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Protein Coding Gene : Coch cochlin

Primary Identifier  MGI:1278313 Organism  mouse, laboratory
Chromosome  12 NCBI Gene Number  12810
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0)

Predicted to enable collagen binding activity. Acts upstream of or within sensory perception of sound. Located in extracellular matrix. Is expressed in central nervous system; inner ear; olfactory epithelium; and vibrissa. Used to study autosomal dominant nonsyndromic deafness 9. Human ortholog(s) of this gene implicated in autosomal dominant nonsyndromic deafness 9 and autosomal recessive nonsyndromic deafness 110. Orthologous to human COCH (cochlin).
PHENOTYPE: Homozygotes for a point mutation have vestibular and hearing dysfunctions that worsen with age. Homozyogtes for a null allele have no abnormal phenotype. [provided by MGI curators]
  • synonyms:
  • DNA segment, Chr 12, human D14S564E,
  • Coch,
  • Coch-5B2,
  • D12H14S564E,
  • cochlin,
  • MGI:2145007,
  • expressed sequence AW122937,
  • AW122937

Features --> Cross References

Genome

Sequence Feature Displayer

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0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

1 Involved In Mutations

0 Strain

0 Transcripts

0 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

0 Pathways

0 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

Mouse features --> Publications

 

Other

1 Driver For