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 |