DFNA5
From Wikipedia, the free encyclopedia
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Deafness, autosomal dominant 5
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| Identifiers | ||||||||
| Symbol(s) | DFNA5; ICERE-1 | |||||||
| External IDs | OMIM: 608798 MGI: 1889850 HomoloGene: 3242 | |||||||
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| RNA expression pattern | ||||||||
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| Orthologs | ||||||||
| Human | Mouse | |||||||
| Entrez | 1687 | 54722 | ||||||
| Ensembl | ENSG00000105928 | ENSMUSG00000029821 | ||||||
| Uniprot | O60443 | Q3TBE9 | ||||||
| Refseq | NM_004403 (mRNA) NP_004394 (protein) |
NM_018769 (mRNA) NP_061239 (protein) |
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| Location | Chr 7: 24.7 - 24.76 Mb | Chr 6: 50.14 - 50.19 Mb | ||||||
| Pubmed search | [1] | [2] | ||||||
Deafness, autosomal dominant 5, also known as DFNA5, is a human gene.[1]
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.[1]
[edit] References
[edit] Further reading
- van Camp G, Coucke P, Balemans W, et al. (1996). "Localization of a gene for non-syndromic hearing loss (DFNA5) to chromosome 7p15.". Hum. Mol. Genet. 4 (11): 2159-63. PMID 8589696.
- 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:. PMID 8619474.
- Yu W, Andersson B, Worley KC, et al. (1997). "Large-scale concatenation cDNA sequencing.". Genome Res. 7 (4): 353-8. PMID 9110174.
- Van Laer L, Van Camp G, van Zuijlen D, et al. (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.
- 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. 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:. 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. 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:. 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:. PMID 12477932.
- 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:. 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. 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:. 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:. 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:. PMID 15489334.
- 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:. 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:. PMID 17427029.
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