MultifacetedProtDB - Bologna Biocomputing Group

EC number	EC number description
3.1.3.16	Hydrolases; Acting on ester bonds; Phosphoric-monoester hydrolases; protein-serine/threonine phosphatase
3.1.3.48	Hydrolases; Acting on ester bonds; Phosphoric-monoester hydrolases; protein-tyrosine-phosphatase
3.1.3.67	Hydrolases; Acting on ester bonds; Phosphoric-monoester hydrolases; phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase

Structure

PDB	Resolution (Å)	PDB name
1D5R	2.1	Crystal Structure of the PTEN Tumor Suppressor
2KYL		Solution structure of MAST2-PDZ complexed with the C-terminus of PTEN
4O1V	2.0	SPOP Promotes Tumorigenesis by Acting as a Key Regulatory Hub in Kidney Cancer
5BUG	2.4	Crystal structure of human phosphatase PTEN oxidized by H2O2
5BZX	2.5	Crystal structure of human phosphatase PTEN treated with a bisperoxovanadium complex
5BZZ	2.2	Crystal structure of human phosphatase PTEN in its reduced state
7JTX	3.23	the structural basis of PTEN regulation by multi-site phosphorylation
7JUK	3.15	Crystal structure of PTEN with a tetra-phosphorylated tail (4p-crPTEN-13sp-T2, SDTTDSDPENEG)
7JUL	2.53	Crystal structure of non phosphorylated PTEN (n-crPTEN-13sp-T1, SDTTDSDPENEG)
7JVX	3.2	Crystal structure of PTEN (aa 7-353 followed by spacer TGGGSGGTGGGSGGTGGGCY ligated to peptide pSDpTpTDpSDPENEPFDED)
7PC7	2.1	The PDZ domain of SNTG1 complexed with the acetylated PDZ-binding motif of PTEN

GO term

GO ontology	GO term	GO description
Biological Process	GO:0006915	apoptotic process
Biological Process	GO:0048854	brain morphogenesis
Biological Process	GO:0060070	canonical Wnt signaling pathway
Biological Process	GO:0016477	cell migration
Biological Process	GO:0048870	cell motility
Biological Process	GO:0071257	cellular response to electrical stimulus
Biological Process	GO:0007417	central nervous system development
Biological Process	GO:0032286	central nervous system myelin maintenance
Biological Process	GO:0021955	central nervous system neuron axonogenesis
Biological Process	GO:0060997	dendritic spine morphogenesis
Biological Process	GO:0021542	dentate gyrus development
Biological Process	GO:0048853	forebrain morphogenesis
Biological Process	GO:0007507	heart development
Biological Process	GO:0007611	learning or memory
Biological Process	GO:0051179	localization
Biological Process	GO:0045475	locomotor rhythm
Biological Process	GO:0007626	locomotory behavior
Biological Process	GO:0033555	multicellular organismal response to stress
Biological Process	GO:0070373	negative regulation of ERK1 and ERK2 cascade
Biological Process	GO:2000134	negative regulation of G1/S transition of mitotic cell cycle
Biological Process	GO:0050771	negative regulation of axonogenesis
Biological Process	GO:1902807	negative regulation of cell cycle G1/S phase transition
Biological Process	GO:0030336	negative regulation of cell migration
Biological Process	GO:0008285	negative regulation of cell population proliferation
Biological Process	GO:0045792	negative regulation of cell size
Biological Process	GO:2000773	negative regulation of cellular senescence
Biological Process	GO:0045736	negative regulation of cyclin-dependent protein serine/threonine kinase activity
Biological Process	GO:0061002	negative regulation of dendritic spine morphogenesis
Biological Process	GO:0010719	negative regulation of epithelial to mesenchymal transition
Biological Process	GO:0090394	negative regulation of excitatory postsynaptic potential
Biological Process	GO:0051895	negative regulation of focal adhesion assembly
Biological Process	GO:0051548	negative regulation of keratinocyte migration
Biological Process	GO:0010977	negative regulation of neuron projection development
Biological Process	GO:0046621	negative regulation of organ growth
Biological Process	GO:0033137	negative regulation of peptidyl-serine phosphorylation
Biological Process	GO:0014067	negative regulation of phosphatidylinositol 3-kinase signaling
Biological Process	GO:0051898	negative regulation of protein kinase B signaling
Biological Process	GO:0001933	negative regulation of protein phosphorylation
Biological Process	GO:2000808	negative regulation of synaptic vesicle clustering
Biological Process	GO:1904706	negative regulation of vascular associated smooth muscle cell proliferation
Biological Process	GO:1903690	negative regulation of wound healing, spreading of epidermal cells
Biological Process	GO:0007270	neuron-neuron synaptic transmission
Biological Process	GO:0014065	phosphatidylinositol 3-kinase signaling
Biological Process	GO:0006661	phosphatidylinositol biosynthetic process
Biological Process	GO:0046856	phosphatidylinositol dephosphorylation
Biological Process	GO:0051091	positive regulation of DNA-binding transcription factor activity
Biological Process	GO:1903984	positive regulation of TRAIL-activated apoptotic signaling pathway
Biological Process	GO:0008284	positive regulation of cell population proliferation
Biological Process	GO:2000463	positive regulation of excitatory postsynaptic potential
Biological Process	GO:1904668	positive regulation of ubiquitin protein ligase activity
Biological Process	GO:2000060	positive regulation of ubiquitin-dependent protein catabolic process
Biological Process	GO:0097107	postsynaptic density assembly
Biological Process	GO:0060134	prepulse inhibition
Biological Process	GO:0097105	presynaptic membrane assembly
Biological Process	GO:0006470	protein dephosphorylation
Biological Process	GO:0043491	protein kinase B signaling
Biological Process	GO:0050821	protein stabilization
Biological Process	GO:0032535	regulation of cellular component size
Biological Process	GO:0010975	regulation of neuron projection development
Biological Process	GO:0051896	regulation of protein kinase B signaling
Biological Process	GO:0031647	regulation of protein stability
Biological Process	GO:0060024	rhythmic synaptic transmission
Biological Process	GO:0035176	social behavior
Biological Process	GO:0007416	synapse assembly
Biological Process	GO:0060074	synapse maturation
Molecular Function	GO:0030165	PDZ domain binding
Molecular Function	GO:0010997	anaphase-promoting complex binding
Molecular Function	GO:0019899	enzyme binding
Molecular Function	GO:0042802	identical protein binding
Molecular Function	GO:0051717	inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity
Molecular Function	GO:0008289	lipid binding
Molecular Function	GO:0140678	molecular function inhibitor activity
Molecular Function	GO:0017018	myosin phosphatase activity
Molecular Function	GO:0016314	phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity
Molecular Function	GO:0051800	phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity
Molecular Function	GO:0004438	phosphatidylinositol-3-phosphate phosphatase activity
Molecular Function	GO:0004721	phosphoprotein phosphatase activity
Molecular Function	GO:0004722	protein serine/threonine phosphatase activity
Molecular Function	GO:0004725	protein tyrosine phosphatase activity
Molecular Function	GO:1990381	ubiquitin-specific protease binding
Cellular Component	GO:0016605	PML body
Cellular Component	GO:0043220	Schmidt-Lanterman incisure
Cellular Component	GO:0016324	apical plasma membrane
Cellular Component	GO:0042995	cell projection
Cellular Component	GO:0005737	cytoplasm
Cellular Component	GO:0009898	cytoplasmic side of plasma membrane
Cellular Component	GO:0005829	cytosol
Cellular Component	GO:0043197	dendritic spine
Cellular Component	GO:0005576	extracellular region
Cellular Component	GO:0035749	myelin sheath adaxonal region
Cellular Component	GO:0043005	neuron projection
Cellular Component	GO:0005654	nucleoplasm
Cellular Component	GO:0005634	nucleus
Cellular Component	GO:0005886	plasma membrane
Cellular Component	GO:0014069	postsynaptic density

InterPro / Pfam

InterPro	InterPro name
IPR000387	Tyrosine-specific protein phosphatases domain
IPR003595	Protein-tyrosine phosphatase, catalytic
IPR014020	Tensin phosphatase, C2 domain
IPR016130	Protein-tyrosine phosphatase, active site
IPR017361	Bifunctional phosphatidylinositol trisphosphate phosphatase/dual specificity phosphatase PTEN
IPR029021	Protein-tyrosine phosphatase-like
IPR029023	Tensin-type phosphatase domain
IPR035892	C2 domain superfamily
IPR045101	PTEN, phosphatase domain

Pfam	Pfam name
PF10409	C2 domain of PTEN tumour-suppressor protein

Reactome

Reactome	Reactome Name	Node type	Reactome Root	Reactome Root Name
R-HSA-1660499	Synthesis of PIPs at the plasma membrane	Leaf	R-HSA-1430728	Metabolism
R-HSA-1855204	Synthesis of IP3 and IP4 in the cytosol	Leaf	R-HSA-1430728	Metabolism
R-HSA-199418	Negative regulation of the PI3K/AKT network	Internal node	R-HSA-162582	Signal Transduction
R-HSA-202424	Downstream TCR signaling	Leaf	R-HSA-168256	Immune System
R-HSA-5628897	TP53 Regulates Metabolic Genes	Leaf	R-HSA-74160	Gene expression (Transcription)
R-HSA-5674404	PTEN Loss of Function in Cancer	Leaf	R-HSA-1643685	Disease
R-HSA-5689880	Ub-specific processing proteases	Leaf	R-HSA-392499	Metabolism of proteins
R-HSA-5689896	Ovarian tumor domain proteases	Leaf	R-HSA-392499	Metabolism of proteins
R-HSA-8943723	Regulation of PTEN mRNA translation	Internal node	R-HSA-162582	Signal Transduction
R-HSA-8948747	Regulation of PTEN localization	Leaf	R-HSA-162582	Signal Transduction
R-HSA-8948751	Regulation of PTEN stability and activity	Leaf	R-HSA-162582	Signal Transduction
R-HSA-8986944	Transcriptional Regulation by MECP2	Internal node	R-HSA-74160	Gene expression (Transcription)

Subcellular location

Location	ECO term	Pubmed
Cell projection, dendritic spine	ECO:0000250
Cytoplasm	ECO:0000269	PubMed:15987703
Cytoplasm	ECO:0000269	PubMed:18716620
Cytoplasm	ECO:0000269	PubMed:19473982
Cytoplasm	ECO:0000269	PubMed:25801959
Cytoplasm	ECO:0000269	PubMed:9187108
Nucleus	ECO:0000269	PubMed:15987703
Nucleus	ECO:0000269	PubMed:18716620
Nucleus	ECO:0000269	PubMed:19473982
Nucleus	ECO:0000269	PubMed:25801959
Nucleus, PML body	ECO:0000269	PubMed:18716620
Postsynaptic density	ECO:0000250
Secreted	ECO:0000269	PubMed:23744781
Secreted	ECO:0000269	PubMed:24768297

Interactor | Variant | Drug

Phenotype

HPO ID	HPO name
HP:0000973	Cutis laxa
HP:0001290	Generalized hypotonia
HP:0000717	Autism
HP:0001555	Asymmetry of the thorax
HP:0001324	Muscle weakness
HP:0000077	Abnormality of the kidney
HP:0005584	Renal cell carcinoma
HP:0000221	Furrowed tongue
HP:0001888	Lymphopenia
HP:0002516	Increased intracranial pressure
HP:0002463	Language impairment
HP:0002890	Thyroid carcinoma
HP:0006731	Follicular thyroid carcinoma
HP:0010864	Intellectual disability, severe
HP:0001161	Hand polydactyly
HP:0001028	Hemangioma
HP:0001999	Abnormal facial shape
HP:0001482	Subcutaneous nodule
HP:0000972	Palmoplantar hyperkeratosis
HP:0000464	Abnormality of the neck
HP:0012032	Lipoma
HP:0012081	Enlarged cerebellum
HP:0001508	Failure to thrive
HP:0001156	Brachydactyly
HP:0000518	Cataract
HP:0002250	Abnormal large intestine morphology
HP:0500009	Dysplastic gangliocytoma of the cerebellum
HP:0010508	Metatarsus valgus
HP:0001250	Seizure
HP:0000736	Short attention span
HP:0002017	Nausea and vomiting
HP:0007440	Generalized hyperpigmentation
HP:0030257	Freckled genitalia
HP:0007256	Abnormal pyramidal sign
HP:0011098	Speech apraxia
HP:0003829	Typified by incomplete penetrance
HP:0002167	Abnormality of speech or vocalization
HP:0001249	Intellectual disability
HP:0002665	Lymphoma
HP:0005293	Venous insufficiency
HP:0003312	Abnormal form of the vertebral bodies
HP:0002827	Hip dislocation
HP:0000486	Strabismus
HP:0010566	Hamartoma
HP:0100560	Upper limb asymmetry
HP:0000750	Delayed speech and language development
HP:0006740	Transitional cell carcinoma of the bladder
HP:0000343	Long philtrum
HP:0012520	Dilation of Virchow-Robin spaces
HP:0001643	Patent ductus arteriosus
HP:0011220	Prominent forehead
HP:0002035	Rectal prolapse
HP:0005595	Generalized hyperkeratosis
HP:0002243	Protein-losing enteropathy
HP:0002750	Delayed skeletal maturation
HP:0002705	High, narrow palate
HP:0002808	Kyphosis
HP:0100521	Neoplasm of the thymus
HP:0000238	Hydrocephalus
HP:0011276	Vascular skin abnormality
HP:0004481	Progressive macrocephaly
HP:0002576	Intussusception
HP:0011304	Broad thumb
HP:0000098	Tall stature
HP:0003199	Decreased muscle mass
HP:0012110	Hypoplasia of the pons
HP:0006824	Cranial nerve paralysis
HP:0200008	Intestinal polyposis
HP:0007818	Central heterochromia
HP:0005374	Cellular immunodeficiency
HP:0000853	Goiter
HP:0030406	Primary peritoneal carcinoma
HP:0002003	Large forehead
HP:0000036	Abnormal penis morphology
HP:0004490	Calvarial hyperostosis
HP:0008675	Enlarged polycystic ovaries
HP:0001548	Overgrowth
HP:0001263	Global developmental delay
HP:0100526	Neoplasm of the lung
HP:0000463	Anteverted nares
HP:0007899	Retinal nonattachment
HP:0010807	Open bite
HP:0010784	Uterine neoplasm
HP:0200063	Colorectal polyposis
HP:0000771	Gynecomastia
HP:0012125	Prostate cancer
HP:0030680	Abnormality of cardiovascular system morphology
HP:0000541	Retinal detachment
HP:0002652	Skeletal dysplasia
HP:0031447	Penile freckling
HP:0003073	Hypoalbuminemia
HP:0001387	Joint stiffness
HP:0001004	Lymphedema
HP:0007392	Excessive wrinkled skin
HP:0001645	Sudden cardiac death
HP:0001317	Abnormal cerebellum morphology
HP:0000303	Mandibular prognathia
HP:0000494	Downslanted palpebral fissures
HP:0011027	Abnormal fallopian tube morphology
HP:0001167	Abnormal finger morphology
HP:0000252	Microcephaly
HP:0002757	Recurrent fractures
HP:0000403	Recurrent otitis media
HP:0003715	Myofibrillar myopathy
HP:0010816	Epidermal nevus
HP:0005692	Joint hyperflexibility
HP:0001334	Communicating hydrocephalus
HP:0010614	Fibroma
HP:0001883	Talipes
HP:0100543	Cognitive impairment
HP:0000034	Hydrocele testis
HP:0004099	Macrodactyly
HP:0000545	Myopia
HP:0003764	Nevus
HP:0100026	Arteriovenous malformation
HP:0010797	Hemangioblastoma
HP:0200034	Papule
HP:0000276	Long face
HP:0001000	Abnormality of skin pigmentation
HP:0010174	Broad phalanx of the toes
HP:0007266	Cerebral dysmyelination
HP:0001744	Splenomegaly
HP:0000828	Abnormality of the parathyroid gland
HP:0000147	Polycystic ovaries
HP:0025318	Ovarian carcinoma
HP:0100579	Mucosal telangiectasiae
HP:0000347	Micrognathia
HP:0003196	Short nose
HP:0100559	Lower limb asymmetry
HP:0004418	Thrombophlebitis
HP:0000682	Abnormal dental enamel morphology
HP:0100646	Thyroiditis
HP:0004420	Arterial thrombosis
HP:0001388	Joint laxity
HP:0000557	Buphthalmos
HP:0005306	Capillary hemangioma
HP:0100013	Neoplasm of the breast
HP:0007565	Multiple cafe-au-lait spots
HP:0000508	Ptosis
HP:0001072	Thickened skin
HP:0000138	Ovarian cyst
HP:0000006	Autosomal dominant inheritance
HP:0000982	Palmoplantar keratoderma
HP:0009594	Retinal hamartoma
HP:0002014	Diarrhea
HP:0010497	Sirenomelia
HP:0000400	Macrotia
HP:0006101	Finger syndactyly
HP:0003002	Breast carcinoma
HP:0002007	Frontal bossing
HP:0001627	Abnormal heart morphology
HP:0001053	Hypopigmented skin patches
HP:0000501	Glaucoma
HP:0002194	Delayed gross motor development
HP:0001256	Intellectual disability, mild
HP:0001520	Large for gestational age
HP:0000836	Hyperthyroidism
HP:0000520	Proptosis
HP:0025190	Bilateral tonic-clonic seizure with generalized onset
HP:0010619	Fibroadenoma of the breast
HP:0001597	Abnormality of the nail
HP:0011800	Midface retrusion
HP:0100777	Exostoses
HP:0002239	Gastrointestinal hemorrhage
HP:0000767	Pectus excavatum
HP:0000369	Low-set ears
HP:0002119	Ventriculomegaly
HP:0002858	Meningioma
HP:0009721	Shagreen patch
HP:0002080	Intention tremor
HP:0012114	Endometrial carcinoma
HP:0004326	Cachexia
HP:0007703	Abnormality of retinal pigmentation
HP:0002123	Generalized myoclonic seizure
HP:0007400	Irregular hyperpigmentation
HP:0002240	Hepatomegaly
HP:0000189	Narrow palate
HP:0001100	Heterochromia iridis
HP:0100006	Neoplasm of the central nervous system
HP:0002141	Gait imbalance
HP:0008069	Neoplasm of the skin
HP:0002204	Pulmonary embolism
HP:0010516	Thymus hyperplasia
HP:0001048	Cavernous hemangioma
HP:0000445	Wide nose
HP:0000331	Short chin
HP:0000286	Epicanthus
HP:0009023	Abdominal wall muscle weakness
HP:0001252	Hypotonia
HP:0010788	Testicular neoplasm
HP:0005490	Postnatal macrocephaly
HP:0002315	Headache
HP:0002170	Intracranial hemorrhage
HP:0012062	Bone cyst
HP:0001933	Subcutaneous hemorrhage
HP:0001513	Obesity
HP:0001822	Hallux valgus
HP:0001635	Congestive heart failure
HP:0004374	Hemiplegia/hemiparesis
HP:0002365	Hypoplasia of the brainstem
HP:0003019	Abnormality of the wrist
HP:0000130	Abnormality of the uterus
HP:0100774	Hyperostosis
HP:0200016	Acrokeratosis
HP:0001251	Ataxia
HP:0000821	Hypothyroidism
HP:0002101	Abnormal lung lobation
HP:0012740	Papilloma
HP:0012844	Trichilemmoma
HP:0000854	Thyroid adenoma
HP:0000160	Narrow mouth
HP:0003202	Skeletal muscle atrophy
HP:0001631	Atrial septal defect
HP:0100759	Clubbing of fingers
HP:0006608	Midclavicular hypoplasia
HP:0009804	Tooth agenesis
HP:0003581	Adult onset
HP:0002573	Hematochezia
HP:0000565	Esotropia
HP:0100641	Neoplasm of the adrenal cortex
HP:0004390	Hamartomatous polyposis
HP:0004313	Decreased circulating antibody level
HP:0001428	Somatic mutation
HP:0001140	Limbal dermoid
HP:0002597	Abnormality of the vasculature
HP:0001892	Abnormal bleeding
HP:0000965	Cutis marmorata
HP:0002282	Gray matter heterotopia
HP:0000337	Broad forehead
HP:0002894	Neoplasm of the pancreas
HP:0001102	Angioid streaks of the fundus
HP:0000268	Dolichocephaly
HP:0002664	Neoplasm
HP:0000158	Macroglossia
HP:0011386	Narrow internal auditory canal
HP:0001943	Hypoglycemia
HP:0011147	Typical absence seizure
HP:0001009	Telangiectasia
HP:0001681	Angina pectoris
HP:0002719	Recurrent infections
HP:0005916	Abnormal metacarpal morphology
HP:0010819	Atonic seizure
HP:0000256	Macrocephaly
HP:0002584	Intestinal bleeding
HP:0002027	Abdominal pain
HP:0000670	Carious teeth
HP:0000053	Macroorchidism
HP:0004209	Clinodactyly of the 5th finger
HP:0100764	Lymphangioma
HP:0100615	Ovarian neoplasm
HP:0002253	Colonic diverticula
HP:0001363	Craniosynostosis
HP:0100555	Asymmetric growth
HP:0007033	Cerebellar dysplasia
HP:0000567	Chorioretinal coloboma
HP:0000872	Hashimoto thyroiditis
HP:0005227	Adenomatous colonic polyposis
HP:0009720	Adenoma sebaceum
HP:0100730	Bronchogenic cyst
HP:0000873	Diabetes insipidus
HP:0002126	Polymicrogyria
HP:0007552	Abnormal subcutaneous fat tissue distribution
HP:0002816	Genu recurvatum
HP:0000107	Renal cyst
HP:0012733	Macule
HP:0005505	Refractory anemia
HP:0001320	Cerebellar vermis hypoplasia
HP:0003198	Myopathy
HP:0030731	Carcinoma
HP:0040194	Increased head circumference
HP:0000587	Abnormal optic nerve morphology
HP:0000324	Facial asymmetry
HP:0001270	Motor delay
HP:0100031	Neoplasm of the thyroid gland
HP:0004422	Biparietal narrowing
HP:0004322	Short stature
HP:0000365	Hearing impairment
HP:0002861	Melanoma
HP:0000327	Hypoplasia of the maxilla
HP:0012871	Varicocele
HP:0000820	Abnormality of the thyroid gland
HP:0000040	Long penis
HP:0009928	Thick nasal alae
HP:0000615	Abnormal pupil morphology
HP:0001031	Subcutaneous lipoma
HP:0002650	Scoliosis
HP:0002230	Generalized hirsutism
HP:0005280	Depressed nasal bridge
HP:0001519	Disproportionate tall stature
HP:0004942	Aortic aneurysm
HP:0003593	Infantile onset
HP:0000995	Melanocytic nevus
HP:0002539	Cortical dysplasia
HP:0010609	Skin tags
HP:0002249	Melena
HP:0004349	Reduced bone mineral density
HP:0000218	High palate
HP:0100780	Conjunctival hamartoma
HP:0000311	Round face
HP:0002208	Coarse hair
HP:0100761	Visceral angiomatosis
HP:0001903	Anemia
HP:0007206	Hemimegalencephaly
HP:0000316	Hypertelorism

Tissue and cell type

Tissue	Cell type	Expression level	Reliability
adipose tissue	adipocytes	Low	Approved
adrenal gland	glandular cells	High	Approved
appendix	glandular cells	High	Approved
bone marrow	hematopoietic cells	High	Approved
breast	glandular cells	Medium	Approved
bronchus	respiratory epithelial cells	High	Approved
caudate	neuronal cells	Medium	Approved
cerebral cortex	neuronal cells	Medium	Approved
cervix	glandular cells	Medium	Approved
cervix	squamous epithelial cells	Medium	Approved
colon	glandular cells	High	Approved
duodenum	glandular cells	Medium	Approved
endometrium 1	cells in endometrial stroma	Low	Approved
endometrium 1	glandular cells	Low	Approved
endometrium 2	glandular cells	Low	Approved
epididymis	glandular cells	Medium	Approved
esophagus	squamous epithelial cells	High	Approved
fallopian tube	glandular cells	High	Approved
gallbladder	glandular cells	Medium	Approved
heart muscle	cardiomyocytes	Medium	Approved
hippocampus	neuronal cells	Medium	Approved
kidney	cells in glomeruli	Low	Approved
kidney	cells in tubules	Low	Approved
lung	alveolar cells	High	Approved
lymph node	non-germinal center cells	Medium	Approved
nasopharynx	respiratory epithelial cells	High	Approved
oral mucosa	squamous epithelial cells	Medium	Approved
ovary	follicle cells	Medium	Approved
pancreas	exocrine glandular cells	Medium	Approved
pancreas	pancreatic endocrine cells	Low	Approved
parathyroid gland	glandular cells	High	Approved
prostate	glandular cells	Low	Approved
rectum	glandular cells	High	Approved
salivary gland	glandular cells	Medium	Approved
seminal vesicle	glandular cells	High	Approved
skeletal muscle	myocytes	Medium	Approved
skin 1	Langerhans	Low	Approved
skin 1	keratinocytes	Low	Approved
skin 2	epidermal cells	Medium	Approved
small intestine	glandular cells	High	Approved
smooth muscle	smooth muscle cells	High	Approved
spleen	cells in red pulp	Medium	Approved
spleen	cells in white pulp	Low	Approved
stomach 1	glandular cells	Low	Approved
stomach 2	glandular cells	Low	Approved
testis	elongated or late spermatids	Medium	Approved
testis	pachytene spermatocytes	Medium	Approved
testis	round or early spermatids	Medium	Approved
thyroid gland	glandular cells	Medium	Approved
tonsil	germinal center cells	Medium	Approved
tonsil	non-germinal center cells	Medium	Approved
tonsil	squamous epithelial cells	Medium	Approved
urinary bladder	urothelial cells	Medium	Approved
vagina	squamous epithelial cells	Medium	Approved

Disease name	MONDO ID	ICD10	ICD10 chapter	OMIM	Orphanet
laryngeal squamous cell carcinoma	MONDO:0005595	C32	chapter2, Neoplasms		Orphanet:494550
bannayan-riley-ruvalcaba syndrome	MONDO:0007924	Q87	chapter17, Congenital malformations, deformations and chromosomal abnormalities	OMIM:153480	Orphanet:109
cowden syndrome 1	MONDO:0008021	Q85	chapter17, Congenital malformations, deformations and chromosomal abnormalities	OMIM:158350	Orphanet:2969
cowden syndrome 1	MONDO:0008021	Q85	chapter17, Congenital malformations, deformations and chromosomal abnormalities	OMIM:158350	Orphanet:65285
ovarian cancer	MONDO:0008170	C56	chapter2, Neoplasms	OMIM:167000	Orphanet:213500
proteus syndrome	MONDO:0008318	Q87	chapter17, Congenital malformations, deformations and chromosomal abnormalities	OMIM:176920	Orphanet:744
vacterl with hydrocephalus	MONDO:0010172	Q87	chapter17, Congenital malformations, deformations and chromosomal abnormalities	OMIM:276950	Orphanet:3412
macrocephaly-autism syndrome	MONDO:0011537	-	-	OMIM:605309	Orphanet:210548
bilateral frontoparietal polymicrogyria	MONDO:0011738	Q04	chapter17, Congenital malformations, deformations and chromosomal abnormalities	OMIM:606854	Orphanet:101070
familial meningioma	MONDO:0011789	D32	chapter2, Neoplasms	OMIM:607174
endometrial cancer	MONDO:0011962	C54	chapter2, Neoplasms	OMIM:608089
glioma susceptibility 2	MONDO:0013092	D43	chapter2, Neoplasms	OMIM:613028
segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome	MONDO:0015293	Q87	chapter17, Congenital malformations, deformations and chromosomal abnormalities		Orphanet:137608
familial multiple meningioma	MONDO:0016995	D32	chapter2, Neoplasms		Orphanet:263662
proteus-like syndrome	MONDO:0017571	Q87	chapter17, Congenital malformations, deformations and chromosomal abnormalities		Orphanet:2969
activated pi3k-delta syndrome	MONDO:0018338	D81	chapter3, Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism		Orphanet:397596
acute megakaryoblastic leukemia	MONDO:0018872	C94	chapter2, Neoplasms		Orphanet:518
lhermitte-duclos disease	MONDO:0019002	Q04	chapter17, Congenital malformations, deformations and chromosomal abnormalities		Orphanet:65285
mediastinal germ cell tumor	MONDO:0021067	-	-
squamous cell carcinoma of lip	MONDO:0021427	C00	chapter2, Neoplasms		Orphanet:502366
familial prostate carcinoma	MONDO:0023122	D07	chapter2, Neoplasms	OMIM:176807	Orphanet:1331
hypopharynx squamous cell carcinoma	MONDO:0044638	C13	chapter2, Neoplasms		Orphanet:494547
oropharynx squamous cell carcinoma	MONDO:0044704	C10	chapter2, Neoplasms		Orphanet:500478
paranasal sinus squamous cell carcinoma	MONDO:0044705	D02	chapter2, Neoplasms		Orphanet:500464
salivary gland squamous cell carcinoma	MONDO:0044740	C07	chapter2, Neoplasms		Orphanet:500481
salivary gland squamous cell carcinoma	MONDO:0044740	C08	chapter2, Neoplasms		Orphanet:500481

Summary of P60484

Gene: PTEN, MMAC1, TEP1
Protein: Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN

Structure

GO term

InterPro / Pfam

Reactome

Subcellular location

Interactor | Variant | Drug

Phenotype

Tissue and cell type

Disease

Summary of P60484

Gene: PTEN, MMAC1, TEP1 Protein: Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN

Structure

GO term

InterPro / Pfam

Reactome

Subcellular location

Interactor | Variant | Drug

Phenotype

Tissue and cell type

Disease

Gene: PTEN, MMAC1, TEP1
Protein: Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN