CASR - calcium sensing receptor Gene
Also Known as CAR; FHH; FIH; HHC; EIG8; HHC1; NSHPT; PCAR1; hCasR; GPRC2A; HYPOC1
Species: Homo sapiens
About CASR
This gene has 6 transcripts (splice variants), 203 orthologues, 4 paralogues and is associated with 8 phenotypes. Biased expression in kidney (RPKM 8.6), gall bladder (RPKM 2.1) and 2 other tissues.
Summary
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]
CASR Products (6)
| mRNA | Protein | Name |
|---|---|---|
| XM_047449065.1 | XP_047305021.1 | extracellular calcium-sensing receptor isoform X2 |
| XM_017007325.2 | XP_016862814.1 | extracellular calcium-sensing receptor isoform X1 |
| NM_000388.4 | NP_000379.3 | extracellular calcium-sensing receptor isoform 2 precursor |
| XM_017007324.2 | XP_016862813.1 | extracellular calcium-sensing receptor isoform X1 |
| NM_001178065.2 | NP_001171536.2 | extracellular calcium-sensing receptor isoform 1 precursor |
| XM_006713789.4 | XP_006713852.1 | extracellular calcium-sensing receptor isoform X1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables G protein-coupled receptor activity |
IDA
IDA: Inferred from direct assay
|
27434672 | GOA |
| enables amino acid binding |
IDA
IDA: Inferred from direct assay
|
27434672 | GOA |
| enables calcium ion binding |
IDA
IDA: Inferred from direct assay
|
27434672 | GOA |
| enables identical protein binding |
IPI
IPI: Inferred from physical interaction
|
34194040 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
20361938 | GOA |
| enables protein homodimerization activity |
IDA
IDA: Inferred from direct assay
|
16740594 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in G protein-coupled receptor signaling pathway |
IDA
IDA: Inferred from direct assay
|
27434672 | GOA |
| involved in G protein-coupled receptor signaling pathway |
IMP
IMP: Inferred from mutant phenotype
|
8636323 | GOA |
| involved in calcium ion import |
IDA
IDA: Inferred from direct assay
|
20846291 | GOA |
| involved in detection of calcium ion |
IDA
IDA: Inferred from direct assay
|
27434672 | GOA |
| involved in intracellular calcium ion homeostasis |
IDA
IDA: Inferred from direct assay
|
27434672 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in plasma membrane |
IDA
IDA: Inferred from direct assay
|
8702647 | GOA |
CASR Protein Structure
ANF_receptor: Receptor family ligand binding region (69 - 495)
NCD3G: Nine Cysteines Domain of family 3 GPCR (538 - 591)
7tm_3: 7 transmembrane sweet-taste receptor of 3 GCPR (622 - 860)
- 0
- 200
- 400
- 600
- 800
- 1000
- 1078 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
extracellular calcium-sensing receptor |
|
CASR Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
CASR | P41180 | TMED2 | Homo sapiens | Q15363 | 20361938 |
Recombinant CASR Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P79408 | Calcium-sensing Receptor/CaSR Protein, Human (HEK293, His) | P41180-1 (Y20-K601) | ≥ 95%, as determined by reducing SDS-PAGE. |
CASR Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P86831 | CaSR Antibody (YA6524) | WB, IHC-P, IF-Tissue | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Hypoparathyroidism |
|
|
| Hyperparathyroidism |
|
|
| Insulinoma |
|
|
| Colorectal Cancer |
|
|
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
|
| Gastrinoma |
|
|
| Chronic Kidney Disease |
|
|
| 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency |
|
|
| Pulmonary Hypertension |
|
|
| Phosphorus Metabolism Disease |
|
|
| Bone Disease |
|
|
| Chondrocalcinosis |
|
|
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
|
| Metal Metabolism Disorder |
|
|
| Hyperparathyroidism, Neonatal Severe |
|
|
| Parathyroid Adenoma |
|
|
| Hypercalcemia, Infantile, 1 |
|
|
| Nephrolithiasis |
|
|
| Mineral Metabolism Disease |
|
|
| Nephrogenic Diabetes Insipidus |
|
|
| Pancreatitis |
|
|
| Renal Tubular Transport Disease |
|
|
| Epilepsy |
|
|
| Bartter Disease |
|
|
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
|
| Hypocalcemia, Autosomal Dominant 1 |
|
|
| Hypercalciuria, Absorptive, 2 |
|
|
| Epilepsy, Idiopathic Generalized |
|
|
| Parathyroid Gland Disease |
|
|
| Familial Isolated Hypoparathyroidism |
|
|
| Urolithiasis |
|
|
| Secondary Hyperparathyroidism |
|
|
| Adenoma |
|
|
| Epilepsy, Myoclonic Juvenile |
|
|
| Renal Osteodystrophy |
|
|
| Familial Hypocalciuric Hypercalcemia |
|
|
| Hyperparathyroidism 2 With Jaw Tumors |
|
|
| Autoimmune Polyendocrine Syndrome Type 1 |
|
|
| Basal Ganglia Disease |
|
|
| Gitelman Syndrome |
|
|
| Diabetes Insipidus |
|
|
| Inflammatory Diarrhea |
|
|
| Epilepsy, Idiopathic Generalized 8 |
|
|
| Hyperphosphatemia |
|
|
| Bartter Syndrome, Type 3 |
|
|
| Rickets |
|
|
| Uremia |
|
|
| Osteoporosis |
|
|
| Parathyroid Carcinoma |
|
|
| Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
|
| Primary Hyperparathyroidism |
|
|
| Pancreatitis, Hereditary |
|
|
| Osteitis Fibrosa |
|
|
| Calciphylaxis |
|
|
| Hypertension, Essential |
|
|
| Hypertrophic Cardiomyopathy |
|
|
| Kenny-Caffey Syndrome |
|
|
| Kidney Disease |
|
|
| Basal Ganglia Calcification |
|
|
| Sialolithiasis |
|
|
| Hypoparathyroidism-Deafness-Renal Disease Syndrome |
|
|
| Autoimmune Polyendocrine Syndrome |
|
|
| Diarrhea 1, Secretory Chloride, Congenital |
|
|
| Hypokalemia |
|
|
| Bartter Syndrome, Type 2, Antenatal |
|
|
| Hypocalciuric Hypercalcemia, Familial, Type I |
|
|
| Osteomalacia |
|
|
| Diabetes Mellitus |
|
|
| Sensorineural Hearing Loss |
|
|
| Conn'S Syndrome |
|
|
| Nephrolithiasis, Calcium Oxalate |
|
|
| Multiple Endocrine Neoplasia, Type I |
|
|
| Nephrocalcinosis |
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Bos taurus | CASR | VGNC | VGNC:26788 |
| Rattus norvegicus | CASR | RGD | RGD:2277 |
| Felis catus | CASR | VGNC | VGNC:60388 |
| Canis familiaris | CASR | VGNC | VGNC:38740 |
| Mus musculus | CASR | MGD | MGI:1351351 |
| Macaca mulatta | CASR | VGNC | VGNC:70550 |
| Others | CASR | NCBI |