Gene Gene information from NCBI Gene database.
Entrez ID 56616
Gene name Diablo IAP-binding mitochondrial protein
Gene symbol DIABLO
Synonyms (NCBI Gene)
DFNA64SMAC
Chromosome 12
Chromosome location 12q24.31
Summary This gene encodes an inhibitor of apoptosis protein (IAP)-binding protein. The encoded mitochondrial protein enters the cytosol when cells undergo apoptosis, and allows activation of caspases by binding to inhibitor of apoptosis proteins. Overexpression o
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs370571609 A>T Likely-benign, conflicting-interpretations-of-pathogenicity Intron variant
rs387906893 G>A Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
411
miRTarBase ID miRNA Experiments Reference
MIRT005907 hsa-miR-29a-3p qRT-PCR 21169019
MIRT029197 hsa-miR-26b-5p Microarray 19088304
MIRT031535 hsa-miR-16-5p Proteomics 18668040
MIRT047377 hsa-miR-34a-5p CLASH 23622248
MIRT508672 hsa-miR-4506 PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 11140638, 11604410, 11801603, 12559088, 15200957, 15628841, 16282325, 16729033, 19153467, 19667203, 21185211, 21536684, 21695558, 22465666, 23251006, 23479728, 25416956, 26871637, 32296183, 33961781
GO:0005737 Component Cytoplasm IEA
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IBA
GO:0005739 Component Mitochondrion IDA 28288130
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605219 21528 ENSG00000184047
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NR28
Protein name Diablo IAP-binding mitochondrial protein (Diablo homolog, mitochondrial) (Direct IAP-binding protein with low pI) (Second mitochondria-derived activator of caspases) (SMAC) [Cleaved into: Diablo IAP-binding mitochondrial protein, cleaved form]
Protein 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
PDB 1FEW , 1G3F , 1G73 , 1OXQ , 1TW6 , 1XB0 , 1XB1 , 3D9U , 3UIH , 3UIJ , 4TX5 , 6JX6 , 8ATO , 8AUW , 8E2I , 8E2J
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09057 Smac_DIABLO 9 239 Second Mitochondria-derived Activator of Caspases Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed with highest expression in testis. Expression is also high in heart, liver, kidney, spleen, prostate and ovary. Low in brain, lung, thymus and peripheral blood leukocytes. Isoform 3 is ubiquitously expressed. {EC
Sequence
Sequence length 239
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Apoptosis
Apoptosis - multiple species
  Release of apoptotic factors from the mitochondria
SMAC (DIABLO) binds to IAPs
SMAC(DIABLO)-mediated dissociation of IAP:caspase complexes
SMAC, XIAP-regulated apoptotic response
Regulation of the apoptosome activity
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
17
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Autosomal dominant nonsyndromic hearing loss 64 Likely pathogenic rs2547123498, rs1954260410 RCV004585113
RCV004585114
★★★★☆
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
AUTOSOMAL DOMINANT ISOLATED SENSORINEURAL DEAFNESS TYPE DFNA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autosomal dominant nonsyndromic hearing loss Uncertain significance ClinVar
CTD
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
BRAIN ISCHEMIA CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL DOMINANT 64 CTD, Disgenet, HPO
CTD, Disgenet, HPO
CTD, Disgenet, HPO
★★☆☆☆
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 17471152
★☆☆☆☆
Found in Text Mining only
Adrenocortical carcinoma Adrenocortical carcinoma BEFREE 28030838
★☆☆☆☆
Found in Text Mining only
Agenesis of corpus callosum Agenesis Of Corpus Callosum BEFREE 28030838
★☆☆☆☆
Found in Text Mining only
Akinetic-Rigid Variant of Huntington Disease Akinetic-Rigid Variant Of Huntington Disease CTD_human_DG 12930891
★☆☆☆☆
Found in Text Mining only
Aplasia Cutis Congenita Aplasia Cutis Congenita BEFREE 28030838
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorders Autism Spectrum Disorder BEFREE 28694700
★☆☆☆☆
Found in Text Mining only
Autosomal dominant non-syndromic sensorineural deafness type DFNA Non-Syndromic Sensorineural Deafness Orphanet
★☆☆☆☆
Found in Text Mining only
B-Cell Lymphomas B-Cell Lymphoma BEFREE 29715109
★☆☆☆☆
Found in Text Mining only
Barrett Esophagus Barrett esophagus Pubtator 27431913 Associate
★☆☆☆☆
Found in Text Mining only
Brain Ischemia Cerebral Ischemia CTD_human_DG 11756504
★★☆☆☆
Found in Text Mining + Unknown/Other Associations