DIABLO |
Gene Facts External Data Attribution
- HGNC Symbol
- DIABLO (HGNC:21528) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- diablo IAP-binding mitochondrial protein
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- SMAC, DIABLO-S, FLJ25049, FLJ10537, DFNA64
- %HI
- 16.32(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.31(Read more about gnomAD LOEUF score)
- Cytoband
- 12q24.31
- Genomic Coordinates
-
GRCh37/hg19: chr12:122692209-122712003 NCBI Ensembl UCSC GRCh38/hg38: chr12:122207662-122227456 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001371333.1 ENST00000464942.7 (Read more about MANE Select)
- Function
- Promotes apoptosis by activating caspases in the cytochrome c/Apaf-1/caspase-9 pathway. Acts by opposing the inhibitory activity of inhibitor of apoptosis proteins (IAP). Inhibits the activity of BIRC6/bruce by inhibiting its binding to caspases. {ECO:0000269|PubMed:10929711, ECO:0000269|PubMed:15200957}. [Isoform 3]: Attenuates the stability and apoptosis- inhibiting activity of XIAP/BIRC4 by promoting XIAP/BIRC4 ubiquitination and degradation through the ubiquitin-proteasome pathway. Also disr... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-7299
Curation Status:
Under Primary Review
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Under Primary Review
Triplosensitivity:
Under Primary Review
Last Evaluated:
Under Primary Review
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000012.11)
(NC_000012.12)