DFNA5 gene

DFNA5, deafness associated tumor suppressor

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Involved in apoptosis and cell survival. Plays a role in the TP53-regulated cellular response to DNA damage probably by cooperating with TP53.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Deafness, autosomal dominant 5

From UniProt:

Deafness, autosomal dominant, 5 (DFNA5): 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. [MIM:600994]

Is a tumor suppressor gene with an important role in colorectal cancer (CRC).

Cytogenetic Location: 7p15, which is the short (p) arm of chromosome 7 at position 15

Molecular Location: base pairs 24,698,355 to 24,758,020 on chromosome 7 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 7p15, which is the short (p) arm of chromosome 7 at position 15
  • ICERE-1