GENE NAME | FAT4 |
CHROMOSOME | 4 |
ENSEMBL ID | ENSG00000196159 |
ENTREZ ID | 79633 |
UNIPROT ACCESSION NUMBER | Q6V0I7 |
GO MOLECULAR FUNCTION | protein binding; calcium ion binding |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | hsa04392 |
10 combinations linked to FAT4 | OLI695; OLI696; OLI762; OLI735; OLI757; OLI744; OLI711; OLI746; OLI712; OLI708 |
12 variants linked to FAT4 | FAT4:c.8015A>T, p.Asp2672Val; FAT4:c.739C>A, p.Pro247Thr; FAT4:c.6607C>T, p.Arg2203Trp; FAT4:c.11893C>T, p.Pro3965Ser; FAT4:c.3402A>T, p.Glu1134Asp; FAT4:c.5792A>G, p.Tyr1931Cys; FAT4:c.10384A>G, p.Ile3462Val; FAT4:c.3937C>T, p.Pro1313Ser; FAT4:c.10147G>A, p.Gly3383Ser; FAT4:c.4250C>A, p.Pro1417His; FAT4:c.13921C>G, p.Gln4641Glu; FAT4:c.10847C>T, p.Thr3616Met |
1 disease linked to FAT4 | Isolated anencephaly |