Symbol: Name: ID: |
DFNB31 deafness, autosomal recessive 31 GFS:5480 |
Gene name: | DFNB31 |
Chromosome: | 9q32-q34 |
Previous Symbols: | |
Previous Names: | |
Aliases: | CIP98, WHRN, USH2D |
Name Aliases: | whirlin |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:2682003 | Rat Genome Database ID: | RGD:631330 |
HGNC ID: | HGNC:16361 | RefSeq IDs: | NM_001083885 |
Entrez Gene ID: | 25861 | Ensembl Gene ID: | ENSG00000095397 |
VEGA IDs: | OTTHUMG00000020539 | UniProt ID: | Q9P202 |
UCSC ID: | uc004biz.3 | OMIM ID: | 607928 |
Pubmed: | PMID12833159 PMID 17171570 | ||
CCDS IDs: | CCDSCCDS6806.1 CCDS CCDS43870.1 |
Whirlin is a protein that in humans is encoded by the DFNB31 gene.
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].
Function: Necessary for elongation and maintenance of inner and outer hair cell stereocilia in the organ of Corti in the inner ear (By similarity).
Products for DFNB31 gene
Catalog | Product Name | Application | Company |
GFS:E05480 | deafness, autosomal recessive 31; ELISA kit | ELISA | n/a |
GFS:A05480 | deafness, autosomal recessive 31; Anti | ANTIBODIES | n/a |
GFS:P05480 | deafness, autosomal recessive 31; Protien | Protien | n/a |