DFNB31

DFNB31
Deafness, autosomal recessive 31

PDB rendering based on 1uez.
Identifiers
Symbols DFNB31; CIP98; DKFZp434N014; KIAA1526; USH2D; WHRN; WI
External IDs OMIM607928 MGI2682003 HomoloGene18739 GeneCards: DFNB31 Gene
RNA expression pattern
PBB GE DFNB31 221887 s at tn.png
PBB GE DFNB31 47553 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 25861 73750
Ensembl ENSG00000095397 ENSMUSG00000039137
UniProt Q9P202 Q3TZC8
RefSeq (mRNA) NM_001083885.2 NM_001008791
RefSeq (protein) NP_001077354.2 NP_001008791
Location (UCSC) Chr 9:
117.16 – 117.27 Mb
Chr 4:
63.08 – 63.16 Mb
PubMed search [1] [2]

Whirlin is a protein that in humans is encoded by the DFNB31 gene.[1][2][3]

In rat brain, Cip98 interacts with a calmodulin-dependent serine kinase, CASK (MIM 300172), and may be involved in the formation of scaffolding protein complexes that facilitate synaptic transmission in the central nervous system (CNS) (Yap et al., 2003). Mutations in this gene, also known as WHRN, cause DFNB31 (MIM 607084).[supplied by OMIM][3]

References

  1. ^ Mburu P, Mustapha M, Varela A, Weil D, El-Amraoui A, Holme RH, Rump A, Hardisty RE, Blanchard S, Coimbra RS, Perfettini I, Parkinson N, Mallon AM, Glenister P, Rogers MJ, Paige AJ, Moir L, Clay J, Rosenthal A, Liu XZ, Blanco G, Steel KP, Petit C, Brown SD (Aug 2003). "Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31". Nat Genet 34 (4): 421–8. doi:10.1038/ng1208. PMID 12833159. 
  2. ^ Ebermann I, Scholl HP, Charbel Issa P, Becirovic E, Lamprecht J, Jurklies B, Millan JM, Aller E, Mitter D, Bolz H (Mar 2007). "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 (2): 203–11. doi:10.1007/s00439-006-0304-0. PMID 17171570. 
  3. ^ a b "Entrez Gene: DFNB31 deafness, autosomal recessive 31". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=25861. 

Further reading


Wikimedia Foundation. 2010.

Игры ⚽ Поможем сделать НИР

Look at other dictionaries:

  • Whirlina — Otros nombres Sordera, autosómica recesiva 31 Símbolo WHRN …   Wikipedia Español

  • Usher syndrome — Classification and external resources OMIM 276900 276901 DiseasesDB 13611 …   Wikipedia

  • Nonsyndromic deafness — is hearing loss that is not associated with other signs and symptoms. In contrast, syndromic deafness involves hearing loss that occurs with abnormalities in other parts of the body. Genetic changes are related to the following types of… …   Wikipedia

  • PDZ domain — Molecular structure of the PDZ domain included in the human GOPC (Golgi associated PDZ and coiled coil motif containing protein) protein Identifiers Symbol PDZ …   Wikipedia

  • Síndrome de Usher — Clasificación y recursos externos OMIM 276900 …   Wikipedia Español

Share the article and excerpts

Direct link
Do a right-click on the link above
and select “Copy Link”