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 | OLI914; OLI851 |
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 |