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CASR calcium-sensing receptor [Homo sapiens (human)]


RefSeq Accession Definition Sequence Price Select
NM_001178065 Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA. Full Length $2254.95
ORF Sequence $1143.45
NM_000388 Homo sapiens calcium-sensing receptor (CASR), transcript variant 2, mRNA. Full Length $1723.40
ORF Sequence $1132.95


Gene Symbol CASR
Entrez Gene ID 846
Full Name calcium-sensing receptor
Synonyms CAR, EIG8, FHH, FIH, GPRC2A, HHC, HHC1, MGC138441, NSHPT, PCAR1
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

3

3q13
Summary The protein encoded by this gene is a G protein-coupled receptor that is expressed in the parathyroid hormone (PTH)-producing chief cells of the parathyroid gland, and the cells lining the kidney tubule. It senses small changes in circulating calcium concentration and couples this information to intracellular signaling pathways that modify PTH secretion or renal cation handling, thus this protein plays an essential role in maintaining mineral ion homeostasis. Mutations in this gene cause familial hypocalciuric hypercalcemia, familial, isolated hypoparathyroidism, and neonatal severe primary hyperparathyroidism. [provided by RefSeq].
Disorder

MIM: 601199

Hypocalciuric hypercalcemia, type I, 145980 (3); Hyperparathyroidism,
mRNA NM_001178065, 296010810
Protein NP_001171536, 296010811
Product extracellular calcium-sensing receptor isoform 1 precursor
RefSeq Status VALIDATED
mRNA NM_000388, 189409146
Protein NP_000379, 37577159
Product extracellular calcium-sensing receptor isoform 2 precursor
RefSeq Status REVIEWED
Pathway Interaction Database
ecadherin_keratinocyte_pathwayE-cadherin signaling in keratinocytes
WikiPathways
WP501GPCRs, Class C Metabotropic glutamate, pheromone
Reactome
REACT_18283G alpha (q) signalling events
REACT_19184GPCR downstream signaling
REACT_18319Class C/3 (Metabotropic glutamate/pheromone receptors)
REACT_21340GPCR ligand binding
REACT_14797Signaling by GPCR
REACT_19231G alpha (i) signalling events
Homo sapiens (human)CASRNP_001171536.1
Pan troglodytes (chimpanzee)CASRXP_001166290.1
Canis lupus familiaris (dog)CASRXP_545129.2
Bos taurus (cattle)CASRNP_776427.1
Mus musculus (house mouse)CasrNP_038831.1
Rattus norvegicus (Norway rat)CasrNP_058692.1
Gallus gallus (chicken)CASRXP_416491.2
Danio rerio (zebrafish)LOC560607XP_689097.1
Process
IDNameEvidence
GO:0001503ossificationIEA
GO:0005513detection of calcium ionTAS
GO:0006874cellular calcium ion homeostasisIEA
GO:0007186G-protein coupled receptor protein signaling pathwayTAS
GO:0007254JNK cascadeIEA
GO:0007635chemosensory behaviorTAS
GO:0008284positive regulation of cell proliferationIEA
GO:0009653anatomical structure morphogenesisTAS
GO:0032781positive regulation of ATPase activityIEA
GO:0042311vasodilationIEA
GO:0051924regulation of calcium ion transportIEA
GO:0070509calcium ion importIDA
Component
IDNameEvidence
GO:0005886plasma membraneEXP
GO:0005886plasma membraneTAS
GO:0005887integral to plasma membraneTAS
GO:0043679axon terminusIEA
Function
IDNameEvidence
GO:0004435phosphatidylinositol phospholipase C activityTAS
GO:0004872receptor activityIEA
GO:0004930G-protein coupled receptor activityIEA
GeneCards CASR
UniProt P41180
MIM 601199
Ensembl ENSG00000036828
HGNC 1514
HPRD 03122

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