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Genetics Home Reference: your guide to understanding genetic conditions
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DFNA5

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

What is the official name of the DFNA5 gene?

The official name of this gene is “deafness, autosomal dominant 5.”

DFNA5 is the gene's official symbol. The DFNA5 gene is also known by other names, listed below.

What is the normal function of the DFNA5 gene?

From NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/1687):

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 (DFNA5_HUMAN) (http://www.uniprot.org/uniprot/O60443):

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

How are changes in the DFNA5 gene related to health conditions?

Genetics Home Reference provides information about nonsyndromic hearing loss, which is associated with changes in the DFNA5 gene.
UniProt (DFNA5_HUMAN) (http://www.uniprot.org/uniprot/O60443) provides the following information about the DFNA5 gene's known or predicted involvement in human disease.

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. The disease is caused by mutations affecting the gene represented in this entry.

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

NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/1687) lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the DFNA5 gene.
  • Deafness, autosomal dominant 5
OMIM.org (http://omim.org/), a catalog designed for genetics professionals and researchers, provides the following information about the DFNA5 gene and its association with health conditions.
OMIM
Number
Title

Where is the DFNA5 gene located?

Cytogenetic Location: 7p15

Molecular Location on chromosome 7: base pairs 24,698,355 to 24,758,020

(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (http://www.ncbi.nlm.nih.gov/gene/1687))

The DFNA5 gene is located on the short (p) arm of chromosome 7 at position 15.

The DFNA5 gene is located on the short (p) arm of chromosome 7 at position 15.

More precisely, the DFNA5 gene is located from base pair 24,698,355 to base pair 24,758,020 on chromosome 7.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about DFNA5?

You and your healthcare professional may find the following resources about DFNA5 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the DFNA5 gene or gene products?

  • ICERE-1

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding DFNA5?

apoptosis ; autosomal ; autosomal dominant ; cancer ; cell ; cochlea ; colorectal ; DNA ; DNA damage ; expressed ; gene ; isoforms ; mutation ; protein ; sensorineural ; sensorineural hearing loss ; transcript ; tumor ; tumor suppressor gene

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Published: February 1, 2016