Gene
casr
- ID
- ZDB-GENE-050119-8
- Name
- calcium-sensing receptor
- Symbol
- casr Nomenclature History
- Previous Names
-
- CaSR (1)
- casrl
- zmp:0000001046
- Type
- protein_coding_gene
- Location
- Chr: 5 Mapping Details/Browsers
- Description
- Predicted to enable G protein-coupled receptor activity and calcium ion binding activity. Acts upstream of or within calcium ion homeostasis and skeletal system development. Predicted to be located in membrane. Predicted to be active in plasma membrane. Is expressed in several structures, including head; integument; nervous system; notochord; and pleuroperitoneal region. Human ortholog(s) of this gene implicated in several diseases, including autosomal dominant hypocalcemia (multiple); hypercalcemia (multiple); hyperparathyroidism (multiple); idiopathic generalized epilepsy 8; and nephrolithiasis (multiple). Orthologous to human CASR (calcium sensing receptor).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 14 figures from 7 publications
- 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 |
|---|---|---|---|
| autosomal dominant hypocalcemia 1 | Alliance | Hypocalcemia, autosomal dominant | 601198 |
| autosomal dominant hypocalcemia 1 | Alliance | Hypocalcemia, autosomal dominant, with Bartter syndrome | 601198 |
| familial hypocalciuric hypercalcemia 1 | Alliance | Hypocalciuric hypercalcemia, type I | 145980 |
| Hyperparathyroidism, neonatal | 239200 | ||
| {?Epilepsy idiopathic generalized, susceptibility to, 8} | 612899 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR001828 | Receptor, ligand binding region |
| Domain | IPR011500 | GPCR, family 3, nine cysteines domain |
| Domain | IPR017978 | GPCR family 3, C-terminal |
| Family | IPR000068 | GPCR, family 3, extracellular calcium-sensing receptor-related |
| Family | IPR000337 | GPCR, family 3 |
| Homologous_superfamily | IPR028082 | Periplasmic binding protein-like I |
| Homologous_superfamily | IPR038550 | GPCR, family 3, nine cysteines domain superfamily |
Domain Details Per Protein
| Protein | Length | GPCR, family 3 | GPCR family 3, C-terminal | GPCR, family 3, extracellular calcium-sensing receptor-related | GPCR, family 3, nine cysteines domain | GPCR, family 3, nine cysteines domain superfamily | Periplasmic binding protein-like I | Receptor, ligand binding region |
|---|---|---|---|---|---|---|---|---|
|
UniProtKB:F1R4B8
|
944 | |||||||
|
UniProtKB:A0A8M6Z789
|
956 | |||||||
|
UniProtKB:A0A8M1P4E9
|
946 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available
- Comparative Orthology
- Alliance