deafness, autosomal dominant 5

Symbol

DFNA5 (may also be known as: None)

Organism

Human

Description

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]

Orthologs

Symbol	Species
dfna5	Danio rerio
Dfna5	Mus musculus

Links to external resources

Entrez Gene: 1687
OMIM: 608798
Ensembl: ENSG00000105928
UniProt: O60443
UniGene: Hs.520708
GeneCards

Changes associated with this gene

Identifier	Name	Type	Tissues	Organism	Gene	Data	Actions
DAA3094	Gene expression of DFNA5 decreases with age	Molecular	skin	Human	DFNA5	—

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GO Terms

GO ID	GO Term	GO Category
GO:0007605	sensory perception of sound	biological_process
GO:0060113	inner ear receptor cell differentiation	biological_process