Gene
cfap418
- ID
- ZDB-GENE-100921-86
- Name
- cilia and flagella associated protein 418
- Symbol
- cfap418 Nomenclature History
- Previous Names
-
- si:dkey-242e21.4
- Type
- protein_coding_gene
- Location
- Chr: 16 Mapping Details/Browsers
- Description
- Involved in Kupffer's vesicle development and melanosome transport. Predicted to localize to cytoplasm. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome and cone-rod dystrophy 16. Is expressed in brain; eye; heart; liver; and pleuroperitoneal region. Orthologous to human C8orf37 (chromosome 8 open reading frame 37).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Heon et al., 2016
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Heon et al., 2016
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Bardet-Biedl syndrome 21 | Alliance | Bardet-Biedl syndrome 21 | 617406 |
| cone-rod dystrophy 16 | Alliance | Cone-rod dystrophy 16 | 614500 |
| cone-rod dystrophy 16 | Alliance | Retinitis pigmentosa 64 | 614500 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Family | IPR029239 | Cilia- and flagella-associated protein 418 |
Domain Details Per Protein
| Protein | Length | Cilia- and flagella-associated protein 418 |
|---|---|---|
|
UniProtKB:P0DOC8
|
- Genome Browsers
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| ncRNA |
si:dkey-242e21.4-001
(1)
|
Ensembl | 517 nt | ||
| ncRNA |
si:dkey-242e21.4-002
(1)
|
Ensembl | 493 nt |
Interactions and Pathways
No data available
Plasmids
No data available