Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	846
Gene name	Calcium sensing receptor
Gene symbol	CASR
Synonyms (NCBI Gene)	CAREIG8FHHFIHGPRC2AHHCHHC1HYPOC1NSHPTPCAR1hCasR
Chromosome	3
Chromosome location	3q13.33-q21.1
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 hormo

133

Show/Hide all (133)

SNP ID	Visualize variation	Clinical significance	Consequence
rs28936684	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs61733590	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, 5 prime UTR variant, synonymous variant
rs62269092	G>A	Benign-likely-benign, conflicting-interpretations-of-pathogenicity, likely-benign, benign	Coding sequence variant, missense variant
rs104893689	G>A,C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs104893690	G>A,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs104893691	G>A	Pathogenic	Missense variant, intron variant, coding sequence variant
rs104893693	T>A,C	Pathogenic	Missense variant, coding sequence variant
rs104893694	C>T	Pathogenic	Missense variant, intron variant, coding sequence variant
rs104893695	C>A	Pathogenic	Missense variant, intron variant, coding sequence variant
rs104893696	T>C	Pathogenic	Missense variant, intron variant, coding sequence variant
rs104893697	G>A	Pathogenic	Missense variant, coding sequence variant
rs104893698	T>C	Pathogenic	Missense variant, coding sequence variant
rs104893699	T>G	Pathogenic	Missense variant, coding sequence variant
rs104893700	G>A	Pathogenic	Missense variant, coding sequence variant
rs104893701	T>G	Pathogenic	Missense variant, coding sequence variant
rs104893702	A>C	Pathogenic	5 prime UTR variant, missense variant, coding sequence variant
rs104893703	C>G	Pathogenic	Missense variant, coding sequence variant
rs104893704	T>C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs104893705	C>A,G,T	Pathogenic, likely-benign	Stop gained, missense variant, synonymous variant, coding sequence variant
rs104893706	C>A	Pathogenic	Missense variant, coding sequence variant
rs104893707	C>A,T	Pathogenic, likely-benign	Stop gained, synonymous variant, coding sequence variant
rs104893708	T>C	Pathogenic	Missense variant, intron variant, coding sequence variant
rs104893709	G>T	Pathogenic	Stop gained, intron variant, coding sequence variant
rs104893710	C>T	Pathogenic	Missense variant, coding sequence variant
rs104893711	T>C	Pathogenic	Missense variant, coding sequence variant
rs104893712	G>A	Pathogenic	Missense variant, coding sequence variant
rs104893716	G>A,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs104893717	T>C	Pathogenic	Genic upstream transcript variant, missense variant, upstream transcript variant, coding sequence variant
rs104893718	T>A	Pathogenic	Missense variant, coding sequence variant
rs104893719	G>A	Pathogenic	Missense variant, coding sequence variant
rs115230894	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Missense variant, coding sequence variant
rs121909258	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121909259	G>A	Pathogenic	Missense variant, coding sequence variant
rs121909260	A>C,G	Pathogenic, likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs121909261	G>T	Pathogenic	Missense variant, coding sequence variant
rs121909262	C>G,T	Pathogenic	5 prime UTR variant, missense variant, coding sequence variant
rs121909263	C>T	Pathogenic, likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs121909264	G>A	Pathogenic, likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs121909265	G>T	Pathogenic	Missense variant, coding sequence variant
rs121909266	C>T	Pathogenic, likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs121909267	C>G	Pathogenic	Missense variant, intron variant, coding sequence variant
rs121909268	T>G	Pathogenic	Missense variant, coding sequence variant
rs121909269	G>A	Risk-factor, uncertain-significance	Missense variant, coding sequence variant
rs140022350	A>G	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs142704083	G>A	Conflicting-interpretations-of-pathogenicity, benign, benign-likely-benign, uncertain-significance	Missense variant, coding sequence variant
rs142745096	T>C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs147307274	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs150412204	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs150869744	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs193922419	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs193922421	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs193922422	GTTT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs193922423	G>A	Pathogenic	Coding sequence variant, missense variant
rs193922424	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs193922425	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs193922426	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs193922427	GC>CT	Likely-pathogenic	Coding sequence variant, missense variant
rs193922429	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs193922430	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs193922431	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs193922432	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, intron variant
rs193922433	C>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs193922435	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs193922436	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs193922437	A>T	Likely-pathogenic	Coding sequence variant, stop gained
rs193922439	A>C	Likely-pathogenic	Coding sequence variant, missense variant, intron variant
rs193922442	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs193922444	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs199594582	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs201091657	G>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs201177696	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs201564143	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, synonymous variant, upstream transcript variant
rs201633414	C>A,T	Pathogenic, pathogenic-likely-pathogenic	Synonymous variant, upstream transcript variant, stop gained, coding sequence variant, genic upstream transcript variant
rs201851934	A>C,G	Pathogenic, likely-benign	Coding sequence variant, synonymous variant, missense variant
rs201852643	G>A,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs201858689	G>T	Pathogenic	Coding sequence variant, missense variant
rs397514728	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs397514729	A>G	Pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant, upstream transcript variant
rs746515147	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, synonymous variant
rs751217000	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs755277801	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs767363250	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs773146939	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs794729230	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs797044441	G>T	Pathogenic	Splice acceptor variant, intron variant
rs869320729	CC>T	Pathogenic	Frameshift variant, coding sequence variant
rs886041154	C>T	Pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs886041537	C>G	Pathogenic	Missense variant, coding sequence variant
rs886041637	C>T	Pathogenic	Stop gained, coding sequence variant
rs886041823	G>-,GG	Pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant
rs1057517712	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1057518616	G>A,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1057518933	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1057520557	G>T	Pathogenic	Stop gained, coding sequence variant
rs1057520583	T>G	Pathogenic	Missense variant, coding sequence variant
rs1057520646	G>T	Pathogenic	Stop gained, coding sequence variant
rs1057520791	G>A,C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs1057521129	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1057523748	A>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1060502842	G>A,C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1060502847	CG>TT	Pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs1060502855	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1064793353	G>CC	Pathogenic	Frameshift variant, coding sequence variant
rs1064793992	C>T	Pathogenic	Stop gained, coding sequence variant
rs1085307984	C>A,G,T	Pathogenic, likely-pathogenic	Stop gained, missense variant, synonymous variant, coding sequence variant
rs1131691620	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1202110240	G>A	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1276839362	G>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, intron variant, missense variant
rs1482119762	C>A,T	Pathogenic, not-provided	Missense variant, coding sequence variant, synonymous variant
rs1553731681	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1553766262	C>A	Pathogenic	Missense variant, intron variant, coding sequence variant
rs1553766768	C>T	Pathogenic	Stop gained, coding sequence variant
rs1553766794	GA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553768726	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1553768938	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553768972	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553769004	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553769059	G>CC,GG	Likely-pathogenic, benign	Frameshift variant, coding sequence variant
rs1553769169	CTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTT	Pathogenic	Inframe deletion, coding sequence variant
rs1559956508	G>TTCGCT	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1559956616	T>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1559956683	AGAGCACATTCCCTC>-	Pathogenic	Intron variant, inframe deletion, coding sequence variant
rs1559959758	C>T	Pathogenic	Stop gained, coding sequence variant
rs1559968729	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1576854561	->TC	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1576857818	A>G	Likely-pathogenic	Splice acceptor variant
rs1576857840	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1576859379	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1576875835	G>A	Pathogenic	Missense variant, coding sequence variant
rs1576875919	G>T	Pathogenic	Splice donor variant
rs1576877163	->G	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1576877427	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1576878011	G>A	Likely-pathogenic	Coding sequence variant, stop gained

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miRTarBase ID	miRNA	Experiments	Reference
MIRT004597	hsa-miR-31-5p	LacZ assay	20145132
MIRT007298	hsa-miR-135b-5p	Western blot	23340180
MIRT007298	hsa-miR-135b-5p	Luciferase reporter assay	25320245
MIRT007298	hsa-miR-135b-5p	Immunofluorescence	26178670
MIRT864268	hsa-miR-134	CLIP-seq
MIRT864269	hsa-miR-2964a-5p	CLIP-seq
MIRT864270	hsa-miR-3118	CLIP-seq
MIRT864271	hsa-miR-3130-3p	CLIP-seq
MIRT864272	hsa-miR-3164	CLIP-seq
MIRT864273	hsa-miR-3650	CLIP-seq
MIRT864274	hsa-miR-3658	CLIP-seq
MIRT864275	hsa-miR-4426	CLIP-seq
MIRT864276	hsa-miR-4647	CLIP-seq
MIRT864277	hsa-miR-4662b	CLIP-seq
MIRT864278	hsa-miR-4729	CLIP-seq
MIRT864279	hsa-miR-4793-3p	CLIP-seq
MIRT864280	hsa-miR-516b	CLIP-seq
MIRT864281	hsa-miR-616	CLIP-seq
MIRT864282	hsa-miR-622	CLIP-seq
MIRT864283	hsa-miR-105	CLIP-seq
MIRT864284	hsa-miR-1262	CLIP-seq
MIRT864285	hsa-miR-140-3p	CLIP-seq
MIRT864286	hsa-miR-374c	CLIP-seq
MIRT864287	hsa-miR-4701-3p	CLIP-seq
MIRT864288	hsa-miR-514	CLIP-seq
MIRT864289	hsa-miR-514b-3p	CLIP-seq
MIRT864290	hsa-miR-655	CLIP-seq
MIRT864291	hsa-miR-661	CLIP-seq
MIRT864284	hsa-miR-1262	CLIP-seq
MIRT1956182	hsa-miR-1303	CLIP-seq
MIRT864286	hsa-miR-374c	CLIP-seq
MIRT1956183	hsa-miR-4474-3p	CLIP-seq
MIRT864287	hsa-miR-4701-3p	CLIP-seq
MIRT864290	hsa-miR-655	CLIP-seq
MIRT1956184	hsa-miR-670	CLIP-seq
MIRT2193833	hsa-miR-3690	CLIP-seq
MIRT2193834	hsa-miR-4254	CLIP-seq
MIRT2193835	hsa-miR-578	CLIP-seq
MIRT2193836	hsa-miR-581	CLIP-seq
MIRT1956184	hsa-miR-670	CLIP-seq
MIRT2427055	hsa-miR-3667-3p	CLIP-seq
MIRT2427056	hsa-miR-4279	CLIP-seq
MIRT2427057	hsa-miR-942	CLIP-seq

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Transcription factor	Regulation	Reference
BRCA1	Unknown	21296416
GCM2	Activation	18712808

Show/Hide all (82)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001503	Process	Ossification	IEA
GO:0001503	Process	Ossification	TAS	7874174
GO:0002931	Process	Response to ischemia	IEA
GO:0004930	Function	G protein-coupled receptor activity	IBA
GO:0004930	Function	G protein-coupled receptor activity	IDA	9694886, 10077597, 17376781, 27434672, 32817431, 33603117, 34194040, 34467854, 38326620, 38632411
GO:0004930	Function	G protein-coupled receptor activity	IEA
GO:0004930	Function	G protein-coupled receptor activity	TAS	7759551
GO:0005178	Function	Integrin binding	IEA
GO:0005509	Function	Calcium ion binding	IBA
GO:0005509	Function	Calcium ion binding	IDA	27434672
GO:0005513	Process	Detection of calcium ion	IBA
GO:0005513	Process	Detection of calcium ion	IDA	27434672
GO:0005513	Process	Detection of calcium ion	IEA
GO:0005513	Process	Detection of calcium ion	TAS	7759551
GO:0005515	Function	Protein binding	IPI	20361938
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	20798521
GO:0005886	Component	Plasma membrane	IDA	8702647, 16740594, 17555508, 19789209, 22789683, 25104082, 25766501, 26386835
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	7759551
GO:0006874	Process	Intracellular calcium ion homeostasis	IBA
GO:0006874	Process	Intracellular calcium ion homeostasis	IDA	9694886, 17376781, 27434672, 32817431, 33603117, 34194040, 34467854, 38632411
GO:0006874	Process	Intracellular calcium ion homeostasis	IEA
GO:0006874	Process	Intracellular calcium ion homeostasis	TAS	7874174
GO:0007165	Process	Signal transduction	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IDA	27434672
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IMP	8636323, 8702647, 8878438, 17555508, 19789209, 21566075, 22789683, 23169696, 23966241, 25104082, 25292184, 25766501, 26386835
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS	7759551
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	ISS
GO:0007193	Process	Adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway	IDA	34239069
GO:0007193	Process	Adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway	IDA	38326620, 38632411
GO:0007193	Process	Adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway	IEA
GO:0007193	Process	Adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway	ISS
GO:0007200	Process	Phospholipase C-activating G protein-coupled receptor signaling pathway	IDA	20966218, 37991948
GO:0007200	Process	Phospholipase C-activating G protein-coupled receptor signaling pathway	IDA	33603117, 38326620, 38632411
GO:0007200	Process	Phospholipase C-activating G protein-coupled receptor signaling pathway	IEA
GO:0007254	Process	JNK cascade	IEA
GO:0007635	Process	Chemosensory behavior	TAS	7759551
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0009653	Process	Anatomical structure morphogenesis	TAS	7916660
GO:0009986	Component	Cell surface	IEA
GO:0010038	Process	Response to metal ion	IEA
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0016020	Component	Membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016597	Function	Amino acid binding	IDA	27434672
GO:0019901	Function	Protein kinase binding	IEA
GO:0030424	Component	Axon	IEA
GO:0032024	Process	Positive regulation of insulin secretion	IEA
GO:0032782	Process	Bile acid secretion	IEA
GO:0035729	Process	Cellular response to hepatocyte growth factor stimulus	IEA
GO:0042311	Process	Vasodilation	IEA
GO:0042734	Component	Presynaptic membrane	IEA
GO:0042802	Function	Identical protein binding	IPI	34194040
GO:0042803	Function	Protein homodimerization activity	IDA	16740594, 27434672
GO:0043025	Component	Neuronal cell body	IEA
GO:0043679	Component	Axon terminus	IEA
GO:0044325	Function	Transmembrane transporter binding	IEA
GO:0045907	Process	Positive regulation of vasoconstriction	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048754	Process	Branching morphogenesis of an epithelial tube	IEA
GO:0050927	Process	Positive regulation of positive chemotaxis	IEA
GO:0051592	Process	Response to calcium ion	IEA
GO:0051924	Process	Regulation of calcium ion transport	IBA
GO:0051924	Process	Regulation of calcium ion transport	IEA
GO:0060613	Process	Fat pad development	IEA
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IEA
GO:0071305	Process	Cellular response to vitamin D	IEA
GO:0071333	Process	Cellular response to glucose stimulus	IEA
GO:0071404	Process	Cellular response to low-density lipoprotein particle stimulus	IEA
GO:0071456	Process	Cellular response to hypoxia	IEA
GO:0071774	Process	Response to fibroblast growth factor	IEA
GO:0090280	Process	Positive regulation of calcium ion import	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099505	Process	Regulation of presynaptic membrane potential	IEA
GO:0140582	Process	Adenylate cyclase-activating G protein-coupled cAMP receptor signaling pathway	IDA	35932760
GO:1900227	Process	Positive regulation of NLRP3 inflammasome complex assembly	IDA	32843625
GO:1900227	Process	Positive regulation of NLRP3 inflammasome complex assembly	ISS
GO:1901653	Process	Cellular response to peptide	IEA
GO:1902476	Process	Chloride transmembrane transport	IEA

MIM	HGNC	e!Ensembl
601199	1514	ENSG00000036828

P41180

Protein name

Extracellular calcium-sensing receptor (CaR) (CaSR) (hCasR) (Parathyroid cell calcium-sensing receptor 1) (PCaR1)

Protein function

G-protein-coupled receptor that senses changes in the extracellular concentration of calcium ions and plays a key role in maintaining calcium homeostasis (PubMed:17555508, PubMed:19789209, PubMed:21566075, PubMed:22114145, PubMed:22789683, PubMe

PDB

5FBH , 5FBK , 5K5S , 5K5T , 7DTT , 7DTU , 7DTV , 7DTW , 7E6T , 7E6U , 7M3E , 7M3F , 7M3G , 7M3J , 7SIL , 7SIM , 7SIN , 8SZF , 8SZG , 8SZH , 8SZI , 8WPG , 8WPU , 9ASB , 9AVG , 9AVL , 9AXF , 9AYF , 9C1P , 9C2F , 9J7I

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01094	ANF_receptor	69 → 498	Receptor family ligand binding region	Family
PF07562	NCD3G	538 → 591	Nine Cysteines Domain of family 3 GPCR	Family
PF00003	7tm_3	624 → 859	7 transmembrane sweet-taste receptor of 3 GCPR	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in the temporal lobe, frontal lobe, parietal lobe, hippocampus, and cerebellum. Also found in kidney, lung, liver, heart, skeletal muscle, placenta. {ECO:0000269|PubMed:18756473}.

Sequence

MAFYSCCWVLLALTWHTSAYGPDQRAQKKGDIILGGLFPIHFGVAAKDQDLKSRPESVEC
IRYNFRGFRWLQAMIFAIEEINSSPALLPNLTLGYRIFDTCNTVSKALEATLSFVAQNKI
DSLNLDEFCNCSEHIPSTIAVVGATGSGVSTAVANLLGLFYIPQVSYASSSRLLSNKNQF
KSFLRTIPNDEHQATAMADIIEYFRWNWVGTIAADDDYGRPGIEKFREEAEERDICIDFS
ELISQYSDEEEIQHVVEVIQNSTAKVIVVFSSGPDLEPLIKEIVRRNITGKIWLASEAWA
SSSLIAMPQYFHVVGGTIGFALKAGQIPGFREFLKKVHPRKSVHNGFAKEFWEETFNCHL
QEGAKGPLPVDTFLRGHEESGDRFSNSSTAFRPLCTGDENISSVETPYIDYTHLRISYNV
YLAVYSIAHALQDIYTCLPGRGLFTNGSCADIKKVEAWQVLKHLRHLNFTNNMGEQVTFD
ECGDLVGNYSIINWHLSPEDGSIVFKEVGYYNVYAKKGERLFINEEKILWSGFSREVPFS
NCSRDCLAGTRKGIIEGEPTCCFECVECPDGEYSDETDASACNKCPDDFWSNENHTSCIA
KEIEFLSWTEPFGIALTLFAVLGIFLTAFVLGVFIKFRNTPIVKATNRELSYLLLFSLLC
CFSSSLFFIGEPQDWTCRLRQPAFGISFVLCISCILVKTNRVLLVFEAKIPTSFHRKWWG
LNLQFLLVFLCTFMQIVICVIWLYTAPPSSYRNQELEDEIIFITCHEGSLMALGFLIGYT
CLLAAICFFFAFKSRKLPENFNEAKFITFSMLIFFIVWISFIPAYASTYGKFVSAVEVIA
ILAASFGLLACIFFNKIYIILFKPSRNTIEEVRCSTAAHAFKVAARATLRRSNVSRKRSS
SLGGSTGSTPSSSISSKSNSEDPFPQPERQKQQQPLALTQQEQQQQPLTLPQQQRSQQQP
RCKQKVIFGSGTVTFSLSFDEPQKNAMAHRNSTHQNSLEAQKSSDTLTRHEPLLPLQCGE
TDLDLTVQETGLQGPVGGDQRPEVEDPEELSPALVVSSSQSFVISGGGSTVTENVVNS

Sequence length

1078

Interactions

View interactions

	KEGG		Reactome
	NOD-like receptor signaling pathway Parathyroid hormone synthesis, secretion and action		G alpha (q) signalling events G alpha (i) signalling events Class C/3 (Metabotropic glutamate/pheromone receptors)

6735

Show/Hide Causal Diseases (18)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal dominant hypocalcemia	Pathogenic; Likely pathogenic	rs2074927550, rs2473280121, rs104893712, rs2473225928, rs1057521129, rs397514728, rs2074935748	RCV004690232 RCV005930676 RCV001804717 RCV003994928 RCV005238991 RCV001797617 RCV005909103
Autosomal dominant hypocalcemia 1	Pathogenic; Likely pathogenic	rs2107633334, rs193922423, rs2107650195, rs2107650280, rs2107650472, rs2107631801, rs2107632553, rs2107632814, rs2107632822, rs2107632860, rs2107649385, rs2107649406, rs2074923990, rs2107627458, rs2107650629 View all (135 more)	RCV001379696 RCV001377998 RCV001379475 RCV001379721 RCV001377943 RCV001389476 RCV001387820 RCV001388364 RCV001384283 RCV001382148 RCV001388368 RCV001383857 RCV001390641 RCV001535770 RCV001730102 RCV001868823 RCV005213591 RCV002542765 RCV001912618 RCV001970738 RCV001976004 RCV001941069 RCV001891852 RCV001997530 RCV002007310 RCV001924398 RCV001939580 RCV001994850 RCV001941522 RCV001900365 RCV001885869 RCV001912272 RCV001969834 RCV001931897 RCV001983000 RCV002026824 RCV001913409 RCV003101539 RCV002272633 RCV003774406 RCV003088759 RCV002651721 RCV002651722 RCV002651723 RCV002651729 RCV002651732 RCV002582862 RCV002786271 RCV002811393 RCV002894219 RCV002877444 RCV002895283 RCV002929133 RCV002923476 RCV003033614 RCV003056245 RCV001199039 RCV002228021 RCV000627760 RCV000008815 RCV001384282 RCV000477640 RCV000008821 RCV000008824 RCV000008825 RCV000008827 RCV000008828 RCV000008829 RCV000008830 RCV000524505 RCV002228022 RCV000549803 RCV001851747 RCV000008838 RCV000008839 RCV000008840 RCV000008841 RCV000549191 RCV003764537 RCV001390066 RCV000054480 RCV001040159 RCV000008852 RCV000008853 RCV000008855 RCV000459271 RCV000008859 RCV000226673 RCV000231951 RCV000815977 RCV001219086 RCV002229733 RCV003783058 RCV003783439 RCV003781014 RCV003781017 RCV003787797 RCV003806348 RCV003806402 RCV003806929 RCV003806973 RCV003802771 RCV003803400 RCV003800841 RCV003800899 RCV003800980 RCV003801422 RCV003794733 RCV003800431 RCV003809331 RCV003813634 RCV003815421 RCV003815642 RCV000457695 RCV002523905 RCV001379697 RCV002519527 RCV000694836 RCV000705547 RCV000700033 RCV002230097 RCV003153634 RCV002230400 RCV000474973 RCV000465913 RCV000465116 RCV002525806 RCV005624408 RCV000542291 RCV000639448 RCV001070010 RCV001852588 RCV000465400 RCV002513240 RCV000551549 RCV002234007 RCV000639467 RCV002532337 RCV002233710 RCV003768284 RCV000806048 RCV000822790 RCV000808448 RCV000054481 RCV001323851 RCV001208343 RCV001039545 RCV001058244 RCV001059152 RCV001222013 RCV001215539 RCV001210848 RCV001204429 RCV001233279 RCV001233441 RCV001229857 RCV001255709 RCV001255963 RCV001280870
Bartter syndrome with hypocalcemia	Pathogenic; Likely pathogenic	rs2107627458, rs104893706, rs397514729	RCV001535770 RCV000008847 RCV000054483
CASR-related calcium metabolism disorders	Likely pathogenic; Pathogenic	rs201633414	RCV003333060
CASR-related disorder	Pathogenic; Likely pathogenic	rs2107632822, rs1260540509, rs104893689, rs28936684, rs104893696, rs121909263, rs104893712, rs769256610, rs2473277883, rs2473225113, rs104893695, rs2473275975, rs2473214934, rs140022350, rs1553769059, rs397514728, rs2074565202 View all (2 more)	RCV004554860 RCV004554874 RCV004554586 RCV004554587 RCV004758591 RCV004554588 RCV004554589 RCV004554590 RCV004758675 RCV004554906 RCV004554901 RCV004554902 RCV004554903 RCV004554914 RCV004554774 RCV004554917 RCV004554695 RCV004731110
Epilepsy, idiopathic generalized, susceptibility to, 8	Likely pathogenic; Pathogenic	rs193922423, rs2107650629, rs2107649885, rs2473276491, rs104893689, rs121909260, rs104893697, rs28936684, rs121909263, rs121909266, rs104893707, rs104893712, rs104893716, rs773146939, rs886041823 View all (10 more)	RCV005023123 RCV002477905 RCV005025749 RCV005034451 RCV002496307 RCV002482842 RCV005025034 RCV002496308 RCV002476947 RCV005025035 RCV005025036 RCV005025037 RCV005025038 RCV002494624 RCV005031847 RCV005033929 RCV002488857 RCV002488902 RCV005033986 RCV002496905 RCV002499075 RCV002490628 RCV001536112 RCV002497795 RCV002480873
Familial hyperparathyroidism or Hypocalciuric hypercalcaemia	Likely pathogenic; Pathogenic	rs121909263, rs104893719, rs2107627809	RCV006277642 RCV006436381 RCV006276299
Familial hypocalciuric hypercalcemia	Pathogenic; Likely pathogenic	rs2107633334, rs193922423, rs2107650195, rs2107650280, rs2107650472, rs2107631801, rs2107632553, rs2107632814, rs2107632822, rs2107632860, rs2107649385, rs2107649406, rs2074923990, rs2107627458, rs2107624870 View all (131 more)	RCV001379696 RCV001377998 RCV001379475 RCV001379721 RCV001377943 RCV001389476 RCV001387820 RCV001388364 RCV001384283 RCV001382148 RCV001388368 RCV001383857 RCV001390641 RCV001535770 RCV001582352 RCV001732817 RCV001779470 RCV001779505 RCV001779533 RCV001825078 RCV001912618 RCV001970738 RCV001976004 RCV001941069 RCV001891852 RCV001997530 RCV002007310 RCV001924398 RCV001939580 RCV001994850 RCV001941522 RCV001900365 RCV001885869 RCV001912272 RCV001969834 RCV001931897 RCV001983000 RCV002026824 RCV001913409 RCV002238566 RCV002271885 RCV003774406 RCV003088759 RCV002651721 RCV002651722 RCV002651723 RCV002651729 RCV002651732 RCV002582862 RCV002786271 RCV002811393 RCV002894219 RCV002877444 RCV002895283 RCV002929133 RCV002923476 RCV003033614 RCV003056245 RCV000793559 RCV002228021 RCV000627760 RCV001060775 RCV001384282 RCV000477640 RCV001851746 RCV000524505 RCV002228022 RCV000549803 RCV001851747 RCV001851748 RCV000549191 RCV003764537 RCV001390066 RCV001040159 RCV001851749 RCV000459271 RCV000226673 RCV000231951 RCV003123385 RCV003226670 RCV000815977 RCV001219086 RCV002229733 RCV003404750 RCV003783058 RCV003783439 RCV003781014 RCV003781017 RCV003787797 RCV003806348 RCV003806402 RCV003806929 RCV003806973 RCV003802771 RCV003803400 RCV003800841 RCV003800899 RCV003800980 RCV003801422 RCV003794733 RCV003800431 RCV003809331 RCV003813634 RCV003815421 RCV003815642 RCV003994927 RCV000457695 RCV002523905 RCV001379697 RCV002519527 RCV000694836 RCV000705547 RCV004701464 RCV000700033 RCV002230097 RCV003153634 RCV002230400 RCV000474973 RCV000465913 RCV000465116 RCV002525806 RCV000542291 RCV000639448 RCV000029429 RCV000029430 RCV000029431 RCV000029432 RCV000029436 RCV000465400 RCV000029440 RCV000029443 RCV000029445 RCV000029450 RCV000029453 RCV000029454 RCV000551549 RCV002234007 RCV000639467 RCV002532337 RCV002233710 RCV003768284 RCV000806048 RCV000822790 RCV000808448 RCV001384281 RCV001323851 RCV001208343 RCV001039545 RCV001058244 RCV001059152 RCV001222013 RCV001215539 RCV001210848 RCV001204429 RCV001233279 RCV001233441 RCV001229857
Familial hypocalciuric hypercalcemia 1	Likely pathogenic; Pathogenic	rs193922423, rs2107631801, rs2107650629, rs2074927550, rs2107648305, rs2107650046, rs2107624989, rs387907394, rs2107649885, rs2107627423, rs794729230, rs2473276491, rs121909258, rs121909259, rs104893689 View all (45 more)	RCV005023123 RCV005411740 RCV002477905 RCV006249805 RCV002225161 RCV002244301 RCV002249328 RCV002267576 RCV005025749 RCV002272589 RCV000987312 RCV005034451 RCV000008810 RCV000008811 RCV000008813 RCV002482842 RCV005025034 RCV000008832 RCV000008833 RCV000008834 RCV000008835 RCV000008836 RCV000008837 RCV000008842 RCV000008843 RCV000008845 RCV005025036 RCV005025037 RCV000008857 RCV000008860 RCV000008861 RCV000008862 RCV002494624 RCV003982979 RCV005031847 RCV003315206 RCV003984454 RCV003984455 RCV003984457 RCV003984460 RCV003984461 RCV003984462 RCV004515747 RCV005033929 RCV002488857 RCV000664400 RCV002488902 RCV005033986 RCV005624408 RCV002496905 RCV003983103 RCV002247396 RCV002499075 RCV002490628 RCV000987310 RCV001030007 RCV001536112 RCV004031870 RCV002497795 RCV002480873
Familial hypoparathyroidism	Pathogenic; Likely pathogenic	rs104893694, rs193922430, rs397514728	RCV006439565 RCV000029437 RCV006439621
Hypercalcemia	Likely pathogenic	rs1057518933	RCV000415394
Hypertrophic cardiomyopathy	Likely pathogenic	rs1057518933	RCV000415394
Hypocalcemia	Pathogenic	rs1260540509	RCV001795868
Hypocalciuria	Likely pathogenic	rs1057518933	RCV000415394
Neonatal severe primary hyperparathyroidism	Likely pathogenic; Pathogenic	rs193922423, rs2107627458, rs2107650629, rs2107649885, rs2107627423, rs1313627454, rs2473276491, rs121909259, rs104893689, rs121909260, rs28936684, rs104893690, rs869320729, rs104893697, rs104893700 View all (22 more)	RCV005023123 RCV001535770 RCV002477905 RCV005025749 RCV003225225 RCV002466850 RCV005928729 RCV000008812 RCV000008814 RCV002482842 RCV000008818 RCV000008819 RCV000008820 RCV005025034 RCV000008831 RCV002496308 RCV002476947 RCV005025035 RCV000054484 RCV000008850 RCV005025037 RCV000008856 RCV005025038 RCV002494624 RCV005031847 RCV005238817 RCV004586698 RCV002488857 RCV002488902 RCV005033986 RCV002289683 RCV000029439 RCV002499075 RCV002490628 RCV001536112 RCV002497795 RCV003339542 RCV002480873
Nephrolithiasis/nephrocalcinosis	Pathogenic; Likely pathogenic	rs1553766262, rs2473257377, rs2107648387, rs2473258614, rs2107624704, rs104893698, rs28936684, rs121909263, rs104893701, rs104893705, rs797044441, rs104893712, rs104893716, rs769256610, rs886041154 View all (12 more)	RCV004044367 RCV004057043 RCV004060589 RCV004057455 RCV004061726 RCV004018592 RCV004018593 RCV004018594 RCV004018595 RCV004018596 RCV004018597 RCV003343599 RCV004018600 RCV004601135 RCV004021054 RCV004021069 RCV004021067 RCV004525670 RCV004022152 RCV004992275 RCV004601088 RCV004028231 RCV003343624 RCV004030129 RCV004031110 RCV003353236 RCV003365296
Parathyroid gland adenoma	Likely pathogenic	rs1057518933	RCV000415394
Primary hyperparathyroidism	Likely pathogenic; Pathogenic	rs121909258	RCV005241233

Show/Hide Unknown Diseases (11)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Bartter disease type 3	Uncertain significance	rs1244383237	RCV003483725
Bartter syndrome	Uncertain significance	rs2074943924	RCV001328099
Familial hypokalemia-hypomagnesemia	Uncertain significance	rs2074943924	RCV001328099
Hereditary cancer-predisposing syndrome	Likely benign; Uncertain significance; Conflicting classifications of pathogenicity; Benign	rs1203051815, rs895337411, rs943822017, rs62269092, rs34200949, rs115230894, rs138638329, rs150869744, rs76327999, rs200528343, rs112042188, rs556263764, rs201177696, rs373819680	RCV002258234 RCV002258225 RCV002257196 RCV002257478 RCV002256096 RCV002255323 RCV002255324 RCV002255325 RCV002257650 RCV002258880 RCV002256219 RCV002257885 RCV002255127 RCV002258114
Idiopathic generalized epilepsy	Uncertain significance	rs2074931493	RCV001253150
Malignant tumor of breast	Benign	rs1801725	RCV001269361
Neurodevelopmental disorder	no classifications from unflagged records	rs2107650645	RCV001374975
Prostate cancer	Conflicting classifications of pathogenicity	rs193921082	RCV000149000
See cases	Uncertain significance; Conflicting classifications of pathogenicity	rs2107627885, rs142745096	RCV004797951 RCV004584387
Serum calcium level	Benign	rs1801725	RCV000008854
Thyroid cancer, nonmedullary, 1	Likely benign	rs104893707	RCV005900192

Show/Hide Text Mining Associations (143)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acquired Immunodeficiency Syndrome	Associate	21288827
ACTH Secreting Pituitary Adenoma	Associate	35960046
Adenocarcinoma	Associate	25382680
Adenoma	Inhibit	32609827, 8995751
Adenomatous Polyposis Coli	Associate	17463182, 9920407
Alopecia	Associate	28741586
Alzheimer Disease	Associate	31640098
Arthritis Rheumatoid	Associate	25134967
Atherosclerosis	Associate	24101400, 25134967
Autoimmune polyendocrinopathy syndrome type 1	Associate	19837919
Bartter syndrome type 3	Associate	25506941
Bartter Syndrome Type 3 with Hypocalciuria	Associate	19789209, 27087013
Bites Human	Associate	8702647
Bone Diseases	Associate	18492387
Bone Diseases Metabolic	Associate	12040821
Breast Neoplasms	Associate	18492387, 24481145, 24584713, 25409930, 26650177, 28764683, 33845096, 37511437
Calcinosis	Associate	26436544, 30769016
Calcinosis Cutis	Associate	23533647, 27115058
Calcium Metabolism Disorders	Associate	25165186
Carcinogenesis	Associate	21317879, 28676564, 32609827
Carcinoma Renal Cell	Associate	24576174, 25382680, 29559845, 34449964
Cardiomyopathy Dilated	Associate	21471599
Cell Transformation Viral	Associate	26436544
Chromosome Aberrations	Associate	28263480
Colonic Neoplasms	Associate	16278666, 17557293, 18618519, 20648625, 21625458, 26076051
Colorectal Neoplasms	Associate	17463182, 18566015, 18618519, 18843020, 18980667, 20558521, 21084270, 22278364, 23555732, 26076051, 28676564, 28765616, 28856682, 30923017, 34576291
Colorectal Neoplasms	Inhibit	24691920
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	9920407
Coronary Artery Disease	Associate	25134967, 29763933
Deafness Autosomal Dominant 1	Associate	34160437
Death	Associate	23533647
Depression Postpartum	Associate	15005845
Diabetes Mellitus	Associate	25401741, 27510541
Diabetes Mellitus Type 2	Associate	24101400
Diabetic Nephropathies	Associate	25401741
Disease	Associate	25165186
Drug Related Side Effects and Adverse Reactions	Associate	18618519, 21317879
Dyslipidemias	Associate	31775661
Endometrial Neoplasms	Inhibit	29348629
Eosinophilic Esophagitis	Associate	20364112
Epilepsy Idiopathic Generalized	Associate	20798521
Familial benign hypercalcemia type 3	Associate	26082470, 29325022
Familial Hypophosphatemic Rickets	Associate	24553630, 25420019, 26994139, 32150253, 32386559
Fatigue	Associate	32871939
Fractures Bone	Associate	28630081
Genetic Diseases Inborn	Associate	20705733
Glycosuria Renal	Associate	17522693
Heart Arrest	Associate	30376845
Heart Failure	Associate	12733714
Hemolytic Uremic Syndrome	Associate	22166946
Homocystinuria	Associate	16278666, 17557293
Huntington Disease	Associate	29763933
Hyperandrogenism	Associate	30975191
Hypercalcemia	Associate	14641934, 19423460, 19789209, 25292184, 27087013, 29420171, 31778168, 32150253, 33771883, 35095753, 36638628, 37602721
Hypercalciuria	Associate	12239240, 12733714, 17332735, 17522693, 25292184, 25506941, 8813042, 9915958, 9920407
Hypercalciuria Absorptive 2	Associate	12239240
Hypercalciuric Hypocalcemia Familial	Associate	11089548, 12162500, 12733714, 15005845, 15591042, 19063686, 20119591, 23966241, 24042516, 24823460, 25506941, 28742508, 30496603, 8702647, 8813042
Hyperparathyroidism	Inhibit	11044218, 11703583, 36755240
Hyperparathyroidism	Associate	14985373, 19789209, 34111698, 34659108, 37810884, 8995751, 9507199
Hyperparathyroidism 1	Associate	14985373, 16995822, 22187299, 29036195
Hyperparathyroidism Neonatal Severe Primary	Associate	19389809, 20631026, 23077345, 25828954, 30376845, 31778168, 34111698, 34659108, 34887979, 35399047, 35848051, 35857775, 37246686, 7717399, 8675635, 8702647, 8878438, 9920407 View all (3 more)
Hyperparathyroidism Primary	Associate	12469911, 17018660, 18492387, 19423460, 27760455, 28222409, 30376845, 32761341, 35733207, 38130397, 8675635
Hyperparathyroidism Secondary	Associate	11044218, 19839774, 22166946, 23552627, 27468225, 27739473, 29763933, 34504264, 35140213, 36755240
Hyperplasia	Inhibit	8995751
Hypersensitivity Delayed	Stimulate	21288827
Hypertension	Associate	19066294
Hypoalphalipoproteinemias	Associate	8702647
Hypocalcemia	Associate	12733714, 19915295, 24042516, 29463778, 30020481, 32386559, 8813042
Hypocalcemia Autosomal Dominant with Bartter Syndrome	Associate	23802516, 24244430, 24708097, 27334330, 28742508, 29463778, 31063613, 32386559, 33112267
Hypocalciuric hypercalcemia familial type 1	Associate	12469911, 14641934, 16491288, 16642557, 16882283, 18525093, 19389809, 19423460, 19580466, 19789209, 20631026, 20697181, 20705733, 20798521, 20861236 View all (37 more)
Hypocalciuric hypercalcemia familial type 2	Associate	24708097
Hypoparathyroidism	Associate	16983178, 19837919, 20119591, 21471599, 30137364, 30496603, 31433868, 33112267, 34193455, 8813042
Hypoparathyroidism familial isolated	Associate	24133354
Hypophosphatemic Rickets with Hypercalciuria Hereditary	Associate	12239240, 17332735
Hypothyroidism	Associate	24292865
Hypoxia Brain	Associate	25847407
Immunologic Deficiency Syndromes	Associate	19915295
Infections	Associate	29763933
Inflammation	Associate	22449852, 24101400, 34576291, 35614177, 35931812, 36982291
Insulin Resistance	Associate	21082232
Insulinoma	Associate	29851790
Intellectual Disability	Associate	40225164
Kidney Calculi	Associate	12239240, 17018660, 17332735, 17522693, 21966463, 23864702, 26107257, 26272126, 36088585, 40372791
Kidney Diseases	Associate	25401741
Kidney Failure Chronic	Inhibit	11044218, 17537980
Kidney Failure Chronic	Associate	27739473, 29763933, 39624014
Latent Tuberculosis	Associate	38088554
Leukemia Myeloid Acute	Associate	35614177
Lymphatic Metastasis	Associate	24481145
Lymphoma Large B Cell Diffuse	Associate	25382680
Melanoma	Associate	11390379, 32241263
Mitochondrial Diseases	Associate	36982291
Multiple Endocrine Neoplasia Type 1	Associate	14985373
Multiple Pterygium Syndrome Autosomal Dominant	Associate	24042516, 30052933, 32513763, 8878438
Myeloproliferative Disorders	Associate	24292865
Myocardial Infarction	Associate	29763933
Myotonic Dystrophy	Associate	24101400
Neointima	Associate	35546405
Neoplasm Metastasis	Associate	18492387, 21240254, 23125333, 24576174, 27115058, 37511437
Neoplasm Metastasis	Inhibit	24584713
Neoplasms	Associate	18566015, 19350667, 20558521, 22144504, 26650177, 26865585, 27115058, 27537691, 28676564, 29348629, 33845096, 34165176, 37511437
Neoplasms	Inhibit	21317879, 24584713, 25090635, 26076051, 28856682
Neoplasms Adipose Tissue	Associate	22449852
Nephrolithiasis	Associate	12733714, 23864702, 27739473, 29763933, 30407299, 31754202, 34772415
Nephrolithiasis Calcium Oxalate	Associate	21966463, 23864702, 34772415
Nephrotic Syndrome	Associate	12469911
Neuroblastoma	Associate	19350667, 23533647
Obesity	Associate	22449852, 33076271, 35931812
Osteoarthritis Knee	Associate	35016442
Osteoporosis	Associate	16882283
Ovarian Diseases	Associate	30975191
Pancreatic Neoplasms	Associate	17078869, 23826131
Pancreatitis	Associate	14641934, 20798521, 37867141, 39172977
Pancreatitis Chronic	Associate	14641934, 18680227, 20798521, 32352720
Parathyroid Diseases	Associate	11044218, 12469911
Parathyroid Diseases	Inhibit	11703583
Parathyroid Neoplasms	Associate	10352095, 10713061, 18492387, 21240254, 22166946, 27872158, 32609827, 33670622, 34054720, 36611251, 37065733
Pathological Conditions Anatomical	Associate	24553630
Peripheral Arterial Disease	Associate	24101400
Polycystic Ovary Syndrome	Associate	21082232, 30975191
Polyendocrinopathies Autoimmune	Associate	19580466, 28941288
Precancerous Conditions	Associate	20558521
Prostatic Neoplasms	Associate	20364112, 23125333, 27115058, 27206800, 30808588
Prostatitis	Associate	23125333
Psychotic Disorders	Associate	16882283
Pulmonary Arterial Hypertension	Associate	30462536
Rectal Neoplasms	Associate	20558521
Renal Insufficiency Chronic	Associate	25401741, 35587600
Reperfusion Injury	Stimulate	29379093
Seizures	Associate	19915295, 21471599
Sleep Deprivation	Associate	36982291
Spondylocostal dysostosis autosomal recessive	Associate	17018660
Syndrome	Associate	8813042
Tertiary Lymphoid Structures	Associate	21317879
Tertiary Lymphoid Structures	Stimulate	37511437
Thyroid cancer Hurthle cell	Associate	37837817
Thyroid cancer medullary	Associate	37837817
Triple Negative Breast Neoplasms	Associate	35355564
Uveal melanoma	Associate	26994139
Vascular Calcification	Associate	26436544
Vascular Calcification	Inhibit	30769016
Vitamin D Deficiency	Associate	25695075, 39624014
Wasting Syndrome	Associate	25506941

CASR (calcium sensing receptor)