Gene
hpca
- ID
- ZDB-GENE-040426-1683
- Name
- hippocalcin
- Symbol
- hpca Nomenclature History
- Previous Names
-
- zgc:73126
- Type
- protein_coding_gene
- Location
- Chr: 19 Mapping Details/Browsers
- Description
- Predicted to have calcium ion binding activity. Human ortholog(s) of this gene implicated in torsion dystonia 2. Is expressed in hatching gland; nervous system; neural rod; and neural tube. Orthologous to human HPCA (hippocalcin).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 7 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:73126 (7 images)
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 |
---|---|---|---|
torsion dystonia 2 | Alliance | Dystonia 2, torsion, autosomal recessive | 224500 |
Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Length | EF-Hand 1, calcium-binding site | EF-hand domain | EF-hand domain pair | Recoverin family |
---|---|---|---|---|---|
UniProtKB:Q6PC34
|
193 |
Interactions and Pathways
No data available
Plasmids
No data available