WHRN

Also known as CIP98, PDZD7B, USH2D, WI, DFNB31, whirlin, Whirin

Whirlin is a protein that in humans is encoded by the DFNB31 gene.

In the Vinony graph

Vinony's link graph records 6 inbound references to WHRN, and connects out to PubMed, Ensembl genome database project and protein.

It sits within the topics Genes mutated in mice and Genes on human chromosome 9.

Vinony links it to 5 Wikipedia language editions.

Gene data

WHRN

Name: whirlin
Type: protein-coding
Position: 114,402,078–114,505,530 (−)
Aliases: CIP98, DFNB31, PDZD7B, USH2D, WI
Ensembl: ENSG00000095397
RefSeq RNA: NM_001083885.3, NM_001173425.2, NM_001346890.1, NM_015404.4, XM_011518485.2
RefSeq protein: NP_001077354.2, NP_001166896.1, NP_001333819.1, NP_056219.3, XP_011516787.1

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].

Gene Ontology

Biological process

retina homeostasis retina homeostasis retina homeostasis sensory perception of sound sensory perception of sound cerebellar Purkinje cell layer formation establishment of protein localization detection of mechanical stimulus involved in sensory perception of sound

Molecular function

protein binding identical protein binding identical protein binding

Cellular component

photoreceptor inner segment photoreceptor inner segment photoreceptor inner segment stereocilia ankle link stereocilia ankle link stereocilia ankle link stereocilia ankle link complex stereocilia ankle link complex

Pathways

Sensory processing of sound Sensory processing of sound by inner hair cells of the cochlea Sensory processing of sound by outer hair cells of the cochlea Sensory Perception Ciliary landscape

via MyGene.info

Gene · Ensembl

whirlin

Symbol: WHRN
Biotype: Protein coding
Organism: Homo sapiens
Location: 9:114,402,078-114,505,530
Strand: Reverse (−)
Assembly: GRCh38

View on Ensembl →

via Ensembl · EMBL-EBI

Wikidata facts

Instance of: gene
Image: Protein DFNB31 PDB 1uez.png

Show 7 more facts

HomoloGene ID: 18739
genomic end: 117267730
found in taxon: Homo sapiens
exact match: identifiers.org/ncbigene/25861
genomic start: 117164360
chromosome: human chromosome 9
cytogenetic location: 9q32

Sources (5)

via Wikidata · CC0

~1 min read

Encyclopedic overview

3 sections

Contents

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.

Excerpted from Wikipedia’s “WHRN” article, available under the CC BY-SA 4.0 licence.