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UniProtKB - P41180 (CASR_HUMAN)

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Protein

Extracellular calcium-sensing receptor

Gene

CASR

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

G-protein-coupled receptor that senses changes in the extracellular concentration of calcium ions and plays a key role in maintaining calcium homeostasis (PubMed:7759551, PubMed:8702647, PubMed:8636323, PubMed:8878438, PubMed:17555508, PubMed:19789209, PubMed:21566075, PubMed:22114145, PubMed:23966241, PubMed:25292184, PubMed:25104082, PubMed:26386835, PubMed:25766501, PubMed:22789683). Senses fluctuations in the circulating calcium concentration and modulates the production of parathyroid hormone (PTH) in parathyroid glands (By similarity). The activity of this receptor is mediated by a G-protein that activates a phosphatidylinositol-calcium second messenger system (PubMed:7759551). The G-protein-coupled receptor activity is activated by a co-agonist mechanism: aromatic amino acids, such as Trp or Phe, act concertedly with divalent cations, such as calcium or magnesium, to achieve full receptor activation (PubMed:27434672, PubMed:27386547).By similarity16 Publications

Enzyme regulationi

In resting state, adopts an open conformation, anion-binding promoting the inactive configuration (PubMed:27434672). Upon aromatic amino acid-binding, the groove in the extracellular venus flytrap module is closed, thereby inducing the formation of a novel homodimer interface between subunits (PubMed:27434672, PubMed:27386547). Calcium ions stabilize the active state by enhancing homodimer interactions between membrane-proximal domains to fully activate the receptor (PubMed:27434672, PubMed:27386547). Activated by AMG 416, a D-amino acid-containing peptide agonist that is being evaluated for the treatment of secondary hyperparathyroidism in chronic kidney disease patients receiving hemodialysis (PubMed:26290606). AMG 416 agonist acts by forming a disulfide bond with Cys-482 (PubMed:26290606).3 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi81Calcium; via carbonyl oxygenCombined sources1 Publication1 Publication1
Metal bindingi84CalciumCombined sources1 Publication1 Publication1
Metal bindingi87Calcium; via carbonyl oxygenCombined sources1 Publication1 Publication1
Metal bindingi88Calcium; via carbonyl oxygenCombined sources1 Publication1 Publication1
Metal bindingi100CalciumCombined sources1 Publication1
Metal bindingi145CalciumCombined sources1 Publication1
Binding sitei147Aromatic amino acidCombined sources2 Publications1
Binding sitei168Aromatic amino acid; via carbonyl oxygenCombined sources2 Publications1
Binding sitei170Aromatic amino acidCombined sources2 Publications1
Metal bindingi231CalciumCombined sources1 Publication1
Metal bindingi234CalciumCombined sources1 Publication1
Binding sitei297Aromatic amino acidCombined sources2 Publications1
Sitei482Important for ability of agonist AMG 416 to activate G-protein-coupled receptor activity1 Publication1
Metal bindingi557Calcium; via carbonyl oxygenCombined sources1 Publication1

GO - Molecular functioni

  • amino acid binding Source: UniProtKB
  • calcium ion binding Source: UniProtKB
  • drug binding Source: Ensembl
  • G-protein coupled receptor activity Source: UniProtKB
  • integrin binding Source: Ensembl
  • ion channel binding Source: Ensembl
  • magnesium ion binding Source: Ensembl
  • phosphatidylinositol phospholipase C activity Source: ProtInc
  • polyamine binding Source: Ensembl
  • protein homodimerization activity Source: UniProtKB
  • protein kinase binding Source: Ensembl
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionG-protein coupled receptor, Receptor, Transducer
LigandCalcium, Metal-binding

Enzyme and pathway databases

ReactomeiR-HSA-416476. G alpha (q) signalling events.
R-HSA-418594. G alpha (i) signalling events.
R-HSA-420499. Class C/3 (Metabotropic glutamate/pheromone receptors).
SIGNORiP41180.

Protein family/group databases

TCDBi9.A.14.7.2. the g-protein-coupled receptor (gpcr) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Extracellular calcium-sensing receptorCurated
Short name:
CaR2 Publications
Short name:
CaSR
Short name:
hCasR1 Publication
Alternative name(s):
Parathyroid cell calcium-sensing receptor 11 Publication
Short name:
PCaR11 Publication
Gene namesi
Name:CASRImported
Synonyms:GPRC2A, PCAR11 Publication
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000036828.13.
HGNCiHGNC:1514. CASR.
MIMi601199. gene+phenotype.
neXtProtiNX_P41180.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini20 – 612ExtracellularSequence analysisAdd BLAST593
Transmembranei613 – 635Helical; Name=1Sequence analysisAdd BLAST23
Topological domaini636 – 649CytoplasmicSequence analysisAdd BLAST14
Transmembranei650 – 670Helical; Name=2Sequence analysisAdd BLAST21
Topological domaini671 – 681ExtracellularSequence analysisAdd BLAST11
Transmembranei682 – 700Helical; Name=3Sequence analysisAdd BLAST19
Topological domaini701 – 724CytoplasmicSequence analysisAdd BLAST24
Transmembranei725 – 745Helical; Name=4Sequence analysisAdd BLAST21
Topological domaini746 – 769ExtracellularSequence analysisAdd BLAST24
Transmembranei770 – 792Helical; Name=5Sequence analysisAdd BLAST23
Topological domaini793 – 805CytoplasmicSequence analysisAdd BLAST13
Transmembranei806 – 828Helical; Name=6Sequence analysisAdd BLAST23
Topological domaini829 – 836ExtracellularSequence analysis8
Transmembranei837 – 862Helical; Name=7Sequence analysisAdd BLAST26
Topological domaini863 – 1078CytoplasmicSequence analysisAdd BLAST216

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Hypocalciuric hypercalcemia, familial 1 (HHC1)26 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of hypocalciuric hypercalcemia, a disorder of mineral homeostasis that is transmitted as an autosomal dominant trait with a high degree of penetrance. It is characterized biochemically by lifelong elevation of serum calcium concentrations and is associated with inappropriately low urinary calcium excretion and a normal or mildly elevated circulating parathyroid hormone level. Hypermagnesemia is typically present. Affected individuals are usually asymptomatic and the disorder is considered benign. However, chondrocalcinosis and pancreatitis occur in some adults.
See also OMIM:145980
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05804611L → S in HHC1; demonstrates reduced intracellular and plasma membrane expression and signaling to the MAPK pathway in response to extracellular calcium relative to wild-type; fails to be inserted in the microsomes and does not undergo proper glycosylation. 1 PublicationCorresponds to variant dbSNP:rs200673016Ensembl.1
Natural variantiVAR_05804713L → P in HHC1; has a dose-response curve shifted to the right relative to that of wild-type; demonstrates reduced intracellular and plasma membrane expression and signaling to the MAPK pathway in response to extracellular calcium relative to wild-type; fails to be inserted in the microsomes and does not undergo proper glycosylation. 2 PublicationsCorresponds to variant dbSNP:rs104893717Ensembl.1
Natural variantiVAR_05804921G → R in HHC1. 1 Publication1
Natural variantiVAR_00358539P → A in HHC1. 1 PublicationCorresponds to variant dbSNP:rs121909262Ensembl.1
Natural variantiVAR_07813942F → S in HHC1. 1 Publication1
Natural variantiVAR_07814053S → P in HHC1; decreased G-protein coupled receptor signaling pathway. 1 Publication1
Natural variantiVAR_07814155P → L in HHC1; decreased G-protein coupled receptor signaling pathway. 3 PublicationsCorresponds to variant dbSNP:rs886041154Ensembl.1
Natural variantiVAR_00358662R → M in HHC1; mild; decreased G-protein coupled receptor signaling pathway. 2 PublicationsCorresponds to variant dbSNP:rs121909265Ensembl.1
Natural variantiVAR_00358766R → C in HHC1; does not affect homodimerization; impaired N-glycosylation; impaired cell membrane localization; decreased G-protein coupled receptor signaling pathway. 3 PublicationsCorresponds to variant dbSNP:rs121909266Ensembl.1
Natural variantiVAR_07814266R → H in HHC1; does not affect homodimerization; impaired N-glycosylation; impaired cell membrane localization; decreased G-protein coupled receptor signaling pathway. 3 Publications1
Natural variantiVAR_07814381I → M in HHC1; decreased G-protein coupled receptor signaling pathway. 2 Publications1
Natural variantiVAR_078144110A → T in HHC1; decreased G-protein coupled receptor signaling pathway. 1 Publication1
Natural variantiVAR_003590138T → M in HHC1; decreased G-protein coupled receptor signaling pathway. 3 PublicationsCorresponds to variant dbSNP:rs121909263Ensembl.1
Natural variantiVAR_003591143G → E in HHC1; decreased G-protein coupled receptor signaling pathway. 2 PublicationsCorresponds to variant dbSNP:rs121909264Ensembl.1
Natural variantiVAR_078149143G → R in HHC1. 1 PublicationCorresponds to variant dbSNP:rs769256610Ensembl.1
Natural variantiVAR_078150158G → R in HHC1. 1 Publication1
Natural variantiVAR_078151159L → P in HHC1; decreased G-protein coupled receptor signaling pathway. 2 Publications1
Natural variantiVAR_078152166S → G in HHC1. 1 PublicationCorresponds to variant dbSNP:rs193922441Ensembl.1
Natural variantiVAR_058056171S → N in HHC1. 1 Publication1
Natural variantiVAR_078153172R → G in HHC1; decreased G-protein coupled receptor signaling pathway. 2 Publications1
Natural variantiVAR_003592174L → R in HHC1. 1 Publication1
Natural variantiVAR_078154178N → D in HHC1; decreased G-protein coupled receptor signaling pathway. 1 Publication1
Natural variantiVAR_058057180F → C in HHC1; although the mutant receptor is expressed normally at the cell surface it is unresponsive with respect to intracellular signaling (MAPK activation) to increases in extracellular calcium concentrations. 1 PublicationCorresponds to variant dbSNP:rs121909268Ensembl.1
Natural variantiVAR_003593185R → Q in HHC1; decreased G-protein coupled receptor signaling pathway. 3 PublicationsCorresponds to variant dbSNP:rs104893689Ensembl.1
Natural variantiVAR_078155215D → G in HHC1; decreased G-protein coupled receptor signaling pathway. 2 Publications1
Natural variantiVAR_078156220R → W in HHC1. 1 Publication1
Natural variantiVAR_058059221P → Q in HHC1. 1 PublicationCorresponds to variant dbSNP:rs397514728Ensembl.1
Natural variantiVAR_078158221P → S in HHC1; decreased G-protein coupled receptor signaling pathway. 1 Publication1
Natural variantiVAR_058060225K → T in HHC1. 1 Publication1
Natural variantiVAR_003595227R → Q in HHC1; G-protein coupled receptor signaling pathway; less markedly impaired relative to wild-type than L-227; does not affect cell membrane localization. 2 PublicationsCorresponds to variant dbSNP:rs28936684Ensembl.1
Natural variantiVAR_058062271S → F in HHC1. 1 Publication1
Natural variantiVAR_003596297E → K in HHC1; decreased G-protein coupled receptor signaling pathway. 3 PublicationsCorresponds to variant dbSNP:rs121909259Ensembl.1
Natural variantiVAR_058063397G → R in HHC1. 1 Publication1
Natural variantiVAR_078160459Q → R in HHC1; decreased G-protein coupled receptor signaling pathway; does not affect cell membrane localization. 1 Publication1
Natural variantiVAR_058064465R → Q in HHC1; loss-of-function mutation; the quantity of the mutant receptor is higher than that of the wild-type receptor; dose-response curves show that the mutation significantly reduces the sensitivity of the receptor to extracellular calcium concentrations. 1 PublicationCorresponds to variant dbSNP:rs104893716Ensembl.1
Natural variantiVAR_058065509G → R in HHC1. 1 PublicationCorresponds to variant dbSNP:rs193922423Ensembl.1
Natural variantiVAR_078161549G → R in HHC1. 1 Publication1
Natural variantiVAR_078162550T → I in HHC1; decreased G-protein coupled receptor signaling pathway. 1 Publication1
Natural variantiVAR_058066553G → R in HHC1. 1 PublicationCorresponds to variant dbSNP:rs104893719Ensembl.1
Natural variantiVAR_058067555I → V in HHC1. 1 PublicationCorresponds to variant dbSNP:rs777646067Ensembl.1
Natural variantiVAR_012649557G → E in HHC1; Abolished G-protein coupled receptor activity. 2 Publications1
Natural variantiVAR_058068562C → Y in HHC1. 2 Publications1
Natural variantiVAR_078164565C → G in HHC1. 1 Publication1
Natural variantiVAR_078166571G → W in HHC1; decreased G-protein coupled receptor signaling pathway; does not affect cell membrane localization. 1 Publication1
Natural variantiVAR_058069582C → F in HHC1. 1 PublicationCorresponds to variant dbSNP:rs104893690Ensembl.1
Natural variantiVAR_078167583 – 1078Missing in HHC1; impaired homodimerization; impaired cell membrane localization. 2 PublicationsAdd BLAST496
Natural variantiVAR_058072623G → D in HHC1. 1 Publication1
Natural variantiVAR_078168657S → Y in HHC1. 1 Publication1
Natural variantiVAR_078169661C → Y in HHC1. 1 Publication1
Natural variantiVAR_058074670G → R in HHC1. 1 Publication1
Natural variantiVAR_078170680R → H in HHC1. 1 PublicationCorresponds to variant dbSNP:rs773146939Ensembl.1
Natural variantiVAR_065494697V → M in HHC1. 1 Publication1
Natural variantiVAR_078172707E → V in HHC1; decreased protein level. 1 Publication1
Natural variantiVAR_058076728V → F in HHC1. 1 Publication1
Natural variantiVAR_058077742W → R in HHC1. 1 Publication1
Natural variantiVAR_078173748P → R in HHC1. 1 Publication1
Natural variantiVAR_078174761Missing in HHC1. 1 Publication1
Natural variantiVAR_078175774G → S in HHC1; decreased G-protein coupled receptor signaling pathway; does not affect cell membrane localization. 1 Publication1
Natural variantiVAR_003599795R → W in HHC1; decreased G-protein coupled receptor signaling pathway. 4 PublicationsCorresponds to variant dbSNP:rs121909258Ensembl.1
Natural variantiVAR_078177802N → S in HHC1; decreased G-protein coupled receptor signaling pathway. 1 PublicationCorresponds to variant dbSNP:rs140022350Ensembl.1
Natural variantiVAR_078178817V → I in HHC1; decreased G-protein coupled receptor signaling pathway. 1 PublicationCorresponds to variant dbSNP:rs1057518933Ensembl.1
Natural variantiVAR_058084886R → W in HHC1. 1 Publication1
Natural variantiVAR_078183972T → M in HHC1; decreased G-protein coupled receptor signaling pathway. 1 PublicationCorresponds to variant dbSNP:rs200620134Ensembl.1
Hyperparathyroidism, neonatal severe (NSHPT)7 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by severe hypercalcemia, bone demineralization, and failure to thrive usually manifesting in the first 6 months of life. If untreated, NSHPT can be a devastating neurodevelopmental disorder, which in some cases is lethal without parathyroidectomy.
See also OMIM:239200
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_065199100T → I in NSHPT; Abolished G-protein coupled receptor activity. 2 Publications1
Natural variantiVAR_003594227R → L in NSHPT; decreased G-protein coupled receptor signaling pathway; does not affect cell membrane localization. 4 PublicationsCorresponds to variant dbSNP:rs28936684Ensembl.1
Natural variantiVAR_065200336Missing in NSHPT. 1 Publication1
Natural variantiVAR_078163551R → K in NSHPT; decreased G-protein coupled receptor signaling pathway; does not affect cell membrane localization. 2 Publications1
Natural variantiVAR_065202650L → P in NSHPT. 1 Publication1
Natural variantiVAR_058073670G → E in NSHPT. 1 PublicationCorresponds to variant dbSNP:rs104893700Ensembl.1
Natural variantiVAR_065203689V → M in NSHPT. 1 Publication1
Hypocalcemia, autosomal dominant 1 (HYPOC1)21 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder of mineral homeostasis characterized by blood calcium levels below normal, and low or normal serum parathyroid hormone concentrations. Disease manifestations include mild or asymptomatic hypocalcemia, paresthesias, carpopedal spasm, seizures, hypercalciuria with nephrocalcinosis or kidney stones, and ectopic and basal ganglia calcifications. Few patients manifest hypocalcemia and features of Bartter syndrome, including hypomagnesemia, hypokalemia, metabolic alkalosis, hyperreninemia, and hyperaldosteronemia.
See also OMIM:601198
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05805047K → N in HYPOC1; the EC(50) of the mutant is significantly lower than that of wild-type. 1 PublicationCorresponds to variant dbSNP:rs104893702Ensembl.1
Natural variantiVAR_003588116A → T in HYPOC1. 1 PublicationCorresponds to variant dbSNP:rs104893691Ensembl.1
Natural variantiVAR_058051118N → K in HYPOC1; the mutation shifts the concentration-response curve to the left and increases maximal activity. 3 PublicationsCorresponds to variant dbSNP:rs104893695Ensembl.1
Natural variantiVAR_078145122S → C in HYPOC1; increased G-protein coupled receptor signaling pathway. 1 Publication1
Natural variantiVAR_078146125L → F in HYPOC1. 1 Publication1
Natural variantiVAR_058052125L → P in HYPOC1; shifts the concentration-response curve of calcium ions to the left. 1 PublicationCorresponds to variant dbSNP:rs104893708Ensembl.1
Natural variantiVAR_003589127E → A in HYPOC1; increased G-protein coupled receptor signaling pathway. 2 PublicationsCorresponds to variant dbSNP:rs121909260Ensembl.1
Natural variantiVAR_058053128F → L in HYPOC1; increased G-protein coupled receptor signaling pathway. 2 PublicationsCorresponds to variant dbSNP:rs104893696Ensembl.1
Natural variantiVAR_078147129C → R in HYPOC1. 1 Publication1
Natural variantiVAR_058054131C → W in HYPOC1; associated with clinical features of Bartter syndrome. 1 PublicationCorresponds to variant dbSNP:rs121909267Ensembl.1
Natural variantiVAR_078148136P → L in HYPOC1; increased G-protein coupled receptor signaling pathway; does not affect cell membrane localization. 1 Publication1
Natural variantiVAR_058055151T → M in HYPOC1; increased G-protein coupled receptor signaling pathway. 3 PublicationsCorresponds to variant dbSNP:rs104893694Ensembl.1
Natural variantiVAR_058058191E → K in HYPOC1; increased G-protein coupled receptor signaling pathway. 2 PublicationsCorresponds to variant dbSNP:rs104893697Ensembl.1
Natural variantiVAR_078157221P → L in HYPOC1. 1 PublicationCorresponds to variant dbSNP:rs397514728Ensembl.1
Natural variantiVAR_078159228E → K in HYPOC1. 1 Publication1
Natural variantiVAR_078165569P → H in HYPOC1; increased G-protein coupled receptor signaling pathway. 1 Publication1
Natural variantiVAR_058070604E → K in HYPOC1; there is a significant leftward shift in the concentration response curves for the effects of extracellular calcium on both intracellular calcium mobilization and MAPK activity. 2 PublicationsCorresponds to variant dbSNP:rs104893712Ensembl.1
Natural variantiVAR_058071612F → S in HYPOC1. 1 PublicationCorresponds to variant dbSNP:rs104893698Ensembl.1
Natural variantiVAR_015414616L → V in HYPOC1; does not affect the total accumulation of inositol phosphates as a function of extracellular calcium concentrations in transfected cells. 1 PublicationCorresponds to variant dbSNP:rs104893703Ensembl.1
Natural variantiVAR_003598681Q → H in HYPOC1. 1 PublicationCorresponds to variant dbSNP:rs121909261Ensembl.1
Natural variantiVAR_078171681Q → R in HYPOC1; increased G-protein coupled receptor signaling pathway; does not affect cell membrane localization. 1 Publication1
Natural variantiVAR_058075727L → Q in HYPOC1; increased G-protein coupled receptor signaling pathway; does not affect cell membrane localization. 2 PublicationsCorresponds to variant dbSNP:rs104893718Ensembl.1
Natural variantiVAR_021019767E → K in HYPOC1. 1 Publication1
Natural variantiVAR_058078773L → R in HYPOC1; the mutation shifts the concentration-response curve to the left and increases maximal activity. 1 PublicationCorresponds to variant dbSNP:rs104893699Ensembl.1
Natural variantiVAR_058079788F → C in HYPOC1; leftward shift in the concentration-response curve for the mutant receptor; cells cotransfected with both the wild-type and the mutant receptor show an EC(50) similar to the mutant; a gain-of-function mutation rendering the receptor more sensitive than normal to activation. 1 PublicationCorresponds to variant dbSNP:rs104893701Ensembl.1
Natural variantiVAR_058080788F → L in HYPOC1; induces a significant shift to the left relative to the wild-type protein in the MAPK response to increasing extracellular calcium concentrations. 1 PublicationCorresponds to variants dbSNP:rs886041537 and dbSNP:rs104893711EnsemblEnsembl.1
Natural variantiVAR_078176802N → I in HYPOC1; increased G-protein coupled receptor signaling pathway. 2 Publications1
Natural variantiVAR_003600806F → S in HYPOC1; does not produce a significant activating effect; decreased cell surface receptor expression. 2 PublicationsCorresponds to variant dbSNP:rs104893693Ensembl.1
Natural variantiVAR_058081820S → F in HYPOC1; the concentration-response curve of the mutant receptor is left-shifted and its EC(50) is significantly lower than that of the wild-type. 1 PublicationCorresponds to variant dbSNP:rs104893710Ensembl.1
Natural variantiVAR_078179830G → S in HYPOC1. 1 Publication1
Natural variantiVAR_078180832F → L in HYPOC1. 1 Publication1
Natural variantiVAR_078181832F → S in HYPOC1. 1 Publication1
Natural variantiVAR_078182839I → T in HYPOC1; increased G-protein coupled receptor signaling pathway. 1 Publication1
Natural variantiVAR_058082843A → E in HYPOC1; also in HYPOC1 associated with clinical features of Bartter syndrome; shifts the concentration-response curve of calcium ions to the left. 2 PublicationsCorresponds to variant dbSNP:rs104893706Ensembl.1
Epilepsy, idiopathic generalized 8 (EIG8)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Seizure types are variable, but include myoclonic seizures, absence seizures, febrile seizures, complex partial seizures, and generalized tonic-clonic seizures.
See also OMIM:612899
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_060206354E → A in EIG8; patients present juvenile myoclonus epilepsy. 1 Publication1
Natural variantiVAR_060207686I → V in EIG8; patients present juvenile myoclonus epilepsy. 1 PublicationCorresponds to variant dbSNP:rs753013993Ensembl.1
Natural variantiVAR_060208898R → Q in EIG8. 1 PublicationCorresponds to variant dbSNP:rs121909269Ensembl.1
Natural variantiVAR_060209988A → G in EIG8; patients present juvenile myoclonus epilepsy. 1 Publication1
Natural variantiVAR_060210988A → V in EIG8; patients present juvenile myoclonus epilepsy. 1 PublicationCorresponds to variant dbSNP:rs759027000Ensembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi69R → E: Abolishes G-protein coupled receptor signaling pathway. 1 Publication1
Mutagenesisi102N → I: Abolishes G-protein coupled receptor activity. 1 Publication1
Mutagenesisi145T → A: Abolishes G-protein coupled receptor activity. 1 Publication1
Mutagenesisi147S → A: Nearly abolished G-protein coupled receptor activity. 1 Publication1
Mutagenesisi170S → A: Abolishes G-protein coupled receptor activity. 1 Publication1
Mutagenesisi218Y → S: Abolishes G-protein coupled receptor activity. 1 Publication1
Mutagenesisi297E → I: Abolishes ability to sense calcium or magnesium levels. 1 Publication1
Mutagenesisi417S → L: Abolishes G-protein coupled receptor signaling pathway. 1 Publication1
Mutagenesisi458W → A: Decreased G-protein coupled receptor signaling pathway. 1 Publication1
Mutagenesisi482C → S or Y: Abolishes ability of agonist AMG 416 to activate G-protein-coupled receptor activity. 1 Publication1

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

DisGeNETi846.
MalaCardsiCASR.
MIMi145980. phenotype.
239200. phenotype.
601198. phenotype.
601199. gene+phenotype.
612899. phenotype.
OpenTargetsiENSG00000036828.
Orphaneti428. Autosomal dominant hypocalcemia.
263417. Bartter syndrome with hypocalcemia.
93372. Familial hypocalciuric hypercalcemia type 1.
189466. Familial isolated hypoparathyroidism due to impaired PTH secretion.
417. Neonatal severe primary hyperparathyroidism.
PharmGKBiPA26097.

Chemistry databases

ChEMBLiCHEMBL1878.
DrugBankiDB05255. 751689.
DB01012. Cinacalcet.
DB12865. Etelcalcetide.
GuidetoPHARMACOLOGYi54.

Polymorphism and mutation databases

BioMutaiCASR.
DMDMi1168781.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 19Sequence analysisAdd BLAST19
ChainiPRO_000001294620 – 1078Extracellular calcium-sensing receptorAdd BLAST1059

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi60 ↔ 101Combined sources2 Publications
Glycosylationi90N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi129Interchain1 Publication1 Publication
Glycosylationi130N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi131Interchain1 Publication1 Publication
Disulfide bondi236 ↔ 5611 Publication
Glycosylationi261N-linked (GlcNAc...) asparagineSequence analysis1 Publication1
Glycosylationi287N-linked (GlcNAc...) asparagineSequence analysis1 Publication1
Disulfide bondi358 ↔ 395Combined sources2 Publications
Glycosylationi386N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi400N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi437 ↔ 449Combined sources2 Publications
Glycosylationi446N-linked (GlcNAc...) asparagineSequence analysis1 Publication1
Glycosylationi468N-linked (GlcNAc...) asparagineSequence analysis1 Publication1
Glycosylationi488N-linked (GlcNAc...) asparagineSequence analysis1 Publication1
Glycosylationi541N-linked (GlcNAc...) asparagineSequence analysis1 Publication1
Disulfide bondi542 ↔ 5621 Publication
Disulfide bondi546 ↔ 5651 Publication
Disulfide bondi568 ↔ 5821 Publication
Disulfide bondi585 ↔ 5981 Publication
Glycosylationi594N-linked (GlcNAc...) asparagineSequence analysis1 Publication1
Modified residuei920PhosphoserineBy similarity1
Modified residuei1061PhosphoserineBy similarity1

Post-translational modificationi

N-glycosylated.5 Publications