CASR (calcium sensing receptor) - Rat Genome Database
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Gene: CASR (calcium sensing receptor) Homo sapiens
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Symbol: CASR
Name: calcium sensing receptor
RGD ID: 10291
HGNC Page HGNC
Description: Exhibits several functions, including amino acid binding activity; calcium ion binding activity; and protein homodimerization activity. Involved in several processes, including calcium ion import; cellular calcium ion homeostasis; and detection of calcium ion. Localizes to integral component of plasma membrane. Implicated in several diseases, including autosomal dominant hypocalcemia (multiple); hypercalcemia (multiple); hyperparathyroidism (multiple); idiopathic generalized epilepsy 8; and nephrolithiasis (multiple). Biomarker of atherosclerosis; end stage renal disease; and secondary hyperparathyroidism.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: calcium-sensing receptor; CAR; EIG8; extracellular calcium-sensing receptor; FHH; FIH; GPRC2A; hCasR; HHC; HHC1; HYPOC1; MGC138441; NSHPT; parathyroid Ca(2+)-sensing receptor 1; parathyroid cell calcium-sensing receptor; parathyroid cell calcium-sensing receptor 1; PCAR1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: VN2R17P   VN2R18P   VN2R19P   VN2R1P   VN2R3P   VN2R6P   VN2R7P   VN2R9P  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl3122,183,668 - 122,291,629 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl3122,183,683 - 122,291,629 (+)EnsemblGRCh38hg38GRCh38
GRCh383122,183,668 - 122,291,629 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh373121,902,515 - 122,010,476 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363123,385,220 - 123,488,032 (+)NCBINCBI36hg18NCBI36
Build 343123,385,219 - 123,488,032NCBI
Celera3120,312,793 - 120,414,980 (+)NCBI
Cytogenetic Map3q13.33-q21.1NCBI
HuRef3119,276,062 - 119,378,878 (+)NCBIHuRef
CHM1_13121,866,087 - 121,968,904 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway  (IEA,ISO)
anatomical structure morphogenesis  (TAS)
apoptotic process  (IEA,ISO)
bile acid secretion  (IEA,ISO)
branching morphogenesis of an epithelial tube  (IEA,ISO)
calcium ion import  (IDA)
cellular calcium ion homeostasis  (IBA,IDA,ISO)
cellular response to glucose stimulus  (IEA,ISO)
cellular response to hepatocyte growth factor stimulus  (IEA,ISO)
cellular response to hypoxia  (IEA,ISO)
cellular response to low-density lipoprotein particle stimulus  (IEA,ISO)
cellular response to peptide  (IEA,ISO)
cellular response to vitamin D  (IEA,ISO)
chemosensory behavior  (TAS)
chloride transmembrane transport  (IEA,ISO)
detection of calcium ion  (IBA,IDA,ISO)
fat pad development  (IEA,ISO)
G protein-coupled receptor signaling pathway  (IDA,IEA,IMP,TAS)
JNK cascade  (IEA,ISO)
ossification  (IEA,ISO)
phospholipase C-activating G protein-coupled receptor signaling pathway  (IEA,ISO)
positive regulation of ATPase activity  (IEA,ISO)
positive regulation of calcium ion import  (IEA,ISO)
positive regulation of cell population proliferation  (IEA,ISO)
positive regulation of ERK1 and ERK2 cascade  (IEA,ISO)
positive regulation of gene expression  (IEA,ISO)
positive regulation of insulin secretion  (IEA,ISO)
positive regulation of positive chemotaxis  (IEA,ISO)
positive regulation of vasoconstriction  (IEA,ISO)
regulation of calcium ion transport  (IBA,ISO)
response to calcium ion  (ISO)
response to fibroblast growth factor  (IEA,ISO)
response to ischemia  (IEA,ISO)
response to metal ion  (ISO)
response to organic cyclic compound  (ISO)
vasodilation  (IEA,ISO)

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal pain  (IAGP)
Abnormal calcium-phosphate regulating hormone level  (IAGP)
Abnormal enzyme/coenzyme activity  (IAGP)
Abnormal fingernail morphology  (IAGP)
Abnormal pattern of respiration  (IAGP)
Abnormal renal morphology  (IAGP)
Abnormal renal physiology  (IAGP)
Abnormality of the metaphysis  (IAGP)
Abnormality of the parathyroid physiology  (IAGP)
Abnormality of the thyroid gland  (IAGP)
Abnormality of urine calcium concentration  (IAGP)
Alopecia  (IAGP)
Aminoaciduria  (IAGP)
Anemia  (IAGP)
Anxiety  (IAGP)
Arrhythmia  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Basal ganglia calcification  (IAGP)
Breast carcinoma  (IAGP)
Calcinosis  (IAGP)
Congestive heart failure  (IAGP)
Constipation  (IAGP)
Cortical myoclonus  (IAGP)
Depressivity  (IAGP)
Diabetes mellitus  (IAGP)
Dry skin  (IAGP)
Dyspnea  (IAGP)
Eczema  (IAGP)
Elevated C-reactive protein level  (IAGP)
Elevated circulating parathyroid hormone level  (IAGP)
EMG abnormality  (IAGP)
Emotional lability  (IAGP)
Failure to thrive  (IAGP)
Fatigable weakness  (IAGP)
Feeding difficulties in infancy  (IAGP)
Generalized hypotonia  (IAGP)
Global developmental delay  (IAGP)
Hepatomegaly  (IAGP)
Hypercalcemia  (IAGP)
Hypercalciuria  (IAGP)
Hypermagnesemia  (IAGP)
Hypermagnesiuria  (IAGP)
Hyperparathyroidism  (IAGP)
Hyperphosphatemia  (IAGP)
Hyperphosphaturia  (IAGP)
Hypocalcemia  (IAGP)
Hypocalciuria  (IAGP)
Hypokalemia  (IAGP)
Hypomagnesemia  (IAGP)
Hypophosphatemia  (IAGP)
Hypotension  (IAGP)
Hypotonia  (IAGP)
Increased circulating renin level  (IAGP)
Increased intracranial pressure  (IAGP)
Irregular hyperpigmentation  (IAGP)
Jaundice  (IAGP)
Laryngospasm  (IAGP)
Leukocytosis  (IAGP)
Metaphyseal irregularity  (IAGP)
Muscle spasm  (IAGP)
Narrow chest  (IAGP)
Nephrocalcinosis  (IAGP)
Nephrolithiasis  (IAGP)
Neurodevelopmental abnormality  (IAGP)
Optic atrophy  (IAGP)
Pancreatic calcification  (IAGP)
Pancreatitis  (IAGP)
Parathyroid adenoma  (IAGP)
Paresthesia  (IAGP)
Polydipsia  (IAGP)
Polyuria  (IAGP)
Primary hyperparathyroidism  (IAGP)
Prostate cancer  (IAGP)
Recurrent fractures  (IAGP)
Recurrent pancreatitis  (IAGP)
Reduced bone mineral density  (IAGP)
Reduced consciousness/confusion  (IAGP)
Seizure  (IAGP)
Short stature  (IAGP)
Splanchnic vein thrombosis  (IAGP)
Splenomegaly  (IAGP)
Tachypnea  (IAGP)
Tetany  (IAGP)
Writer's cramp  (IAGP)
References