InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: DFNA5

Summary

InnateDB Protein

IDBP-294783.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

DFNA5

Protein Name

deafness, autosomal dominant 5

Synonyms

ICERE-1;

Species

Homo sapiens

Ensembl Protein

ENSP00000386670

InnateDB Gene

IDBG-9886 (DFNA5)

Protein Structure

UniProt Annotation

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}.

Subcellular Localization

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.

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.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.

Experimentally validated
Total	5 [view]
Protein-Protein	5 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession

GO Term

Biological Process

GO:0006915	apoptotic process
GO:0007605	sensory perception of sound
GO:0008285	negative regulation of cell proliferation
GO:2001244	positive regulation of intrinsic apoptotic signaling pathway