DFNB31

Deafness, autosomal recessive 31
PDB rendering based on 1uez.
Available structures PDB Ortholog search: Template:Homologene2PDBe PDBe, Template:Homologene2uniprot RCSB List of PDB id codes 1uez​, 1uf1​, 1ufx​
Identifiers
Symbols	DFNB31 ; CIP98; DKFZP434N014; KIAA1526; RP11-9M16.1; USH2D; WHRN
External IDs	Template:OMIM5 Template:MGI HomoloGene: 18739
Gene ontology Molecular function Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Biological process Template:GNF GO
RNA expression pattern
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Deafness, autosomal recessive 31, also known as DFNB31, is a human gene.

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]

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. PMID 1081933.CS1 maint: Multiple names: authors list (link)
• 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. PMID 10819331.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 12421765.CS1 maint: Multiple names: authors list (link)
• 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. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 12641734.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Mburu P, Mustapha M, Varela A; et al. (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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 16344560.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Ebermann I, Scholl HP, Charbel Issa P; et al. (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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)