O60443.2
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
Observed MW: 55KDa Calculated MW: 10kDa/36kDa/54kDa
NCBI Official Full Name
Non-syndromic hearing impairment protein 5
NCBI Official Synonym Full Names
deafness, autosomal dominant 5
NCBI Official Synonym Symbols
NCBI Protein Information
non-syndromic hearing impairment protein 5; nonsyndromic hearing impairment protein; inversely correlated with estrogen receptor expression 1
UniProt Protein Name
Non-syndromic hearing impairment protein 5
UniProt Synonym Protein Names
Inversely correlated with estrogen receptor expression 1; ICERE-1
UniProt Synonym Gene Names
UniProt Entry Name
DFNA5_HUMAN
NCBI Summary for DFNA5
Hearing impairment is a heterogeneous condition with over 40 loci described. The protein encoded by this gene is expressed in fetal cochlea, however, its function is not known. Nonsyndromic hearing impairment is associated with a mutation in this gene. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
UniProt Comments for DFNA5
DFNA5: Involved in apoptosis and cell survival. Plays a role in the TP53-regulated cellular response to DNA damage probably by cooperating with TP53. Defects in DFNA5 are the cause of deafness autosomal dominant type 5 (DFNA5). DFNA5 is a form of 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. Is a tumor suppressor gene with an important role in major types of tumors. Could be a valuable molecular marker in cancer. Belongs to the gasdermin family. 3 isoforms of the human protein are produced by alternative splicing.
Protein type: Tumor suppressor
Chromosomal Location of Human Ortholog: 7p15
Cellular Component: cytoplasm
Biological Process: negative regulation of cell proliferation; sensory perception of sound; inner ear receptor cell differentiation; apoptosis
Disease: Deafness, Autosomal Dominant 5
Research Articles on DFNA5
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Products associated with anti-DFNA5 antibody
Diseases associated with anti-DFNA5 antibody
Organs/Tissues associated with anti-DFNA5 antibody
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