Gene table of PTEN : phosphatase and tensin homolog

Gene-disease associations table

Disease ID	Disease name	Source of annotation with PTEN	OMIM link	Number of associated genes	genes
275355	SQUAMOUS CELL CARCINOMA, HEAD AND NECK	ClinVar, OMIM, HUMSAVAR	link to OMIM	5	TNFRSF10B, ING1, PTEN, EGFR, ING3
276950	VACTERL ASSOCIATION WITH HYDROCEPHALUS	OMIM	link to OMIM	1	PTEN
605309	MACROCEPHALY/AUTISM SYNDROME	OMIM, HUMSAVAR	link to OMIM	1	PTEN
176807	PROSTATE CANCER	OMIM, HUMSAVAR	link to OMIM	15	PTEN, EPHB2, KLF6, AR, HIP1, CD82, MXI1, BRCA2, CDH1, CHEK2, ZFHX3, MAD1L1, HOXB13, MSR1, FGFR4
153480	BANNAYAN-RILEY-RUVALCABA SYNDROME	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	PTEN
607174	MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO	OMIM	link to OMIM	6	PTEN, PDGFB, NF2, MN1, SUFU, SMARCE1
PS137800	GLIOMA	ClinVar, OMIM, HUMSAVAR	link to OMIM	8	PTEN, PPARG, ERBB2, POT1, BRCA2, IDH2, IDH1, TP53
PS158350	COWDEN DISEASE	ClinVar, OMIM, HUMSAVAR	link to OMIM	7	AKT1, PTEN, SEC23B, SDHB, PIK3CA, KLLN, SDHD
PS155600	MELANOMA, CUTANEOUS MALIGNANT	OMIM	link to OMIM	11	STK11, POT1, BRAF, TERT, PTEN, CDKN2A, MITF, TYR, MC1R, CDK4, XRCC3
608089	ENDOMETRIAL CANCER	OMIM, HUMSAVAR	link to OMIM	5	MLH3, CDH1, MSH6, PTEN, MSH3

Download the gene annotation in CSV format

Annotation of the gene PTEN

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

P60484

Associated PDB IDs

Cytogenetic Band

10q23.31

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Inositol phosphate metabolism	hsa00562	6.72
Melanoma	hsa05218	6.56
Focal adhesion	hsa04510	4.92
Endometrial cancer	hsa05213	6.81
MicroRNAs in cancer	hsa05206	5.38
Pathways in cancer	hsa05200	3.98
Glioma	hsa05214	6.66
p53 signaling pathway	hsa04115	6.56
Tight junction	hsa04530	5.53
Phosphatidylinositol signaling system	hsa04070	6.38
Central carbon metabolism in cancer	hsa05230	6.7
Small cell lung cancer	hsa05222	6.17
FoxO signaling pathway	hsa04068	5.63
Prostate cancer	hsa05215	6.11
Hepatitis B	hsa05161	5.52
mTOR signaling pathway	hsa04150	6.72
PI3K-Akt signaling pathway	hsa04151	4.21

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Synthesis of PIPs at the plasma membrane	R-HSA-1660499	7.94
Transcriptional Regulation by TP53	R-HSA-3700989	6.73
PI3K/AKT activation	R-HSA-198203	6.32
Synthesis of IP3 and IP4 in the cytosol	R-HSA-1855204	8.34
Immune System	R-HSA-168256	2.37
Signaling by the B Cell Receptor (BCR)	R-HSA-983705	4.62
Metabolism	R-HSA-1430728	2.34
Downstream signal transduction	R-HSA-186763	4.65
GAB1 signalosome	R-HSA-180292	6.31
Signaling by ERBB4	R-HSA-1236394	4.7
PI Metabolism	R-HSA-1483255	7.31
Adaptive Immune System	R-HSA-1280218	3.19
Disease	R-HSA-1643685	3.33
Role of LAT2/NTAL/LAB on calcium mobilization	R-HSA-2730905	4.95
Downstream signaling of activated FGFR1	R-HSA-5654687	4.71
PIP3 activates AKT signaling	R-HSA-1257604	6.37
PI-3K cascade:FGFR3	R-HSA-5654710	6.37
PI-3K cascade:FGFR4	R-HSA-5654720	6.37
Gene Expression	R-HSA-74160	2.72
PI-3K cascade:FGFR1	R-HSA-5654689	6.37
Phospholipid metabolism	R-HSA-1483257	5.83
Signaling by EGFR	R-HSA-177929	4.59
Negative regulation of the PI3K/AKT network	R-HSA-199418	9.98
Downstream signaling events of B Cell Receptor (BCR)	R-HSA-1168372	5.59
Metabolism of lipids and lipoproteins	R-HSA-556833	3.79
Downstream signaling of activated FGFR3	R-HSA-5654708	4.71
Signaling by FGFR4	R-HSA-5654743	4.69
Signaling by FGFR3	R-HSA-5654741	4.69
Downstream TCR signaling	R-HSA-202424	7.01
Signaling by FGFR	R-HSA-190236	4.67
PI3K/AKT Signaling in Cancer	R-HSA-2219528	6.56
Diseases of signal transduction	R-HSA-5663202	4.89
Fc epsilon receptor (FCERI) signaling	R-HSA-2454202	4.03
PTEN Loss of Function in Cancer	R-HSA-5674404	12.98
Innate Immune System	R-HSA-168249	3.17
Signaling by SCF-KIT	R-HSA-1433557	4.73
Signaling by PDGF	R-HSA-186797	4.53
PI3K events in ERBB2 signaling	R-HSA-1963642	6.37
PI-3K cascade:FGFR2	R-HSA-5654695	6.37
Downstream signaling of activated FGFR2	R-HSA-5654696	4.71
TP53 Regulates Metabolic Genes	R-HSA-5628897	6.73
NGF signalling via TRKA from the plasma membrane	R-HSA-187037	4.51
Inositol phosphate metabolism	R-HSA-1483249	7.52
Signalling by NGF	R-HSA-166520	4.23
Signaling by FGFR2	R-HSA-5654738	4.68
Signaling by FGFR1	R-HSA-5654736	4.69
PI3K events in ERBB4 signaling	R-HSA-1250342	6.37
TCR signaling	R-HSA-202403	6.64
Generic Transcription Pathway	R-HSA-212436	3.86
DAP12 interactions	R-HSA-2172127	4.56
Downstream signaling of activated FGFR4	R-HSA-5654716	4.71
Signaling by ERBB2	R-HSA-1227986	4.66
Signal Transduction	R-HSA-162582	1.78
DAP12 signaling	R-HSA-2424491	4.64

Associated GO terms for Molecular function

GO term	GO ID	GO IC
phosphatase activity	GO:0016791	4.11
platelet-derived growth factor receptor binding	GO:0005161	7.1
phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity	GO:0016314	8.35
enzyme binding	GO:0019899	2.27
phosphoric ester hydrolase activity	GO:0042578	3.82
macromolecular complex binding	GO:0044877	2.61
binding	GO:0005488	0.18
inositol phosphate phosphatase activity	GO:0052745	6.74
phosphatidylinositol monophosphate phosphatase activity	GO:0052744	7.1
inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity	GO:0051717	9.05
magnesium ion binding	GO:0000287	4.41
ion binding	GO:0043167	1.36
cation binding	GO:0043169	1.4
protein complex binding	GO:0032403	3.09
anaphase-promoting complex binding	GO:0010997	7.95
metal ion binding	GO:0046872	1.41
identical protein binding	GO:0042802	2.63
hydrolase activity	GO:0016787	1.9
protein tyrosine/serine/threonine phosphatase activity	GO:0008138	5.91
phosphatidylinositol phosphate phosphatase activity	GO:0052866	6.34
lipid binding	GO:0008289	3.26
hydrolase activity, acting on ester bonds	GO:0016788	3.1
protein kinase binding	GO:0019901	3.44
catalytic activity	GO:0003824	1.05
PDZ domain binding	GO:0030165	5.22
protein domain specific binding	GO:0019904	3.32
phosphatidylinositol trisphosphate phosphatase activity	GO:0034594	7.79
phosphatidylinositol bisphosphate phosphatase activity	GO:0034593	6.44
kinase binding	GO:0019900	3.32
inositol tetrakisphosphate phosphatase activity	GO:0052743	7.34
protein tyrosine phosphatase activity	GO:0004725	5.09
growth factor receptor binding	GO:0070851	4.87
protein serine/threonine phosphatase activity	GO:0004722	5.58
phosphoprotein phosphatase activity	GO:0004721	4.55
phosphatidylinositol-3-phosphatase activity	GO:0004438	7.1
protein binding	GO:0005515	0.46
receptor binding	GO:0005102	2.43
phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity	GO:0051800	8.64