Menu
GeneBe

BID

BH3 interacting domain death agonist, the group of BCL2 homology region 3 (BH3) only|MicroRNA protein coding host genes|Receptor ligands

Basic information

Region (hg38): 22:17734137-17774770

Links

ENSG00000015475NCBI:637OMIM:601997HGNC:1050Uniprot:P55957AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

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

  • Inborn genetic diseases (14 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BID 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
12
clinvar
1
clinvar
13
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 12 1 0

Variants in BID

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

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

Position Type Phenotype Significance ClinVar
22-17738046-G-A Inborn genetic diseases Uncertain significance (Sep 01, 2021)2248391
22-17738093-A-G Inborn genetic diseases Uncertain significance (Jun 03, 2022)2385140
22-17738105-G-A Inborn genetic diseases Uncertain significance (Sep 14, 2022)2385882
22-17738208-T-C Inborn genetic diseases Likely benign (Feb 27, 2023)2489568
22-17739395-A-C Inborn genetic diseases Uncertain significance (Feb 22, 2023)2486823
22-17739404-G-A Inborn genetic diseases Uncertain significance (Jun 16, 2023)2591609
22-17739407-G-A Inborn genetic diseases Uncertain significance (Aug 13, 2021)2244851
22-17739449-C-T Inborn genetic diseases Uncertain significance (Apr 26, 2023)2521429
22-17739462-G-A Inborn genetic diseases Uncertain significance (May 16, 2022)2214941
22-17743848-C-T Inborn genetic diseases Uncertain significance (May 13, 2022)2289577
22-17743926-G-A Inborn genetic diseases Uncertain significance (Sep 01, 2021)2394869
22-17750139-C-T Inborn genetic diseases Uncertain significance (Aug 17, 2021)2358567
22-17750149-C-T Inborn genetic diseases Uncertain significance (Feb 02, 2022)2274938
22-17773658-C-A Inborn genetic diseases Uncertain significance (May 30, 2023)2552476

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
BIDprotein_codingprotein_codingENST00000317361 640631
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
1.56e-110.0081812561201361257480.000541
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.1021531570.9770.000009791578
Missense in Polyphen4039.9311.0017486
Synonymous0.3565861.50.9420.00000384483
Loss of Function-1.31149.611.464.09e-7111

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.002370.00227
Ashkenazi Jewish0.0003020.000298
East Asian0.001270.00120
Finnish0.0008530.000832
European (Non-Finnish)0.0003790.000369
Middle Eastern0.001270.00120
South Asian0.0002290.000229
Other0.0008340.000815

dbNSFP

Source: dbNSFP

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}.;
Pathway
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);Alzheimer,s disease - Homo sapiens (human);Amyotrophic lateral sclerosis (ALS) - Homo sapiens (human);Necroptosis - Homo sapiens (human);Tuberculosis - Homo sapiens (human);Natural killer cell mediated cytotoxicity - Homo sapiens (human);Sphingolipid signaling pathway - Homo sapiens (human);Pathways in cancer - Homo sapiens (human);Apoptosis - Homo sapiens (human);miRNA Regulation of DNA Damage Response;TP53 Network;Apoptosis Modulation and Signaling;Alzheimers Disease;TNF alpha Signaling Pathway;Amyotrophic lateral sclerosis (ALS);Nanomaterial induced apoptosis;Apoptosis;Photodynamic therapy-induced AP-1 survival signaling.;Photodynamic therapy-induced HIF-1 survival signaling;Apoptotic Signaling Pathway;TP53 Regulates Transcription of Cell Death Genes;Apoptosis Modulation by HSP70;Regulation of Apoptosis by Parathyroid Hormone-related Protein;miRNA regulation of p53 pathway in prostate cancer;apoptotic signaling in response to dna damage;DNA Damage Response;Gene expression (Transcription);role of mitochondria in apoptotic signaling;induction of apoptosis through dr3 and dr4/5 death receptors;hiv-1 nef: negative effector of fas and tnf;Generic Transcription Pathway;Fas;TP53 Regulates Transcription of Cell Death Genes;RNA Polymerase II Transcription;Activation of BAD and translocation to mitochondria ;Activation of BH3-only proteins;Activation, translocation and oligomerization of BAX;Activation and oligomerization of BAK protein;Intrinsic Pathway for Apoptosis;Apoptosis;Programmed Cell Death;TP53 Regulates Transcription of Genes Involved in Cytochrome C Release;Activation, myristolyation of BID and translocation to mitochondria;Transcriptional Regulation by TP53;Direct p53 effectors;BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members;TNFalpha;TNF;Caspase Cascade in Apoptosis;HIV-1 Nef: Negative effector of Fas and TNF-alpha;FAS (CD95) signaling pathway;ATM pathway;Ceramide signaling pathway (Consensus)

Recessive Scores

pRec
0.116

Intolerance Scores

loftool
0.957
rvis_EVS
-0.14
rvis_percentile_EVS
43.57

Haploinsufficiency Scores

pHI
0.0603
hipred
N
hipred_score
0.398
ghis
0.528

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.769

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Bid
Phenotype
cellular phenotype; homeostasis/metabolism phenotype; muscle phenotype; endocrine/exocrine gland phenotype; immune system phenotype; vision/eye phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); hematopoietic system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); respiratory system phenotype; liver/biliary system phenotype;

Gene ontology

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;positive regulation of mitochondrial membrane potential;positive regulation of protein oligomerization;positive regulation of protein homooligomerization;regulation of cell population proliferation;signal transduction in response to DNA damage;mitochondrial ATP synthesis coupled electron transport;regulation of apoptotic process;positive regulation of apoptotic process;negative regulation of apoptotic process;protein homooligomerization;neuron apoptotic process;establishment of protein localization to membrane;positive regulation of release of cytochrome c from mitochondria;hepatocyte apoptotic process;mitochondrial outer membrane permeabilization;positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway;positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway;negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage;regulation of G1/S transition of mitotic cell cycle;positive regulation of fibroblast apoptotic process;positive regulation of extrinsic apoptotic signaling pathway;positive regulation of intrinsic apoptotic signaling pathway
Cellular component
mitochondrion;mitochondrial outer membrane;cytosol;membrane;integral component of mitochondrial membrane
Molecular function
death receptor binding;protein binding;ubiquitin protein ligase binding;protein heterodimerization activity