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HUMAN:COCH
Contents
| Species (Taxon ID) | Homo sapiens (Human). (9606) | |
| Gene Name(s) | COCH (synonyms: COCH5B2) | |
| Protein Name(s) | Cochlin
COCH-5B2 | |
| External Links | ||
| UniProt | O43405 | |
| EMBL | AF006740 AY358900 AK292724 AY916789 AL049830 CH471078 CH471078 CH471078 BC007230 | |
| CCDS | CCDS9640.1 | |
| RefSeq | NP_001128530.1 NP_004077.1 XP_006720136.1 | |
| UniGene | Hs.21016 | |
| PDB | 1JBI | |
| PDBsum | 1JBI | |
| ProteinModelPortal | O43405 | |
| SMR | O43405 | |
| BioGrid | 108051 | |
| IntAct | O43405 | |
| STRING | 9606.ENSP00000216361 | |
| PhosphoSite | O43405 | |
| MaxQB | O43405 | |
| PaxDb | O43405 | |
| PRIDE | O43405 | |
| Ensembl | ENST00000216361 ENST00000396618 ENST00000475087 | |
| GeneID | 1690 | |
| KEGG | hsa:1690 | |
| UCSC | uc001wqp.2 uc001wqq.4 | |
| CTD | 1690 | |
| GeneCards | GC14P031343 | |
| GeneReviews | COCH | |
| H-InvDB | HIX0023242 | |
| HGNC | HGNC:2180 | |
| HPA | HPA050122 | |
| MIM | 601369 603196 | |
| neXtProt | NX_O43405 | |
| Orphanet | 90635 45360 | |
| PharmGKB | PA26693 | |
| eggNOG | NOG277584 | |
| GeneTree | ENSGT00760000119000 | |
| HOGENOM | HOG000013195 | |
| HOVERGEN | HBG005372 | |
| InParanoid | O43405 | |
| OMA | DSNFHLM | |
| OrthoDB | EOG71RXJM | |
| PhylomeDB | O43405 | |
| TreeFam | TF318242 | |
| ChiTaRS | COCH | |
| EvolutionaryTrace | O43405 | |
| GeneWiki | COCH | |
| GenomeRNAi | 1690 | |
| NextBio | 6926 | |
| PRO | PR:O43405 | |
| Proteomes | UP000005640 | |
| Bgee | O43405 | |
| CleanEx | HS_COCH | |
| ExpressionAtlas | O43405 | |
| Genevestigator | O43405 | |
| GO | GO:0070062 GO:0005578 GO:0042742 GO:0045089 GO:0008360 GO:0007605 | |
| Gene3D | 2.170.130.20 3.40.50.410 | |
| InterPro | IPR004043 IPR002035 | |
| Pfam | PF03815 PF00092 | |
| SMART | SM00603 SM00327 | |
| SUPFAM | SSF53300 SSF69848 | |
| PROSITE | PS50820 PS50234 | |
Annotations
| Qualifier | GO ID | GO term name | Reference | ECO ID | ECO term name | with/from | Aspect | Extension | Notes | Status |
|---|---|---|---|---|---|---|---|---|---|---|
|
part_of |
GO:0062023 |
collagen-containing extracellular matrix |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
|
enables |
GO:0005518 |
collagen binding |
ECO:0000314 |
direct assay evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0008360 |
regulation of cell shape |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0062023 |
collagen-containing extracellular matrix |
ECO:0000318 |
biological aspect of ancestor evidence used in manual assertion |
MGI:MGI:109613 |
C |
Seeded From UniProt |
complete | ||
|
part_of |
GO:0031012 |
extracellular matrix |
ECO:0000318 |
biological aspect of ancestor evidence used in manual assertion |
MGI:MGI:106591 |
C |
Seeded From UniProt |
complete | ||
|
part_of |
GO:0005615 |
extracellular space |
ECO:0000318 |
biological aspect of ancestor evidence used in manual assertion |
MGI:MGI:2684334 |
C |
Seeded From UniProt |
complete | ||
|
involved_in |
GO:0003429 |
growth plate cartilage chondrocyte morphogenesis |
ECO:0000318 |
biological aspect of ancestor evidence used in manual assertion |
MGI:MGI:106591 |
P |
Seeded From UniProt |
complete | ||
|
involved_in |
GO:0042742 |
defense response to bacterium |
ECO:0000256 |
match to sequence model evidence used in automatic assertion |
P |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0045089 |
positive regulation of innate immune response |
ECO:0000256 |
match to sequence model evidence used in automatic assertion |
P |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0062023 |
collagen-containing extracellular matrix |
ECO:0000256 |
match to sequence model evidence used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0007605 |
sensory perception of sound |
ECO:0000304 |
author statement supported by traceable reference used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0007605 |
sensory perception of sound |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
P |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0005576 |
extracellular region |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
Notes
References
See Help:References for how to manage references in GONUTS.
- ↑ 1.0 1.1 Cho, HJ et al. (2012) A novel COCH mutation associated with autosomal dominant nonsyndromic hearing loss disrupts the structural stability of the vWFA2 domain. J. Mol. Med. 90 1321-31 PubMed GONUTS page
- ↑ Goel, M et al. (2011) Cochlin induced TREK-1 co-expression and annexin A2 secretion: role in trabecular meshwork cell elongation and motility. PLoS ONE 6 e23070 PubMed GONUTS page
- ↑ 3.0 3.1 3.2 3.3 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page
- ↑ Robertson, NG et al. (1998) Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction. Nat. Genet. 20 299-303 PubMed GONUTS page
