Gene
colq
- ID
- ZDB-GENE-110411-119
- Name
- collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
- Symbol
- colq Nomenclature History
- Previous Names
-
- si:dkeyp-86h10.5
- Type
- protein_coding_gene
- Location
- Chr: 16 Mapping Details/Browsers
- Description
- Predicted to have extracellular matrix structural constituent and heparin binding activity. Predicted to be involved in extracellular matrix organization. Predicted to localize to extracellular matrix and extracellular space. Human ortholog(s) of this gene implicated in congenital myasthenic syndrome 5. Orthologous to human COLQ (collagen like tail subunit of asymmetric acetylcholinesterase).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| congenital myasthenic syndrome 5 | Alliance | Myasthenic syndrome, congenital, 5 | 603034 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Collagen superfamily | Collagen triple helix repeat | Myxococcus cysteine-rich repeat |
|---|---|---|---|---|
|
UniProtKB:F1Q7Y1
|
455 | |||
|
UniProtKB:A0A8M3ATD0
|
467 |
Interactions and Pathways
No data available
Plasmids
No data available