GENE NAME | CELSR3 |
CHROMOSOME | 3 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000008300 |
UNIPROT ACCESSION NUMBER | Q9NYQ7 |
GO MOLECULAR FUNCTION | ['G protein-coupled receptor activity', 'calcium ion binding', 'protein binding'] |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | |
5 combinations linked to CELSR3 | OLI714; OLI1478; OLI737; OLI729; OLI701 |
5 variants linked to CELSR3 | CELSR3:c.9827C>T, p.Pro3276Leu; CELSR3:c.7890G>A, p.Met2630Ile; CELSR3:c.8335C>G, p.Arg2779Gly; CELSR3:c.5587C>T, p.Arg1863Trp; CELSR3:p.Arg3289His |
2 diseases linked to CELSR3 | Hypoplastic left heart syndrome; Isolated anencephaly |