Details for Gene FKBP4

GENE NAME FKBP4
CHROMOSOME 12
ENSEMBL ID ENSG00000004478
ENTREZ ID 2288
UNIPROT ACCESSION NUMBER Q02790
GO MOLECULAR FUNCTION GTP binding; FK506 binding; protein binding; protein-macromolecule adaptor activity; heat shock protein binding; peptidyl-prolyl cis-trans isomerase activity; glucocorticoid receptor binding; tau protein binding; phosphoprotein binding; ATP binding; RNA binding; copper-dependent protein binding
ESSENTIAL IN MOUSE Essential
PATHWAYS R-HSA-162582; R-HSA-9679191; hsa04915; R-HSA-8953897; R-HSA-2262752; R-HSA-3371556; R-HSA-8939211; R-HSA-1643685; R-HSA-9018519; R-HSA-9679506; R-HSA-3371571; R-HSA-3371568; R-HSA-3371497; R-HSA-5663205; R-HSA-9006931
1 combination linked to FKBP4 OLI996
1 variant linked to FKBP4 FKBP4:c.1066C>T, p.Leu356Phe
2 diseases linked to FKBP4 Androgen insensitivity syndrome; 46,XY disorder of sex development

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