Details for Gene CNTN2

GENE NAME CNTN2
CHROMOSOME 1
ENSEMBL ID ENSG00000184144
ENTREZ ID 6900
UNIPROT ACCESSION NUMBER Q02246
GO MOLECULAR FUNCTION protein binding; cell-cell adhesion mediator activity
ESSENTIAL IN MOUSE Non-essential
PATHWAYS R-HSA-373760; R-HSA-375165; R-HSA-9675108; R-HSA-422475; R-HSA-1266738; R-HSA-447038; R-HSA-419037; hsa04514; hsa04514
2 combinations linked to CNTN2 OLI851; OLI914
2 variants linked to CNTN2 CNTN2:c.1075C>A, p.Arg359Ser; CNTN2:c.1888C>G, p.Arg630Gly
1 disease linked to CNTN2 Normosmic congenital hypogonadotropic hypogonadism

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