WHRN
Sign in to saveAlso known as CIP98, PDZD7B, USH2D, WI, DFNB31, whirlin, Whirin
Whirlin is a protein that in humans is encoded by the DFNB31 gene.
Gene data
WHRN- Name
- whirlin
- Type
- protein-coding
- Aliases
- CIP98, DFNB31, PDZD7B, USH2D, WI
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 results in multiple transcript variants. [provided by RefSeq, Nov 2016].
via MyGene.info
Wikidata facts
- Image
- Protein DFNB31 PDB 1uez.png
Show 5 more facts
- HomoloGene ID
- 18739
- genomic end
- 117267730
- exact match
- identifiers.org/ncbigene/25861
- genomic start
- 117164360
- cytogenetic location
- 9q32
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Article
3 sectionsContents
- References
- Further reading
- External links
Whirlin is a protein that in humans is encoded by the DFNB31 gene.
In rat brain, WHRN interacts with a calmodulin-dependent serine kinase, CASK, and may be involved in the formation of scaffolding protein complexes that facilitate synaptic transmission in the central nervous system (CNS). Mutations in this gene, also known as WHRN, cause autosomal recessive deafness.