Gene Gene information from NCBI Gene database.
Entrez ID 79444
Gene name Baculoviral IAP repeat containing 7
Gene symbol BIRC7
Synonyms (NCBI Gene)
KIAPLIVINML-IAPMLIAPRNF50
Chromosome 20
Chromosome location 20q13.33
Summary This gene encodes a member of the inhibitor of apoptosis protein (IAP) family, and contains a single copy of a baculovirus IAP repeat (BIR) as well as a RING-type zinc finger domain. The BIR domain is essential for inhibitory activity and interacts with c
miRNA miRNA information provided by mirtarbase database.
17
miRTarBase ID miRNA Experiments Reference
MIRT438448 hsa-miR-198 Luciferase reporter assayqRT-PCRWestern blot 23069480
MIRT438448 hsa-miR-198 Luciferase reporter assayqRT-PCRWestern blot 23069480
MIRT821691 hsa-miR-1207-5p CLIP-seq
MIRT821692 hsa-miR-3184 CLIP-seq
MIRT821693 hsa-miR-423-5p CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
MITF Unknown 18451137
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
41
GO ID Ontology Definition Evidence Reference
GO:0002088 Process Lens development in camera-type eye IEA
GO:0004842 Function Ubiquitin-protein transferase activity IDA 16729033
GO:0004842 Function Ubiquitin-protein transferase activity IEA
GO:0004869 Function Cysteine-type endopeptidase inhibitor activity IEA
GO:0004869 Function Cysteine-type endopeptidase inhibitor activity TAS 21617971
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605737 13702 ENSG00000101197
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96CA5
Protein name Baculoviral IAP repeat-containing protein 7 (EC 2.3.2.27) (Kidney inhibitor of apoptosis protein) (KIAP) (Livin) (Melanoma inhibitor of apoptosis protein) (ML-IAP) (RING finger protein 50) (RING-type E3 ubiquitin transferase BIRC7) [Cleaved into: Baculovi
Protein function Apoptotic regulator capable of exerting proapoptotic and anti-apoptotic activities and plays crucial roles in apoptosis, cell proliferation, and cell cycle control (PubMed:11024045, PubMed:11084335, PubMed:11162435, PubMed:16729033, PubMed:17294
PDB 1OXN , 1OXQ , 1OY7 , 1TW6 , 2I3H , 2I3I , 3F7G , 3F7H , 3F7I , 3GT9 , 3GTA , 3UW5 , 4AUQ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00653 BIR 90 155 Inhibitor of Apoptosis domain Domain
PF13920 zf-C3HC4_3 248 292 Domain
Tissue specificity TISSUE SPECIFICITY: Isoform 1 and isoform 2 are expressed at very low levels or not detectable in most adult tissues. Detected in adult heart, placenta, lung, lymph node, spleen and ovary, and in several carcinoma cell lines. Isoform 2 is detected in feta
Sequence
MGPKDSAKCLHRGPQPSHWAAGDGPTQERCGPRSLGSPVLGLDTCRAWDHVDGQILGQLR
PLTEEEEEEGAGATLSRGPAFPGMGSEELRLASFYDWPLTAEVPPELLAAAGFFHTGHQD
KVRCFFCYGGLQSWKRGDDPWTEHAKWFPSCQFLL
RSKGRDFVHSVQETHSQLLGSWDPW
EEPEDAAPVAPSVPASGYPELPTPRREVQSESAQEPGGVSPAEAQRAWWVLEPPGARDVE
AQLRRLQEERTCKVCLDRAVSIVFVPCGHLVCAECAPGLQLCPICRAPVRSRVRTFLS
Sequence length 298
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Ubiquitin mediated proteolysis
Apoptosis - multiple species
Toxoplasmosis
Pathways in cancer
Small cell lung cancer
 
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CARCINOMA, RENAL CELL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 25339450
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 25339450
★☆☆☆☆
Found in Text Mining only
Adrenocortical Carcinoma Adrenocortical carcinoma Pubtator 28030838 Associate
★☆☆☆☆
Found in Text Mining only
Agenesis of corpus callosum Agenesis Of Corpus Callosum BEFREE 28030838
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 27802195
★☆☆☆☆
Found in Text Mining only
Anophthalmia with pulmonary hypoplasia Anophthalmia Pubtator 27802195 Associate
★☆☆☆☆
Found in Text Mining only
Aplasia Cutis Congenita Aplasia Cutis Congenita BEFREE 28030838
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma BEFREE 16957584
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 12488298, 20460713
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm LHGDN 18278467
★☆☆☆☆
Found in Text Mining only