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Whirlin (WHRN)

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DFNB31; CIP98; USH2D; WHRN; Deafness, autosomal recessive 31

Whirlin (WHRN)
CCC L065
HGNC 16361
MGI 2682003
PubMed 12833159
RGD 631330
UniProt Q9P202
Whirlin is a protein encoded by the DFNB31 gene.In rat brain, Cip98 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.
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.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Whirlin (WHRN) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Whirlin (WHRN) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Whirlin (WHRN) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Whirlin (WHRN) CLIA Kit Customized Service Offer
n/a ELISA Kit for Whirlin (WHRN) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Whirlin (WHRN) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Whirlin (WHRN) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Whirlin (WHRN) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Whirlin (WHRN) CLIA Kit Customized Service Offer
n/a ELISA Kit for Whirlin (WHRN) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Whirlin (WHRN) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Whirlin (WHRN) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Whirlin (WHRN) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Whirlin (WHRN) CLIA Kit Customized Service Offer
n/a ELISA Kit for Whirlin (WHRN) ELISA Kit Customized Service Offer
  1. "Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."DNA Res. 7:143-150(2000) [PubMed] [Europe PMC] [Abstract]
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  3. "The full-ORF clone resource of the German cDNA consortium."BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
  4. "DNA sequence and analysis of human chromosome 9." Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  6. "DFNB31, a recessive form of sensorineural hearing loss, maps to chromosome 9q32-34."Eur. J. Hum. Genet. 10:210-212(2002) [PubMed] [Europe PMC] [Abstract]
  7. "Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31." Nat. Genet. 34:421-428(2003) [PubMed] [Europe PMC] [Abstract]
  8. "Identification of a novel frameshift mutation in the DFNB31/WHRN gene in a Tunisian consanguineous family with hereditary non-syndromic recessive hearing loss."Hum. Mutat. 25:503-503(2005) [PubMed] [Europe PMC] [Abstract]
  9. "The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1."Hum. Mol. Genet. 15:751-765(2006) [PubMed] [Europe PMC] [Abstract]
  10. "A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss."Hum. Genet. 121:203-211(2007) [PubMed] [Europe PMC] [Abstract]
  11. "MPP1 links the Usher protein network and the Crumbs protein complex in the retina."Hum. Mol. Genet. 16:1993-2003(2007) [PubMed] [Europe PMC] [Abstract]
  12. "Solution structure of PDZ domains of human KIAA1526 protein."Submitted (DEC-2003) to the PDB data bank