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 have G protein-coupled receptor activity. Involved in calcium ion homeostasis and skeletal system development. Predicted to localize to integral component of membrane and 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 |
| idiopathic generalized epilepsy 8 | Alliance | {?Epilepsy idiopathic generalized, susceptibility to, 8} | 612899 |
| Hyperparathyroidism, neonatal | 239200 |
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