GENE NAME | PTK7 |
CHROMOSOME | 6 |
ENSEMBL ID | ENSG00000112655 |
ENTREZ ID | 5754 |
UNIPROT ACCESSION NUMBER | Q13308 |
GO MOLECULAR FUNCTION | ATP binding; protein binding; protein kinase activity |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | |
4 combinations linked to PTK7 | OLI509; OLI293; OLI731; OLI296 |
4 variants linked to PTK7 | PTK7:c.1703C>G, p.Thr568Arg; PTK7:c.1525C>T, p.Pro509Ser; PTK7:c.1925C>G, p.Pro642Arg; PTK7:c.655A>G, p.Ser219Gly |
3 diseases linked to PTK7 | Adolescent idiopathic scoliosis; Isolated anencephaly; Isolated spina bifida |