Gene
intu
- ID
- ZDB-GENE-110914-91
- Name
- inturned planar cell polarity protein
- Symbol
- intu Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 7 Mapping Details/Browsers
- Description
- Predicted to be involved in several processes, including cilium assembly; limb development; and regulation of smoothened signaling pathway. Predicted to localize to cytoplasm. Human ortholog(s) of this gene implicated in asphyxiating thoracic dystrophy and orofaciodigital syndrome XVII. Orthologous to human INTU (inturned planar cell polarity protein).
- 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 |
|---|---|---|---|
| orofaciodigital syndrome XVII | Alliance | ?Orofaciodigital syndrome XVII | 617926 |
| ?Short-rib thoracic dysplasia 20 with polydactyly | 617925 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | CCZ1/INTU/HPS4, third Longin domain | CCZ1/INTU/HSP4, first Longin domain | CCZ1/INTU, second Longin domain | PDZ domain | PDZ superfamily | Protein inturned |
|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M1PT24
|
926 | ||||||
|
UniProtKB:A0A0H2UJB2
|
926 |
Interactions and Pathways
No data available
Plasmids
No data available