COCH
entrez
1690
canonical
uniprot
O43405
canonical
ensembl
ENSG00000100473
resolver
ensp
ENSP00000216361
resolver
ensp
ENSP00000379862
resolver
ensp
ENSP00000496360
resolver
ensp
ENSP00000584837
resolver
ensp
ENSP00000584838
resolver
ensp
ENSP00000634847
resolver
enst
ENST00000216361
resolver
enst
ENST00000914779
resolver
genesymbol
COCH
resolver
genesymbol_syn
COCH5B2
resolver
hgnc
HGNC:2180
resolver
uniprot
A0A2U3TZE7
resolver
uniprot
A8K9K9
resolver
uniprot
D3DS84
resolver
uniprot
Q96IU6
resolver
uniprot_entry
A0A2U3TZE7_HUMAN
resolver
uniprot_entry
COCH_HUMAN
resolver
uniprot_sec
A8K9K9
resolver
uniprot_sec
D3DS84
resolver
uniprot_sec
Q96IU6
resolver
amino_acid_sequence
MSAAWIPALGLGVCLLLLPGPAGSEGAAPIAITCFTRGLDIRKEKADVLCPGGCPLEEFSVYGNIVYASVSSICGAAVHRGVISNSGGPVRVYSLPGRENYSSVDANGIQSQMLSRWSASFTVTKGKSSTQEATGQAVSTAHPPTGKRLKKTPEKKTGNKDCKADIAFLIDGSFNIGQRRFNLQKNFVGKVALMLGIGTEGPHVGLVQASEHPKIEFYLKNFTSAKDVLFAIKEVGFRGGNSNTGKALKHTAQKFFTVDAGVRKGIPKVVVVFIDGWPSDDIEEAGIVAREFGVNVFIVSVAKPIPEELGMVQDVTFVDKAVCRNNGFFSYHMPNWFGTTKYVKPLVQKLCTHEQMMCSKTCYNSVNIAFLIDGSSSVGDSNFRLMLEFVSNIAKTFEISDIGAKIAAVQFTYDQRTEFSFTDYSTKENVLAVIRNIRYMSGGTATGDAISFTVRNVFGPIRESPNKNFLVIVTDGQSYDDVQGPAAAAHDAGITIFSVGVAWAPLDDLKDMASKPKESHAFFTREFTGLEPIVSDVIRGICRDFLESQQ
uniprot
proteins
disease_involvement
DISEASE: Deafness, autosomal dominant, 9 (DFNA9) [MIM:601369]: A form of non-syndromic hearing loss characterized by onset in the fourth or fifth decade of life and initially involves the high frequencies. Hearing loss is progressive and usually complete by the sixth decade. In addition to cochlear involvement, DFNA9 patients also exhibit a spectrum of vestibular dysfunctions. Penetrance of the vestibular symptoms is often incomplete, and some patients are minimally affected, whereas others suffer from severe balance disturbances and episodes of vertigo. Affected individuals have mucopolysaccharide depositions in the channels of the cochlear and vestibular nerves. These depositions apparently cause strangulation and degeneration of dendritic fibers. {ECO:0000269|PubMed:10400989, ECO:0000269|PubMed:11295836, ECO:0000269|PubMed:12928864, ECO:0000269|PubMed:14512963, ECO:0000269|PubMed:16835921, ECO:0000269|PubMed:17561763, ECO:0000269|PubMed:18312449, ECO:0000269|PubMed:22610276, ECO:0000269|PubMed:22931125, ECO:0000269|PubMed:23993205, ECO:0000269|PubMed:25388789, ECO:0000269|PubMed:9806553, ECO:0000269|PubMed:9931344}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Deafness, autosomal recessive, 110 (DFNB110) [MIM:618094]: A form of non-syndromic, sensorineural deafness characterized by prelingual hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNB110 affected individuals additionally exhibit mild, age-dependent vestibular dysfunction. {ECO:0000269|PubMed:29449721}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Plays a role in the control of cell shape and motility in the trabecular meshwork. {ECO:0000269|PubMed:21886777}.
uniprot
proteins
mass_dalton
59483
uniprot
proteins
post_translational_modification
PTM: N-glycosylated. {ECO:0000269|PubMed:12843317}.; PTM: A 50 kDa form is created by proteolytic cleavage. {ECO:0000269|PubMed:12843317}.
uniprot
proteins
pubmed
10400989
uniprot
proteins
pubmed
11295836
uniprot
proteins
pubmed
11574466
uniprot
proteins
pubmed
12508121
uniprot
proteins
pubmed
12843317
uniprot
proteins
pubmed
12928864
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
14512963
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16835921
uniprot
proteins
pubmed
17561763
uniprot
proteins
pubmed
17926100
uniprot
proteins
pubmed
18312449
uniprot
proteins
pubmed
21886777
uniprot
proteins
pubmed
22610276
uniprot
proteins
pubmed
22931125
uniprot
proteins
pubmed
23993205
uniprot
proteins
pubmed
25388789
uniprot
proteins
pubmed
29449721
uniprot
proteins
pubmed
9441737
uniprot
proteins
pubmed
9806553
uniprot
proteins
pubmed
9931344
uniprot
proteins
sequence_length
550
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000269|PubMed:12843317, ECO:0000269|PubMed:22610276}.
uniprot
proteins