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Genetics Home Reference: your guide to understanding genetic conditions
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DFNB31

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

What is the official name of the DFNB31 gene?

The official name of this gene is “deafness, autosomal recessive 31.”

DFNB31 is the gene's official symbol. The DFNB31 gene is also known by other names, listed below.

What is the normal function of the DFNB31 gene?

From NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/25861):

This gene is thought to function in the organization and stabilization of sterocilia elongation and actin cystoskeletal assembly, based on studies of the related mouse gene. Mutations in this gene have been associated with autosomal recessive non-syndromic deafness and Usher Syndrome. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Mar 2010]

From UniProt (WHRN_HUMAN) (http://www.uniprot.org/uniprot/Q9P202):

Necessary for elongation and maintenance of inner and outer hair cell stereocilia in the organ of Corti in the inner ear.

How are changes in the DFNB31 gene related to health conditions?

Genetics Home Reference provides information about these conditions associated with changes in the DFNB31 gene:
  • nonsyndromic hearing loss
  • Usher syndrome
UniProt (WHRN_HUMAN) (http://www.uniprot.org/uniprot/Q9P202) provides the following information about the DFNB31 gene's known or predicted involvement in human disease.

Deafness, autosomal recessive, 31 (DFNB31): 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.

Usher syndrome 2D (USH2D): USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa and sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH2 is characterized by congenital mild hearing impairment with normal vestibular responses. The disease is caused by mutations affecting the gene represented in this entry.

NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/25861) lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the DFNB31 gene.
  • Deafness, autosomal recessive 31
  • Usher syndrome, type 2D
OMIM.org (http://omim.org/), a catalog designed for genetics professionals and researchers, provides the following information about the DFNB31 gene and its association with health conditions.
OMIM
Number
Title

Where is the DFNB31 gene located?

Cytogenetic Location: 9q32

Molecular Location on chromosome 9: base pairs 114,402,078 to 114,505,509

(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (http://www.ncbi.nlm.nih.gov/gene/25861))

The DFNB31 gene is located on the long (q) arm of chromosome 9 at position 32.

The DFNB31 gene is located on the long (q) arm of chromosome 9 at position 32.

More precisely, the DFNB31 gene is located from base pair 114,402,078 to base pair 114,505,509 on chromosome 9.

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 DFNB31?

You and your healthcare professional may find the following resources about DFNB31 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 DFNB31 gene or gene products?

  • CIP98
  • PDZD7B
  • USH2D
  • WHRN
  • WI

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 DFNB31?

actin ; alternative splicing ; auditory ; autosomal ; autosomal recessive ; cell ; congenital ; gene ; isoforms ; recessive ; sensorineural ; sensorineural hearing loss ; splicing ; syndrome ; transcript

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 8, 2016