Free for academic non-profit institutions. Other users need a Commercial license

Aliases for PTEN Gene

Aliases for PTEN Gene

  • Phosphatase And Tensin Homolog 2 3 4 5
  • Mutated In Multiple Advanced Cancers 1 2 3 4
  • MMAC1 3 4
  • TEP1 3 4
  • Phosphatidylinositol 3,4,5-Trisphosphate 3-Phosphatase And Dual-Specificity Protein Phosphatase PTEN 3
  • Phosphatidylinositol-3,4,5-Trisphosphate 3-Phosphatase And Dual-Specificity Protein Phosphatase PTEN 3
  • MMAC1 Phosphatase And Tensin Homolog Deleted On Chromosome 10 3
  • Mitochondrial Phosphatase And Tensin Protein Alpha 3
  • Phosphatase And Tensin-Like Protein 3
  • Mitochondrial PTENalpha 3
  • EC 3.1.3.16 4
  • EC 3.1.3.48 4
  • EC 3.1.3.67 4
  • 10q23del 3
  • PTENbeta 3
  • PTEN1 3
  • CWS1 3
  • GLM2 3
  • MHAM 3
  • DEC 3
  • BZS 3

External Ids for PTEN Gene

Previous HGNC Symbols for PTEN Gene

  • BZS
  • MHAM

Previous GeneCards Identifiers for PTEN Gene

  • GC10P088504
  • GC10P088844
  • GC10P089754
  • GC10P089287
  • GC10P089613
  • GC10P083258

Summaries for PTEN Gene

Entrez Gene Summary for PTEN Gene

  • This gene was identified as a tumor suppressor that is mutated in a large number of cancers at high frequency. The protein encoded by this gene is a phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase. It contains a tensin like domain as well as a catalytic domain similar to that of the dual specificity protein tyrosine phosphatases. Unlike most of the protein tyrosine phosphatases, this protein preferentially dephosphorylates phosphoinositide substrates. It negatively regulates intracellular levels of phosphatidylinositol-3,4,5-trisphosphate in cells and functions as a tumor suppressor by negatively regulating AKT/PKB signaling pathway. The use of a non-canonical (CUG) upstream initiation site produces a longer isoform that initiates translation with a leucine, and is thought to be preferentially associated with the mitochondrial inner membrane. This longer isoform may help regulate energy metabolism in the mitochondria. A pseudogene of this gene is found on chromosome 9. Alternative splicing and the use of multiple translation start codons results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2015]

CIViC summary for PTEN Gene

  • PTEN is a multi-functional tumor suppressor that is very commonly lost in human cancer. Observed in prostate cancer, glioblastoma, endometrial, lung and breast cancer to varying degrees. Up to 70% of prostate cancer patients have been observed to have loss of expression of the gene. It is a part of the PI3K/AKT/mTOR pathway and mTOR inhibitors have been relatively ineffective in treating patients with PTEN loss. New appoaches using microRNAs are currently being investigated.

GeneCards Summary for PTEN Gene

PTEN (Phosphatase And Tensin Homolog) is a Protein Coding gene. Diseases associated with PTEN include Bannayan-Riley-Ruvalcaba Syndrome and Macrocephaly/Autism Syndrome. Among its related pathways are ICos-ICosL Pathway in T-Helper Cell and Development IGF-1 receptor signaling. GO annotations related to this gene include protein kinase binding and magnesium ion binding. An important paralog of this gene is TPTE2.

UniProtKB/Swiss-Prot for PTEN Gene

  • Tumor suppressor. Acts as a dual-specificity protein phosphatase, dephosphorylating tyrosine-, serine- and threonine-phosphorylated proteins. Also acts as a lipid phosphatase, removing the phosphate in the D3 position of the inositol ring from phosphatidylinositol 3,4,5-trisphosphate, phosphatidylinositol 3,4-diphosphate, phosphatidylinositol 3-phosphate and inositol 1,3,4,5-tetrakisphosphate with order of substrate preference in vitro PtdIns(3,4,5)P3 > PtdIns(3,4)P2 > PtdIns3P > Ins(1,3,4,5)P4 (PubMed:26504226). The lipid phosphatase activity is critical for its tumor suppressor function. Antagonizes the PI3K-AKT/PKB signaling pathway by dephosphorylating phosphoinositides and thereby modulating cell cycle progression and cell survival. The unphosphorylated form cooperates with AIP1 to suppress AKT1 activation. Dephosphorylates tyrosine-phosphorylated focal adhesion kinase and inhibits cell migration and integrin-mediated cell spreading and focal adhesion formation. Plays a role as a key modulator of the AKT-mTOR signaling pathway controlling the tempo of the process of newborn neurons integration during adult neurogenesis, including correct neuron positioning, dendritic development and synapse formation. May be a negative regulator of insulin signaling and glucose metabolism in adipose tissue. The nuclear monoubiquitinated form possesses greater apoptotic potential, whereas the cytoplasmic nonubiquitinated form induces less tumor suppressive ability. In motile cells, suppresses the formation of lateral pseudopods and thereby promotes cell polarization and directed movement.

  • Isoform alpha: Functional kinase, like isoform 1 it antagonizes the PI3K-AKT/PKB signaling pathway. Plays a role in mitochondrial energetic metabolism by promoting COX activity and ATP production, via collaboration with isoform 1 in increasing protein levels of PINK1.

Gene Wiki entry for PTEN Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PTEN Gene

Genomics for PTEN Gene

Regulatory Elements for PTEN Gene

Enhancers for PTEN Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10G088061 1.8 FANTOM5 Ensembl ENCODE dbSUPER 29.3 +202.0 201988 6.6 PKNOX1 FOXA2 WRNIP1 YY1 ZNF207 JUNB ZNF623 TBX21 ZNF518A NBN PTEN KLLN MINPP1 NUTM2D MED6P1 GC10P088093
GH10G088106 1.3 FANTOM5 Ensembl ENCODE dbSUPER 19.6 +243.6 243573 1.4 EED IKZF1 IKZF2 ZNF623 SPI1 PTEN KLLN LOC105378415 LOC101929727
GH10G088383 1.8 FANTOM5 Ensembl ENCODE dbSUPER 11.9 +524.0 523994 7.4 HNRNPUL1 PKNOX1 FEZF1 YY1 GLIS2 ZNF143 KLF7 NFYC JUNB TBX21 KLLN PTEN LIPK GC10P088387 VN1R55P
GH10G087915 1.1 Ensembl ENCODE dbSUPER 17.9 +54.3 54272 4.1 JUN HDAC2 POLR2A GATA2 ZSCAN5C GLIS1 HMBOX1 PRDM1 ZNF18 PTEN KLLN RPL11P3 ENSG00000224745
GH10G087889 0.9 dbSUPER 17.2 +30.5 30465 8.7 PKNOX1 RAD21 YY1 ZNF121 CBX5 ETV6 RELB CREM IKZF2 CBFB PTEN KLLN STAMBPL1 LIPJ ENSG00000224745 RPL11P3
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PTEN on UCSC Golden Path with GeneCards custom track

Promoters for PTEN Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000031121 1862 7401 MLX CREB3L1 AGO1 ZFP64 FEZF1 DMAP1 YY1 ZNF143 ZNF548 SP3

Genomic Location for PTEN Gene

Chromosome:
10
Start:
87,863,113 bp from pter
End:
87,971,930 bp from pter
Size:
108,818 bases
Orientation:
Plus strand

Genomic View for PTEN Gene

Genes around PTEN on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PTEN Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PTEN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PTEN Gene

Proteins for PTEN Gene

  • Protein details for PTEN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P60484-PTEN_HUMAN
    Recommended name:
    Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN
    Protein Accession:
    P60484
    Secondary Accessions:
    • B2R904
    • F2YHV0
    • O00633
    • O02679
    • Q6ICT7

    Protein attributes for PTEN Gene

    Size:
    403 amino acids
    Molecular mass:
    47166 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Monomer. The unphosphorylated form interacts with the second PDZ domain of AIP1 and with DLG1 and MAST2 in vitro (PubMed:10646847, PubMed:10760291, PubMed:11707428). Interacts with MAGI2, MAGI3, MAST1 and MAST3, but neither with MAST4 nor with DLG5; interaction with MAGI2 increases protein stability (PubMed:10748157, PubMed:15951562). Interacts with NEDD4 (PubMed:17218260). Interacts with NDFIP1 and NDFIP2; in the presence of NEDD4 or ITCH, this interaction promotes PTEN ubiquitination (PubMed:25801959, PubMed:20534535). Interacts (via C2 domain) with FRK (PubMed:19345329). Interacts with USP7; the interaction is direct (PubMed:18716620). Interacts with ROCK1 (By similarity). Interacts with XIAP/BIRC4 (PubMed:19473982). Interacts with STK11; the interaction phosphorylates PTEN (PubMed:15987703).

    Three dimensional structures from OCA and Proteopedia for PTEN Gene

    Alternative splice isoforms for PTEN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PTEN Gene

Post-translational modifications for PTEN Gene

  • Constitutively phosphorylated by CK2 under normal conditions. Phosphorylated in vitro by MAST1, MAST2, MAST3 and STK11. Phosphorylation results in an inhibited activity towards PIP3. Phosphorylation can both inhibit or promote PDZ-binding. Phosphorylation at Tyr-336 by FRK/PTK5 protects this protein from ubiquitin-mediated degradation probably by inhibiting its binding to NEDD4. Phosphorylation by ROCK1 is essential for its stability and activity. Phosphorylation by PLK3 promotes its stability and prevents its degradation by the proteasome.
  • Monoubiquitinated; monoubiquitination is increased in presence of retinoic acid. Deubiquitinated by USP7; leading to its nuclear exclusion. Monoubiquitination of one of either Lys-13 and Lys-289 amino acid is sufficient to modulate PTEN compartmentalization. Ubiquitinated by XIAP/BIRC4.
  • Ubiquitination at isoforms=3, 213, isoforms=3, 280, and Lys289
  • Modification sites at PhosphoSitePlus

Other Protein References for PTEN Gene

Assay Products

  • Cloud-Clone Corp. Assay Kits for PTEN
  • Abcam assays for PTEN

No data available for DME Specific Peptides for PTEN Gene

Domains & Families for PTEN Gene

Suggested Antigen Peptide Sequences for PTEN Gene

Graphical View of Domain Structure for InterPro Entry

P60484

UniProtKB/Swiss-Prot:

PTEN_HUMAN :
  • The C2 domain binds phospholipid membranes in vitro in a Ca(2+)-independent manner; this binding is important for its tumor suppressor function.
Domain:
  • The C2 domain binds phospholipid membranes in vitro in a Ca(2+)-independent manner; this binding is important for its tumor suppressor function.
genes like me logo Genes that share domains with PTEN: view

Function for PTEN Gene

Molecular function for PTEN Gene

GENATLAS Biochemistry:
phosphatase and tensin homolog,antagonizing signal transduction downstream of PI-3 kinase by dephosphorylating phosphatidylinositol-phosphate (PtdInsP),expressed in normal colon,tumor suppressor gene,modulating cell cycle progression and cell survival,negative regulator of cell interactions with the extracellular matrix,mutated in multiple advanced cancers (prostate and colorectal carcinoma,primary glioblastoma,renal cell carcinoma,breast and brain cancer,small cell lung cancer,squamous cell carcinoma of head and neck,sporadic follicular thyroid tumor,Cowden syndrome,melanoma and Bannayan Zonana syndrome,endometrial atypical hyperplasia,high grade astrocytoma,lymphoid neoplasms,laryngeal tumors),inversely correlated with AKF1
UniProtKB/Swiss-Prot CatalyticActivity:
Phosphatidylinositol 3,4,5-trisphosphate + H(2)O = phosphatidylinositol 4,5-bisphosphate + phosphate.
UniProtKB/Swiss-Prot CatalyticActivity:
[a protein]-serine/threonine phosphate + H(2)O = [a protein]-serine/threonine + phosphate.
UniProtKB/Swiss-Prot CatalyticActivity:
Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate.
UniProtKB/Swiss-Prot Function:
Tumor suppressor. Acts as a dual-specificity protein phosphatase, dephosphorylating tyrosine-, serine- and threonine-phosphorylated proteins. Also acts as a lipid phosphatase, removing the phosphate in the D3 position of the inositol ring from phosphatidylinositol 3,4,5-trisphosphate, phosphatidylinositol 3,4-diphosphate, phosphatidylinositol 3-phosphate and inositol 1,3,4,5-tetrakisphosphate with order of substrate preference in vitro PtdIns(3,4,5)P3 > PtdIns(3,4)P2 > PtdIns3P > Ins(1,3,4,5)P4 (PubMed:26504226). The lipid phosphatase activity is critical for its tumor suppressor function. Antagonizes the PI3K-AKT/PKB signaling pathway by dephosphorylating phosphoinositides and thereby modulating cell cycle progression and cell survival. The unphosphorylated form cooperates with AIP1 to suppress AKT1 activation. Dephosphorylates tyrosine-phosphorylated focal adhesion kinase and inhibits cell migration and integrin-mediated cell spreading and focal adhesion formation. Plays a role as a key modulator of the AKT-mTOR signaling pathway controlling the tempo of the process of newborn neurons integration during adult neurogenesis, including correct neuron positioning, dendritic development and synapse formation. May be a negative regulator of insulin signaling and glucose metabolism in adipose tissue. The nuclear monoubiquitinated form possesses greater apoptotic potential, whereas the cytoplasmic nonubiquitinated form induces less tumor suppressive ability. In motile cells, suppresses the formation of lateral pseudopods and thereby promotes cell polarization and directed movement.
UniProtKB/Swiss-Prot Function:
Isoform alpha: Functional kinase, like isoform 1 it antagonizes the PI3K-AKT/PKB signaling pathway. Plays a role in mitochondrial energetic metabolism by promoting COX activity and ATP production, via collaboration with isoform 1 in increasing protein levels of PINK1.
UniProtKB/Swiss-Prot Induction:
Down-regulated by TGFB1.

Enzyme Numbers (IUBMB) for PTEN Gene

Gene Ontology (GO) - Molecular Function for PTEN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding IEA --
GO:0004438 phosphatidylinositol-3-phosphatase activity IDA 9811831
GO:0004721 phosphoprotein phosphatase activity IDA 21241890
GO:0004722 protein serine/threonine phosphatase activity IDA 9256433
GO:0004725 protein tyrosine phosphatase activity IDA 9256433
genes like me logo Genes that share ontologies with PTEN: view

Phenotypes for PTEN Gene

MGI mutant phenotypes for PTEN:
inferred from 19 alleles
GenomeRNAi human phenotypes for PTEN:
genes like me logo Genes that share phenotypes with PTEN: view

Human Phenotype Ontology for PTEN Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PTEN Gene

MGI Knock Outs for PTEN:

Animal Model Products

  • Taconic Biosciences Mouse Models for PTEN

CRISPR Products

miRNA for PTEN Gene

miRTarBase miRNAs that target PTEN

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for PTEN
  • Applied Biological Materials Clones for PTEN

No data available for Transcription Factor Targets and HOMER Transcription for PTEN Gene

Localization for PTEN Gene

Subcellular locations from UniProtKB/Swiss-Prot for PTEN Gene

Cytoplasm. Nucleus. Nucleus, PML body. Note=Monoubiquitinated form is nuclear. Nonubiquitinated form is cytoplasmic. Colocalized with PML and USP7 in PML nuclear bodies (PubMed:18716620). XIAP/BIRC4 promotes its nuclear localization (PubMed:19473982). {ECO:0000269 PubMed:18716620, ECO:0000269 PubMed:19473982}.
Isoform alpha: Secreted. Note=May be secreted via a classical signal peptide and reenter into cells with the help of a poly-Arg motif.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PTEN gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytosol 5
extracellular 4
mitochondrion 4
cytoskeleton 2
peroxisome 1
endoplasmic reticulum 1
lysosome 1
endosome 1

Gene Ontology (GO) - Cellular Components for PTEN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005634 nucleus IDA 17218261
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm TAS 9367992
GO:0005739 mitochondrion IEA --
genes like me logo Genes that share ontologies with PTEN: view

Pathways & Interactions for PTEN Gene

genes like me logo Genes that share pathways with PTEN: view

SIGNOR curated interactions for PTEN Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:
Other effect:

Gene Ontology (GO) - Biological Process for PTEN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000079 regulation of cyclin-dependent protein serine/threonine kinase activity TAS 10918569
GO:0001525 angiogenesis IEA --
GO:0001933 negative regulation of protein phosphorylation ISS --
GO:0002902 regulation of B cell apoptotic process IEA --
GO:0006470 protein dephosphorylation TAS 9367992
genes like me logo Genes that share ontologies with PTEN: view

Drugs & Compounds for PTEN Gene

(106) Drugs for PTEN Gene - From: PharmGKB, ClinicalTrials, ApexBio, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cetuximab Approved Pharma Antibody, Biomarker, inhibitor EGFR Inhibitors, Therapeutic Antibodies, Epidermal growth factor receptor (EGFR) inhibitors 752
Everolimus Approved Pharma inhibitor, Biomarker mTOR inhibitor, mTOR Inhibitors, Kinase Inhibitors, Mammalian target of rapamycin (mTOR) inhibitors 1940
Cisplatin Approved Pharma Inhibits DNA synthesis,chemotherapy drug, Platinum, Potent pro-apoptotic anticancer agent; activates caspase-3 2770
Erlotinib Approved, Investigational Pharma Inhibition, inhibitor, Biomarker EGFR tyrosine kinase inhibitor, EGFR inhibitor, EGFR Inhibitors, Kinase Inhibitors, Epidermal growth factor receptor (EGFR) inhibitors 0
Estradiol Approved, Investigational, Vet_approved Pharma Sex hormone 1318

(419) Additional Compounds for PTEN Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Phosphatidylinositol-3,4,5-trisphosphate
  • 1,2-Diacyl-sn-glycero-3-phospho-(1'-myo-inositol-3',4',5'-bisphosphate)
  • 1-Phosphatidyl-1D-myo-inositol 3,4,5-trisphosphate
  • Phosphatidylinositol-3,4,5-trisphosphate
1-Phosphatidyl-D-myo-inositol
  • (3-Phosphatidyl)-1-D-inositol
  • 1,2-Diacyl-sn-glycero-3-phosphoinositol
  • 1-Phosphatidyl-1D-myo-inositol
  • 1-Phosphatidyl-myo-inositol
  • Phosphatidyl-1D-myo-inositol
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
PI(16:0/16:0)
  • 1,2-Dihexadecanoyl-rac-glycero-3-phospho-(1'-myo-inositol)
  • 1,2-Dipalmitoyl-rac-glycero-3-phosphoinositol
  • Phosphatidylinositol(16:0/16:0)
  • Phosphatidylinositol(32:0)
  • PI(16:0/16:0)
PI(16:0/16:1(9Z))
  • 1-Hexadecanoyl-2-(9Z-hexadecenoyl)-sn-glycero-3-phospho-(1'-myo-inositol)
  • 1-Palmitoyl-2-palmitoleoyl-sn-glycero-3-phosphoinositol
  • Phosphatidylinositol(16:0/16:1)
  • Phosphatidylinositol(16:0/16:1n7)
  • Phosphatidylinositol(16:0/16:1w7)

(2) ApexBio Compounds for PTEN Gene

Compound Action Cas Number
SF1670 PTEN inhibitor, potent and specific 345630-40-2
VO-Ohpic trihydrate PTEN inhibitor 476310-60-8
genes like me logo Genes that share compounds with PTEN: view

Drug Products

Transcripts for PTEN Gene

Unigene Clusters for PTEN Gene

Phosphatase and tensin homolog:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for PTEN
  • Applied Biological Materials Clones for PTEN

Alternative Splicing Database (ASD) splice patterns (SP) for PTEN Gene

No ASD Table

Relevant External Links for PTEN Gene

GeneLoc Exon Structure for
PTEN
ECgene alternative splicing isoforms for
PTEN

Expression for PTEN Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PTEN Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PTEN Gene

This gene is overexpressed in Whole Blood (x5.0).

Protein differential expression in normal tissues from HIPED for PTEN Gene

This gene is overexpressed in Adrenal (17.6), Peripheral blood mononuclear cells (7.3), and Fetal Brain (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PTEN Gene



Protein tissue co-expression partners for PTEN Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PTEN Gene:

PTEN

SOURCE GeneReport for Unigene cluster for PTEN Gene:

Hs.500466

mRNA Expression by UniProt/SwissProt for PTEN Gene:

P60484-PTEN_HUMAN
Tissue specificity: Expressed at a relatively high level in all adult tissues, including heart, brain, placenta, lung, liver, muscle, kidney and pancreas.

Evidence on tissue expression from TISSUES for PTEN Gene

  • Lung(4.7)
  • Liver(4.6)
  • Spleen(4.5)
  • Nervous system(3.7)
  • Intestine(3.3)
  • Blood(2.9)
  • Thyroid gland(2.9)
  • Lymph node(2.8)
  • Heart(2.7)
  • Muscle(2.7)
  • Skin(2.6)
  • Kidney(2.5)
  • Pancreas(2.4)
  • Stomach(2.3)
  • Bone marrow(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PTEN Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • hypothalamus
  • jaw
  • lip
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • nose
  • parathyroid
  • pituitary gland
  • salivary gland
  • skull
  • thyroid
  • tongue
  • tooth
Thorax:
  • breast
  • bronchus
  • chest wall
  • clavicle
  • esophagus
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • adrenal gland
  • appendix
  • duodenum
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
  • stomach
Pelvis:
  • anus
  • ovary
  • pelvis
  • penis
  • rectum
  • testicle
  • ureter
  • urethra
  • urinary bladder
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • hair
  • lymph node
  • lymph vessel
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • spinal cord
  • sweat gland
  • vertebrae
genes like me logo Genes that share expression patterns with PTEN: view

Primer Products

Orthologs for PTEN Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PTEN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PTEN 34 35
  • 99.83 (n)
cow
(Bos Taurus)
Mammalia PTEN 34 35
  • 98.1 (n)
dog
(Canis familiaris)
Mammalia PTEN 34 35
  • 96.69 (n)
mouse
(Mus musculus)
Mammalia Pten 34 16 35
  • 96.2 (n)
rat
(Rattus norvegicus)
Mammalia Pten 34
  • 95.53 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 81 (a)
OneToMany
-- 35
  • 74 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia PTEN 35
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves PTEN 34 35
  • 91.29 (n)
lizard
(Anolis carolinensis)
Reptilia PTEN 35
  • 94 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pten 34
  • 82.38 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.561 34
zebrafish
(Danio rerio)
Actinopterygii ptenb 34 35
  • 79.2 (n)
ptena 35
  • 76 (a)
OneToMany
pten 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12284 34
fruit fly
(Drosophila melanogaster)
Insecta Pten 34 35 36
  • 54.6 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009628 34
  • 53.07 (n)
worm
(Caenorhabditis elegans)
Secernentea daf-18 36 35
  • 43 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.1456 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 64 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3243 34
Species where no ortholog for PTEN was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PTEN Gene

ENSEMBL:
Gene Tree for PTEN (if available)
TreeFam:
Gene Tree for PTEN (if available)

Paralogs for PTEN Gene

Paralogs for PTEN Gene

(8) SIMAP similar genes for PTEN Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with PTEN: view

Variants for PTEN Gene

Sequence variations from dbSNP and Humsavar for PTEN Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs121909218 Pathogenic, Cowden syndrome 1 (CWS1) [MIM:158350] 87,933,145(+) AAAGG(A/G)ACGAA reference, missense, utr-variant-5-prime
rs121909221 Pathogenic, Bannayan-Riley-Ruvalcaba syndrome (BRRS) [MIM:153480] 87,952,135(+) CCCAG(A/T)CAGAG reference, missense, utr-variant-5-prime
rs121909222 Pathogenic, Cowden syndrome 1 (CWS1) [MIM:158350] 87,933,127(+) AATTC(A/G)CTGTA reference, missense, utr-variant-5-prime
rs121909223 Pathogenic, Cowden syndrome 1 (CWS1) [MIM:158350] 87,933,129(+) TTCAC(C/G/T)GTAAA reference, missense, utr-variant-5-prime
rs121909225 Pathogenic, Cowden syndrome 1 (CWS1) [MIM:158350] 87,894,049(+) TGCTA(G/T)GGGAT reference, missense, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for PTEN Gene

Variant ID Type Subtype PubMed ID
dgv1333n54 CNV loss 21841781
esv25064 CNV gain 19812545
esv2530664 CNV deletion 19546169
esv2678342 CNV deletion 23128226
esv275087 CNV gain+loss 21479260
esv3546637 CNV deletion 23714750
esv3579049 CNV loss 25503493
esv3624116 CNV loss 21293372
nsv1035154 CNV gain 25217958
nsv1035278 CNV gain 25217958
nsv1041392 CNV gain 25217958
nsv1044043 CNV gain 25217958
nsv1044700 CNV gain 25217958
nsv1050406 CNV gain 25217958
nsv1069065 CNV deletion 25765185
nsv1121819 CNV deletion 24896259
nsv551832 CNV loss 21841781
nsv551837 CNV loss 21841781
nsv820703 CNV deletion 20802225
nsv948128 CNV duplication 23825009

Variation tolerance for PTEN Gene

Residual Variation Intolerance Score: 39.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.13; 2.99% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PTEN Gene

Human Gene Mutation Database (HGMD)
PTEN
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PTEN

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PTEN Gene

Disorders for PTEN Gene

MalaCards: The human disease database

(123) MalaCards diseases for PTEN Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
bannayan-riley-ruvalcaba syndrome
  • bannayan-zonana syndrome
macrocephaly/autism syndrome
  • macrocephaly-autism syndrome
cowden syndrome 1
  • lhermitte-duclos syndrome
squamous cell carcinoma, head and neck
  • squamous cell carcinoma, head and neck, somatic
endometrial cancer
  • endometrial cancer, familial
- elite association - COSMIC cancer census association via MalaCards
Search PTEN in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PTEN_HUMAN
  • Bannayan-Riley-Ruvalcaba syndrome (BRRS) [MIM:153480]: A rare hamartomatous disorder characterized by macrocephaly and multiple hemangiomas as well as subcutaneous and visceral lipomas. It belongs to the family of hamartomatous polyposis syndromes that includes Peutz Jeghers syndrome, juvenile polyposis, and Cowden syndrome. {ECO:0000269 PubMed:10400993, ECO:0000269 PubMed:11494117, ECO:0000269 PubMed:9241266, ECO:0000269 PubMed:9467011}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Cowden syndrome 1 (CWS1) [MIM:158350]: An autosomal dominant hamartomatous polyposis syndrome with age-related penetrance. Cowden syndrome is characterized by hamartomatous lesions affecting derivatives of ectodermal, mesodermal and endodermal layers, macrocephaly, facial trichilemmomas (benign tumors of the hair follicle infundibulum), acral keratoses, papillomatous papules, and elevated risk for development of several types of malignancy, particularly breast carcinoma in women and thyroid carcinoma in both men and women. Colon cancer and renal cell carcinoma have also been reported. Hamartomas can be found in virtually every organ, but most commonly in the skin, gastrointestinal tract, breast and thyroid. {ECO:0000269 PubMed:10051160, ECO:0000269 PubMed:10234502, ECO:0000269 PubMed:11230179, ECO:0000269 PubMed:11494117, ECO:0000269 PubMed:18716620, ECO:0000269 PubMed:9140396, ECO:0000269 PubMed:9259288, ECO:0000269 PubMed:9345101, ECO:0000269 PubMed:9399897, ECO:0000269 PubMed:9425889, ECO:0000269 PubMed:9467011, ECO:0000269 PubMed:9600246, ECO:0000269 PubMed:9735393, ECO:0000269 PubMed:9797362, ECO:0000269 PubMed:9811831, ECO:0000269 PubMed:9832031, ECO:0000269 PubMed:9915974}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Endometrial cancer (ENDMC) [MIM:608089]: A malignancy of endometrium, the mucous lining of the uterus. Most endometrial cancers are adenocarcinomas, cancers that begin in cells that make and release mucus and other fluids. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Glioma 2 (GLM2) [MIM:613028]: Gliomas are benign or malignant central nervous system neoplasms derived from glial cells. They comprise astrocytomas and glioblastoma multiforme that are derived from astrocytes, oligodendrogliomas derived from oligodendrocytes and ependymomas derived from ependymocytes. {ECO:0000269 PubMed:12085208}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Lhermitte-Duclos disease (LDD) [MIM:158350]: A rare disease characterized by the occurrence of a slowly enlarging mass within the cerebellar cortex corresponding histologically to a cerebellar hamartoma. It manifests, most commonly in the third and fourth decades of life, with increased intracranial pressure, headache, nausea, cerebellar dysfunction, occlusive hydrocephalus, ataxia, visual disturbances and other cranial nerve palsies. Various associated abnormalities may be present such as megalencephaly, microgyria, hydromyelia, polydactyly, partial gigantism, macroglossia. LDD is part of the PTEN hamartoma tumor syndromes spectrum that also includes Cowden syndrome. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Macrocephaly/autism syndrome (MCEPHAS) [MIM:605309]: Patients have autism spectrum disorders and macrocephaly, with head circumferences ranging from +2.5 to +8 SD for age and sex (average head circumference +4.0 SD). {ECO:0000269 PubMed:15805158, ECO:0000269 PubMed:23160955}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=A microdeletion of chromosome 10q23 involving BMPR1A and PTEN is a cause of chromosome 10q23 deletion syndrome, which shows overlapping features of the following three disorders: Bannayan-Zonana syndrome, Cowden disease and juvenile polyposis syndrome.
  • Note=PTEN mutations are found in a subset of patients with Proteus syndrome, a genetically heterogeneous condition. The molecular diagnosis of PTEN mutation positive cases classifies Proteus syndrome patients as part of the PTEN hamartoma syndrome spectrum. As such, patients surviving the early years of Proteus syndrome are likely at a greater risk of developing malignancies.
  • Prostate cancer (PC) [MIM:176807]: A malignancy originating in tissues of the prostate. Most prostate cancers are adenocarcinomas that develop in the acini of the prostatic ducts. Other rare histopathologic types of prostate cancer that occur in approximately 5% of patients include small cell carcinoma, mucinous carcinoma, prostatic ductal carcinoma, transitional cell carcinoma, squamous cell carcinoma, basal cell carcinoma, adenoid cystic carcinoma (basaloid), signet-ring cell carcinoma and neuroendocrine carcinoma. {ECO:0000269 PubMed:26504226, ECO:0000269 PubMed:9072974}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Squamous cell carcinoma of the head and neck (HNSCC) [MIM:275355]: A non-melanoma skin cancer affecting the head and neck. The hallmark of cutaneous SCC is malignant transformation of normal epidermal keratinocytes. {ECO:0000269 PubMed:11801303}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • VACTERL association with hydrocephalus (VACTERL-H) [MIM:276950]: VACTERL is an acronym for vertebral anomalies, anal atresia, congenital cardiac disease, tracheoesophageal fistula, renal anomalies, radial dysplasia, and other limb defects. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PTEN

Genetic Association Database (GAD)
PTEN
Human Genome Epidemiology (HuGE) Navigator
PTEN
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PTEN
genes like me logo Genes that share disorders with PTEN: view

No data available for Genatlas for PTEN Gene

Publications for PTEN Gene

  1. Rak functions as a tumor suppressor by regulating PTEN protein stability and function. (PMID: 19345329) Yim E.-K. … Lin S.-Y. (Cancer Cell 2009) 3 4 22 64
  2. PTEN genomic deletion is associated with p-Akt and AR signalling in poorer outcome, hormone refractory prostate cancer. (PMID: 19402094) Sircar K. … Squire J.A. (J. Pathol. 2009) 3 22 46 64
  3. Clinicopathological and molecular analysis of endometrial carcinoma associated with tamoxifen. (PMID: 18500270) Turbiner J. … Palacios J. (Mod. Pathol. 2008) 3 22 46 64
  4. The deubiquitinylation and localization of PTEN are regulated by a HAUSP-PML network. (PMID: 18716620) Song M.S. … Pandolfi P.P. (Nature 2008) 3 4 22 64
  5. A functional genetic approach identifies the PI3K pathway as a major determinant of trastuzumab resistance in breast cancer. (PMID: 17936563) Berns K. … Bernards R. (Cancer Cell 2007) 3 22 46 64

Products for PTEN Gene

  • Addgene plasmids for PTEN

Sources for PTEN Gene