Details for Gene PTPN11

GENE NAME PTPN11
CHROMOSOME 12
ENSEMBL ID ENSG00000179295
ENTREZ ID 5781
UNIPROT ACCESSION NUMBER Q06124
GO MOLECULAR FUNCTION phosphoprotein phosphatase activity; non-membrane spanning protein tyrosine phosphatase activity; protein tyrosine phosphatase activity; hydrolase activity
ESSENTIAL IN MOUSE Essential
PATHWAYS R-HSA-1170546; R-HSA-2404192; R-HSA-9702518; R-HSA-2219528; R-HSA-180292; R-HSA-5654695; R-HSA-5654712; R-HSA-109704; R-HSA-2586552; R-HSA-5654700; R-HSA-449147; R-HSA-373752; hsa04670; R-HSA-9645135; R-HSA-1257604; hsa04650; R-HSA-9006925; hsa05130; R-HSA-913531; R-HSA-114604; R-HSA-177929; R-HSA-391160; hsa04014; R-HSA-5683057; R-HSA-2428928; hsa04722; hsa05120; R-HSA-1059683; R-HSA-186763; hsa04360; R-HSA-1643685; R-HSA-1280218; R-HSA-5654741; R-HSA-446652; R-HSA-877312; R-HSA-6806834; R-HSA-1280215; R-HSA-76002; hsa04625; R-HSA-418886; R-HSA-9682385; R-HSA-186797; R-HSA-5654736; R-HSA-1295596; R-HSA-5654716; R-HSA-74160; R-HSA-74752; R-HSA-166166; R-HSA-202733; R-HSA-5684996; R-HSA-936964; hsa04630; R-HSA-74751; R-HSA-912694; R-HSA-112411; R-HSA-8854691; R-HSA-909733; R-HSA-418346; R-HSA-9703648; R-HSA-432142; hsa05205; R-HSA-168898; R-HSA-5654733; R-HSA-877300; R-HSA-1433557; R-HSA-5654732; R-HSA-9006115; R-HSA-8878171; R-HSA-168256; R-HSA-5654706; R-HSA-6783589; R-HSA-73857; R-HSA-9008059; hsa04072; R-HSA-512988; R-HSA-5654727; R-HSA-166016; R-HSA-5654720; R-HSA-5654687; R-HSA-9607240; R-HSA-1500931; R-HSA-5654710; hsa04920; R-HSA-110056; hsa05168; R-HSA-210990; R-HSA-5654738; R-HSA-5654743; R-HSA-9028731; R-HSA-9675108; R-HSA-210993; R-HSA-422475; R-HSA-212436; R-HSA-6811558; R-HSA-2219530; R-HSA-168249; R-HSA-2428924; hsa05211; hsa04931; R-HSA-388841; R-HSA-389948; R-HSA-5654693; R-HSA-9006934; R-HSA-937061; hsa05220; R-HSA-190236; R-HSA-199418; R-HSA-5654708; hsa05235; R-HSA-109582; R-HSA-8934593; R-HSA-112409; R-HSA-5654726; R-HSA-5663202; R-HSA-162582; R-HSA-8853659; R-HSA-166520; R-HSA-1266738; R-HSA-389513; R-HSA-5654689; R-HSA-5654696; R-HSA-112399; R-HSA-8865999
3 combinations linked to PTPN11 OLI352; OLI602; OLI568
3 variants linked to PTPN11 PTPN11:c.1448-38G>T, ; PTPN11:p.Thr468Met; PTPN11:c.-89G>A,
4 diseases linked to PTPN11 Hypertrophic cardiomyopathy; Hypertrophic cardiomyopathy; Disorder of sex development; 46,XY disorder of sex development
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