TAG for DFNA5

Gene content

Symbol

DFNA5 ( by HUGO)

Name

Deafness, Autosomal Dominant 5

Category

Tumor suppressor gene

Alias

Deafness
Autosomal Dominant 5
Inversely Correlated With Estrogen Receptor Expression 1
ICERE-1
Non-Syndromic Hearing Impairment Protein 5
Nonsyndromic Hearing Impairment Protein
ICERE1

Cytogenetic band

NCBI: 7p15 Ensembl: 7p15.3

Protein information

DFNA5_HUMAN

Size: 496 amino acids

Mass: 54555 Da

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 [IMAGE] Custom PCR Arrays for DFNA5 Primer Products: [IMAGE] OriGene qPCR primer pairs and temp

Function:

UniProtKB/Swiss-Prot Summary: DFNA5_HUMAN, O60443 Function: Involved in apoptosis and cell survival. Plays a role in the TP53-regulated cellular response to DNA damage probably by cooperating with TP53

Similarity:

Belongs to the gasdermin family [IMAGE]

Protein Domain/Family
Source	ID	Domain	Name	Type
InterPro	IPR007677	Gasdermin	DFNA5 protein	Family
Blocks	IPB007677	DFNA5 protein	DFNA5 protein

Gene Ontology
Type	Term	Evidence	Source	Pub
Biological Process	negative regulation of cell proliferation	IDA	GOA	18223688
Biological Process	sensory perception of sound	TAS	GOA	9771715

Disorder & Mutation
Source	Disease
Genatlas	neurosensory dominant deafness,5,non syndromic,postlingual,progressive,starting in the high tones
SWISS-PROT	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. Note=The disease is caused by mutations affecting the gene represented in this entry
SWISS-PROT	Note=Is a tumor suppressor gene with an important role in major types of tumors. Could be a valuable molecular marker in cancer

DFNA5 cross reference