QuickView for cochlin (gene)

Gene Symbol:

COCH Homo sapiens

Full name:

cochlin

Synonyms:

COCH-5B2, COCH5B2, DFNA9, cochlin, coagulation factor C homolog, cochlin (Limulus polyphemus)

Genomic Location:

Chr 14: 30413516-30429573

Description:

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 neuri...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Danio rerio ,  Gallus gallus ,  Pan troglodytes ,  Canis lupus familiaris ,  Bos taurus

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

RTAAACA_FREAC2_01 ,  TTTGTAG_MIR520D ,  STAT6_01 ,  TATAAA_TATA_01 ,  STAT5A_03 ,  GCCNNNWTAAR_UNKNOWN ,  TTGTTT_FOXO4_01 ,  AAAYRNCTG_UNKNOWN ,  TGACAGNY_MEIS1_01

miRNA binding sites
(Source: TargetScan):

Predicted Gene Targets for miR-137 ,  Predicted Gene Targets for miR-378

Cytogenetic Map:

14q12

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