GENE NAME | TULP3 |
CHROMOSOME | 12 |
ENSEMBL ID | ENSG00000078246 |
ENTREZ ID | 7289 |
UNIPROT ACCESSION NUMBER | O75386 |
GO MOLECULAR FUNCTION | intraciliary transport particle A binding; protein-containing complex binding; G protein-coupled receptor binding; protein binding |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | R-HSA-5358351; R-HSA-162582; R-HSA-5610787 |
2 combinations linked to TULP3 | OLI714; OLI687 |
2 variants linked to TULP3 | TULP3:c.1310G>C, p.Ser437Thr; TULP3:c.709G>T, p.Ala237Ser |
2 diseases linked to TULP3 | Isolated anencephaly; Holoprosencephaly |