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)