Gene
cfap52
- ID
- ZDB-GENE-050522-296
- Name
- cilia and flagella associated protein 52
- Symbol
- cfap52 Nomenclature History
- Previous Names
-
- fj15f10
- si:dkey-28k21.1
- wdr16
- wu:fj15f10
- zgc:111988 (1)
- Type
- protein_coding_gene
- Location
- Chr: 6 Mapping Details/Browsers
- Description
- Predicted to be located in axoneme and motile cilium. Is expressed in nervous system and pronephros. Human ortholog(s) of this gene implicated in visceral heterotaxy 10. Orthologous to human CFAP52 (cilia and flagella associated protein 52).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Hirschner et al., 2007
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
visceral heterotaxy 10 | Alliance | Heterotaxy, visceral, 10, autosomal, with male infertility | 619607 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Conserved_site | IPR019775 | WD40 repeat, conserved site |
Family | IPR050630 | WD repeat Echinoderm Microtubule-associated Protein-like |
Homologous_superfamily | IPR011047 | Quinoprotein alcohol dehydrogenase-like superfamily |
Homologous_superfamily | IPR015943 | WD40/YVTN repeat-like-containing domain superfamily |
Homologous_superfamily | IPR036322 | WD40-repeat-containing domain superfamily |
Repeat | IPR001680 | WD40 repeat |
Domain Details Per Protein
Protein | Additional Resources | Length | Quinoprotein alcohol dehydrogenase-like superfamily | WD40 repeat | WD40 repeat, conserved site | WD40-repeat-containing domain superfamily | WD40/YVTN repeat-like-containing domain superfamily | WD repeat Echinoderm Microtubule-associated Protein-like |
---|---|---|---|---|---|---|---|---|
UniProtKB:Q502N0 | InterPro | 617 |
Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
cfap52-201
(1)
|
Ensembl | 2,189 nt | ||
ncRNA |
cfap52-002
(1)
|
Ensembl | 546 nt |
Interactions and Pathways
No data available
Plasmids
No data available