CASR Gene Summary [Human]
The protein encoded by this gene is a plasma membrane G protein-coupled receptor that senses small changes in circulating calcium concentration. The encoded protein couples this information to intracellular signaling pathways that modify parathyroid hormone secretion or renal cation handling, and thus this protein plays an essential role in maintaining mineral ion homeostasis. Mutations in this gene are a cause of familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia. [provided by RefSeq, Aug 2017]
Details
| Type | Protein Coding |
| Official Symbol | CASR |
| Official Name | calcium sensing receptor [Source:HGNC Symbol;Acc:HGNC:1514] |
| Ensembl ID | ENSG00000036828 |
| Bio databases IDs | |
| Aliases | calcium sensing receptor, severe neonatal hyperparathyroidism |
| Synonyms | BoPCaR1, calcium-sensing receptor, CAR, EIG8, FHH, FIH, GPRC2A, hCasR, HHC, HHC1, HYPOC1, NSHPT, PCAR1, RaKCaR |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human CASR often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- G-protein coupled receptor
- extracellular domain
- Receptor family ligand binding region
- PKC phosphorylation site
- intracellular loop
- protein kinase binding
- calcium ion binding
- AF-2 transcription activation domain
- 7 transmembrane sweet-taste receptor of 3 GCPR
- protein binding
- identical protein binding
- seven-transmembrane G protein-coupled receptor superfamily
- amino acid binding
- Type 1 periplasmic binding fold superfamily
- integrin binding
- transmembrane domain
- Nine Cysteines Domain of family 3 GPCR
- protein homodimerization
- ion channel binding
- cytosolic tail domain
Pathways
Biological processes and signaling networks where the CASR gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- cancer
- asthma
- epilepsy
- dwarfism
- familial hypocalciuric hypercalcemia
- secondary hyperparathyroidism
- parathyroid carcinoma
- non-insulin-dependent diabetes mellitus
- hereditary disorder
- end stage renal disease
role in cell
- expression in
- proliferation
- differentiation
- apoptosis
- migration
- production in
- activation
- number
- outgrowth
- ruffling
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- membrane fraction
- glutaminergic synapse
- Cytoplasm
- cell surface
- intracellular space
- basal compartment
- perinuclear region
- cellular membrane
- basolateral cell surfaces
- apical membrane
- presynaptic membrane
- basolateral membrane
- membrane processes
- perikaryon
- axons
- axon terminals
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CASR gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway
- calcium ion import
- positive regulation of cell proliferation
- positive regulation of vasoconstriction
- anatomical structure morphogenesis
- JNK cascade
- vasodilation
- branching morphogenesis of a tube
- chemosensory behavior
- response to ischemia
- ossification
- cellular response to glucose stimulus
- response to fibroblast growth factor stimulus
- bile acid secretion
- positive regulation of insulin secretion
- cellular response to hypoxia
- regulation of calcium ion transport
- G-protein coupled receptor signaling pathway
- positive regulation of positive chemotaxis
- fat pad development
- phospholipase C-activating G-protein coupled receptor signaling pathway
- positive regulation of calcium ion import
- cellular calcium ion homeostasis
- detection of calcium ion
- cellular response to hepatocyte growth factor stimulus
- positive regulation of gene expression
- positive regulation of ERK1 and ERK2 cascade
- cellular response to low-density lipoprotein particle stimulus
- cellular response to vitamin D
Cellular Component
Where in the cell the gene product is active
- neuronal cell body
- basolateral plasma membrane
- axon terminus
- plasma membrane
- apical plasma membrane
- cell surface
Molecular Function
What the gene product does at the molecular level
- G-protein coupled receptor activity
- phosphatidylinositol phospholipase C activity
- protein kinase binding
- protein binding
- protein homodimerization activity
- calcium ion binding
- integrin binding
- amino acid binding
- ion channel binding