. Golgi apparatus membrane; Single-pass membrane protein. Note=The transmembrane domain is necessary and sufficient for Golgi and ER targeting. {ECO:0000269 PubMed:23429263}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for BOK Gene COMPARTMENTS Subcellular localization image for BOK gene
Compartment Confidence
mitochondrion 5
nucleus 5
endoplasmic reticulum 4
golgi apparatus 3
cytosol 2
extracellular 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for BOK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005634 nucleus IDA 19095301
GO:0005737 cytoplasm IDA 15868100
GO:0005739 mitochondrion IEA,IDA 19095301
GO:0005741 mitochondrial outer membrane IBA --
genes like me logo Genes that share ontologies with BOK: view

Pathways & Interactions for BOK Gene

genes like me logo Genes that share pathways with BOK: view

Pathways by source for BOK Gene

3 BioSystems pathways for BOK Gene
1 KEGG pathway for BOK Gene

Gene Ontology (GO) - Biological Process for BOK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006915 apoptotic process IEA,IDA 15102863
GO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process IMP 20673843
GO:0007420 brain development IEA --
GO:0008283 cell proliferation IEP 19095301
GO:0008584 male gonad development IEA --
genes like me logo Genes that share ontologies with BOK: view

No data available for SIGNOR curated interactions for BOK Gene

Drugs & Compounds for BOK Gene

(9) Drugs for BOK Gene - From: ApexBio and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
AT-101 Pharma BH3-mimetic,gossypol enantiomer, BCL-2 inhibitors 0
Bax inhibitor peptide P5 Pharma Bax inhibitor 0
Bax inhibitor peptide V5 Pharma Bax inhibitor 0
Gossypol Pharma PAF inhibitor;anti-fertility and anti-cancer, Proapoptotic; downregulates Bcl-2 and Bcl-XL 24

(2) Additional Compounds for BOK Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(4) ApexBio Compounds for BOK Gene

Compound Action Cas Number
AT-101 BH3-mimetic,gossypol enantiomer 90141-22-3
Bax inhibitor peptide P5 Bax inhibitor 579492-83-4
Bax inhibitor peptide V5 Bax inhibitor 579492-81-2
Gossypol PAF inhibitor;anti-fertility and anti-cancer 303-45-7
genes like me logo Genes that share compounds with BOK: view

Transcripts for BOK Gene

mRNA/cDNA for BOK Gene

Unigene Clusters for BOK Gene

BCL2-related ovarian killer:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for BOK Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c · 6d · 6e
SP1: - -
SP2: - - -
SP3:
SP4: - - - -
SP5: - - -

Relevant External Links for BOK Gene

GeneLoc Exon Structure for
BOK
ECgene alternative splicing isoforms for
BOK

Expression for BOK Gene

mRNA expression in normal human tissues for BOK Gene

mRNA differential expression in normal tissues according to GTEx for BOK Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x4.7) and Liver (x4.2).

Protein differential expression in normal tissues from HIPED for BOK Gene

This gene is overexpressed in Liver (11.6), Urinary Bladder (10.0), Rectum (9.5), Prostate (9.2), and Fetal gut (8.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for BOK Gene



NURSA nuclear receptor signaling pathways regulating expression of BOK Gene:

BOK

SOURCE GeneReport for Unigene cluster for BOK Gene:

Hs.293753

mRNA Expression by UniProt/SwissProt for BOK Gene:

Q9UMX3-BOK_HUMAN
Tissue specificity: Expressed in brain, liver, appendix and lymphoid tissues.
genes like me logo Genes that share expression patterns with BOK: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein tissue co-expression partners for BOK Gene

Orthologs for BOK Gene

This gene was present in the common ancestor of animals.

Orthologs for BOK Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia BOK 34
  • 89.78 (n)
  • 94.81 (a)
BOK 35
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BOK 34
  • 91.67 (n)
  • 90.79 (a)
BOK 35
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Bok 34
  • 88.68 (n)
  • 95.75 (a)
Bok 16
Bok 35
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia BOK 34
  • 97.79 (n)
  • 98.1 (a)
BOK 35
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bok 34
  • 88.21 (n)
  • 95.75 (a)
oppossum
(Monodelphis domestica)
Mammalia BOK 35
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BOK 35
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves BOK 34
  • 78.62 (n)
  • 81.6 (a)
BOK 35
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BOK 35
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bok 34
  • 64.62 (n)
  • 70.28 (a)
zebrafish
(Danio rerio)
Actinopterygii boka 34
  • 68.57 (n)
  • 68.1 (a)
zgc64041 34
boka 35
  • 64 (a)
OneToMany
bokb 35
  • 56 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Buffy 34
  • 48.77 (n)
  • 35.19 (a)
Buffy 35
  • 21 (a)
OneToMany
debcl 35
  • 21 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2249 35
  • 20 (a)
OneToOne
Species where no ortholog for BOK was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for BOK Gene

ENSEMBL:
Gene Tree for BOK (if available)
TreeFam:
Gene Tree for BOK (if available)

Paralogs for BOK Gene

No data available for Paralogs for BOK Gene

Variants for BOK Gene

Sequence variations from dbSNP and Humsavar for BOK Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1128528 -- 241,573,555(+) TGACA(C/T)CCACT utr-variant-3-prime
rs6710454 -- 241,572,075(+) CTCCC(A/G)TGCCT intron-variant
rs7598295 -- 241,569,598(+) GCTCA(C/T)GTATA intron-variant
rs1553470 -- 241,561,146(-) TGATA(A/C)AGGCT intron-variant
rs12695002 -- 241,563,632(+) CACAC(C/T)CTTGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for BOK Gene

Variant ID Type Subtype PubMed ID
dgv7390n54 CNV loss 21841781
dgv7391n54 CNV loss 21841781
dgv7392n54 CNV loss 21841781
dgv7393n54 CNV loss 21841781
dgv7394n54 CNV loss 21841781
esv2233361 CNV deletion 18987734
esv2634239 CNV deletion 19546169
esv2668476 CNV deletion 23128226
esv27015 CNV gain 19812545
esv2722008 CNV deletion 23290073
esv2722009 CNV deletion 23290073
esv2722010 CNV deletion 23290073
esv2759120 CNV loss 17122850
esv27771 CNV loss 19812545
esv3561311 CNV deletion 23714750
esv3594835 CNV loss 21293372
esv3594836 CNV loss 21293372
esv9037 CNV loss 19470904
nsv1153946 CNV deletion 26484159
nsv584960 CNV loss 21841781
nsv584966 CNV loss 21841781
nsv584970 CNV loss 21841781
nsv584971 CNV gain 21841781
nsv834588 CNV loss 17160897
nsv955299 CNV deletion 24416366

Variation tolerance for BOK Gene

Residual Variation Intolerance Score: 53.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.23; 40.20% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BOK Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
BOK

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BOK Gene

Disorders for BOK Gene

Relevant External Links for BOK

Genetic Association Database (GAD)
BOK
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BOK

No disorders were found for BOK Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for BOK Gene

Publications for BOK Gene

  1. Evolutionarily conserved Bok proteins in the Bcl-2 family. (PMID: 11034351) Zhang H. … De Geyter C. (FEBS Lett. 2000) 2 3 4 65
  2. Voxelwise genome-wide association study (vGWAS). (PMID: 20171287) Stein J.L. … Thompson P. (Neuroimage 2010) 3 46 65
  3. A natural antisense transcript, BOKAS, regulates the pro-apoptotic activity of human Bok. (PMID: 19287972) Zhang H. … De Geyter C. (Int. J. Oncol. 2009) 3 22 65
  4. BOK and NOXA are essential mediators of p53-dependent apoptosis. (PMID: 15102863) Yakovlev A.G. … Faden A.I. (J. Biol. Chem. 2004) 2 3 65
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 65

Products for BOK Gene

Sources for BOK Gene

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