GENE NAME | CELSR2 |
CHROMOSOME | 1 |
ENSEMBL ID | ENSG00000143126 |
ENTREZ ID | 1952 |
UNIPROT ACCESSION NUMBER | Q9HCU4 |
GO MOLECULAR FUNCTION | G protein-coupled receptor activity; transmembrane signaling receptor activity; calcium ion binding |
ESSENTIAL IN MOUSE | Non-essential |
PATHWAYS | |
11 combinations linked to CELSR2 | OLI746; OLI731; OLI701; OLI763; OLI720; OLI704; OLI734; OLI747; OLI736; OLI753; OLI699 |
7 variants linked to CELSR2 | CELSR2:c.3800A>G, p.His1267Arg; CELSR2:c.3522C>G, p.Asp1174Glu; CELSR2:c.1892C>T, p.Thr631Met; CELSR2:c.376C>A, p.Gln126Lys; CELSR2:c.3041T>A, p.Leu1014His; CELSR2:c.1736G>C, p.Gly579Ala; CELSR2:c.8434C>T, p.Arg2812Trp |
2 diseases linked to CELSR2 | Isolated anencephaly; Craniorachischisis |