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Homo sapiens coagulation factor C homolog, cochlin (Limulus polyphemus) (COCH), transcript variant 1, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001135058 Homo sapiens coagulation factor C homolog, cochlin (Limulus polyphemus) (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 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens coagulation factor C homolog, cochlin (Limulus polyphemus) (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
66+dbSNP:
66+, cdbSNP:66506469
210+g, tdbSNP:28400022
274+a, tdbSNP:141450555
299+a, gdbSNP:11555426
306+, gdbSNP:34495891
331+a, gdbSNP:78284050
395+a, gdbSNP:200113981
424+c, tdbSNP:201427920
426+a, gdbSNP:200935305
460+dbSNP:
460+c, tdbSNP:200522736
484+a, cdbSNP:113782841
522+dbSNP:
522+a, gdbSNP:143098658
530+c, gdbSNP:146115619
545+c, tdbSNP:199674735
555+c, tdbSNP:28938175
557+a, cdbSNP:140155551
597+a, gdbSNP:148102471
601+g, tdbSNP:121908927
602+a, tdbSNP:28400029
617+a, gdbSNP:200899172
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
959+dbSNP:
959+a, gdbSNP:146395267
975+a, gdbSNP:141421714
1014+a, gdbSNP:200549732
1085+dbSNP:
1085+c, tdbSNP:147017172
1098+a, gdbSNP:201294938
1121+a, gdbSNP:200392534
1198+dbSNP:
1198+a, gdbSNP:147613921
1216+g, tdbSNP:77074957
1218+a, gdbSNP:186875564
1245+a, gdbSNP:28362775
1313+a, gdbSNP:150207791
1322+g, tdbSNP:138805494
1331+a, gdbSNP:149342451
1430+dbSNP:
1430+c, tdbSNP:28362777
1454+a, gdbSNP:138248389
1459+c, gdbSNP:1045644
1496..1497+, cdbSNP:36109457
1532+c, tdbSNP:146166304
1556+c, tdbSNP:140108742
1571+c, tdbSNP:77370101
1588+a, gdbSNP:200904881
1604+a, gdbSNP:150529026
1608+a, gdbSNP:28362778
1625+c, tdbSNP:199608109
1673+a, gdbSNP:35353967
1674+g, tdbSNP:61759484
1752+a, gdbSNP:139503327
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
2232+, tdbSNP:11301076
2294+c, gdbSNP:190142757
2302+a, gdbSNP:45624239
2396+c, tdbSNP:187461561
2464+c, tdbSNP:7152503
2541..2543+, aatdbSNP:143806137
2541+, aatdbSNP:10610193
2542..2544+, atadbSNP:61035395
2543..2545+, taadbSNP:111297834
2640+c, tdbSNP:77851565
2682+c, tdbSNP:143467211
2723+c, tdbSNP:56229109
2768..2772+, gtaaadbSNP:10562264
2770..2771+, actttdbSNP:200244885
2770+, aaagtdbSNP:28362786
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_001135058 Homo sapiens coagulation factor C homolog, cochlin (Limulus polyphemus) (COCH), transcript variant 1, mRNA. On-demand $699.00 18
NM_004086 Homo sapiens coagulation factor C homolog, cochlin (Limulus polyphemus) (COCH), transcript variant 2, mRNA. On-demand $699.00 18
Title A novel COCH mutation associated with autosomal dominant nonsyndromic hearing loss disrupts the structural stability of the vWFA2 domain .
Author Cho,H.J., Park,H.J., Trexler,M., Venselaar,H., Lee,K.Y., Robertson,N.G., Baek,J.I., Kang,B.S., Morton,C.C., Vriend,G., Patthy,L. and Kim,U.K.
Journal J. Mol. Med. 90 (11), 1321-1331 (2012)
Title Phenotype analysis of an Australian DFNA9 family with the 1109N .
Author Pauw,R.J., Huygen,P.L., Colditz,G.M. and Cremers,C.W.
Journal Ann. Otol. Rhinol. Laryngol. 120 (6), 414-421 (2011)
Title Cochlin induced TREK-1 co-expression and annexin A2 secretion: role in trabecular meshwork cell elongation and motility .
Author Goel,M., Sienkiewicz,A.E., Picciani,R., Lee,R.K. and Bhattacharya,S.K.
Journal PLoS ONE 6 (8), E23070 (2011)
Title A novel mutation in COCH-implications for genotype-phenotype correlations in DFNA9 hearing loss .
Author Hildebrand,M.S., Gandolfo,L., Shearer,A.E., Webster,J.A., Jensen,M., Kimberling,W.J., Stephan,D., Huygen,P.L., Smith,R.J. and Bahlo,M.
Journal Laryngoscope 120 (12), 2489-2493 (2010)
Title The Trp117Arg mutation of the COCH gene causes deafness in Koreans .
Author Baek,J.I., Cho,H.J., Choi,S.J., Kim,L.S., Zhao,C., Sagong,B.R., Kim,U.K. and Jeong,S.W.
Journal Clin. Genet. 77 (4), 399-403 (2010)
Title Mapping and characterization of a novel cochlear gene in human and in mouse: a positional candidate gene for a deafness disorder, DFNA9 .
Author Robertson,N.G., Skvorak,A.B., Yin,Y., Weremowicz,S., Johnson,K.R., Kovatch,K.A., Battey,J.F., Bieber,F.R. and Morton,C.C.
Journal Genomics 46 (3), 345-354 (1997)
Title A gene for non-syndromic autosomal dominant progressive postlingual sensorineural hearing loss maps to chromosome 14q12-13 .
Author Manolis,E.N., Yandavi,N., Nadol,J.B. Jr., Eavey,R.D., McKenna,M., Rosenbaum,S., Khetarpal,U., Halpin,C., Merchant,S.N., Duyk,G.M., MacRae,C., Seidman,C.E. and Seidman,J.G.
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,N.G., Khetarpal,U., Gutierrez-Espeleta,G.A., Bieber,F.R. and Morton,C.C.
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 Autosomal dominant sensorineural hearing loss. Pedigrees, audiologic findings, and temporal bone findings in two kindreds .
Author Khetarpal,U., Schuknecht,H.F., Gacek,R.R. and Holmes,L.B.
Journal Arch. Otolaryngol. Head Neck Surg. 117 (9), 1032-1042 (1991)


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