ZFIN is now using GRCz12tu for Genomic Data
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
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- Acts upstream of or within Kupffer's vesicle development and melanosome transport. Predicted to be located in photoreceptor inner segment. Predicted to be active in ciliary base and cytoplasm. Is expressed in brain; eye; heart; liver; and pleuroperitoneal region. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome 21 and cone-rod dystrophy 16. Orthologous to human CFAP418 (cilia and flagella associated protein 418).
- 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 | Additional Resources | Length | Cilia- and flagella-associated protein 418 |
|---|---|---|---|
| UniProtKB:P0DOC8 | InterPro | ||
| UniProtKB:A0AB13A9M2 | InterPro | 202 |
- 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
- Genome Browsers