DIABLO

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 of the encoded protein sensitizes tumor cells to apoptosis. A mutation in this gene is associated with young-adult onset of nonsyndromic deafness-64. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013].

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Name
OMIM ID
Ensembl ID
HGNC ID
PHARMGKB ID
Map Location
Namediablo IAP-binding mitochondrial protein
OMIM IDMIM:605219
Ensembl IDEnsembl:ENSG00000284934
HGNC IDHGNC:HGNC:21528
PHARMGKB IDPA134945044
Map Location12q24.31

Gene Categories:

PROTEASE

GO terms in DIABLO


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Term Type
Evidence Type
GO Term ID
GO Des.
MF IPI GO:0005515 protein binding
BP TAS GO:0006915 apoptotic process
BP TAS GO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process
BP TAS GO:0008625 extrinsic apoptotic signaling pathway via death domain receptors
BP IBA GO:0008631 intrinsic apoptotic signaling pathway in response to oxidative stress
BP IBA GO:0008635 activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c
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Gene expression in normal tissue: DIABLO

Gene-model tissue-cancer distribution: Bubble Plot

undefinetissue: undefine cancer: undefined model num: 0undefinedtissue: undefined cancer: PANCAN model num: 12BREAStissue: BREAS cancer: BREAST model num: 0BREASTtissue: BREAST cancer: undefined model num: 1LIVEtissue: LIVE cancer: LIVER model num: 0LIVERtissue: LIVER cancer: undefined model num: 2

Gene-drug pathway distribution

Pathways in DIABLO


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Database
Pathway ID
Pathway Des.
reactome R-HSA-109581 Apoptosis
reactome R-HSA-109581 Apoptosis
reactome R-HSA-109606 Intrinsic Pathway for Apoptosis
reactome R-HSA-109606 Intrinsic Pathway for Apoptosis
reactome R-HSA-111457 Release of apoptotic factors from the mitochondria
reactome R-HSA-111463 SMAC binds to IAPs
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Gene-Drug: Aster Plot


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Drug ID
Drug Name
Model Num.
iGMDRD579 PF750 1
iGMDRD479 Veliparib 1
iGMDRD344 AZD7545 1
iGMDRD889 Compound 7d-cis 3
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Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in DIABLO

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Model
Level
Reference ID
Tissue
Cancer
Drug
Clinical Response
Source
No matching records found

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