Homo sapiens (human): 1690
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Entry
1690 CDS
T01001
Symbol
COCH, COCH-5B2, COCH5B2, DFNA9, DFNB110, DFNA31
Name
(RefSeq) cochlin
KO
K23574
cochlin
Organism
hsa
Homo sapiens (human)
Disease
H00604
Deafness, autosomal dominant
H00605
Deafness, autosomal recessive
H01705
Bilateral sudden sensorineural hearing loss
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09180 Brite Hierarchies
09183 Protein families: signaling and cellular processes
04990 Domain-containing proteins not elsewhere classified [BR:
hsa04990
]
1690 (COCH)
Domain-containing proteins not elsewhere classified [BR:
hsa04990
]
Von Willebrand domain-containing proteins
VWA domain-containing proteins
1690 (COCH)
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Ortholog
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Gene cluster
GFIT
Motif
Pfam:
VWA
LCCL
VWA_2
VWA_3
Copine
Motif
Other DBs
NCBI-GeneID:
1690
NCBI-ProteinID:
NP_001128530
OMIM:
603196
HGNC:
2180
Ensembl:
ENSG00000100473
UniProt:
O43405
Structure
PDB
PDBj
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All DBs
Position
14:30874559..30895615
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AA seq
550 aa
AA seq
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MSAAWIPALGLGVCLLLLPGPAGSEGAAPIAITCFTRGLDIRKEKADVLCPGGCPLEEFS
VYGNIVYASVSSICGAAVHRGVISNSGGPVRVYSLPGRENYSSVDANGIQSQMLSRWSAS
FTVTKGKSSTQEATGQAVSTAHPPTGKRLKKTPEKKTGNKDCKADIAFLIDGSFNIGQRR
FNLQKNFVGKVALMLGIGTEGPHVGLVQASEHPKIEFYLKNFTSAKDVLFAIKEVGFRGG
NSNTGKALKHTAQKFFTVDAGVRKGIPKVVVVFIDGWPSDDIEEAGIVAREFGVNVFIVS
VAKPIPEELGMVQDVTFVDKAVCRNNGFFSYHMPNWFGTTKYVKPLVQKLCTHEQMMCSK
TCYNSVNIAFLIDGSSSVGDSNFRLMLEFVSNIAKTFEISDIGAKIAAVQFTYDQRTEFS
FTDYSTKENVLAVIRNIRYMSGGTATGDAISFTVRNVFGPIRESPNKNFLVIVTDGQSYD
DVQGPAAAAHDAGITIFSVGVAWAPLDDLKDMASKPKESHAFFTREFTGLEPIVSDVIRG
ICRDFLESQQ
NT seq
1653 nt
NT seq
+upstream
nt +downstream
nt
atgtccgcagcctggatcccggctctcggcctcggtgtgtgtctgctgctgctgccgggg
cccgcgggcagcgagggagccgctcccattgctatcacatgttttaccagaggcttggac
atcaggaaagagaaagcagatgtcctctgcccagggggctgccctcttgaggaattctct
gtgtatgggaacatagtatatgcttctgtatcgagcatatgtggggctgctgtccacagg
ggagtaatcagcaactcagggggacctgtacgagtctatagcctacctggtcgagaaaac
tattcctcagtagatgccaatggcatccagtctcaaatgctttctagatggtctgcttct
ttcacagtaactaaaggcaaaagtagtacacaggaggccacaggacaagcagtgtccaca
gcacatccaccaacaggtaaacgactaaagaaaacacccgagaagaaaactggcaataaa
gattgtaaagcagacattgcatttctgattgatggaagctttaatattgggcagcgccga
tttaatttacagaagaattttgttggaaaagtggctctaatgttgggaattggaacagaa
ggaccacatgtgggccttgttcaagccagtgaacatcccaaaatagaattttacttgaaa
aactttacatcagccaaagatgttttgtttgccataaaggaagtaggtttcagagggggt
aattccaatacaggaaaagccttgaagcatactgctcagaaattcttcacggtagatgct
ggagtaagaaaagggatccccaaagtggtggtggtatttattgatggttggccttctgat
gacatcgaggaagcaggcattgtggccagagagtttggtgtcaatgtatttatagtttct
gtggccaagcctatccctgaagaactggggatggttcaggatgtcacatttgttgacaag
gctgtctgtcggaataatggcttcttctcttaccacatgcccaactggtttggcaccaca
aaatacgtaaagcctctggtacagaagctgtgcactcatgaacaaatgatgtgcagcaag
acctgttataactcagtgaacattgcctttctaattgatggctccagcagtgttggagat
agcaatttccgcctcatgcttgaatttgtttccaacatagccaagacttttgaaatctcg
gacattggtgccaagatagctgctgtacagtttacttatgatcagcgcacggagttcagt
ttcactgactatagcaccaaagagaatgtcctagctgtcatcagaaacatccgctatatg
agtggtggaacagctactggtgatgccatttccttcactgttagaaatgtgtttggccct
ataagggagagccccaacaagaacttcctagtaattgtcacagatgggcagtcctatgat
gatgtccaaggccctgcagctgctgcacatgatgcaggaatcactatcttctctgttggt
gtggcttgggcacctctggatgacctgaaagatatggcttctaaaccgaaggagtctcat
gctttcttcacaagagagttcacaggattagaaccaattgtttctgatgtcatcagaggc
atttgtagagatttcttagaatcccagcaataa
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