Gene
pi4k2a
- ID
- ZDB-GENE-040426-2675
- Name
- phosphatidylinositol 4-kinase type 2 alpha
- Symbol
- pi4k2a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 1 Mapping Details/Browsers
- Description
- Predicted to have 1-phosphatidylinositol 4-kinase activity; AP-3 adaptor complex binding activity; and ATP binding activity. Predicted to be involved in Golgi organization; endosome organization; and phosphatidylinositol metabolic process. Predicted to colocalize with BLOC-1 complex. Orthologous to human PI4K2A (phosphatidylinositol 4-kinase type 2 alpha).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:63646 (1 image)
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 |
|---|---|---|---|
| Neurodevelopmental disorder with hyperkinetic movements, seizures and structural brain abnormalities | 620732 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Phosphatidylinositol 3-/4-kinase, catalytic domain | Type II phosphatidylinositol 4-kinase Lsb6/PI4K2 |
|---|---|---|---|
|
UniProtKB:Q6PE18
|
447 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
pi4k2a-201
(1)
|
Ensembl | 3,822 nt | ||
| mRNA |
pi4k2a-202
(1)
|
Ensembl | 3,366 nt |
Interactions and Pathways
No data available
Plasmids
No data available