| 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 | OLI731; OLI704; OLI701; OLI746; OLI753; OLI720; OLI747; OLI763; OLI736; OLI734; 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 |