Details for Gene CELSR2

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 OLI753; OLI747; OLI734; OLI731; OLI720; OLI699; OLI704; OLI746; OLI736; OLI763; OLI701
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

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