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BOK Gene(Protein Coding)

BOK, BCL2 Family Apoptosis Regulator

GCID:
GC02P241558
GIFtS:
47
Genes Participants
UDN Logo

Aliases for BOK Gene

Aliases for BOK Gene

  • BOK, BCL2 Family Apoptosis Regulator 2 3 5
  • 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
  • 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 Modulation and Signaling and Nanomaterial induced apoptosis. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and protein dimerization activity.

UniProtKB/Swiss-Prot for BOK Gene

  • Isoform 1: Apoptosis regulator that functions through different apoptotic signaling pathways (PubMed:27076518, PubMed:15102863, PubMed:20673843). Plays a roles as pro-apoptotic protein that positively regulates intrinsic apoptotic process in a BAX- and BAK1-dependent manner or in a BAX- and BAK1-independent manner (PubMed:27076518, PubMed:15102863). In response to endoplasmic reticulum stress promotes mitochondrial apoptosis through downstream BAX/BAK1 activation and positive regulation of PERK-mediated unfolded protein response (By similarity). Activates apoptosis independently of heterodimerization with survival-promoting BCL2 and BCL2L1 through induction of mitochondrial outer membrane permeabilization, in a BAX- and BAK1-independent manner, in response to inhibition of ERAD-proteasome degradation system, resulting in cytochrome c release (PubMed:27076518). In response to DNA damage, mediates intrinsic apoptotic process in a TP53-dependent manner (PubMed:15102863). Plays a role in granulosa cell apoptosis by CASP3 activation (PubMed:20673843). Plays a roles as anti-apoptotic protein during neuronal apototic process, by negatively regulating poly ADP-ribose polymerase-dependent cell death through regulation of neuronal calcium homeostasis and mitochondrial bioenergetics in response to NMDA excitation (By similarity). In addition to its role in apoptosis, may regulate trophoblast cell proliferation during the early stages of placental development, by acting on G1/S transition through regulation of CCNE1 expression (PubMed:19942931). May also play a role as an inducer of autophagy by disrupting interaction between MCL1 and BECN1 (PubMed:24113155).

  • Isoform 2: Pro-apoptotic molecule exerting its function through the mitochondrial pathway.

Gene Wiki entry for BOK Gene

Additional gene information for BOK Gene

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

Genomics for BOK Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for BOK Gene

Promoters and enhancers for BOK Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH02I241558 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE 563 +8.3 8276 3.4 ELF3 FOXA2 RB1 ARID4B SIN3A ZNF48 ZSCAN9 YY1 EGR1 RCOR1 BOK BOK-AS1 STK25 ANO7 PASK PPP1R7 ING5 ATG4B NEU4 LOC105373975
GH02I241551 Enhancer 1.1 Ensembl ENCODE 561.8 +0.8 772 1.6 MLX ARID4B DMAP1 ZNF48 ZSCAN9 RAD21 RARA CREM THAP11 EGR2 BOK ING5 D2HGDH BOK-AS1
GH02I241609 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 34 +58.8 58823 2.1 HDGF PKNOX1 MLX ARID4B SIN3A DMAP1 ZNF48 GLIS2 ELK1 ZNF207 BOK ENSG00000223374 BOK-AS1 D2HGDH SNED1 ANO7 ENSG00000235351 RNA5SP122 ATG4B THAP4
GH02I241616 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 23.4 +67.6 67583 4.1 HDGF PKNOX1 ARNT GLI4 YY1 ETS1 ZNF143 FOS KLF13 SP3 THAP4 ING5 ENSG00000223374 SNED1 ENSG00000235351 MTERF4 FARP2 BOK D2HGDH DTYMK
GH02I241635 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 14.7 +86.2 86178 4 PKNOX1 SMAD1 ARID4B SIN3A DMAP1 YY1 ZNF766 E2F8 ZNF207 ZNF143 ATG4B THAP4 BOK RNA5SP122 ING5 GC02M241661
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around BOK on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the BOK gene promoter:

Genomic Locations for BOK Gene

Genomic Locations for BOK Gene
chr2:241,551,424-241,574,138
(GRCh38/hg38)
Size:
22,715 bases
Orientation:
Plus strand
chr2:242,498,136-242,513,553
(GRCh37/hg19)

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 Structure • Gene Density

RefSeq DNA sequence for BOK Gene

Proteins for BOK Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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:
    • Monomer; positively regulates apoptotic process. Homodimer (By similarity). Heterodimer (By similarity). Oligomer; promoted by apoptotic stimuli and BH3-only proteins; mediates constitutive activation (PubMed:15868100). Interacts (via BH4 domain) with ITPR1; enhances BOK expression and stabilization; limits apoptosis and prevents ubiquitination and then degradation; protects ITPR1 from proteolysis by CASP3 during apoptosis (PubMed:23884412). Interacts with ITPR2 AND ITPR3; binds most strongly to ITPR2, and barely to ITPR3; regulates their expression (By similarity). Interacts with XPO1; translocates to the cytoplasm (PubMed:16302269). Interacts with BNIP3; promotes oligomerization (PubMed:15868100).

    Alternative splice isoforms for BOK Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BOK Gene

Protein Expression for BOK Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for BOK Gene

  • Ubiquitinated by AMFR/gp78 E3 ubiquitin ligase complex; mediates degradation by ubiquitin-proteasome pathway in a VCP/p97-dependent manner; prevents from pro-apoptotic activity; promotes degradation of newly synthesized proteins that are not ITPR1 associated.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for BOK Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for BOK Gene

Domains & Families for BOK Gene

Gene Families for BOK Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted membrane proteins

Protein Domains for BOK Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for BOK Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UMX3

UniProtKB/Swiss-Prot:

BOK_HUMAN :
  • BH4 domain mediates interaction with ITPR1.
  • Belongs to the Bcl-2 family.
Domain:
  • BH4 domain mediates interaction with ITPR1.
Family:
  • Belongs to the Bcl-2 family.
genes like me logo Genes that share domains with BOK: view

Function for BOK Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for BOK Gene

UniProtKB/Swiss-Prot Function:
Isoform 1: Apoptosis regulator that functions through different apoptotic signaling pathways (PubMed:27076518, PubMed:15102863, PubMed:20673843). Plays a roles as pro-apoptotic protein that positively regulates intrinsic apoptotic process in a BAX- and BAK1-dependent manner or in a BAX- and BAK1-independent manner (PubMed:27076518, PubMed:15102863). In response to endoplasmic reticulum stress promotes mitochondrial apoptosis through downstream BAX/BAK1 activation and positive regulation of PERK-mediated unfolded protein response (By similarity). Activates apoptosis independently of heterodimerization with survival-promoting BCL2 and BCL2L1 through induction of mitochondrial outer membrane permeabilization, in a BAX- and BAK1-independent manner, in response to inhibition of ERAD-proteasome degradation system, resulting in cytochrome c release (PubMed:27076518). In response to DNA damage, mediates intrinsic apoptotic process in a TP53-dependent manner (PubMed:15102863). Plays a role in granulosa cell apoptosis by CASP3 activation (PubMed:20673843). Plays a roles as anti-apoptotic protein during neuronal apototic process, by negatively regulating poly ADP-ribose polymerase-dependent cell death through regulation of neuronal calcium homeostasis and mitochondrial bioenergetics in response to NMDA excitation (By similarity). In addition to its role in apoptosis, may regulate trophoblast cell proliferation during the early stages of placental development, by acting on G1/S transition through regulation of CCNE1 expression (PubMed:19942931). May also play a role as an inducer of autophagy by disrupting interaction between MCL1 and BECN1 (PubMed:24113155).
UniProtKB/Swiss-Prot Function:
Isoform 2: Pro-apoptotic molecule exerting its function through the mitochondrial pathway.
UniProtKB/Swiss-Prot Induction:
Up-regulated by DNA damage.

Phenotypes From GWAS Catalog for BOK Gene

Gene Ontology (GO) - Molecular Function for BOK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 receptor binding IEA --
GO:0005515 protein binding IPI 15868100
GO:0031625 ubiquitin protein ligase binding IEA --
GO:0042803 protein homodimerization activity ISS,IEA --
GO:0046982 protein heterodimerization activity ISS,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 tm1.1Ast
  • Bok tm1b(EUCOMM)Hmgu

Animal Model Products

miRNA for BOK Gene

miRTarBase miRNAs that target BOK

Clone 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

Isoform 1: Mitochondrion membrane; Single-pass membrane protein. Endoplasmic reticulum membrane; Single-pass membrane protein. Mitochondrion inner membrane. Cytoplasm. Nucleus. Mitochondrion. Endoplasmic reticulum. Mitochondrion outer membrane. Early endosome membrane. Recycling endosome membrane. Nucleus outer membrane. Golgi apparatus, cis-Golgi network membrane. Golgi apparatus, trans-Golgi network membrane. Membrane. Note=Nuclear and cytoplasmic compartments in the early stages of apoptosis and during apoptosis it associates with mitochondria (PubMed:19942931). In healthy cells, associates loosely with the membrane in a hit-and-run mode. The insertion and accumulation on membranes is enhanced through the activity of death signals, resulting in the integration of the membrane-bound protein into the membrane (PubMed:15868100). The transmembrane domain controls subcellular localization; constitutes a tail-anchor. Localizes in early and late endosome upon blocking of apoptosis. Must localize to the mitochondria to induce mitochondrial outer membrane permeabilization and apoptosis (By similarity). {ECO:0000250 UniProtKB:O35425, ECO:0000269 PubMed:15868100, ECO:0000269 PubMed:19942931}.
Isoform 2: Membrane. Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BOK gene
Compartment Confidence
mitochondrion 5
nucleus 5
endoplasmic reticulum 5
golgi apparatus 5
endosome 4
extracellular 2
cytosol 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for BOK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 16302269
GO:0005640 nuclear outer membrane IEA --
GO:0005737 cytoplasm IDA,IEA 15868100
GO:0005739 mitochondrion IEA,IDA 15102863
GO:0005741 mitochondrial outer membrane IBA --
genes like me logo Genes that share ontologies with BOK: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for BOK Gene

Pathways & Interactions for BOK Gene

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

Pathways by source for BOK Gene

1 KEGG pathway for BOK Gene
1 Cell Signaling Technology pathway for BOK Gene

Gene Ontology (GO) - Biological Process for BOK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001836 release of cytochrome c from mitochondria IDA 27505430
GO:0006915 apoptotic process IDA,IEA 15102863
GO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process IMP 20673843
GO:0006921 cellular component disassembly involved in execution phase of apoptosis IEA,ISS --
GO:0007420 brain 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

Products:

  1. Drug

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Gossypol Investigational Pharma PAF inhibitor;anti-fertility and anti-cancer 24
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

(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

Drug Products

Transcripts for BOK Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for BOK Gene

(5) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(181) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for BOK Gene

BCL2-related ovarian killer:
Representative Sequences:

Clone 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

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for BOK Gene

mRNA expression in normal human tissues for BOK Gene
mRNA expression by GTEx for BOK GenemRNA expression by BioGPS 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 mainly in oocytes; weak expression in granulosa cells of the developing follicles. In adult human ovaries, expressed in granulosa cells at all follicular stages, but expression in primordial/primary follicles granulosa cell is stronger than in secondary and antral follicles.

Evidence on tissue expression from TISSUES for BOK Gene

  • Muscle(4.2)
  • Nervous system(3.9)
  • Liver(2.1)
genes like me logo Genes that share expression patterns with BOK: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
 Mammalia BOK 33 34
  • 97.79 (n)
dog
(Canis familiaris)
 Mammalia BOK 33 34
  • 91.67 (n)
cow
(Bos Taurus)
 Mammalia BOK 33 34
  • 89.78 (n)
mouse
(Mus musculus)
 Mammalia Bok 33 16 34
  • 88.68 (n)
rat
(Rattus norvegicus)
 Mammalia Bok 33
  • 88.21 (n)
oppossum
(Monodelphis domestica)
 Mammalia BOK 34
  • 81 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia BOK 34
  • 79 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves BOK 33 34
  • 78.62 (n)
lizard
(Anolis carolinensis)
 Reptilia BOK 34
  • 76 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia bok 33
  • 64.62 (n)
zebrafish
(Danio rerio)
 Actinopterygii boka 33 34
  • 68.57 (n)
bokb 34
  • 56 (a)
 OneToMany
zgc64041 33
fruit fly
(Drosophila melanogaster)
 Insecta Buffy 33 34
  • 48.77 (n)
debcl 34
  • 21 (a)
 OneToMany
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.2249 34
  • 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

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for BOK Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1000052399 -- 241,562,743(+) C/T intron_variant
rs1000510401 -- 241,557,852(+) T/A upstream_transcript_variant
rs1000510541 -- 241,565,109(+) C/T intron_variant
rs1000905832 -- 241,565,812(+) G/A intron_variant
rs1000929515 -- 241,571,188(+) A/G 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)

Additional Variant Information for BOK Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for BOK Gene

Additional Disease Information for BOK

Genetic Association Database
(GAD)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

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. BOK and NOXA are essential mediators of p53-dependent apoptosis. (PMID: 15102863) Yakovlev AG … Faden AI (The Journal of biological chemistry 2004) 2 3 4 58
  2. Evolutionarily conserved Bok proteins in the Bcl-2 family. (PMID: 11034351) Zhang H … De Geyter C (FEBS letters 2000) 2 3 4 58
  3. Bok is a genuine multi-BH-domain protein that triggers apoptosis in the absence of Bax and Bak. (PMID: 27076518) Einsele-Scholz S … Essmann F (Journal of cell science 2016) 3 4 58
  4. The Bcl-2 protein family member Bok binds to the coupling domain of inositol 1,4,5-trisphosphate receptors and protects them from proteolytic cleavage. (PMID: 23884412) Schulman JJ … Wojcikiewicz RJ (The Journal of biological chemistry 2013) 3 4 58
  5. Placental autophagy regulation by the BOK-MCL1 rheostat. (PMID: 24113155) Kalkat M … Caniggia I (Autophagy 2013) 3 4 58

Products for BOK Gene

Sources for BOK Gene

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