• Gene id: 1690

Gene Summary

• Gene Symbol: COCH   Gene   UCSC   Ensembl
• Aliases: COCH-5B2, COCH5B2, DFNA9, DFNB110
• Gene name: cochlin
• Alternate names: cochlin, coagulation factor C homolog, cochlin (Limulus polyphemus),
• Gene location: 14q12 (30874495: 30890617)     Exons: 13     NC_000014.9
• Gene summary(Entrez): 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
• OMIM: 613228

Protein Summary

• Protein general information: O43405  
  • Name: Cochlin (COCH 5B2)
  • Length: 550  
  • Mass: 59483
  • Tissue specificity: Expressed in inner ear structures; the cochlea and the vestibule.
• Sequence:

  MSAAWIPALGLGVCLLLLPGPAGSEGAAPIAITCFTRGLDIRKEKADVLCPGGCPLEEFSVYGNIVYASVSSICG
  AAVHRGVISNSGGPVRVYSLPGRENYSSVDANGIQSQMLSRWSASFTVTKGKSSTQEATGQAVSTAHPPTGKRLK
  KTPEKKTGNKDCKADIAFLIDGSFNIGQRRFNLQKNFVGKVALMLGIGTEGPHVGLVQASEHPKIEFYLKNFTSA
  KDVLFAIKEVGFRGGNSNTGKALKHTAQKFFTVDAGVRKGIPKVVVVFIDGWPSDDIEEAGIVAREFGVNVFIVS
  VAKPIPEELGMVQDVTFVDKAVCRNNGFFSYHMPNWFGTTKYVKPLVQKLCTHEQMMCSKTCYNSVNIAFLIDGS
  SSVGDSNFRLMLEFVSNIAKTFEISDIGAKIAAVQFTYDQRTEFSFTDYSTKENVLAVIRNIRYMSGGTATGDAI
  SFTVRNVFGPIRESPNKNFLVIVTDGQSYDDVQGPAAAAHDAGITIFSVGVAWAPLDDLKDMASKPKESHAFFTR
  EFTGLEPIVSDVIRGICRDFLESQQ

• Structural information:
  • Protein Domains: (28..12-)
    (/note="LCCL-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00123-)
    (165..34-)
    (/note="VWFA-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00219-)
    (367..53-)
    (/note="VWFA-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00219"-)
  • Interpro: IPR030743  IPR004043  IPR036609  IPR002035  IPR036465  
  • Prosite: PS50820 PS50234
  • PDB: 1JBI
  • PDBsum: 1JBI
  • STRING: ENSP00000379862
• Other Databases: GeneCards:  COCH  Malacards:  COCH

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003429	growth plate cartilage chondrocyte morphogenesis	IBA	biological process
GO:0005615	extracellular space	IBA	cellular component
GO:0062023	collagen-containing extracellular matrix	IBA	cellular component
GO:0005518	collagen binding	IDA	molecular function
GO:0062023	collagen-containing extracellular matrix	IDA	cellular component
GO:0008360	regulation of cell shape	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0062023	collagen-containing extracellular matrix	IEA	cellular component
GO:0042742	defense response to bacterium	IEA	biological process
GO:0045089	positive regulation of innate immune response	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0007605	sensory perception of sound	IEA	biological process
GO:0007605	sensory perception of sound	TAS	biological process

Diseases

Associated diseases	References
Deafness, autosomal recessive	KEGG:H00605
Deafness, autosomal dominant	KEGG:H00604
Bilateral sudden sensorineural hearing loss	KEGG:H01705
Deafness, autosomal recessive	KEGG:H00605
Deafness, autosomal dominant	KEGG:H00604
Bilateral sudden sensorineural hearing loss	KEGG:H01705
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray