Details for Gene SPEG

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 OLI799; OLI793
2 variants linked to SPEG SPEG:c.6971T>A, p.Ile2324Asn; SPEG:c.9575C>A, p.Thr3192Asn
1 disease linked to SPEG Arthrogryposis syndrome

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