DFNB31

Deafness, autosomal recessive 31
PDB rendering based on 1uez.
Available structures PDB 1UEZ, 1UF1, 1UFX
Identifiers
Symbols	DFNB31; CIP98; DKFZp434N014; KIAA1526; USH2D; WHRN; WI
External IDs	OMIM: 607928 MGI: 2682003 HomoloGene: 18739 GeneCards: DFNB31 Gene
Gene Ontology Molecular function • protein binding • protein domain specific binding Cellular component • photoreceptor inner segment • stereocilia ankle link complex • membrane fraction • soluble fraction • cytoplasm • actin filament • cilium • axon • growth cone • photoreceptor connecting cilium • stereocilium • neuronal cell body • dendritic shaft • synapse Biological process • retina homeostasis • sensory perception of sound • sensory perception of light stimulus • inner ear receptor stereocilium organization Sources: Amigo / QuickGO
RNA expression pattern
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

• Holm G, Björkholm M, Mellstedt H, Johansson B (1976). "Cytotoxic activity of lymphocytes from patients with Hodgkin's disease". Clin. Exp. Immunol. 21 (3): 376–83. PMC 1538308. PMID 1081933. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1538308. 
• Nagase T, Kikuno R, Ishikawa K et al. (2000). "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. doi:10.1093/dnares/7.2.143. PMID 10819331. 
• Mustapha M, Chouery E, Chardenoux S et al. (2002). "DFNB31, a recessive form of sensorineural hearing loss, maps to chromosome 9q32-34". Eur. J. Hum. Genet. 10 (3): 210–2. doi:10.1038/sj.ejhg.5200780. PMID 11973626. 
• Nakayama M, Kikuno R, Ohara O (2003). "Protein–Protein Interactions Between Large Proteins: Two-Hybrid Screening Using a Functionally Classified Library Composed of Long cDNAs". Genome Res. 12 (11): 1773–84. doi:10.1101/gr.406902. PMC 187542. PMID 12421765. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=187542. 
• Strausberg RL, Feingold EA, Grouse LH et al. (2003). "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. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241. 
• Yap CC, Liang F, Yamazaki Y et al. (2003). "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. doi:10.1046/j.1471-4159.2003.01647.x. PMID 12641734. 
• Ota T, Suzuki Y, Nishikawa T et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039. 
• Kimura K, Wakamatsu A, Suzuki Y et al. (2006). "Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1356129. 
• van Wijk E, van der Zwaag B, Peters T et al. (2006). "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. doi:10.1093/hmg/ddi490. PMID 16434480.