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Gene : COCH Homo sapiens

Name  ? cochlin Cytological Location  14q12
Brief Description  cochlin
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 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]
  • synonyms:
  • DFNA31,
  • DFNB110,
  • NM_004086,
  • OTTHUMG00000029432,
  • COCH,
  • uc001wqr.3,
  • COCH-5B2,
  • DFNA9,
  • DFNA9,
  • HGNC:2180,
  • coagulation factor C homolog, cochlin (Limulus polyphemus),
  • COCH-5B2,
  • COCH5B2,
  • coagulation factor C (Limulus polyphemus homolog); cochlin
  • identifiers:
  • 1690,
  • ENSG00000100473,
  • COCH

Genome feature

Region: gene ? Length: 16123  
Location: 14:30874496-30890618 Cyto location: 14q12


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Function

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0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

2 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

973 SN Ps

5 Cross References

18 Data Sets

3 Homologues

0 Located Features

97 Rna Seq Results