Gene Gene information from NCBI Gene database.
Entrez ID 666
Gene name BCL2 family apoptosis regulator BOK
Gene symbol BOK
Synonyms (NCBI Gene)
BCL2L9BOKL
Chromosome 2
Chromosome location 2q37.3
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 rest
miRNA miRNA information provided by mirtarbase database.
112
miRTarBase ID miRNA Experiments Reference
MIRT043544 hsa-miR-331-3p CLASH 23622248
MIRT823668 hsa-miR-1200 CLIP-seq
MIRT823669 hsa-miR-1248 CLIP-seq
MIRT823670 hsa-miR-125a-3p CLIP-seq
MIRT823671 hsa-miR-1273f CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
77
GO ID Ontology Definition Evidence Reference
GO:0001836 Process Release of cytochrome c from mitochondria IBA
GO:0001836 Process Release of cytochrome c from mitochondria IDA 27505430
GO:0005102 Function Signaling receptor binding IEA
GO:0005515 Function Protein binding IPI 15868100, 23884412, 32814053
GO:0005634 Component Nucleus IDA 16302269, 19095301, 19942931, 20673843
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605404 1087 ENSG00000176720
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UMX3
Protein name Bcl-2-related ovarian killer protein (hBOK) (Bcl-2-like protein 9) (Bcl2-L-9)
Protein function [Isoform 1]: Apoptosis regulator that functions through different apoptotic signaling pathways (PubMed:15102863, PubMed:20673843, PubMed:27076518). Plays a roles as pro-apoptotic protein that positively regulates intrinsic apoptotic process in a
PDB 6CKV
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00452 Bcl-2 70 171 Apoptosis regulator proteins, Bcl-2 family Family
Tissue specificity 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 i
Sequence
MEVLRRSSVFAAEIMDAFDRSPTDKELVAQAKALGREYVHARLLRAGLSWSAPERAAPVP
GRLAEVCAVLLRLGDELEMIRPSVYRNVARQLHISLQSEPVVTDAFLAVAGHIFSAGITW
GKVVSLYAVAAGLAVDCVRQAQPAMVHALVDCLGEFVRKTLATWLRRRGGW
TDVLKCVVS
TDPGLRSHWLVAALCSFGRFLKAAFFVLLPER
Sequence length 212
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Apoptosis - multiple species  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
OSTEOARTHRITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 28744854
★☆☆☆☆
Found in Text Mining only
B-Cell Lymphomas B-Cell Lymphoma BEFREE 27556459
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 29156771
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 15868100 Stimulate
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 29374142
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 29374142 Inhibit
★☆☆☆☆
Found in Text Mining only
Corneal dystrophy Avellino type Corneal dystrophy Pubtator 19497990 Associate
★☆☆☆☆
Found in Text Mining only
Hypoxia Hypoxia Pubtator 15868100 Stimulate
★☆☆☆☆
Found in Text Mining only
Intestinal Cancer Intestinal Cancer BEFREE 21184732
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer BEFREE 29156771
★☆☆☆☆
Found in Text Mining only