2024-04-19 12:34:29, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001127453 2276 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens deafness, autosomal dominant 5 (DFNA5), transcript variant 2, mRNA. ACCESSION NM_001127453 VERSION NM_001127453.1 GI:188536091 KEYWORDS RefSeq. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 1 to 2276) AUTHORS Yokomizo,K., Harada,Y., Kijima,K., Shinmura,K., Sakata,M., Sakuraba,K., Kitamura,Y., Shirahata,A., Goto,T., Mizukami,H., Saito,M., Kigawa,G., Nemoto,H. and Hibi,K. TITLE Methylation of the DFNA5 gene is frequently detected in colorectal cancer JOURNAL Anticancer Res. 32 (4), 1319-1322 (2012) PUBMED 22493364 REMARK GeneRIF: http://www.opm.gov/insure/health/rates/11rates.asp REFERENCE 2 (bases 1 to 2276) AUTHORS Op de Beeck,K., Van Camp,G., Thys,S., Cools,N., Callebaut,I., Vrijens,K., Van Nassauw,L., Van Tendeloo,V.F., Timmermans,J.P. and Van Laer,L. TITLE The DFNA5 gene, responsible for hearing loss and involved in cancer, encodes a novel apoptosis-inducing protein JOURNAL Eur. J. Hum. Genet. 19 (9), 965-973 (2011) PUBMED 21522185 REMARK GeneRIF: DFNA5 is composed of two domains, separated by a hinge region. The first region induces apoptosis when transfected in HEK293T cells, the second region masks and probably regulates this apoptosis inducing capability REFERENCE 3 (bases 1 to 2276) AUTHORS Jin,Z., Cheng,J., Han,B., Li,H., Lu,Y., Li,Z. and Han,D. TITLE [Characteristics of audiology and clinical genetics of a Chinese family with the DFNA5 genetic hearing loss] JOURNAL Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 25 (9), 395-398 (2011) PUBMED 21805831 REMARK GeneRIF: A mutation in DFNA5 leads to a type of hearing loss that closely resembles the frequently observed age-related hearing impairment. REFERENCE 4 (bases 1 to 2276) AUTHORS Frank,B., Hoffmeister,M., Klopp,N., Illig,T., Chang-Claude,J. and Brenner,H. TITLE Single nucleotide polymorphisms in Wnt signaling and cell death pathway genes and susceptibility to colorectal cancer JOURNAL Carcinogenesis 31 (8), 1381-1386 (2010) PUBMED 20403915 REMARK GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 5 (bases 1 to 2276) AUTHORS Park,H.J., Cho,H.J., Baek,J.I., Ben-Yosef,T., Kwon,T.J., Griffith,A.J. and Kim,U.K. TITLE Evidence for a founder mutation causing DFNA5 hearing loss in East Asians JOURNAL J. Hum. Genet. 55 (1), 59-62 (2010) PUBMED 19911014 REMARK GeneRIF: A founder effect was demonstrated for the mutation of the DFNA5 gene casusing hearing loss in East Asians. REFERENCE 6 (bases 1 to 2276) AUTHORS Grottke,C., Mantwill,K., Dietel,M., Schadendorf,D. and Lage,H. TITLE Identification of differentially expressed genes in human melanoma cells with acquired resistance to various antineoplastic drugs JOURNAL Int. J. Cancer 88 (4), 535-546 (2000) PUBMED 11058868 REFERENCE 7 (bases 1 to 2276) AUTHORS Van Laer,L., Huizing,E.H., Verstreken,M., van Zuijlen,D., Wauters,J.G., Bossuyt,P.J., Van de Heyning,P., McGuirt,W.T., Smith,R.J., Willems,P.J., Legan,P.K., Richardson,G.P. and Van Camp,G. TITLE Nonsyndromic hearing impairment is associated with a mutation in DFNA5 JOURNAL Nat. Genet. 20 (2), 194-197 (1998) PUBMED 9771715 REFERENCE 8 (bases 1 to 2276) AUTHORS Thompson,D.A. and Weigel,R.J. TITLE Characterization of a gene that is inversely correlated with estrogen receptor expression (ICERE-1) in breast carcinomas JOURNAL Eur. J. Biochem. 252 (1), 169-177 (1998) PUBMED 9523727 REFERENCE 9 (bases 1 to 2276) AUTHORS Van Laer,L., Van Camp,G., van Zuijlen,D., Green,E.D., Verstreken,M., Schatteman,I., Van de Heyning,P., Balemans,W., Coucke,P., Greinwald,J.H., Smith,R.J., Huizing,E. and Willems,P. TITLE 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 JOURNAL Eur. J. Hum. Genet. 5 (6), 397-405 (1997) PUBMED 9450185 REFERENCE 10 (bases 1 to 2276) AUTHORS van Camp,G., Coucke,P., Balemans,W., van Velzen,D., van de Bilt,C., van Laer,L., Smith,R.J., Fukushima,K., Padberg,G.W., Frants,R.R. et al. TITLE Localization of a gene for non-syndromic hearing loss (DFNA5) to chromosome 7p15 JOURNAL Hum. Mol. Genet. 4 (11), 2159-2163 (1995) PUBMED 8589696 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DA820184.1, BC125065.1 and AF131765.1. Summary: 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. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode isoform a. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC099911.1, AK290775.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support ERS025081, ERS025082 [ECO:0000350] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-534 DA820184.1 1-534 535-1980 BC125065.1 502-1947 1981-2276 AF131765.1 1637-1932 FEATURES Location/Qualifiers source 1..2276 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="7" /map="7p15" gene 1..2276 /gene="DFNA5" /gene_synonym="ICERE-1" /note="deafness, autosomal dominant 5" /db_xref="GeneID:1687" /db_xref="HGNC:2810" /db_xref="MIM:608798" exon 1..69 /gene="DFNA5" /gene_synonym="ICERE-1" /inference="alignment:Splign:1.39.8" exon 70..299 /gene="DFNA5" /gene_synonym="ICERE-1" /inference="alignment:Splign:1.39.8" misc_feature 71..73 /gene="DFNA5" /gene_synonym="ICERE-1" /note="upstream in-frame stop codon" CDS 89..1579 /gene="DFNA5" /gene_synonym="ICERE-1" /note="isoform a is encoded by transcript variant 2; nonsyndromic hearing impairment protein; non-syndromic hearing impairment protein 5; inversely correlated with estrogen receptor expression 1" /codon_start=1 /product="non-syndromic hearing impairment protein 5 isoform a" /protein_id="NP_001120925.1" /db_xref="GI:188536092" /db_xref="CCDS:CCDS5389.1" /db_xref="GeneID:1687" /db_xref="HGNC:2810" /db_xref="MIM:608798" /translation="
MFAKATRNFLREVDADGDLIAVSNLNDSDKLQLLSLVTKKKRFWCWQRPKYQFLSLTLGDVLIEDQFPSPVVVESDFVKYEGKFANHVSGTLETALGKVKLNLGGSSRVESQSSFGTLRKQEVDLQQLIRDSAERTINLRNPVLQQVLEGRNEVLCVLTQKITTMQKCVISEHMQVEEKCGGIVGIQTKTVQVSATEDGNVTKDSNVVLEIPAATTIAYGVIELYVKLDGQFEFCLLRGKQGGFENKKRIDSVYLDPLVFREFAFIDMPDAAHGISSQDGPLSVLKQATLLLERNFHPFAELPEPQQTALSDIFQAVLFDDELLMVLEPVCDDLVSGLSPTVAVLGELKPRQQQDLVAFLQLVGCSLQGGCPGPEDAGSKQLFMTAYFLVSALAEMPDSAAALLGTCCKLQIIPTLCHLLRALSDDGVSDLEDPTLTPLKDTERFGIVQRLFASADISLERLKSSVKAVILKDSKVFPLLLCITLNGLCALGREHS
" misc_feature 89..1498 /gene="DFNA5" /gene_synonym="ICERE-1" /note="Gasdermin family; Region: Gasdermin; pfam04598" /db_xref="CDD:203052" exon 300..492 /gene="DFNA5" /gene_synonym="ICERE-1" /inference="alignment:Splign:1.39.8" exon 493..664 /gene="DFNA5" /gene_synonym="ICERE-1" /inference="alignment:Splign:1.39.8" variation 512 /gene="DFNA5" /gene_synonym="ICERE-1" /replace="a" /replace="c" /db_xref="dbSNP:754554" variation 534..535 /gene="DFNA5" /gene_synonym="ICERE-1" /replace="a" /replace="g" /db_xref="dbSNP:78941420" variation 535 /gene="DFNA5" /gene_synonym="ICERE-1" /replace="a" /replace="g" /db_xref="dbSNP:876305" variation 577 /gene="DFNA5" /gene_synonym="ICERE-1" /replace="a" /replace="g" /db_xref="dbSNP:754555" variation 609 /gene="DFNA5" /gene_synonym="ICERE-1" /replace="c" /replace="t" /db_xref="dbSNP:876306" exon 665..785 /gene="DFNA5" /gene_synonym="ICERE-1" /inference="alignment:Splign:1.39.8" exon 786..950 /gene="DFNA5" /gene_synonym="ICERE-1" /inference="alignment:Splign:1.39.8" exon 951..1078 /gene="DFNA5" /gene_synonym="ICERE-1" /inference="alignment:Splign:1.39.8" exon 1079..1271 /gene="DFNA5" /gene_synonym="ICERE-1" /inference="alignment:Splign:1.39.8" exon 1272..1345 /gene="DFNA5" /gene_synonym="ICERE-1" /inference="alignment:Splign:1.39.8" exon 1346..2250 /gene="DFNA5" /gene_synonym="ICERE-1" /inference="alignment:Splign:1.39.8" STS 1955..2126 /gene="DFNA5" /gene_synonym="ICERE-1" /standard_name="RH78503" /db_xref="UniSTS:29408" STS 2043..2154 /gene="DFNA5" /gene_synonym="ICERE-1" /standard_name="A004M17" /db_xref="UniSTS:56855" variation 2060 /gene="DFNA5" /gene_synonym="ICERE-1" /replace="c" /replace="g" /db_xref="dbSNP:12979" STS 2119..2221 /gene="DFNA5" /gene_synonym="ICERE-1" /standard_name="SHGC-36617" /db_xref="UniSTS:31290" ORIGIN
agcgcaggctcctccgactccgccagcgcagggggcgcggctgccggggacccagcagcgggcgcgcggataatctggagctttcaaaatgtttgccaaagcaaccaggaattttcttagagaagttgatgctgatggtgacctgattgcagtatcaaatctgaatgactctgataagttacagcttctaagtctggtgacaaaaaagaagagattctggtgctggcagagacccaagtaccagtttttatccctcacccttggcgatgtactcatagaagaccaatttccgagtccagtggtcgtggagtcggactttgtgaaatacgagggcaagtttgcaaaccacgtgagtggaaccctggagactgcactggggaaggtcaagctgaacctggggggcagcagccgcgtagagagccagtcttcatttggaaccctgaggaagcaggaggtggatttgcagcagctcatcagagactctgccgagagaacaataaatctgagaaaccctgtgctccagcaggtgctggaaggaaggaatgaggtcctgtgcgttttgacacagaagatcacgacgatgcagaagtgtgtgatctctgagcacatgcaggtcgaggagaagtgtggtggcatcgtgggcatccagaccaagacggtgcaggtgtcagcgacggaggatgggaatgtcaccaaggactccaacgtggtgctggagatcccagctgccaccaccattgcctacggtgtcattgagttatacgtgaaactggacggccagttcgagttctgccttctccgagggaagcaaggtggcttcgagaacaagaagagaattgactctgtctacctggaccccctggtctttcgagagtttgcattcatagacatgccagatgctgcgcatgggatatcttcccaggatggaccattaagtgttttaaagcaagcgaccctgctcctggagaggaatttccatccatttgcggagctgcctgagccacaacagacagctttgagtgacatcttccaggcggtcctatttgatgatgaactactcatggtcctggaaccagtgtgcgatgacctggtcagcggcctctcgcccacagtggcggtgctgggggagctgaagccccggcagcagcaggaccttgtggccttcctgcagctggtggggtgcagcttacagggtgggtgtccgggccccgaggatgcaggcagcaagcagctgtttatgacagcctacttcttggtcagtgccctcgcagaaatgccagatagcgcagcagctctgctgggcacttgctgcaaactccagatcattcccacactgtgccacttgcttcgtgctctgtctgatgatggagtatctgatcttgaagacccaaccttgactcccctgaaagatacagaaaggtttgggattgtgcagcgcttgtttgcctcagctgacattagtctggagagactgaagtcatctgtgaaagctgtcattctgaaggactctaaagtcttcccactgcttctttgtataaccctgaatggactctgtgctttaggcagagaacattcatgatgtcatatgtgaactagaagtacgtgttactggccaaggctatttttcagaactgttaaaggtcatatgcacgttaaaagttgaccaatgaaatgaatttacagaacagtttaagaagtggtgacattttgcatgatgaatgacctgacttttagccaccaggtactctttaaacagttttccttatcagaggccctcctgtgctggtgacccagcatctgagttaggttccagcatgtaaagagctgggagggcggagaattcttagcatacattcagacgttttttctgcacaataataagtccatctgtcacttgcattccactttttgttacatagaaagagtctgaccctttaatccaaaaggtctttttacattgtgaatgctgtgggaaggcaatttctctgcacacaagaggctacgttttggaagtgatgtatgttatttgatgactgaaaatgaactgtaaatgctcctagagtatattcctctgctgaacaaaattaaacttcaaaaaaatctaacagtaacacacccctgcttgggaccctagctatatgcattttatgtgaccttgccatgcttcagtgaacatactaattctatgtctagcacatgttgatttcctatgtattctgggtattctattaaaggaaactttgaactatgaaaaaaaaaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:1687 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA GeneID:1687 -> Biological process: GO:0007605 [sensory perception of sound] evidence: TAS GeneID:1687 -> Biological process: GO:0008285 [negative regulation of cell proliferation] evidence: IDA GeneID:1687 -> Biological process: GO:0060113 [inner ear receptor cell differentiation] evidence: IEA GeneID:1687 -> Biological process: GO:2001244 [positive regulation of intrinsic apoptotic signaling pathway] evidence: IDA GeneID:1687 -> Cellular component: GO:0005737 [cytoplasm] evidence: IDA
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