GENE NAME | SPEG |
CHROMOSOME | 2 |
ENSEMBL ID | ENSG00000072195 |
ENTREZ ID | 10290 |
UNIPROT ACCESSION NUMBER | Q15772 |
GO MOLECULAR FUNCTION | protein binding; transferase activity; kinase activity; protein serine/threonine kinase activity; ATP binding; nucleotide binding; protein kinase activity; protein serine kinase activity |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | |
2 combinations linked to SPEG | OLI793; OLI799 |
2 variants linked to SPEG | SPEG:c.6971T>A, p.Ile2324Asn; SPEG:c.9575C>A, p.Thr3192Asn |
1 disease linked to SPEG | Arthrogryposis syndrome |