DFNA5

Deafness, autosomal dominant 5
Identifiers
Symbols	DFNA5 ; ICERE-1
External IDs	Template:OMIM5 Template:MGI HomoloGene: 3242
Gene ontology Biological process Template:GNF GO 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 dominant 5, also known as DFNA5, is a human gene.

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.

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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Yu W, Andersson B, Worley KC; et al. (1997). "Large-scale concatenation cDNA sequencing". Genome Res. 7 (4): 353–8. PMID 9110174.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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:10.1038/2503. PMID 9771715.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) 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)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.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)
• 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. PMID 15489334.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)