DFNB31

From Wikipedia, the free encyclopedia


Deafness, autosomal recessive 31
PDB rendering based on 1uez.
Available structures: 1uez, 1uf1, 1ufx
Identifiers
Symbol(s) DFNB31; CIP98; DKFZP434N014; KIAA1526; RP11-9M16.1; USH2D; WHRN
External IDs OMIM: 607928 MGI: 2682003 HomoloGene: 18739
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 25861 73750
Ensembl ENSG00000095397 ENSMUSG00000039137
Uniprot Q9P202 Q3TZC8
Refseq NM_015404 (mRNA)
NP_056219 (protein)		 NM_001008791 (mRNA)
NP_001008791 (protein)
Location Chr 9: 116.2 - 116.31 Mb Chr 4: 62.9 - 62.98 Mb
Pubmed search [1] [2]

Deafness, autosomal recessive 31, also known as DFNB31, is a human gene.[1]

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][1]

[edit] References

  1. ^ a b Entrez Gene: DFNB31 deafness, autosomal recessive 31.

[edit] 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. 
  • 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. 
  • 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. PMID 12421765. 
  • 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. 
  • 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. 
  • 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. 
  • 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. PMID 16344560. 
  • 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. 
  • 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. 
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