GENE NAME | FREM2 |
CHROMOSOME | 13 |
ENSEMBL ID | ENSG00000150893 |
ENTREZ ID | 341640 |
UNIPROT ACCESSION NUMBER | Q5SZK8 |
GO MOLECULAR FUNCTION | metal ion binding; protein binding |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | hsa04512 |
3 combinations linked to FREM2 | OLI604; OLI350; OLI342 |
3 variants linked to FREM2 | FREM2:c.8479C>T, p.Arg2827Cys; FREM2:c.4916G>A, p.Arg1639Lys; FREM2:c.9472dupC, p.Gln3160ThrfsTer6 |
3 diseases linked to FREM2 | Isolated Klippel-Feil syndrome; Disorder of sex development; 46,XY disorder of sex development |