DFNB31 explained

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

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).^[4] Mutations in this gene, also known as WHRN, cause autosomal recessive deafness.

Further reading

• Holm G, Björkholm M, Mellstedt H, Johansson B . Cytotoxic activity of lymphocytes from patients with Hodgkin's disease . Clin. Exp. Immunol. . 21 . 3 . 376–83 . 1976 . 1081933 . 1538308 .
• Nagase T . 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 . 2 . 143–50 . 2000 . 10819331 . 10.1093/dnares/7.2.143 . vanc. Kikuno R . Ishikawa K . 3 . Hirosawa . M . Ohara . O . free.
• Mustapha M . DFNB31, a recessive form of sensorineural hearing loss, maps to chromosome 9q32-34 . Eur. J. Hum. Genet. . 10 . 3 . 210–2 . 2002 . 11973626 . 10.1038/sj.ejhg.5200780 . vanc. Chouery E . Chardenoux S . 3 . Naboulsi . Mohamed . Paronnaud . Joël . Lemainque . Arnaud . Mégarbané . André . Loiselet . Jacques . Weil . Dominique . free .
• Nakayama M, Kikuno R, Ohara O . Protein–Protein Interactions Between Large Proteins: Two-Hybrid Screening Using a Functionally Classified Library Composed of Long cDNAs . Genome Res. . 12 . 11 . 1773–84 . 2003 . 12421765 . 10.1101/gr.406902 . 187542 .
• Strausberg RL . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . vanc. Feingold EA . Grouse LH . 3 . Derge . JG . Klausner . RD . Collins . FS . Wagner . L . Shenmen . CM . Schuler . GD . 2002PNAS...9916899M . free .
• Ota T . Complete sequencing and characterization of 21,243 full-length human cDNAs . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . vanc. Suzuki Y . Nishikawa T . 3 . Otsuki . Tetsuji . Sugiyama . Tomoyasu . Irie . Ryotaro . Wakamatsu . Ai . Hayashi . Koji . Sato . Hiroyuki . free .
• Kimura K . Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes . Genome Res. . 16 . 1 . 55–65 . 2006 . 16344560 . 10.1101/gr.4039406 . 1356129 . vanc. Wakamatsu A . Suzuki Y . 3 . Ota . T . Nishikawa . T . Yamashita . R . Yamamoto . J . Sekine . M . Tsuritani . K .
• van Wijk E . 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 . 5 . 751–65 . 2006 . 16434480 . 10.1093/hmg/ddi490 . vanc. van der Zwaag B . Peters T . 3 . Zimmermann . U . Te Brinke . H . Kersten . FF . Märker . T . Aller . E . Hoefsloot . LH . free .

External links

• GeneReviews/NCBI/NIH/UW entry on Usher Syndrome Type II

Notes and 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 . 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 . Aug 2003 . 12833159 . 10.1038/ng1208 . 39603776 .
2. Ebermann I, Scholl HP, Charbel Issa P, Becirovic E, Lamprecht J, Jurklies B, Millan JM, Aller E, Mitter D, Bolz H . 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 . Mar 2007 . 17171570 . 10.1007/s00439-006-0304-0 . 22632047 .
3. Web site: Entrez Gene: DFNB31 deafness, autosomal recessive 31.
4. Yap CC . CIP98, a novel PDZ domain protein, is expressed in the central nervous system and interacts with calmodulin-dependent serine kinase . J. Neurochem. . 85 . 1 . 123–34 . 2003 . 12641734 . 10.1046/j.1471-4159.2003.01647.x . vanc. Liang F . Yamazaki Y . 3 . Muto . Yuko . Kishida . Haruo . Hayashida . Tsuyako . Hashikawa . Tsutomu . Yano . Ryoji . 46526881 . free .