Gene
ttc7a
- ID
- ZDB-GENE-010319-27
- Name
- tetratricopeptide repeat domain 7A
- Symbol
- ttc7a Nomenclature History
- Previous Names
-
- id:ibd5135
- si:ch211-93n23.6
- Type
- protein_coding_gene
- Location
- Chr: 13 Mapping Details/Browsers
- Description
- Predicted to be involved in phosphatidylinositol phosphorylation and protein localization to plasma membrane. Predicted to localize to plasma membrane. Human ortholog(s) of this gene implicated in multiple intestinal atresia. Is expressed in brain; ectoderm; intestine; and notochord. Orthologous to human TTC7A (tetratricopeptide repeat domain 7A).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 3 figures from Jardine et al., 2019
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| multiple intestinal atresia | Alliance | Gastrointestinal defects and immunodeficiency syndrome | 243150 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Endocytosis and PI4K-regulating protein | Tetratricopeptide-like helical domain superfamily | Tetratricopeptide repeat | Tetratricopeptide repeat protein 7, N-terminal |
|---|---|---|---|---|---|
|
UniProtKB:A0A8M9PYB7
|
857 | ||||
|
UniProtKB:A0A8M9PFH5
|
885 | ||||
|
UniProtKB:A0A8M1QQW3
|
885 | ||||
|
UniProtKB:A0A8M9QA29
|
848 |
Interactions and Pathways
No data available
Plasmids
No data available