Details for Gene FLRT3

GENE NAME FLRT3
CHROMOSOME 20
ENSEMBL ID None
ENTREZ ID ENSG00000125848
UNIPROT ACCESSION NUMBER Q9NZU0
GO MOLECULAR FUNCTION ['protein homodimerization activity', 'protein-macromolecule adaptor activity', 'protein binding', 'fibroblast growth factor receptor binding', 'chemorepellent activity']
ESSENTIAL IN MOUSE Essential
PATHWAYS R-HSA-1266738; R-HSA-162582; R-HSA-190236; R-HSA-376176; R-HSA-422475; R-HSA-5654687; R-HSA-5654736; R-HSA-9006934; R-HSA-9675108
10 combinations linked to FLRT3 OLI1535; OLI1652; OLI1279; OLI1550; OLI1300; OLI372; OLI1522; OLI1538; OLI367; OLI1271
11 variants linked to FLRT3 FLRT3:c.290A>G, p.Glu97Gly; FLRT3:c.431G>T, p.Ser144Ile; FLRT3:c.205C>A, p.Gln69Lys; FLRT3:c.1865T>C, p.Leu622Pro; FLRT3:c.1134A>C, p.Gln378His; FLRT3:c.1859T>G, p.Met620Arg; FLRT3:c.325T>G, p.Leu109Val; FLRT3:c.152C>T, p.Ser51Phe; FLRT3:c.88T>C, p.Ser30Pro; FLRT3:c.950G>A, p.Arg317His; FLRT3:c.1106C>T, p.Ala369Val
3 diseases linked to FLRT3 Normosmic congenital hypogonadotropic hypogonadism; 46,XY disorder of sex development; Kallmann syndrome
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