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2024-04-19 19:06:19, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001127454 2291 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens deafness, autosomal dominant 5 (DFNA5), transcript
variant 3, mRNA.
ACCESSION NM_001127454
VERSION NM_001127454.1 GI:188536093
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 2291)
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 2291)
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 2291)
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 2291)
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 2291)
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 2291)
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 2291)
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 2291)
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 2291)
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 2291)
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 DA908548.1, DA197867.1,
BC125066.1, 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 (3) lacks an alternate exon
compared to variant 1, resulting in an isoform (b) that uses a
downstream start site compared to 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 :: BC125066.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025088 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-172 DA908548.1 2-173
173-278 DA197867.1 140-245
279-549 BC125066.1 1-271
550-1995 BC125065.1 502-1947
1996-2291 AF131765.1 1637-1932
FEATURES Location/Qualifiers
source 1..2291
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="7"
/map="7p15"
gene 1..2291
/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..314
/gene="DFNA5"
/gene_synonym="ICERE-1"
/inference="alignment:Splign:1.39.8"
misc_feature 155..157
/gene="DFNA5"
/gene_synonym="ICERE-1"
/note="upstream in-frame stop codon"
exon 315..507
/gene="DFNA5"
/gene_synonym="ICERE-1"
/inference="alignment:Splign:1.39.8"
exon 508..679
/gene="DFNA5"
/gene_synonym="ICERE-1"
/inference="alignment:Splign:1.39.8"
variation 527
/gene="DFNA5"
/gene_synonym="ICERE-1"
/replace="a"
/replace="c"
/db_xref="dbSNP:754554"
variation 549..550
/gene="DFNA5"
/gene_synonym="ICERE-1"
/replace="a"
/replace="g"
/db_xref="dbSNP:78941420"
variation 550
/gene="DFNA5"
/gene_synonym="ICERE-1"
/replace="a"
/replace="g"
/db_xref="dbSNP:876305"
variation 592
/gene="DFNA5"
/gene_synonym="ICERE-1"
/replace="a"
/replace="g"
/db_xref="dbSNP:754555"
CDS 596..1594
/gene="DFNA5"
/gene_synonym="ICERE-1"
/note="isoform b is encoded by transcript variant 3;
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 b"
/protein_id="NP_001120926.1"
/db_xref="GI:188536094"
/db_xref="CCDS:CCDS47563.1"
/db_xref="GeneID:1687"
/db_xref="HGNC:2810"
/db_xref="MIM:608798"
/translation="
MQKCVISEHMQVEEKCGGIVGIQTKTVQVSATEDGNVTKDSNVVLEIPAATTIAYGVIELYVKLDGQFEFCLLRGKQGGFENKKRIDSVYLDPLVFREFAFIDMPDAAHGISSQDGPLSVLKQATLLLERNFHPFAELPEPQQTALSDIFQAVLFDDELLMVLEPVCDDLVSGLSPTVAVLGELKPRQQQDLVAFLQLVGCSLQGGCPGPEDAGSKQLFMTAYFLVSALAEMPDSAAALLGTCCKLQIIPTLCHLLRALSDDGVSDLEDPTLTPLKDTERFGIVQRLFASADISLERLKSSVKAVILKDSKVFPLLLCITLNGLCALGREHS
"
misc_feature <596..1513
/gene="DFNA5"
/gene_synonym="ICERE-1"
/note="Gasdermin family; Region: Gasdermin; pfam04598"
/db_xref="CDD:203052"
variation 624
/gene="DFNA5"
/gene_synonym="ICERE-1"
/replace="c"
/replace="t"
/db_xref="dbSNP:876306"
exon 680..800
/gene="DFNA5"
/gene_synonym="ICERE-1"
/inference="alignment:Splign:1.39.8"
exon 801..965
/gene="DFNA5"
/gene_synonym="ICERE-1"
/inference="alignment:Splign:1.39.8"
exon 966..1093
/gene="DFNA5"
/gene_synonym="ICERE-1"
/inference="alignment:Splign:1.39.8"
exon 1094..1286
/gene="DFNA5"
/gene_synonym="ICERE-1"
/inference="alignment:Splign:1.39.8"
exon 1287..1360
/gene="DFNA5"
/gene_synonym="ICERE-1"
/inference="alignment:Splign:1.39.8"
exon 1361..2265
/gene="DFNA5"
/gene_synonym="ICERE-1"
/inference="alignment:Splign:1.39.8"
STS 1970..2141
/gene="DFNA5"
/gene_synonym="ICERE-1"
/standard_name="RH78503"
/db_xref="UniSTS:29408"
STS 2058..2169
/gene="DFNA5"
/gene_synonym="ICERE-1"
/standard_name="A004M17"
/db_xref="UniSTS:56855"
variation 2075
/gene="DFNA5"
/gene_synonym="ICERE-1"
/replace="c"
/replace="g"
/db_xref="dbSNP:12979"
STS 2134..2236
/gene="DFNA5"
/gene_synonym="ICERE-1"
/standard_name="SHGC-36617"
/db_xref="UniSTS:31290"
ORIGIN
aggagcttagagtggagtttacaggaatgaatcactgattagcggcaggcctaagtgtgggcactgtcgcaccacacacccagatactactccaggcacgggcattaggggctcccacaggctggacaggccttggactttcctggttgaaccgtgaggccgcggtgtcagtccacactccactgtgggtggcgggttcggccccgcgaggaggcgccgctctcaaaccccacggtcccgcgcagcgaagaggcgaggcggccgcggaaggcaggcgcagcccactcttcccgagaggccccgacatctcccggtggtcgtggagtcggactttgtgaaatacgagggcaagtttgcaaaccacgtgagtggaaccctggagactgcactggggaaggtcaagctgaacctggggggcagcagccgcgtagagagccagtcttcatttggaaccctgaggaagcaggaggtggatttgcagcagctcatcagagactctgccgagagaacaataaatctgagaaaccctgtgctccagcaggtgctggaaggaaggaatgaggtcctgtgcgttttgacacagaagatcacgacgatgcagaagtgtgtgatctctgagcacatgcaggtcgaggagaagtgtggtggcatcgtgggcatccagaccaagacggtgcaggtgtcagcgacggaggatgggaatgtcaccaaggactccaacgtggtgctggagatcccagctgccaccaccattgcctacggtgtcattgagttatacgtgaaactggacggccagttcgagttctgccttctccgagggaagcaaggtggcttcgagaacaagaagagaattgactctgtctacctggaccccctggtctttcgagagtttgcattcatagacatgccagatgctgcgcatgggatatcttcccaggatggaccattaagtgttttaaagcaagcgaccctgctcctggagaggaatttccatccatttgcggagctgcctgagccacaacagacagctttgagtgacatcttccaggcggtcctatttgatgatgaactactcatggtcctggaaccagtgtgcgatgacctggtcagcggcctctcgcccacagtggcggtgctgggggagctgaagccccggcagcagcaggaccttgtggccttcctgcagctggtggggtgcagcttacagggtgggtgtccgggccccgaggatgcaggcagcaagcagctgtttatgacagcctacttcttggtcagtgccctcgcagaaatgccagatagcgcagcagctctgctgggcacttgctgcaaactccagatcattcccacactgtgccacttgcttcgtgctctgtctgatgatggagtatctgatcttgaagacccaaccttgactcccctgaaagatacagaaaggtttgggattgtgcagcgcttgtttgcctcagctgacattagtctggagagactgaagtcatctgtgaaagctgtcattctgaaggactctaaagtcttcccactgcttctttgtataaccctgaatggactctgtgctttaggcagagaacattcatgatgtcatatgtgaactagaagtacgtgttactggccaaggctatttttcagaactgttaaaggtcatatgcacgttaaaagttgaccaatgaaatgaatttacagaacagtttaagaagtggtgacattttgcatgatgaatgacctgacttttagccaccaggtactctttaaacagttttccttatcagaggccctcctgtgctggtgacccagcatctgagttaggttccagcatgtaaagagctgggagggcggagaattcttagcatacattcagacgttttttctgcacaataataagtccatctgtcacttgcattccactttttgttacatagaaagagtctgaccctttaatccaaaaggtctttttacattgtgaatgctgtgggaaggcaatttctctgcacacaagaggctacgttttggaagtgatgtatgttatttgatgactgaaaatgaactgtaaatgctcctagagtatattcctctgctgaacaaaattaaacttcaaaaaaatctaacagtaacacacccctgcttgggaccctagctatatgcattttatgtgaccttgccatgcttcagtgaacatactaattctatgtctagcacatgttgatttcctatgtattctgggtattctattaaaggaaactttgaactatgaaaaaaaaaaaaaaaaaaaaaaaaaa
//
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
by
@meso_cacase at
DBCLS
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