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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 27 Aug 2015.

Whirlin

whirlin, DFNB31, CIP98, USH2D, Whrn
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 NCBI)
Top mentioned proteins: HAIR, Actin, USH1C, CAN, HAD
Papers on whirlin
Gene therapy restores hair cell stereocilia morphology in inner ears of deaf whirler mice.
New
Cunningham et al., Bethesda, United States. In Mol Ther, 26 Sep 2015
Wild-type whirlin cDNA was delivered via adeno-associated virus (AAV8) by injection through the round window of the cochleas in neonatal whirler mice.
Distinct Expression and Function of Whirlin Isoforms in the Inner Ear and Retina: an Insight into Pathogenesis of USH2D and DFNB31.
New
Yang et al., Salt Lake City, United States. In Hum Mol Genet, 24 Sep 2015
Here, we addressed this issue by investigating the DFNB31 gene, whose mutations cause USH2D or DFNB31 depending on their position.
Genetics of long-term treatment outcome in bipolar disorder.
New
Serretti et al., Bologna, Italy. In Prog Neuropsychopharmacol Biol Psychiatry, 19 Sep 2015
Genes previously involved in the susceptibility to BD (DFNB31, SORCS2, NRXN1, CNTNAP2, GRIN2A, GRM4, GRIN2B), antidepressant action (DEPTOR, CHRNA7, NRXN1), and mood stabilizer or antipsychotic action (NTRK2, CHRNA7, NRXN1) may affect long-term treatment outcome of BD.
The PDZ-domain protein Whirlin facilitates mechanosensory signaling in mammalian proprioceptors.
New
Jessell et al., Aberdeen, United Kingdom. In J Neurosci, Mar 2015
We show here that Whirlin/Deafness autosomal recessive 31 (DFNB31), a PDZ-scaffold protein involved in vestibular and auditory hair cell transduction, is also expressed by proprioceptive sensory neurons (pSNs) in dorsal root ganglia in mice.
Whirlin and PDZ domain-containing 7 (PDZD7) proteins are both required to form the quaternary protein complex associated with Usher syndrome type 2.
New
Yang et al., Salt Lake City, United States. In J Biol Chem, Jan 2015
USH2A, GPR98, and WHRN are three known causative genes of USH2, whereas PDZD7 is a modifier gene found in USH2 patients.
Identification of a Novel MYO15A Mutation in a Chinese Family with Autosomal Recessive Nonsyndromic Hearing Loss.
New
Deng et al., Changsha, China. In Plos One, Dec 2014
The variant was predicted to interfere with the formation of the Myosin XVa-whirlin-Eps8 complex at the tip of stereocilia, which is indispensable for stereocilia elongation.
Regulation of synaptic development and function by the Drosophila PDZ protein Dyschronic.
New
Koh et al., Philadelphia, United States. In Development, Dec 2014
DYSC is the Drosophila homolog of whirlin/DFNB31, a PDZ domain protein linked to Usher syndrome, the most common form of human deaf-blindness.
Domain analyses of Usher syndrome causing Clarin-1 and GPR98 protein models.
Rehman et al., Faisalābād, Pakistan. In Bioinformation, 2013
CDH23, CLRN1, GPR98, MYO7A, PCDH15, USH1C, USH1G, USH2A and DFNB31 can result in Usher syndrome or non-syndromic deafness.
The actin-binding proteins eps8 and gelsolin have complementary roles in regulating the growth and stability of mechanosensory hair bundles of mammalian cochlear outer hair cells.
Brown et al., Sheffield, United Kingdom. In Plos One, 2013
Gelsolin is part of a whirlin scaffolding protein complex at the stereocilia tip, which has been shown to interact with other actin regulatory molecules such as Eps8.
Usher syndrome protein network functions in the retina and their relation to other retinal ciliopathies.
Review
Wolfrum et al., Mainz, Germany. In Adv Exp Med Biol, 2013
All USH1 and 2 proteins are organized into protein networks by the scaffold proteins harmonin (USH1C), whirlin (USH2D) and SANS (USH1G).
Targeted next generation sequencing for molecular diagnosis of Usher syndrome.
Millán et al., Valencia, Spain. In Orphanet J Rare Dis, 2013
METHODS: A custom HaloPlex panel for Illumina platforms was designed to capture all exons of the 10 known causative Usher syndrome genes (MYO7A, USH1C, CDH23, PCDH15, USH1G, CIB2, USH2A, GPR98, DFNB31 and CLRN1), the two Usher syndrome-related genes (HARS and PDZD7) and the two candidate genes VEZT and MYO15A.
Non-USH2A mutations in USH2 patients.
GeneRIF
Roux et al., Montpellier, France. In Hum Mutat, 2012
Mutation found in USH2A, GPR98, or DFNB31 account for the vast majority of USH2 patients and their analysis provide a robust pathway for routine molecular diagnosis.
Regulation of stereocilia length by myosin XVa and whirlin depends on the actin-regulatory protein Eps8.
GeneRIF
Kachar et al., Bethesda, United States. In Curr Biol, 2011
It was concluded that MyoXVa, whirlin, and Eps8 are integral components of the stereocilia tip complex, where Eps8 is a central actin-regulatory element for elongation of the stereocilia actin core.
A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family.
GeneRIF
Zeitz et al., Paris, France. In Mol Vis, 2010
A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family.
Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin.
GeneRIF
Millán et al., Valencia, Spain. In Mol Vis, 2009
DFNB31 is not a major cause of Usher syndrome.
Overexpression of the signal peptide whirlin isoform 2 is related to disease progression in colorectal cancer patients.
GeneRIF
Kusunoki et al., Tsu, Japan. In Int J Oncol, 2009
Overexpression of the signal peptide whirlin isoform 2 is related to disease progression in colorectal cancer patients.
The role of the MAGUK protein CASK in neural development and synaptic function.
Review
Hsueh, Taipei, Taiwan. In Curr Med Chem, 2005
These proteins, whose interactions with CASK are reviewed here, include the Parkinson's disease molecule parkin, the adhesion molecule neurexin, syndecans, calcium channel proteins, the cytoplasmic adaptor protein Mint1, Veli/mLIN-7/MALS, SAP97, caskin and CIP98, transcription factor Tbr-1, and nucleosome assembly protein CINAP.
Myosin-XVa is required for tip localization of whirlin and differential elongation of hair-cell stereocilia.
Impact
GeneRIF
Friedman et al., Rockville, United States. In Nat Cell Biol, 2005
myosin-XVa is a motor protein that, in vivo, interacts with the third PDZ domain of whirlin through its carboxy-terminal PDZ-ligand. Myosin-XVa then delivers whirlin to the tips of stereocilia.
Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31.
Impact
GeneRIF
Brown et al., United Kingdom. In Nat Genet, 2003
Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31.
Usher Syndrome Type II
Review
Lentz et al., Seattle, United States. In Unknown Journal, 2000
Biallelic mutations in one of three genes are known to cause Usher syndrome type II: USH2A (accounting for up to 80% of cases), GPR98 (VLGR1), and DFNB31.
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