Gene
coch
- ID
- ZDB-GENE-030616-403
- Name
- coagulation factor C homolog, cochlin (Limulus polyphemus)
- Symbol
- coch Nomenclature History
- Previous Names
-
- si:dz234g15.4
- Type
- protein_coding_gene
- Location
- Chr: 17 Mapping Details/Browsers
- Description
- Predicted to be involved in growth plate cartilage chondrocyte morphogenesis. Predicted to localize to collagen-containing extracellular matrix and extracellular space. Human ortholog(s) of this gene implicated in autosomal dominant nonsyndromic deafness 9 and autosomal recessive nonsyndromic deafness 110. Orthologous to human COCH (cochlin).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Leventea et al., 2021
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal dominant nonsyndromic deafness 9 | Alliance | Deafness, autosomal dominant 9 | 601369 |
| autosomal recessive nonsyndromic deafness 110 | Alliance | ?Deafness, autosomal recessive 110 | 618094 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | LCCL domain | LCCL domain superfamily | von Willebrand factor A-like domain superfamily | von Willebrand factor, type A |
|---|---|---|---|---|---|
|
UniProtKB:Q8AW56
|
553 |
Interactions and Pathways
No data available
Plasmids
No data available