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2024-04-25 00:55:11, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_004403 2521 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens deafness, autosomal dominant 5 (DFNA5), transcript
variant 1, mRNA.
ACCESSION NM_004403
VERSION NM_004403.2 GI:116734721
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 2521)
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 2521)
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 2521)
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 2521)
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 2521)
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 2521)
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 2521)
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 2521)
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 2521)
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 2521)
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 AC003093.1, AF073308.1,
BC125065.1 and AF131765.1.
This sequence is a reference standard in the RefSeqGene project.
On Oct 26, 2006 this sequence version replaced gi:4758153.
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 (1) represents the longest
transcript and encodes the longer isoform (a). 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 :: AF073308.1, BC125065.1 [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
1-276 AC003093.1 64187-64462 c
277-1532 AF073308.1 1-1256
1533-2225 BC125065.1 1255-1947
2226-2521 AF131765.1 1637-1932
FEATURES Location/Qualifiers
source 1..2521
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="7"
/map="7p15"
gene 1..2521
/gene="DFNA5"
/gene_synonym="ICERE-1"
/note="deafness, autosomal dominant 5"
/db_xref="GeneID:1687"
/db_xref="HGNC:2810"
/db_xref="HPRD:02996"
/db_xref="MIM:608798"
exon 1..314
/gene="DFNA5"
/gene_synonym="ICERE-1"
/inference="alignment:Splign:1.39.8"
exon 315..544
/gene="DFNA5"
/gene_synonym="ICERE-1"
/inference="alignment:Splign:1.39.8"
misc_feature 316..318
/gene="DFNA5"
/gene_synonym="ICERE-1"
/note="upstream in-frame stop codon"
CDS 334..1824
/gene="DFNA5"
/gene_synonym="ICERE-1"
/note="isoform a is encoded by transcript variant 1;
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_004394.1"
/db_xref="GI:4758154"
/db_xref="CCDS:CCDS5389.1"
/db_xref="GeneID:1687"
/db_xref="HGNC:2810"
/db_xref="HPRD:02996"
/db_xref="MIM:608798"
/translation="
MFAKATRNFLREVDADGDLIAVSNLNDSDKLQLLSLVTKKKRFWCWQRPKYQFLSLTLGDVLIEDQFPSPVVVESDFVKYEGKFANHVSGTLETALGKVKLNLGGSSRVESQSSFGTLRKQEVDLQQLIRDSAERTINLRNPVLQQVLEGRNEVLCVLTQKITTMQKCVISEHMQVEEKCGGIVGIQTKTVQVSATEDGNVTKDSNVVLEIPAATTIAYGVIELYVKLDGQFEFCLLRGKQGGFENKKRIDSVYLDPLVFREFAFIDMPDAAHGISSQDGPLSVLKQATLLLERNFHPFAELPEPQQTALSDIFQAVLFDDELLMVLEPVCDDLVSGLSPTVAVLGELKPRQQQDLVAFLQLVGCSLQGGCPGPEDAGSKQLFMTAYFLVSALAEMPDSAAALLGTCCKLQIIPTLCHLLRALSDDGVSDLEDPTLTPLKDTERFGIVQRLFASADISLERLKSSVKAVILKDSKVFPLLLCITLNGLCALGREHS
"
misc_feature 334..1743
/gene="DFNA5"
/gene_synonym="ICERE-1"
/note="Gasdermin family; Region: Gasdermin; pfam04598"
/db_xref="CDD:203052"
exon 545..737
/gene="DFNA5"
/gene_synonym="ICERE-1"
/inference="alignment:Splign:1.39.8"
exon 738..909
/gene="DFNA5"
/gene_synonym="ICERE-1"
/inference="alignment:Splign:1.39.8"
variation 757
/gene="DFNA5"
/gene_synonym="ICERE-1"
/replace="a"
/replace="c"
/db_xref="dbSNP:754554"
variation 779..780
/gene="DFNA5"
/gene_synonym="ICERE-1"
/replace="a"
/replace="g"
/db_xref="dbSNP:78941420"
variation 780
/gene="DFNA5"
/gene_synonym="ICERE-1"
/replace="a"
/replace="g"
/db_xref="dbSNP:876305"
variation 822
/gene="DFNA5"
/gene_synonym="ICERE-1"
/replace="a"
/replace="g"
/db_xref="dbSNP:754555"
variation 854
/gene="DFNA5"
/gene_synonym="ICERE-1"
/replace="c"
/replace="t"
/db_xref="dbSNP:876306"
exon 910..1030
/gene="DFNA5"
/gene_synonym="ICERE-1"
/inference="alignment:Splign:1.39.8"
exon 1031..1195
/gene="DFNA5"
/gene_synonym="ICERE-1"
/inference="alignment:Splign:1.39.8"
exon 1196..1323
/gene="DFNA5"
/gene_synonym="ICERE-1"
/inference="alignment:Splign:1.39.8"
exon 1324..1516
/gene="DFNA5"
/gene_synonym="ICERE-1"
/inference="alignment:Splign:1.39.8"
exon 1517..1590
/gene="DFNA5"
/gene_synonym="ICERE-1"
/inference="alignment:Splign:1.39.8"
exon 1591..2495
/gene="DFNA5"
/gene_synonym="ICERE-1"
/inference="alignment:Splign:1.39.8"
STS 2200..2371
/gene="DFNA5"
/gene_synonym="ICERE-1"
/standard_name="RH78503"
/db_xref="UniSTS:29408"
STS 2288..2399
/gene="DFNA5"
/gene_synonym="ICERE-1"
/standard_name="A004M17"
/db_xref="UniSTS:56855"
variation 2305
/gene="DFNA5"
/gene_synonym="ICERE-1"
/replace="c"
/replace="g"
/db_xref="dbSNP:12979"
STS 2364..2466
/gene="DFNA5"
/gene_synonym="ICERE-1"
/standard_name="SHGC-36617"
/db_xref="UniSTS:31290"
polyA_signal 2473..2478
/gene="DFNA5"
/gene_synonym="ICERE-1"
polyA_site 2495
/gene="DFNA5"
/gene_synonym="ICERE-1"
ORIGIN
aggagcttagagtggagtttacaggaatgaatcactgattagcggcaggcctaagtgtgggcactgtcgcaccacacacccagatactactccaggcacgggcattaggggctcccacaggctggacaggccttggactttcctggttgaaccgtgaggccgcggtgtcagtccacactccactgtgggtggcgggttcggccccgcgaggaggcgccgctctcaaaccccacggtcccgcgcagcgaagaggcgaggcggccgcggaaggcaggcgcagcccactcttcccgagaggccccgacatctcccggataatctggagctttcaaaatgtttgccaaagcaaccaggaattttcttagagaagttgatgctgatggtgacctgattgcagtatcaaatctgaatgactctgataagttacagcttctaagtctggtgacaaaaaagaagagattctggtgctggcagagacccaagtaccagtttttatccctcacccttggcgatgtactcatagaagaccaatttccgagtccagtggtcgtggagtcggactttgtgaaatacgagggcaagtttgcaaaccacgtgagtggaaccctggagactgcactggggaaggtcaagctgaacctggggggcagcagccgcgtagagagccagtcttcatttggaaccctgaggaagcaggaggtggatttgcagcagctcatcagagactctgccgagagaacaataaatctgagaaaccctgtgctccagcaggtgctggaaggaaggaatgaggtcctgtgcgttttgacacagaagatcacgacgatgcagaagtgtgtgatctctgagcacatgcaggtcgaggagaagtgtggtggcatcgtgggcatccagaccaagacggtgcaggtgtcagcgacggaggatgggaatgtcaccaaggactccaacgtggtgctggagatcccagctgccaccaccattgcctacggtgtcattgagttatacgtgaaactggacggccagttcgagttctgccttctccgagggaagcaaggtggcttcgagaacaagaagagaattgactctgtctacctggaccccctggtctttcgagagtttgcattcatagacatgccagatgctgcgcatgggatatcttcccaggatggaccattaagtgttttaaagcaagcgaccctgctcctggagaggaatttccatccatttgcggagctgcctgagccacaacagacagctttgagtgacatcttccaggcggtcctatttgatgatgaactactcatggtcctggaaccagtgtgcgatgacctggtcagcggcctctcgcccacagtggcggtgctgggggagctgaagccccggcagcagcaggaccttgtggccttcctgcagctggtggggtgcagcttacagggtgggtgtccgggccccgaggatgcaggcagcaagcagctgtttatgacagcctacttcttggtcagtgccctcgcagaaatgccagatagcgcagcagctctgctgggcacttgctgcaaactccagatcattcccacactgtgccacttgcttcgtgctctgtctgatgatggagtatctgatcttgaagacccaaccttgactcccctgaaagatacagaaaggtttgggattgtgcagcgcttgtttgcctcagctgacattagtctggagagactgaagtcatctgtgaaagctgtcattctgaaggactctaaagtcttcccactgcttctttgtataaccctgaatggactctgtgctttaggcagagaacattcatgatgtcatatgtgaactagaagtacgtgttactggccaaggctatttttcagaactgttaaaggtcatatgcacgttaaaagttgaccaatgaaatgaatttacagaacagtttaagaagtggtgacattttgcatgatgaatgacctgacttttagccaccaggtactctttaaacagttttccttatcagaggccctcctgtgctggtgacccagcatctgagttaggttccagcatgtaaagagctgggagggcggagaattcttagcatacattcagacgttttttctgcacaataataagtccatctgtcacttgcattccactttttgttacatagaaagagtctgaccctttaatccaaaaggtctttttacattgtgaatgctgtgggaaggcaatttctctgcacacaagaggctacgttttggaagtgatgtatgttatttgatgactgaaaatgaactgtaaatgctcctagagtatattcctctgctgaacaaaattaaacttcaaaaaaatctaacagtaacacacccctgcttgggaccctagctatatgcattttatgtgaccttgccatgcttcagtgaacatactaattctatgtctagcacatgttgatttcctatgtattctgggtattctattaaaggaaactttgaactatgaaaaaaaaaaaaaaaaaaaaaaaaaa
//
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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