• THAT   AND
  • THAT   AND


Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


COCH cochlin [Homo sapiens (human)]


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
NM_004086 Homo sapiens cochlin (COCH), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $699.00 18
XM_006720073 PREDICTED: Homo sapiens cochlin (COCH), transcript variant X1, mRNA. GenEZ ORF Cloning On-demand $699.00 18

*Business Day

Related Services

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?

What is the normal function of the COCH gene?

The COCH gene provides instructions for making a protein called cochlin. This protein is abundant in certain parts of the inner ear called the cochlea and the vestibular system. The cochlea is a snail-shaped structure that helps process sound, and the vestibular system consists of fluid-filled canals that help maintain the body's balance and orientation in space. Cochlin is exported from cells in the cochlea and vestibular system and becomes part of the extracellular matrix. The extracellular matrix is an intricate lattice that forms in the space between cells and provides structural support. Two regions of the cochlin protein, called the LCCL and vWFA domains, probably coordinate cochlin's interactions with other molecules in the extracellular matrix. These interactions are important in forming the extracellular matrix and keeping it organized. Although the exact role of cochlin remains unknown, it likely plays a role in the structure of the inner ear.

Interactant

Our customer service representatives are available 24 hours a day, Monday through Friday; please contact us anytime for assistance.