BID
protein-codingBH3 interacting domain death agonist, the group of BCL2 homology region 3 (BH3) only|MicroRNA protein coding host genes|Receptor ligands
Gene summary
This gene encodes a death agonist that heterodimerizes with either agonist BAX or antagonist BCL2, and thus regulate apoptosis. The encoded protein is a member of the BCL-2 family of cell death regulators. It is a mediator of mitochondrial damage induced by caspase-8 (CASP8); CASP8 cleaves this encoded protein, and the COOH-terminal part translocates to mitochondria where it triggers cytochrome c release. Multiple alternatively spliced transcript variants have been found. [provided by RefSeq, Aug 2020]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~40.6 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to BID variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_001196.4. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 35 | 4 | 39 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 1 | 1 | ||||
| Total | 0 | 0 | 36 | 4 | 0 | 40 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001187.1 | 5 | MANE Select | |
| Ensembl | ENSP00000480414.1 | 5 | MANE Select | |
| RefSeq | NP_001231496.1 | 5 | Standard | |
| RefSeq | NP_001231498.1 | 3 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Kaposi,s sarcoma-associated herpesvirus infection - Homo sapiens (human)
- Non-alcoholic fatty liver disease (NAFLD) - Homo sapiens (human)
- Viral myocarditis - Homo sapiens (human)
- p53 signaling pathway - Homo sapiens (human)
- Apoptosis - multiple species - Homo sapiens (human)
Biological Process
- release of cytochrome c from mitochondria
- protein targeting to mitochondrion
- activation of cysteine-type endopeptidase activity involved in apoptotic process
- extrinsic apoptotic signaling pathway via death domain receptors
- apoptotic mitochondrial changes
Molecular Function
- death receptor binding
- protein binding
- ubiquitin protein ligase binding
- protein heterodimerization activity
Cellular Component
- mitochondrion
- mitochondrial outer membrane
- cytosol
- membrane
- integral component of mitochondrial membrane
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000317361
- Coding exons
- 6
- Length
- 40631
- Individuals with no LoFs
- 125612
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 136
- Defined
- 125748
- p
- 0.000541
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.102 | 153 | 157 | 0.977 | 0.00000979 | 1578 |
| Missense (PolyPhen) | 40 | 39.931 | 1.0017 | 486 | ||
| Synonymous | 0.356 | 58 | 61.5 | 0.942 | 0.00000384 | 483 |
| Loss of Function | -1.31 | 14 | 9.61 | 1.46 | 4.09e-7 | 111 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.0023 | 0.0022 | notable |
| Latino/Admixed American | 0.00012 | 0.00012 | rare |
| Ashkenazi Jewish | 0.00030 | 0.00030 | rare |
| East Asian | 0.0013 | 0.0012 | notable |
| Finnish | 0.00085 | 0.00083 | rare |
| European (Non-Finnish) | 0.00038 | 0.00037 | rare |
| South Asian | 0.00023 | 0.00023 | rare |
| Other | 0.00083 | 0.00081 | rare |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: The major proteolytic product p15 BID allows the release of cytochrome c (By similarity). Isoform 1, isoform 2 and isoform 4 induce ICE-like proteases and apoptosis. Isoform 3 does not induce apoptosis. Counters the protective effect of Bcl-2. {ECO:0000250|UniProtKB:P70444, ECO:0000269|PubMed:14583606}.;
Recessive Scores
- pRec
- 0.116
Intolerance Scores
- LoFtool
- 0.957
- RVIS EVS
- -0.14
- RVIS percentile EVS
- 43.57
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- E
- Indispensability score
- 0.769
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |