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Description for Protein DFNA5

deafness, autosomal dominant 5
1 total interacting proteins;
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
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] (PubMed Links)
Domains and Motifs:
None Available
Gene Ontology:
Gene Ontology Annotations
KEGG - Enzyme ID(s):
None Available
KEGG - Orthology:
None Available
KEGG - Pathway(s):
None Available
Nomenclature / Alternative Names:
Nonsyndromic hearing impairment protein; Deafness autosomal dominant 5 protein; Inversely correlated with estrogen receptor expression 1; ICERE 1; Deafness autosomal dominant nonsyndromic sensorineural 5
Approved Symbol:
DFNA5
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 4
Human (de-) phosphorylation sites: 4; No platelet phosphorylation sites
Phosphorylation Targets:
Total phosphorylation targets: 0
Human phosphorylation targets: 0;Predicted platelet targets: 0
Protein Characteristics:
Isoform-specific Information
Icon DrugsAssociated Drugs (DrugBank Accession):

None Available

Associated Genetic Diseases:

  • Deafness, autosomal dominant nonsyndromic sensorineural 5(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 3 : 0
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 02996 Entrez Gene ID: 1687 OMIM ID: 608798 Swissprot Accession: O60443; A4FVA8; B3KT05;