• Gene id: 637

Gene Summary

• Gene Symbol: BID   Gene   UCSC   Ensembl
• Aliases: FP497
• Gene name: BH3 interacting domain death agonist
• Alternate names: BH3-interacting domain death agonist, BH3 interacting domain death agonist Si6 isoform, BID isoform ES(1b), BID isoform L(2), BID isoform Si6, Human BID coding sequence, apoptic death agonist, desmocollin type 4, p22 BID,
• Gene location: 22q11.21 (17774664: 17734137)     Exons: 8     NC_000022.11
• Gene summary(Entrez): 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
• OMIM: 601997

SNPs

rs587777160

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.440344C>T
NC_000020.10   g.420988C>T
NG_034082.1   g.27210G>A
NM_144628.3   c.672G>A
NM_144628.4   c.672G>A
NM_144628.2   c.672G>A
NR_111901.1   n.820G>A
XM_006723540.3   c.486G>A
XM_005260661.1   c.672G>A
XM_017027645.1   c.486G>A
NP_653229.1   p.Trp224T

rs587777159

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000020.11   g.442029_442030del
NC_000020.10   g.422673_422674del
NG_034082.1   g.25525_25526del
NM_144628.3   c.352_353del
NM_144628.4   c.352_353del
NM_144628.2   c.352_353del
NR_111901.1   n.500_501del
XM_006723540.3   c.166_167del
XM_005260661.1   c.352_353del
X  

rs587777158

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.445095G>A
NC_000020.10   g.425739G>A
NG_034082.1   g.22459C>T
NM_144628.3   c.292C>T
NM_144628.4   c.292C>T
NM_144628.2   c.292C>T
NR_111901.1   n.440C>T
XM_006723540.3   c.106C>T
XM_005260661.1   c.292C>T
XM_017027645.1   c.106C>T
NP_653229.1   p.Gln98Te

rs587777157

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.447946G>A
NC_000020.10   g.428590G>A
NG_034082.1   g.19608C>T
NM_144628.3   c.199C>T
NM_144628.4   c.199C>T
NM_144628.2   c.199C>T
NR_111901.1   n.347C>T
XM_005260661.1   c.199C>T
NP_653229.1   p.Arg67Ter
XP_005260718.1   p.Arg67Ter|SEQ=[G/A]|GENE=TBC1D

Protein Summary

• Protein general information: P55957  
  • Name: BH3 interacting domain death agonist (p22 BID) (BID) [Cleaved into: BH3 interacting domain death agonist p15 (p15 BID); BH3 interacting domain death agonist p13 (p13 BID); BH3 interacting domain death agonist p11 (p11 BID)]
  • Length: 195  
  • Mass: 21995
  • Tissue specificity: Isoform 2 and isoform 3 are expressed in spleen, bone marrow, cerebral and cerebellar cortex. Isoform 2 is expressed in spleen, pancreas and placenta (at protein level). Isoform 3 is expressed in lung, pancreas and spleen (at protein l
• Sequence:

  MDCEVNNGSSLRDECITNLLVFGFLQSCSDNSFRRELDALGHELPVLAPQWEGYDELQTDGNRSSHSRLGRIEAD
  SESQEDIIRNIARHLAQVGDSMDRSIPPGLVNGLALQLRNTSRSEEDRNRDLATALEQLLQAYPRDMEKEKTMLV
  LALLLAKKVASHTPSLLRDVFHTTVNFINQNLRTYVRSLARNGMD

• Structural information:
  • Interpro: IPR020728  IPR010479  IPR036834  
  • Prosite: PS01259
  • PDB: 1ZY3 2BID 2KBW 2M5B 2M5I 4BD2 4QVE 4ZEQ 4ZIG 4ZII 5AJJ 5C3F
  • PDBsum: 1ZY3 2BID 2KBW 2M5B 2M5I 4BD2 4QVE 4ZEQ 4ZIG 4ZII 5AJJ 5C3F
  • DIP: 34937
  • STRING: ENSP00000318822
• Other Databases: GeneCards:  BID  Malacards:  BID

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0051402	neuron apoptotic process	TAS	biological process
GO:0001836	release of cytochrome c from mitochondria	IDA	biological process
GO:0005739	mitochondrion	IBA	cellular component
GO:0090200	positive regulation of release of cytochrome c from mitochondria	IBA	biological process
GO:0005829	cytosol	IBA	cellular component
GO:0006919	activation of cysteine-type endopeptidase activity involved in apoptotic process	IBA	biological process
GO:0008637	apoptotic mitochondrial changes	IBA	biological process
GO:2001238	positive regulation of extrinsic apoptotic signaling pathway	IBA	biological process
GO:2001244	positive regulation of intrinsic apoptotic signaling pathway	IBA	biological process
GO:0005741	mitochondrial outer membrane	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0042981	regulation of apoptotic process	IEA	biological process
GO:0043065	positive regulation of apoptotic process	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006915	apoptotic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005741	mitochondrial outer membrane	IEA	cellular component
GO:0005123	death receptor binding	TAS	molecular function
GO:0005739	mitochondrion	TAS	cellular component
GO:0016020	membrane	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0008625	extrinsic apoptotic signaling pathway via death domain receptors	TAS	biological process
GO:0008637	apoptotic mitochondrial changes	TAS	biological process
GO:0005741	mitochondrial outer membrane	TAS	cellular component
GO:0005741	mitochondrial outer membrane	TAS	cellular component
GO:0005741	mitochondrial outer membrane	TAS	cellular component
GO:0005741	mitochondrial outer membrane	TAS	cellular component
GO:0005741	mitochondrial outer membrane	TAS	cellular component
GO:0005741	mitochondrial outer membrane	TAS	cellular component
GO:0042981	regulation of apoptotic process	TAS	biological process
GO:1900740	positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway	TAS	biological process
GO:1900740	positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0043066	negative regulation of apoptotic process	TAS	biological process
GO:1901030	positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway	TAS	biological process
GO:1901030	positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway	TAS	biological process
GO:2001244	positive regulation of intrinsic apoptotic signaling pathway	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:2000045	regulation of G1/S transition of mitotic cell cycle	IEA	biological process
GO:1902108	regulation of mitochondrial membrane permeability involved in apoptotic process	IEA	biological process
GO:0097284	hepatocyte apoptotic process	IEA	biological process
GO:0042127	regulation of cell population proliferation	IEA	biological process
GO:0031625	ubiquitin protein ligase binding	IEA	molecular function
GO:0031334	positive regulation of protein-containing complex assembly	IEA	biological process
GO:0006919	activation of cysteine-type endopeptidase activity involved in apoptotic process	IEA	biological process
GO:0006626	protein targeting to mitochondrion	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:2001235	positive regulation of apoptotic signaling pathway	IEA	biological process
GO:2000271	positive regulation of fibroblast apoptotic process	IEA	biological process
GO:1902230	negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage	IEA	biological process
GO:0097345	mitochondrial outer membrane permeabilization	IEA	biological process
GO:0097191	extrinsic apoptotic signaling pathway	IEA	biological process
GO:0090200	positive regulation of release of cytochrome c from mitochondria	IEA	biological process
GO:0065003	protein-containing complex assembly	IEA	biological process
GO:0043065	positive regulation of apoptotic process	IEA	biological process
GO:0042981	regulation of apoptotic process	IEA	biological process
GO:0042775	mitochondrial ATP synthesis coupled electron transport	IEA	biological process
GO:0032592	integral component of mitochondrial membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0010918	positive regulation of mitochondrial membrane potential	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0001836	release of cytochrome c from mitochondria	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0031334	positive regulation of protein-containing complex assembly	IDA	biological process
GO:0090150	establishment of protein localization to membrane	IDA	biological process
GO:0090200	positive regulation of release of cytochrome c from mitochondria	IGI	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005741	mitochondrial outer membrane	IEA	cellular component
GO:0031966	mitochondrial membrane	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0031334	positive regulation of protein-containing complex assembly	IDA	biological process
GO:0090200	positive regulation of release of cytochrome c from mitochondria	IMP	biological process
GO:0043065	positive regulation of apoptotic process	IMP	biological process
GO:0090200	positive regulation of release of cytochrome c from mitochondria	IMP	biological process
GO:0043065	positive regulation of apoptotic process	IMP	biological process
GO:0042770	signal transduction in response to DNA damage	TAS	biological process
GO:2001244	positive regulation of intrinsic apoptotic signaling pathway	IMP	biological process
GO:2001238	positive regulation of extrinsic apoptotic signaling pathway	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa05168	Herpes simplex virus 1 infection
hsa05010	Alzheimer disease
hsa05163	Human cytomegalovirus infection
hsa05170	Human immunodeficiency virus 1 infection
hsa05169	Epstein-Barr virus infection
hsa05167	Kaposi sarcoma-associated herpesvirus infection
hsa05152	Tuberculosis
hsa04217	Necroptosis
hsa04932	Non-alcoholic fatty liver disease
hsa05164	Influenza A
hsa05161	Hepatitis B
hsa05160	Hepatitis C
hsa04210	Apoptosis
hsa04071	Sphingolipid signaling pathway
hsa05162	Measles
hsa04650	Natural killer cell mediated cytotoxicity
hsa04115	p53 signaling pathway
hsa05014	Amyotrophic lateral sclerosis
hsa01524	Platinum drug resistance
hsa05416	Viral myocarditis
hsa04215	Apoptosis - multiple species

Diseases

Associated diseases	References
pancreatic cancer	PMID:15943879
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq