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Homo sapiens cochlin (COCH), transcript variant 1, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001135058 Homo sapiens cochlin (COCH), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $699.00 18

*Business Day

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RefSeq Version NM_001135058.1, 205277470
Length 2882 bp
Structure linear
Update Date 25-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens cochlin (COCH), transcript variant 1, mRNA.
Product cochlin precursor
Comment

Summary: The protein encoded by this gene is highly conserved in human, mouse, and chicken, showing 94% and 79% amino acid identity of human to mouse and chicken sequences, respectively. Hybridization to this gene was detected in spindle-shaped cells located along nerve fibers between the auditory ganglion and sensory epithelium. These cells accompany neurites at the habenula perforata, the opening through which neurites extend to innervate hair cells. This and the pattern of expression of this gene in chicken inner ear paralleled the histologic findings of acidophilic deposits, consistent with mucopolysaccharide ground substance, in temporal bones from DFNA9 (autosomal dominant nonsyndromic sensorineural deafness 9) patients. Mutations that cause DFNA9 have been reported in this gene. Alternative splicing results in multiple transcript variants encoding the same protein. Additional splice variants encoding distinct isoforms have been described but their biological validities have not been demonstrated. [provided by RefSeq, Oct 2008].


Transcript Variant: This variant (1) represents the longer variant. Variants 1 and 2 encode the same protein.

RefSeq NP_001128530.1
CDS 405..2057
Misc Feature(1)327..329
Misc Feature(2)492..740
Misc Feature(3)894..1388
Misc Feature(4)order(915..917,921..923,927..929,1128..1130,1227..1229)
Misc Feature(5)order(921..929,933..935,1128..1130)
Misc Feature(6)1500..1985
Misc Feature(7)order(1521..1523,1527..1529,1533..1535,1734..1736,
Misc Feature(8)order(1527..1535,1539..1541,1734..1736)
Misc Feature(9)order(1617..1619,1662..1667,1698..1703,1707..1712)
Exon (1)1..438
Gene:COCH
Gene Synonym:COCH-5B2; COCH5B2; DFNA9
Exon (2)439..486
Gene:COCH
Gene Synonym:COCH-5B2; COCH5B2; DFNA9
Exon (3)487..643
Gene:COCH
Gene Synonym:COCH-5B2; COCH5B2; DFNA9
Exon (4)644..777
Gene:COCH
Gene Synonym:COCH-5B2; COCH5B2; DFNA9
Exon (5)778..840
Gene:COCH
Gene Synonym:COCH-5B2; COCH5B2; DFNA9
Exon (6)841..885
Gene:COCH
Gene Synonym:COCH-5B2; COCH5B2; DFNA9
Exon (7)886..1033
Gene:COCH
Gene Synonym:COCH-5B2; COCH5B2; DFNA9
Exon (8)1034..1137
Gene:COCH
Gene Synonym:COCH-5B2; COCH5B2; DFNA9
Exon (9)1138..1364
Gene:COCH
Gene Synonym:COCH-5B2; COCH5B2; DFNA9
Exon (10)1365..1881
Gene:COCH
Gene Synonym:COCH-5B2; COCH5B2; DFNA9
Exon (11)1882..2882
Gene:COCH
Gene Synonym:COCH-5B2; COCH5B2; DFNA9
Translation MSAAWIPALGLGVCLLLLPGPAGSEGAAPIAITCFTRGLDIRKEKADVLCPGGCPLEEFS VYGNIVYASVSSICGAAVHRGVISNSGGPVRVYSLPGRENYSSVDANGIQSQMLSRWSAS FTVTKGKSSTQEATGQAVSTAHPPTGKRLKKTPEKKTGNKDCKADIAFLIDGSFNIGQRR FNLQKNFVGKVALMLGIGTEGPHVGLVQASEHPKIEFYLKNFTSAKDVLFAIKEVGFRGG NSNTGKALKHTAQKFFTVDAGVRKGIPKVVVVFIDGWPSDDIEEAGIVAREFGVNVFIVS VAKPIPEELGMVQDVTFVDKAVCRNNGFFSYHMPNWFGTTKYVKPLVQKLCTHEQMMCSK TCYNSVNIAFLIDGSSSVGDSNFRLMLEFVSNIAKTFEISDIGAKIAAVQFTYDQRTEFS FTDYSTKENVLAVIRNIRYMSGGTATGDAISFTVRNVFGPIRESPNKNFLVIVTDGQSYD DVQGPAAAAHDAGITIFSVGVAWAPLDDLKDMASKPKESHAFFTREFTGLEPIVSDVIRG ICRDFLESQQ
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Position Chain Variation Link
210+dbSNP:
210+g, tdbSNP:28400022
274+a, tdbSNP:141450555
299+a, gdbSNP:11555426
308+, gdbSNP:34495891
331+a, gdbSNP:78284050
362+a, gdbSNP:374605538
395+a, gdbSNP:200113981
424+c, tdbSNP:201427920
426+a, gdbSNP:200935305
449+dbSNP:
449+g, tdbSNP:375459510
455+a, gdbSNP:368400670
460+c, tdbSNP:200522736
477+a, gdbSNP:371802597
484+a, cdbSNP:113782841
512+dbSNP:
512+c, tdbSNP:372237012
522+a, gdbSNP:143098658
530+c, gdbSNP:146115619
545+c, tdbSNP:199674735
555+c, tdbSNP:28938175
597+a, gdbSNP:148102471
601+g, tdbSNP:121908927
602+a, tdbSNP:28400029
617+a, gdbSNP:200899172
628+a, gdbSNP:369827155
667+dbSNP:
667+a, gdbSNP:121908928
670+a, cdbSNP:149903169
676+a, gdbSNP:188283330
692+c, tdbSNP:144952367
730+a, tdbSNP:121908930
753+c, tdbSNP:121908929
759+a, gdbSNP:121908931
782+dbSNP:
782+c, tdbSNP:148599620
807+a, gdbSNP:28400035
828+c, tdbSNP:142073417
833+a, gdbSNP:147841606
854..855+dbSNP:
854..855+, gdbSNP:34622961
943+dbSNP:
943+a, gdbSNP:369882771
959+a, gdbSNP:146395267
975+a, gdbSNP:141421714
1014+a, gdbSNP:200549732
1073+dbSNP:
1073+a, gdbSNP:370307569
1085+c, tdbSNP:147017172
1098+a, gdbSNP:201294938
1109+a, gdbSNP:372549728
1121+a, gdbSNP:200392534
1148+dbSNP:
1148+a, gdbSNP:370194438
1190+a, gdbSNP:375612298
complement(1216)-t, gdbSNP:77074957
1218+a, gdbSNP:186875564
1245+a, gdbSNP:28362775
1250+c, tdbSNP:368609319
1313+a, gdbSNP:150207791
1322+g, tdbSNP:138805494
1331+a, gdbSNP:149342451
1399+dbSNP:
1399+a, gdbSNP:376820760
1413+c, tdbSNP:370525728
1430+a, gdbSNP:386574591
1430+c, tdbSNP:28362777
1454+a, gdbSNP:138248389
1459+c, gdbSNP:1045644
1459+c, gdbSNP:386430479
1487+c, gdbSNP:371011287
1496..1497+, cdbSNP:36109457
1507+a, tdbSNP:375542487
1532+c, tdbSNP:146166304
1537+c, tdbSNP:370382942
1539+a, gdbSNP:267603975
1556+c, tdbSNP:140108742
1571+c, tdbSNP:77370101
1588+a, gdbSNP:200904881
1604+a, gdbSNP:150529026
1608+a, gdbSNP:28362778
1625+c, tdbSNP:199608109
1650+c, tdbSNP:367884240
1673+a, gdbSNP:35353967
1674+g, tdbSNP:61759484
1734+a, gdbSNP:371248806
1752+a, gdbSNP:139503327
1780+a, gdbSNP:371099832
1912+g, tdbSNP:200252533
1917+a, cdbSNP:201578645
1939+c, tdbSNP:121908934
1957+a, gdbSNP:17097468
1978+g, tdbSNP:147643069
1995+c, gdbSNP:149072811
1998+c, tdbSNP:1801963
2029+a, g, tdbSNP:121908932
2032+a, gdbSNP:143142304
2084+a, tdbSNP:13122
2084+a, tdbSNP:386527081
2171+c, tdbSNP:375692052
2241+c, tdbSNP:368151461
2294+c, gdbSNP:190142757
2302+a, gdbSNP:45624239
2309+c, tdbSNP:372169208
2329+a, gdbSNP:375156330
2342+c, gdbSNP:369400127
2396+c, tdbSNP:187461561
2464+c, tdbSNP:7152503
2541..2543+, aatdbSNP:10610193
2545..2547+, atadbSNP:61035395
2640+c, tdbSNP:77851565
2647+a, gdbSNP:371554692
2657+a, gdbSNP:374727844
2682+c, tdbSNP:143467211
2723+c, tdbSNP:56229109
2768..2772+, gtaaadbSNP:10562264
2770..2771+, actttdbSNP:200244885
2771..2775+, aagtadbSNP:72262576
Gene SymbolCOCH
Gene SynonymCOCH-5B2; COCH5B2; DFNA9
Chromosome14
Locus Map14q11.2-q13
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_004086 Homo sapiens cochlin (COCH), transcript variant 2, mRNA. On-demand $699.00 18
NM_001135058 Homo sapiens cochlin (COCH), transcript variant 1, mRNA. On-demand $699.00 18
XM_006720073 PREDICTED: Homo sapiens cochlin (COCH), transcript variant X1, mRNA. On-demand $699.00 18
Title Clinical characterization of a novel COCH mutation G87V in a Chinese DFNA9 family .
Author Chen DY, Chai YC, Yang T and Wu H.
Journal Int. J. Pediatr. Otorhinolaryngol. 77 (10), 1711-1715 (2013)
Title RNA analysis of inner ear cells from formalin fixed paraffin embedded (FFPE) archival human temporal bone section using laser microdissection--a technical report .
Author Kimura Y, Kubo S, Koda H, Shigemoto K, Sawabe M and Kitamura K.
Journal Hear. Res. 302, 26-31 (2013)
Title Whole exome sequencing identifies a novel DFNA9 mutation, C162Y .
Author Gao J, Xue J, Chen L, Ke X, Qi Y and Liu Y.
Journal Clin. Genet. 83 (5), 477-481 (2013)
Title Analysis of COCH and TNFA variants in East Indian primary open-angle glaucoma patients .
Author Chakraborty S, Mookherjee S, Sen A and Ray K.
Journal Biomed Res Int 2013, 937870 (2013)
Title A novel COCH mutation associated with autosomal dominant nonsyndromic hearing loss disrupts the structural stability of the vWFA2 domain .
Author Cho HJ, Park HJ, Trexler M, Venselaar H, Lee KY, Robertson NG, Baek JI, Kang BS, Morton CC, Vriend G, Patthy L and Kim UK.
Journal J. Mol. Med. 90 (11), 1321-1331 (2012)
Title A gene for non-syndromic autosomal dominant progressive postlingual sensorineural hearing loss maps to chromosome 14q12-13 .
Author Manolis EN, Yandavi N, Nadol JB Jr, Eavey RD, McKenna M, Rosenbaum S, Khetarpal U, Halpin C, Merchant SN, Duyk GM, MacRae C, Seidman
Journal Hum. Mol. Genet. 5 (7), 1047-1050 (1996)
Title Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening .
Author Robertson NG, Khetarpal U, Gutierrez-Espeleta GA, Bieber FR and Morton CC.
Journal Genomics 23 (1), 42-50 (1994)
Title Autosomal dominant sensorineural hearing loss. Further temporal bone findings .
Author Khetarpal U.
Journal Arch. Otolaryngol. Head Neck Surg. 119 (1), 106-108 (1993)
Title Deafness and Hereditary Hearing Loss Overview .
Author Smith,R.J.H., Shearer,A.E., Hildebrand,M.S. and Van Camp,G.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title Autosomal dominant sensorineural hearing loss. Pedigrees, audiologic findings, and temporal bone findings in two kindreds .
Author Khetarpal U, Schuknecht HF, Gacek RR and Holmes LB.
Journal Arch. Otolaryngol. Head Neck Surg. 117 (9), 1032-1042 (1991)

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