• Gene id: 329

Gene Summary

• Gene Symbol: BIRC2   Gene   UCSC   Ensembl
• Aliases: API1, HIAP2, Hiap-2, MIHB, RNF48, c-IAP1, cIAP1
• Gene name: baculoviral IAP repeat containing 2
• Alternate names: baculoviral IAP repeat-containing protein 2, IAP homolog B, IAP-2, NFR2-TRAF signalling complex protein, RING finger protein 48, RING-type E3 ubiquitin transferase BIRC2, TNFR2-TRAF-signaling complex protein 2, apoptosis inhibitor 1, cellular inhibitor of apoptos,
• Gene location: 11q22.2 (102347181: 102378669)     Exons: 10     NC_000011.10
• Gene summary(Entrez): The protein encoded by this gene is a member of a family of proteins that inhibits apoptosis by binding to tumor necrosis factor receptor-associated factors TRAF1 and TRAF2, probably by interfering with activation of ICE-like proteases. This encoded prote
• OMIM: 601712

SNPs

rs25640

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

NC_000005.10   g.119475838G>A
NC_000005.10   g.119475838G>C
NC_000005.9   g.118811533G>A
NC_000005.9   g.118811533G>C
NG_008182.1   g.28386G>A
NG_008182.1   g.28386G>C
NM_000414.4   c.317G>A
NM_000414.4   c.317G>C
NM_000414.3   c.317G>A
NM_000414.3   c.317G>C
NM_0011992  

rs11205

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

NC_000005.10   g.119526018A>G
NC_000005.9   g.118861713A>G
NG_008182.1   g.78566A>G
NM_000414.4   c.1675A>G
NM_000414.3   c.1675A>G
NM_001199291.3   c.1750A>G
NM_001199291.2   c.1750A>G
NM_001199291.1   c.1750A>G
NM_001292028.2   c.1255A>G
NM_001292028.1   c.1255A>G
NM_  

rs28943594

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

NC_000005.10   g.119541965A>G
NC_000005.9   g.118877660A>G
NG_008182.1   g.94513A>G
NM_000414.4   c.2182A>G
NM_000414.3   c.2182A>G
NM_001199291.3   c.2257A>G
NM_001199291.2   c.2257A>G
NM_001199291.1   c.2257A>G
NM_001292028.2   c.1762A>G
NM_001292028.1   c.1762A>G
NM_  

rs605059

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

NC_000017.11   g.42554888G>A
NC_000017.11   g.42554888G>C
NC_000017.11   g.42554888G>T
NC_000017.10   g.40706906G>A
NC_000017.10   g.40706906G>C
NC_000017.10   g.40706906G>T
NM_000413.3   c.937G>A
NM_000413.3   c.937G>C
NM_000413.3   c.937G>T
NM_000413.4   c.937G>A
NM_0  

rs1799964

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

NC_000006.12   g.31574531T>C
NC_000006.11   g.31542308T>C
NG_007462.1   g.3959T>C
NG_012010.1   g.7433T>C
NT_113891.3   g.3051818T>C
NT_113891.2   g.3051924T>C
NT_167246.2   g.2879572T>C
NT_167246.1   g.2885192T>C
NT_167249.2   g.2873811T>C
NT_167249.1   g.2873109T>C
NT  

rs180113

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

NC_000017.11   g.69928988T>C
NC_000017.10   g.67925129T>C|SEQ=[T/C]

Protein Summary

• Protein general information: Q13490  
  • Name: Baculoviral IAP repeat containing protein 2 (EC 2.3.2.27) (Cellular inhibitor of apoptosis 1) (C IAP1) (IAP homolog B) (Inhibitor of apoptosis protein 2) (hIAP 2) (hIAP2) (RING finger protein 48) (RING type E3 ubiquitin transferase BIRC2) (TNFR2 TRAF sign
  • Length: 618  
  • Mass: 69900
  • Tissue specificity: Present in many fetal and adult tissues. Mainly expressed in adult skeletal muscle, thymus, testis, ovary, and pancreas, low or absent in brain and peripheral blood leukocytes.
• Sequence:

  MHKTASQRLFPGPSYQNIKSIMEDSTILSDWTNSNKQKMKYDFSCELYRMSTYSTFPAGVPVSERSLARAGFYYT
  GVNDKVKCFCCGLMLDNWKLGDSPIQKHKQLYPSCSFIQNLVSASLGSTSKNTSPMRNSFAHSLSPTLEHSSLFS
  GSYSSLSPNPLNSRAVEDISSSRTNPYSYAMSTEEARFLTYHMWPLTFLSPSELARAGFYYIGPGDRVACFACGG
  KLSNWEPKDDAMSEHRRHFPNCPFLENSLETLRFSISNLSMQTHAARMRTFMYWPSSVPVQPEQLASAGFYYVGR
  NDDVKCFCCDGGLRCWESGDDPWVEHAKWFPRCEFLIRMKGQEFVDEIQGRYPHLLEQLLSTSDTTGEENADPPI
  IHFGPGESSSEDAVMMNTPVVKSALEMGFNRDLVKQTVQSKILTTGENYKTVNDIVSALLNAEDEKREEEKEKQA
  EEMASDDLSLIRKNRMALFQQLTCVLPILDNLLKANVINKQEHDIIKQKTQIPLQARELIDTILVKGNAAANIFK
  NCLKEIDSTLYKNLFVDKNMKYIPTEDVSGLSLEEQLRRLQEERTCKVCMDKEVSVVFIPCGHLVVCQECAPSLR
  KCPICRGIIKGTVRTFLS

• Structural information:
  • Protein Domains: (453..54-)
    (/note="CARD-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00046"-)
  • Interpro: IPR001370  IPR041933  IPR001315  IPR011029  IPR001841  
  • Prosite: PS01282 PS50143 PS50209 PS50089
  • CDD: cd00022 cd14394
  • PDB: 1QBH 2L9M 3D9T 3D9U 3M1D 3MUP 3OZ1 3T6P 3UW4 4EB9 4HY4 4HY5 4KMN 4LGE 4LGU 4MTI 4MU7 5M6N 6EXW 6HPR
  • PDBsum: 1QBH 2L9M 3D9T 3D9U 3M1D 3MUP 3OZ1 3T6P 3UW4 4EB9 4HY4 4HY5 4KMN 4LGE 4LGU 4MTI 4MU7 5M6N 6EXW 6HPR
  • DIP: 33485
  • STRING: ENSP00000477613
• Other Databases: GeneCards:  BIRC2  Malacards:  BIRC2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043130	ubiquitin binding	IDA	molecular function
GO:0098770	FBXO family protein binding	IPI	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0060546	negative regulation of necroptotic process	IBA	biological process
GO:0061630	ubiquitin protein ligase activity	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0031398	positive regulation of protein ubiquitination	IBA	biological process
GO:0043027	cysteine-type endopeptidase inhibitor activity involved in apoptotic process	IBA	molecular function
GO:0043154	negative regulation of cysteine-type endopeptidase activity involved in apoptotic process	IBA	biological process
GO:1990001	inhibition of cysteine-type endopeptidase activity involved in apoptotic process	IBA	biological process
GO:0051726	regulation of cell cycle	IDA	biological process
GO:0008270	zinc ion binding	IDA	molecular function
GO:0008270	zinc ion binding	IDA	molecular function
GO:0004842	ubiquitin-protein transferase activity	IDA	molecular function
GO:0043161	proteasome-mediated ubiquitin-dependent protein catabolic process	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0000209	protein polyubiquitination	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:2000116	regulation of cysteine-type endopeptidase activity	TAS	biological process
GO:0050727	regulation of inflammatory response	TAS	biological process
GO:0043066	negative regulation of apoptotic process	TAS	biological process
GO:0042127	regulation of cell population proliferation	TAS	biological process
GO:0070424	regulation of nucleotide-binding oligomerization domain containing signaling pathway	TAS	biological process
GO:0047485	protein N-terminus binding	IPI	molecular function
GO:0045595	regulation of cell differentiation	TAS	biological process
GO:0045088	regulation of innate immune response	TAS	biological process
GO:0039535	regulation of RIG-I signaling pathway	TAS	biological process
GO:0038061	NIK/NF-kappaB signaling	TAS	biological process
GO:0034121	regulation of toll-like receptor 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:0003713	transcription coactivator activity	IMP	molecular function
GO:0051087	chaperone 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:0042981	regulation of apoptotic process	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006915	apoptotic process	IEA	biological process
GO:0007166	cell surface receptor signaling pathway	TAS	biological process
GO:0004842	ubiquitin-protein transferase activity	EXP	molecular function
GO:0016740	transferase activity	EXP	molecular function
GO:0007249	I-kappaB kinase/NF-kappaB signaling	TAS	biological process
GO:0010803	regulation of tumor necrosis factor-mediated signaling pathway	TAS	biological process
GO:0016579	protein deubiquitination	TAS	biological process
GO:0035666	TRIF-dependent toll-like receptor signaling pathway	TAS	biological process
GO:0002756	MyD88-independent toll-like receptor signaling pathway	TAS	biological process
GO:0004842	ubiquitin-protein transferase activity	TAS	molecular function
GO:0004842	ubiquitin-protein transferase activity	TAS	molecular function
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: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: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:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0033209	tumor necrosis factor-mediated signaling pathway	TAS	biological process
GO:0033209	tumor necrosis factor-mediated signaling pathway	TAS	biological process
GO:0060544	regulation of necroptotic process	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical 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: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:0045471	response to ethanol	IEA	biological process
GO:0045121	membrane raft	IEA	cellular component
GO:0032991	protein-containing complex	IEA	cellular component
GO:0014070	response to organic cyclic compound	IEA	biological process
GO:0010243	response to organonitrogen compound	IEA	biological process
GO:0001741	XY body	IEA	cellular component
GO:0001666	response to hypoxia	IEA	biological process
GO:1902916	positive regulation of protein polyubiquitination	IEA	biological process
GO:1902443	negative regulation of ripoptosome assembly involved in necroptotic process	IEA	biological process
GO:0071356	cellular response to tumor necrosis factor	IEA	biological process
GO:0070266	necroptotic process	IEA	biological process
GO:0060546	negative regulation of necroptotic process	IEA	biological process
GO:0035631	CD40 receptor complex	IEA	cellular component
GO:0009898	cytoplasmic side of plasma membrane	IEA	cellular component
GO:0001890	placenta development	IEA	biological process
GO:0051591	response to cAMP	IEA	biological process
GO:0044877	protein-containing complex binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:2000377	regulation of reactive oxygen species metabolic process	IEA	biological process
GO:1901222	regulation of NIK/NF-kappaB signaling	IEA	biological process
GO:0009898	cytoplasmic side of plasma membrane	ISS	cellular component
GO:0035631	CD40 receptor complex	ISS	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:1903508	positive regulation of nucleic acid-templated transcription	IEA	biological process
GO:0043066	negative regulation of apoptotic process	IDA	biological process
GO:1902527	positive regulation of protein monoubiquitination	IDA	biological process
GO:1902523	positive regulation of protein K63-linked ubiquitination	IDA	biological process
GO:1902524	positive regulation of protein K48-linked ubiquitination	IDA	biological process
GO:0004842	ubiquitin-protein transferase activity	IDA	molecular function
GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB signaling	IEP	biological process
GO:0060544	regulation of necroptotic process	IMP	biological process
GO:0042981	regulation of apoptotic process	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa05168	Herpes simplex virus 1 infection
hsa05132	Salmonella infection
hsa04510	Focal adhesion
hsa04120	Ubiquitin mediated proteolysis
hsa04621	NOD-like receptor signaling pathway
hsa04390	Hippo signaling pathway
hsa04217	Necroptosis
hsa04210	Apoptosis
hsa04668	TNF signaling pathway
hsa04064	NF-kappa B signaling pathway
hsa05145	Toxoplasmosis
hsa05222	Small cell lung cancer
hsa01524	Platinum drug resistance
hsa04215	Apoptosis - multiple species
P06959	CCKR signaling map

Diseases

Associated diseases	References
Breast cancer	PMID:12218061
Cervical squamous cell carcinoma	PMID:12208731
cervical cancer	PMID:16504151
renal cell carcinoma	PMID:17154176
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881