Details for Gene FREM2

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

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