GENE NAME | CASR |
CHROMOSOME | 3 |
ENSEMBL ID | ENSG00000036828 |
ENTREZ ID | 846 |
UNIPROT ACCESSION NUMBER | P41180 |
GO MOLECULAR FUNCTION | G protein-coupled receptor activity; phosphatidylinositol phospholipase C activity; metal ion binding; protein binding |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | R-HSA-388396; R-HSA-420499; R-HSA-416476; R-HSA-500792; hsa04621; R-HSA-162582; R-HSA-372790; hsa04928; R-HSA-418594 |
1 combination linked to CASR | OLI881 |
1 variant linked to CASR | CASR:c.1315C>G, p.Pro439Ala |
1 disease linked to CASR | Kallmann syndrome |