Gene table of CASR : calcium sensing receptor

Gene-disease associations table

Disease ID	Disease name	Source of annotation with CASR	OMIM link	Number of associated genes	genes
PS601198	HYPOCALCEMIA	ClinVar, OMIM, HUMSAVAR	link to OMIM	2	GNA11, CASR
612899	EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 8	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	CASR
PS145980	HYPOCALCIURIC HYPERCALCEMIA	ClinVar, OMIM, HUMSAVAR	link to OMIM	3	GNA11, AP2S1, CASR
146200	HYPOPARATHYROIDISM, FAMILIAL ISOLATED	ClinVar	link to OMIM	3	GCM2, PTH, CASR
239200	HYPERPARATHYROIDISM, NEONATAL SEVERE	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	CASR

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Signaling by GPCR	R-HSA-372790	2.68
G alpha (i) signalling events	R-HSA-418594	5.1
Gastrin-CREB signalling pathway via PKC and MAPK	R-HSA-881907	4.26
G alpha (q) signalling events	R-HSA-416476	5.42
GPCR downstream signaling	R-HSA-388396	3.07
Class C/3 (Metabotropic glutamate/pheromone receptors)	R-HSA-420499	7.66
GPCR ligand binding	R-HSA-500792	4.19
Signal Transduction	R-HSA-162582	1.78

Associated GO terms for Molecular function

GO term	GO ID	GO IC
signaling receptor activity	GO:0038023	2.49
integrin binding	GO:0005178	5.07
enzyme binding	GO:0019899	2.27
drug binding	GO:0008144	5.03
phosphoric ester hydrolase activity	GO:0042578	3.82
molecular transducer activity	GO:0060089	2.32
macromolecular complex binding	GO:0044877	2.61
binding	GO:0005488	0.18
signal transducer activity	GO:0004871	2.28
ion channel binding	GO:0044325	5.02
cation binding	GO:0043169	1.4
G-protein coupled receptor activity	GO:0004930	2.95
phosphoric diester hydrolase activity	GO:0008081	5.23
magnesium ion binding	GO:0000287	4.41
ion binding	GO:0043167	1.36
calcium ion binding	GO:0005509	3.17
protein complex binding	GO:0032403	3.09
metal ion binding	GO:0046872	1.41
hydrolase activity	GO:0016787	1.9
hydrolase activity, acting on ester bonds	GO:0016788	3.1
protein kinase binding	GO:0019901	3.44
kinase binding	GO:0019900	3.32
cell adhesion molecule binding	GO:0050839	4.5
phospholipase activity	GO:0004620	5.16
polyamine binding	GO:0019808	9.05
phosphatidylinositol phospholipase C activity	GO:0004435	6.41
catalytic activity	GO:0003824	1.05
transmembrane signaling receptor activity	GO:0004888	2.57
phospholipase C activity	GO:0004629	6.3
protein binding	GO:0005515	0.46
receptor binding	GO:0005102	2.43
lipase activity	GO:0016298	4.96
transmembrane receptor activity	GO:0099600	2.53
receptor activity	GO:0004872	2.32