BOK

BCL2 family apoptosis regulator BOK, the group of BCL2 family

Basic information

Region (hg38): 2:241551424-241574131

Links

ENSG00000176720 ∙ NCBI:666 ∙ OMIM:605404 ∙ HGNC:1087 ∙ Uniprot:Q9UMX3 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the BOK gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BOK gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			19			19
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	19	0	0

Variants in BOK

This is a list of pathogenic ClinVar variants found in the BOK region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
2-241559526-A-G		not specified	Uncertain significance (Feb 21, 2024)
2-241559595-T-A		not specified	Uncertain significance (Jun 21, 2023)
2-241559641-C-T		not specified	Uncertain significance (Jul 12, 2022)
2-241559652-G-A		not specified	Uncertain significance (Jan 16, 2024)
2-241559656-C-G		not specified	Uncertain significance (Mar 25, 2024)
2-241559659-T-G		not specified	Uncertain significance (May 18, 2022)
2-241559673-G-T		not specified	Uncertain significance (Apr 08, 2024)
2-241559689-T-G		not specified	Uncertain significance (Sep 16, 2021)
2-241559697-C-T		not specified	Uncertain significance (Aug 02, 2021)
2-241562362-A-G		not specified	Uncertain significance (Jan 06, 2023)
2-241562381-A-G		not specified	Uncertain significance (Mar 06, 2023)
2-241562408-T-C		not specified	Uncertain significance (May 30, 2024)
2-241562420-C-A		not specified	Uncertain significance (Mar 01, 2023)
2-241570146-T-C		not specified	Uncertain significance (Nov 08, 2022)
2-241570148-T-A		not specified	Uncertain significance (Feb 06, 2024)
2-241570160-G-A		not specified	Uncertain significance (Dec 05, 2022)
2-241570178-G-A		not specified	Uncertain significance (Jun 16, 2024)
2-241570178-G-T		not specified	Uncertain significance (Nov 12, 2021)
2-241570217-G-A		not specified	Uncertain significance (Mar 15, 2024)
2-241570221-T-C		not specified	Uncertain significance (Apr 17, 2024)
2-241570243-C-G		not specified	Uncertain significance (Feb 16, 2023)
2-241572319-T-A		not specified	Uncertain significance (Dec 27, 2023)
2-241572319-T-C		not specified	Uncertain significance (Apr 26, 2023)
2-241572340-G-A		not specified	Uncertain significance (Jan 07, 2022)
2-241572354-G-A		not specified	Uncertain significance (Mar 15, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
BOK	protein_coding	protein_coding	ENST00000318407	4	15411

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.163	0.779	124796	0	2	124798	0.00000801

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.136	113	117	0.965	0.00000759	1296
Missense in Polyphen		47	44.402	1.0585		463
Synonymous	-0.658	62	55.8	1.11	0.00000391	475
Loss of Function	1.56	2	6.18	0.324	2.64e-7	80

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000551	0.0000545
Finnish	0.00	0.00
European (Non-Finnish)	0.00000907	0.00000890
Middle Eastern	0.0000551	0.0000545
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: 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 apoptotic 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). {ECO:0000250|UniProtKB:O35425, ECO:0000269|PubMed:15102863, ECO:0000269|PubMed:19942931, ECO:0000269|PubMed:20673843, ECO:0000269|PubMed:24113155, ECO:0000269|PubMed:27076518}.
• Pathway: Apoptosis - multiple species - Homo sapiens (human);TP53 Network;Apoptosis Modulation and Signaling;Apoptosis;Apoptotic Signaling Pathway;Regulation of Apoptosis by Parathyroid Hormone-related Protein (Consensus)

Recessive Scores

• pRec: 0.281

Haploinsufficiency Scores

• pHI: 0.185
• hipred: Y
• hipred_score: 0.721
• ghis: 0.447

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.673

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Bok
• Phenotype: immune system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); hematopoietic system phenotype; neoplasm; endocrine/exocrine gland phenotype

Gene ontology

• Biological process: release of cytochrome c from mitochondria;apoptotic process;activation of cysteine-type endopeptidase activity involved in apoptotic process;cellular component disassembly involved in execution phase of apoptosis;brain development;cell population proliferation;male gonad development;intrinsic apoptotic signaling pathway in response to DNA damage;activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c;regulation of autophagy;positive regulation of apoptotic process;negative regulation of neuron apoptotic process;oligodendrocyte differentiation;protein complex oligomerization;neuron apoptotic process;regulation of cytosolic calcium ion concentration;negative regulation of mitochondrial depolarization;negative regulation of necroptotic process;intrinsic apoptotic signaling pathway by p53 class mediator;extrinsic apoptotic signaling pathway in absence of ligand;positive regulation of execution phase of apoptosis;negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway;positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway;regulation of chorionic trophoblast cell proliferation;positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway;positive regulation of PERK-mediated unfolded protein response;regulation of granulosa cell apoptotic process;positive regulation of intrinsic apoptotic signaling pathway
• Cellular component: nucleus;nuclear outer membrane;cytoplasm;mitochondrion;mitochondrial outer membrane;mitochondrial inner membrane;endoplasmic reticulum;endoplasmic reticulum membrane;Golgi apparatus;integral component of membrane;early endosome membrane;mitochondrial membrane;trans-Golgi network membrane;cis-Golgi network membrane;recycling endosome membrane
• Molecular function: signaling receptor binding;protein binding;ubiquitin protein ligase binding;protein homodimerization activity;protein heterodimerization activity;BH domain binding