DFNA5
From Wikipedia, the free encyclopedia
| Deafness, autosomal dominant 5 | |||||||||
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| Identifiers | |||||||||
| Symbols | DFNA5; ICERE-1 | ||||||||
| External IDs | OMIM: 608798 MGI: 1889850 HomoloGene: 3242 GeneCards: DFNA5 Gene | ||||||||
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| RNA expression pattern | |||||||||
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| More reference expression data | |||||||||
| Orthologs | |||||||||
| Species | Human | Mouse | |||||||
| Entrez | 1687 | 54722 | |||||||
| Ensembl | ENSG00000105928 | ENSMUSG00000029821 | |||||||
| UniProt | O60443 | Q3TBE9 | |||||||
| RefSeq (mRNA) | NM_001127453.1 | NM_018769.3 | |||||||
| RefSeq (protein) | NP_001120925.1 | NP_061239.1 | |||||||
| Location (UCSC) | Chr 7: 24.74 – 24.81 Mb |
Chr 6: 50.14 – 50.21 Mb |
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| PubMed search | [1] | [2] | |||||||
Non-syndromic hearing impairment protein 5 is a protein that in humans is encoded by the DFNA5 gene.[1][2][3]
Hearing impairment is a heterogeneous condition with over 40 loci described. The protein encoded by this gene is expressed in fetal cochlea, however, its function is not known. Nonsyndromic hearing impairment is associated with a mutation in this gene.[3]
[edit] References
- ^ van Camp G, Coucke P, Balemans W, van Velzen D, van de Bilt C, van Laer L, Smith RJ, Fukushima K et al (Mar 1996). "Localization of a gene for non-syndromic hearing loss (DFNA5) to chromosome 7p15". Hum Mol Genet 4 (11): 2159–63. doi:10.1093/hmg/4.11.2159. PMID 8589696.
- ^ Van Laer L, Van Camp G, van Zuijlen D, Green ED, Verstreken M, Schatteman I, Van de Heyning P, Balemans W, Coucke P, Greinwald JH, Smith RJ, Huizing E, Willems P (Mar 1998). "Refined mapping of a gene for autosomal dominant progressive sensorineural hearing loss (DFNA5) to a 2-cM region, and exclusion of a candidate gene that is expressed in the cochlea". Eur J Hum Genet 5 (6): 397–405. PMID 9450185.
- ^ a b "Entrez Gene: DFNA5 deafness, autosomal dominant 5". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1687.
[edit] Further reading
- Andersson B, Wentland MA, Ricafrente JY et al (1996). "A "double adaptor" method for improved shotgun library construction". Anal. Biochem. 236 (1): 107–13. doi:10.1006/abio.1996.0138. PMID 8619474.
- Yu W, Andersson B, Worley KC et al (1997). "Large-scale concatenation cDNA sequencing". Genome Res. 7 (4): 353–8. doi:10.1101/gr.7.4.353. PMC 139146. PMID 9110174. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139146.
- Thompson DA, Weigel RJ (1998). "Characterization of a gene that is inversely correlated with estrogen receptor expression (ICERE-1) in breast carcinomas". Eur. J. Biochem. 252 (1): 169–77. doi:10.1046/j.1432-1327.1998.2520169.x. PMID 9523727.
- Van Laer L, Huizing EH, Verstreken M et al (1998). "Nonsyndromic hearing impairment is associated with a mutation in DFNA5". Nat. Genet. 20 (2): 194–7. doi:10.1038/2503. PMID 9771715.
- Grottke C, Mantwill K, Dietel M et al (2000). "Identification of differentially expressed genes in human melanoma cells with acquired resistance to various antineoplastic drugs". Int. J. Cancer 88 (4): 535–46. doi:10.1002/1097-0215(20001115)88:4<535::AID-IJC4>3.0.CO;2-V. PMID 11058868.
- Van Laer L, DeStefano AL, Myers RH et al (2003). "Is DFNA5 a susceptibility gene for age-related hearing impairment?". Eur. J. Hum. Genet. 10 (12): 883–6. doi:10.1038/sj.ejhg.5200878. PMID 12461698.
- 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.
- Gregan J, Van Laer L, Lieto LD et al (2003). "A yeast model for the study of human DFNA5, a gene mutated in nonsyndromic hearing impairment". Biochim. Biophys. Acta 1638 (2): 179–86. PMID 12853124.
- Hillier LW, Fulton RS, Fulton LA et al (2003). "The DNA sequence of human chromosome 7". Nature 424 (6945): 157–64. doi:10.1038/nature01782. PMID 12853948.
- Yu C, Meng X, Zhang S et al (2004). "A 3-nucleotide deletion in the polypyrimidine tract of intron 7 of the DFNA5 gene causes nonsyndromic hearing impairment in a Chinese family". Genomics 82 (5): 575–9. doi:10.1016/S0888-7543(03)00175-7. PMID 14559215.
- Bischoff AM, Luijendijk MW, Huygen PL et al (2004). "A novel mutation identified in the DFNA5 gene in a Dutch family: a clinical and genetic evaluation". Audiol. Neurootol. 9 (1): 34–46. doi:10.1159/000074185. PMID 14676472.
- 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.
- Gerhard DS, Wagner L, Feingold EA et al (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=528928.
- Masuda Y, Futamura M, Kamino H et al (2006). "The potential role of DFNA5, a hearing impairment gene, in p53-mediated cellular response to DNA damage". J. Hum. Genet. 51 (8): 652–64. doi:10.1007/s10038-006-0004-6. PMID 16897187.
- Van Laer L, Meyer NC, Malekpour M et al (2007). "A novel DFNA5 mutation does not cause hearing loss in an Iranian family". J. Hum. Genet. 52 (6): 549–52. doi:10.1007/s10038-007-0137-2. PMID 17427029.
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