Gene
c1qtnf5
- ID
- ZDB-GENE-050706-101
- Name
- C1q and TNF related 5
- Symbol
- c1qtnf5 Nomenclature History
- Previous Names
-
- wu:fb02c10
- wu:fb02f05
- zgc:112378
- Type
- protein_coding_gene
- Location
- Chr: 15 Mapping Details/Browsers
- Description
- Predicted to localize to collagen trimer and extracellular region. Human ortholog(s) of this gene implicated in isolated microphthalmia 5; late-onset retinal degeneration; microphthalmia; nanophthalmos; and retinitis pigmentosa. Is expressed in eye. Orthologous to several human genes including MFRP (membrane frizzled-related protein).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- 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 |
|---|---|---|---|
| late-onset retinal degeneration | Alliance | Retinal degeneration, late-onset, autosomal dominant | 605670 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | C1q domain | Collagen/C1q domain-containing | Collagen triple helix repeat | Tumour necrosis factor-like domain superfamily |
|---|---|---|---|---|---|
|
UniProtKB:Q4KMC6
|
248 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
c1qtnf5-201
(1)
|
Ensembl | 1,084 nt |
Interactions and Pathways
No data available
Plasmids
No data available