Details for Gene CNTNAP2

GENE NAME CNTNAP2
CHROMOSOME 7
ENSEMBL ID ENSG00000174469
ENTREZ ID 26047
UNIPROT ACCESSION NUMBER Q9UHC6
GO MOLECULAR FUNCTION protein binding; enzyme binding
ESSENTIAL IN MOUSE Non-essential
PATHWAYS hsa04514; hsa04514
1 combination linked to CNTNAP2 OLI290
1 variant linked to CNTNAP2 CNTNAP2:c.338A>G, p.Tyr113Cys
1 disease linked to CNTNAP2 Adolescent idiopathic scoliosis

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