Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
56616
Gene name Gene Name - the full gene name approved by the HGNC.
Diablo IAP-binding mitochondrial protein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DIABLO
Synonyms (NCBI Gene) Gene synonyms aliases
DFNA64, SMAC
Disease Acronyms (UniProt) Disease acronyms from UniProt database
DFNA64
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q24.31
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 11604410, 11801603, 12559088, 15200957, 15628841, 16282325, 16729033, 19153467, 21185211, 21536684, 22465666, 23251006, 25416956, 26871637, 32296183
GO:0005739 Component Mitochondrion IBA 21873635
GO:0005739 Component Mitochondrion IDA
GO:0005758 Component Mitochondrial intermembrane space TAS 18309324
GO:0005829 Component Cytosol TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
605219 21528 ENSG00000184047
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Deafness DEAFNESS, AUTOSOMAL DOMINANT 64 rs267607135, rs387906219, rs387906220, rs387906221, rs387906222, rs606231120, rs267606855, rs121918370, rs137853185, rs137853186, rs137853187, rs137853188, rs587776522, rs587776523, rs200781822
View all (1019 more)
21722859, 26969326, 23510774
Hearing loss Sensorineural Hearing Loss (disorder) rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359
View all (184 more)
Nonsyndromic deafness Nonsyndromic Deafness rs606231410, rs794729665, rs730880338, rs1566538321 21722859, 10929711
Prostate cancer Malignant neoplasm of prostate rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582 17718901
Unknown
Disease term Disease name Evidence References Source
Huntington disease Huntington Disease, Huntington Disease, Late Onset, Juvenile Huntington Disease 12930891 ClinVar
Hypertension Hypertension GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma Associate 17067390, 22867709
Ascites Associate 28852723
Barrett Esophagus Associate 27431913
Breast Neoplasms Associate 18590557, 21645409, 25006666, 26662313, 28460471, 29895124, 33239070, 33492282, 33770100, 35007560
Burkitt Lymphoma Associate 33971465
Carcinogenesis Associate 15560849, 31356194
Carcinoma Ductal Associate 21645409
Carcinoma Hepatocellular Associate 17997990
Carcinoma Non Small Cell Lung Associate 24681884
Carcinoma Ovarian Epithelial Associate 28852723