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COCH cochlin [Homo sapiens (human)]


Clone ID RefSeq Accession Definition Vector Stock Status *Turnaround time Price Order
OHu27128 NM_004086 Homo sapiens cochlin (COCH), transcript variant 2, mRNA. pcDNA3.1+-DYK On-demand 7-9 $219.00
OHu27128 NM_001135058 Homo sapiens cochlin (COCH), transcript variant 1, mRNA. pcDNA3.1+-DYK On-demand 7-9 $219.00
OHu27128 XM_006720073 PREDICTED: Homo sapiens cochlin (COCH), transcript variant X1, mRNA. pcDNA3.1+-DYK On-demand 7-9 $219.00
OHu27128C NM_004086 Homo sapiens cochlin (COCH), transcript variant 2, mRNA. Customized vector On-demand 7-9 $269.00
OHu27128C NM_001135058 Homo sapiens cochlin (COCH), transcript variant 1, mRNA. Customized vector On-demand 7-9 $269.00
OHu27128C XM_006720073 PREDICTED: Homo sapiens cochlin (COCH), transcript variant X1, mRNA. Customized vector On-demand 7-9 $269.00

*Business Day

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Gene Symbol COCH
Entrez Gene ID 1690
Full Name cochlin
Synonyms COCH-5B2, COCH5B2, DFNA9
General protein information
Preferred Names
cochlin
Names
cochlin
coagulation factor C homolog, cochlin (Limulus polyphemus)
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

14

14q11.2-q13

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].
Disorder

MIM: 603196

Deafness, autosomal dominant 9, 601369 (3)

mRNA Protein Product Sequence Price Select
NM_001135058, 205277470 NP_001128530, 205277471 cochlin precursor ORF Sequence $550.00
NM_004086, 205277469 NP_004077, 4758022 cochlin precursor ORF Sequence $550.00
XM_006720073, 578825580 XP_006720136, 578825581 cochlin isoform X1 ORF Sequence $550.00
Homo sapiens (human)COCHNP_001128530.1
Pan troglodytes (chimpanzee)COCHXP_001171057.1
Macaca mulatta (Rhesus monkey)COCHXP_001114797.1
Canis lupus familiaris (dog)COCHXP_547762.4
Bos taurus (cattle)COCHNP_001071310.1
Mus musculus (house mouse)CochNP_031754.1
Gallus gallus (chicken)COCHNP_990268.1
Danio rerio (zebrafish)cochNP_001003823.1
Xenopus (Silurana) tropicalis (western clawed frog)cochXP_004917329.1
Process
IDNameEvidence
GO:0007605sensory perception of soundIEA
GO:0008360regulation of cell shapeIMP
Component
IDNameEvidence
GO:0005578proteinaceous extracellular matrixIEA
GO:0070062extracellular vesicular exosomeIDA
Function
IDNameEvidence
GO:0005515protein bindingIPI
GeneCards COCH
PDB 1JBI
UniProt O43405
Vega OTTHUMG00000029432
MIM 603196
Ensembl ENSG00000100473
HGNC 2180
HPRD 04431

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Interactant

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