InnateDB Protein
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IDBP-294784.5
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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DFNA5
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Protein Name
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deafness, autosomal dominant 5
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Synonyms
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ICERE-1;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000387119
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InnateDB Gene
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IDBG-9886 (DFNA5)
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Protein Structure
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Function |
Involved in apoptosis and cell survival. Plays a role in the TP53-regulated cellular response to DNA damage probably by cooperating with TP53. {ECO:0000269PubMed:16897187, ECO:0000269PubMed:18223688, ECO:0000269PubMed:21522185}.
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Subcellular Localization |
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Disease Associations |
Deafness, autosomal dominant, 5 (DFNA5) [MIM:600994]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269PubMed:9771715}. Note=The disease is caused by mutations affecting the gene represented in this entry.Note=Is a tumor suppressor gene with an important role in major types of tumors. Could be a valuable molecular marker in cancer.
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Tissue Specificity |
Expressed in cochlea. Low level of expression in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas, with highest expression in placenta.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
5
[view]
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Protein-Protein |
5
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR007677
Gasdermin
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PFAM |
PF04598
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
O60443
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PhosphoSite |
PhosphoSite-O60443
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
1687
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UniGene |
Hs.599805
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RefSeq |
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HUGO |
HGNC:2810
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OMIM |
608798
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CCDS |
CCDS47563
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HPRD |
02996
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IMGT |
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EMBL |
AC003093
AF007790
AF073308
AF075171
AF131765
AK094714
AK314402
BC125065
CH236948
CH471073
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GenPept |
AAB83938
AAC39635
AAC69324
AAC69326
AAD20039
AAI25066
BAG37026
BAG52917
EAL24246
EAW93813
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