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Relevance to Autism

Several studies have found rare single gene variations in the PTEN gene that have associations with autism, including syndromic associations such as Cowden syndrome (Goffin et al., 2001), where a subpopulation of individuals with the syndrome develop autism.

Molecular Function

The protein encoded 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.

External Links

       

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
PTEN mutation in a family with Cowden syndrome and autism.
Cowden syndrome
ASD
Positive association
De novo mutations in epileptic encephalopathies.
Epilepsy
IS, LGS, DD, ID, ASD, ADHD
Positive Association
Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations.
extreme macrocephaly
ASD
Support
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.
ASD
Support
Novel PTEN germline mutation in a family with mild phenotype: difficulties in genetic counseling.
Learning disabilities, macrocephaly
ID
Support
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
ASD
Support
Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders.
ASD
Support
Autistic spectrum disorder in a 9-year-old girl with macrocephaly.
ASD
Support
Autism-epilepsy phenotype with macrocephaly suggests PTEN, but not GLIALCAM, genetic screening.
ASD
ID, epilepsy
Support
Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly.
ASD
Support
Biochemical screening and PTEN mutation analysis in individuals with autism spectrum disorders and macrocephaly.
ASD
DD, epilepsy
Highly Cited
Negative regulation of PKB/Akt-dependent cell survival by the tumor suppressor PTEN.
Highly Cited
The tumor suppressor, PTEN/MMAC1, dephosphorylates the lipid second messenger, phosphatidylinositol 3,4,5-trisphosphate.
Highly Cited
PTEN, a putative protein tyrosine phosphatase gene mutated in human brain, breast, and prostate cancer.
Recent Recommendation
Electrical signals control wound healing through phosphatidylinositol-3-OH kinase-gamma and PTEN.
Recent Recommendation
Loss of mTOR repressors Tsc1 or Pten has divergent effects on excitatory and inhibitory synaptic transmission in single hippocampal neuron cultures.
Recent Recommendation
Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations.
Recent Recommendation
PTEN knockdown alters dendritic spine/protrusion morphology, not density.
Recent Recommendation
A secreted PTEN phosphatase that enters cells to alter signaling and survival.
Recent Recommendation
PTEN is recruited to the postsynaptic terminal for NMDA receptor-dependent long-term depression.
Recent Recommendation
Free fatty acids inhibit insulin signaling-stimulated endothelial nitric oxide synthase activation through upregulating PTEN or inhibiting Akt kinase.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN204R001 
 Nonsense 
 T534G 
 Tyr178X 
 Familial 
 Maternal 
  
 GEN204R002 
 Missense 
 A>G 
 His93Arg 
 De novo 
  
 Simplex 
 GEN204R003 
 Missense 
 A>G 
 Asp252Gly 
 De novo 
  
 Simplex 
 GEN204R004 
 Missense 
 T>C 
 Phe241Ser 
 De novo 
  
 Simplex 
 GEN204R005 
 Substitution 
 C-1088T 
 N/A 
  
  
  
 GEN204R006 
 Substitution 
 C-1084T 
 N/A 
 Familial 
 Maternal 
 Multiplex 
 GEN204R007 
 Substitution 
 C-1026A 
 N/A 
 Familial 
 Maternal 
  
 GEN204R008 
 Substitution 
 G-903A 
 N/A 
  
  
  
 GEN204R009 
 Substitution 
 G-903A 
 N/A 
  
  
  
 GEN204R010 
 Missense 
 C66G 
 D22E 
 Familial 
 Paternal 
 Multiplex 
 GEN204R011 
 Substitution 
 T to C 
 N/A 
 Familial 
 Maternal 
  
 GEN204R012 
 Missense 
 G976A 
 D326N 
 De novo 
  
  
 GEN204R013 
 Nonsense 
 N/A 
 R335X 
 De novo 
  
  
 GEN204R014 
 Missense 
 A to G 
 Thr to Ala 
 De novo 
  
 Simplex 
 GEN204R015 
 Missense 
 C to G 
 Phe to Leu 
 Unknown 
  
 Simplex 
 GEN204R016 
 Deletion 
 delTTAGT 
 N/A 
 Unknown 
  
 Simplex 
 GEN204R017 
 Missense 
 C to A 
 Thr167Asn 
 De novo 
  
 Simplex 
 GEN204R018 
 Missense 
 C>T 
 Thr131Ile 
 De novo 
  
 Simplex 
 GEN204R019 
 Frameshift insertion 
 ins(A) 
 Cys136MetfsX44 
 De novo 
  
 Simplex 
 GEN204R020 
 Nonsense 
 C>T 
 Gln214X 
 Familial 
 Maternal 
 Simplex 
 GEN204R021 
 Missense 
 c.402G>C 
 Met134Ile 
 Familial 
 Maternal 
 Multi-generational 
 GEN204R022 
 Frameshift insertion 
 c.420_421insA 
 H141TfxX39 
 Unknown 
  
 Unknown 
 GEN204R023 
 Missense 
 c.208C>G 
 L70V 
 Unknown 
  
 Unknown 
 GEN204R024 
 Missense 
 c.3G>T 
 M1I 
 Unknown 
  
 Unknown 
 GEN204R025 
 Nonsense 
 c.1003C>T 
 R335X 
 Unknown 
  
 Unknown 
 GEN204R026 
 Splice-site 
 c.209 + 5G>A 
  
 Unknown 
  
 Unknown 
 GEN204R027 
 Missense 
 C/T 
  
 De novo 
  
  
 GEN204R028 
 Frameshift deletion 
 c.43delA 
 R15DfsX9 
 Unknown 
  
  

Common

No Common Variants Available



Model Summary

Mutant mice display abnormal social interaction and exaggerated responses to sensory stimuli.

External Links

AllenBrainAtlas   MGI Logo  Entrez Gene

References

Type
Title
Author, Year
Primary
Pten regulates neuronal arborization and social interaction in mice.
Primary
Pharmacological inhibition of mTORC1 suppresses anatomical, cellular, and behavioral abnormalities in neural-specific Pten knock-out mice.
Additional
Mitochondrial dysfunction in Pten haplo-insufficient mice with social deficits and repetitive behavior: interplay between Pten and p53.
Additional
Dysregulation of synaptic plasticity precedes appearance of morphological defects in a Pten conditional knockout mouse model of autism.

PTEN_1_CN_KO

Model Type: Genetic
Model Genotype: Homozygous- cell specific
Mutation: Cre-LoxP mediated conditional deletion of Pten in limited differentiated neuronal populations in the cerebral cortex and hippocampus
Allele Type: Conditional (Knock out)
Strain of Origin: C57/BL6
Genetic Background: C57/BL6
ES Cell Line: Not Specified
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

PTEN_2_CN_KO_HT

Model Type: Genetic
Model Genotype: Heterzygous
Mutation: Cre-loxP mediated deletion of exon 5 of Pten specifically in neural tissues
Allele Type: Conditional (Knock out)
Strain of Origin: Not specified
Genetic Background: Not Specified
ES Cell Line: Not specified
Mutant ES Cell Line: Not specified
Model Source: Not specified

PTEN_3_CN_KO_HM

Model Type: Genetic
Model Genotype: Homozygous- cell specific
Mutation: cre-loxP mediated deletion of Pten gene in granule cells of dentate gyrus and pyramidal neurons of hippocampal CA3 and a subset of postmitotic neruons in the cortex as well, using neuron-specific enolase promoter
Allele Type: Conditional (Knock out)
Strain of Origin: Not specified
Genetic Background: C57BL/6
ES Cell Line: Not specified
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

PTEN_1_CN_KO

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Seizures1
Abnormal
Description: Sporadic seizure propensity during light phase; Repetitive spike-wave patterns with continous spike-wave bursting
Exp Paradigm: Subjective Observation; Analysis of EEG/EMG recordings of mice
 Subjective Observation; Analysis of EEG/EMG recordings of mice
 8-9 months
Axonal growth1
Abnormal
Description: Hypertrophic and ectopic axonal tract with increased synapses in Dentate Gyrus
Exp Paradigm: Immunohistochemistry with antibodies to synapsin (presynaptic marker) and calbindin (expressed in soma and processes); Electron microscopic analysis of the inner molecular layer of dentate gyri
 Immunohistochemical Analysis
 10 months
Brain morphology1
Abnormal
Description: Progressive macrocephaly in forebrain; foliation of DG and compression of CA1; increased neuronal size with soma hypertrophy
Exp Paradigm: General Observation; Hematoxylin/Eoslin staining on coronal sections
 H&E Staining
 Unreported
Dendrite growth1
Abnormal
Description: Dendritic hypertrophy, ectopy, and increased spine density in cerebral cortex and dentate gyri
Exp Paradigm: Golgi staining; Immunohistochemistry with antibodies to dendritic markers; Electron microscopic analysis of cortex and dentate gyri
 Immunohistochemical Analysis
 3 - 8months
Downstream targets phosphorylation1
Increased
Description: Increased phosphorylation of downstream targets of Pten such as P-Akt, P-S6, P-Gsk3, Tuberin
Exp Paradigm: Immunohistochemical and Western Blot analysis
 Immunohistochemical Analysis
 2 months
Social Interaction1
Decreased
Description: Decreased social interaction
Exp Paradigm: Direct contacts between genotypically identical test
 Direct contacts between genotypically identical test
 Unreported
Social Interaction1
Decreased
Description: Decreased social interaction
Exp Paradigm: Social interaction between social target and empty cage in open field
 Social interaction between social target and empty cage in open field
 Unreported
Social Learning1
Decreased
Description: Decreased social learning
Exp Paradigm: Direct contacts between genotypically identical test
 Direct contacts between genotypically identical test
 Unreported
Nest building1
Decreased
Description: Decreased nest building activity
Exp Paradigm: Nest forming test for home cage behavior
 Nest forming test for home cage behavior
 Unreported
Social approach1
Decreased
Description: Decreased social approach
Exp Paradigm: Social preference test in tripartite chamber
 Social preference test in tripartite chamber
 Unreported
Nursing1
Abnormal
Description: Abnormal maternal nursing
Exp Paradigm: Pup survival rate
 Pup survival rate
 Unreported
General Locomotor Activity1
Abnormal
Description: Abnormal Locomotor Activity; Hyperactive in light boxes, normal in dark boxes
Exp Paradigm: Open field test
 Open field test
 6 weeks
Sensorimotor Gating1
Abnormal
Description: Significantly impaired startle response
Exp Paradigm: Prepulse inhibition of the acoustic startle response as a measure of sensorimotor gating.
 Prepulse inhibition of the acoustic startle response as a measure of sensorimotor gating.
 6 weeks
Startle Reflex1
Increased
Description: Increased Startle Reflex with habituation to repeated stimuli
Exp Paradigm: Response to 120 dB white noise stimulus
 Response to 120 dB white noise stimulus
 6 weeks
Spatial Reference Memory1
Decreased
Description: Decreased rate of acquisition of Spatial Reference Memory
Exp Paradigm: Morris water maze task
 Morris water maze task
 Unreported
General Characteristics1
 No Change
 General Observation
 4-5 weeks
Anxiety1
 No Change
 Elevated plus maze test for anxiety
 Unreported
Cued conditioning anamoly1
 No Change
 Cued and contextual fear tasks
 Unreported
Motor Coordination1
 No Change
 Accelerating rota-rod test
 Unreported
Motor Strength and Endurance1
 No Change
 Vertical pole and dowel test
 Unreported
Olfaction1
 No Change
 Buried food finding test of olfaction
 Unreported
Inanimate Object Preference1
 No Change
 Interaction with inanimate object
 Unreported
 Not Reported: Circadian sleep/wake cycle ,   Communications ,   Homeostasis ,   Immune Response ,   Neurophysiology ,   Repetitive behavior ,  

PTEN_2_CN_KO_HT

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Brain Size1
Increased
Description: Increased enlargement of cortex and hippocampus over cerebellum
 
 20-29 weeks
Brain Weight1
Increased
Description: Increased brain weight (normalized to body weight)
 
 20-29 weeks
Nitrative Stress1
Increased
Description: Increased nitrative/oxidative stress indicated by increased nitrated Tyr in ATPase beta-subunit
Exp Paradigm: Mitochondrial enzymaic and complex activity measurement from isolated mitochondria from hippocampus and cerebellum
 Mitochondrial enzymatic and complex activity measurement
 20-29 weeks
p53 downstream effectors levels1
Decreased
Description: Decreased levels of p21, SCO2 in cerebellum and hippocampus
Exp Paradigm: Western Blot Analysis
 Western Blot analysis
 20-29 weeks
Cytochrome C oxidase activity1
Decreased
Description: Decreased cytochrome c oxidase activity in cerebellum and hippocampus
Exp Paradigm: Mitochondrial enzymaic and complex activity measurement from isolated mitochondria from hippocampus and cerebellum
 Mitochondrial enzymatic and complex activity measurement
 20-29 weeks
p53 protein expression1
Decreased
Description: Decreased p53 protein expression in cerebellum
Exp Paradigm: Western Blot Analysis
 Western Blot analysis
 20-29 weeks
GFAP Protein Levels1
Increased
Description: Increased levels of glial fibrillary acidic protein
Exp Paradigm: Western Blot analysis normalized to actin
 Western Blot analysis
 20-29 weeks
Pten Protein Expression1
Decreased
Description: Decreased levels of Pten protein expression in hippocampus and cerebellum
Exp Paradigm: Western Blot Analysis
 Western Blot analysis
 4-29 weeks
mtDNA copy number1
Increased
Description: Increased mtDNA copy number in cerebellum
Exp Paradigm: Quantitative real-time PCR with dual-labeled probes
 QPCR analysis
 8-13 weeks
Sociability1
Decreased
Description: Decreased sociability demonstrated by decreased time spent with social target with same number of entries towards social side and decreased time spent sniffing social target with no change in sniff frequency
Exp Paradigm: Socialization trial with measures of number of entires and time spent in each side of box, and time spent sniffing each wire cage
 Socialization trial
 20-29 weeks
Social Novelty1
Decreased
Description: Decreased social novelty as demonstrated by lower novel to total side time ratio and lower time spent sniffing novel mouse normalized by total sniff time
Exp Paradigm: Social novelty preference trial
 Novelty Preference Trial
 20-29 weeks
Self Grooming1
Increased
Description: Increased self grooming indicated by twice the frequency of self grooming
Exp Paradigm: Observation of self-grooming activities
 Observation of self-grooming activities
 20-29 weeks
ETC Activity1
 No Change
 Mitochondrial enzymatic and complex activity measurement
 4-29 weeks
Mitochondrial Biogenesis1
 No Change
 Mitochondrial enzymatic and complex activity measurement
 4-6 weeks
Mitochondrial complex activity1
 No Change
 Mitochondrial enzymatic and complex activity measurement
 8-13 weeks
p53 protein expression1
 No Change
 Western Blot analysis
 Cortex: 4-29 weeks; Hippocampus & Cerebellum: 4-6,
Pten Protein Expression1
 No Change
 Western Blot analysis
 4-29 weeks
Self Grooming1
 No Change
 Observation of self-grooming activities
 8-13 weeks
Sociability1
 No Change
 Socialization trial
 8-13 weeks
Social Novelty1
 No Change
 Novelty Preference Trial
 8-13 weeks
 Not Reported: Circadian sleep/wake cycle ,   Communications ,   Developmental profile ,   Emotion ,   Homeostasis ,   Immune Response ,   Learning & memory ,   Maternal behavior ,   Motor phenotype ,   Neurophysiology ,   Seizure ,   Sensory ,  

PTEN_3_CN_KO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Synaptic Plasticity1
Increased
Description: Increased synaptic plasticity as assessed by TBS-LTP at DGC synapse
Exp Paradigm: Whole cell recordings in the medial prefrontal pathway
 Whole cell recordings
 8-12 weeks
Presynaptic Function1
Decreased
Description: Decreased presynaptic function as measured by paired pulse ratio (PPR) at DGC synapse
Exp Paradigm: Whole cell recordings in the medial prefrontal pathway
 Whole cell recordings
 14-19 weeks
Synaptic Plasticity1
Decreased
Description: Decreased synaptic plasticity as assessed by impaired TBS-LTP at DGC synapses
Exp Paradigm: Whole cell recordings in the medial prefrontal pathway
 Whole cell recordings
 14-19 weeks; 20-30 weeks
Synaptic Plasticity1
Decreased
Description: Decreased synaptic plasticity as assessed through mGluR-LTD at DGC synapses
Exp Paradigm: Whole cell recordings in the medial prefrontal pathway
 Whole cell recordings
 8-12 weeks; 14-19 weeks; 20-30 weeks
Synaptic Plasticity1
Decreased
Description: Decreased synaptic plasticity as assessed through TBS-LTP and HFS-LTP at CA3-CA1 synapses
Exp Paradigm: Whole cell recordings at CA3-CA1 synapses
 Whole cell recordings
 16-20 weeks
Basal Synaptic Transmission1
Increased
Description: Increased basal synaptic transmission as measured with input/output relation at DGC synapse
Exp Paradigm: Whole cell recordings in the medial prefrontal pathway
 Whole cell recordings
 14-19 weeks
Brain morphology1
Abnormal
Description: Abnormal brain morphology indicated by enlarged DGC and hypertrophied mossy fiber projection axons
Exp Paradigm: H&E Staining
 H&E Staining
 20 weeks
Pten Protein Expression1
Decreased
Description: Decreased expression of Pten in DGC and CA3 pyramidal cells
Exp Paradigm: Immunohistochemical analysis and H&E staining
 Immunohistochemical Analysis
 8 weeks
Basal Synaptic Transmission1
 No Change
 Whole cell recordings
 8-12 weeks; 16-20 weeks
Basal Synaptic Transmission1
 No Change
 Whole cell recordings
 8-12 weeks; 20-30 weeks
Presynaptic Function1
 No Change
 Whole cell recordings
 8-12 weeks; 20-30 weeks
Synaptic Plasticity1
 No Change
 Whole cell recordings
 8-12 weeks; 16-20 weeks
Synaptic Plasticity1
 No Change
 Whole cell recordings
 8-12 weeks
 Not Reported: Circadian sleep/wake cycle ,   Communications ,   Developmental profile ,   Emotion ,   Homeostasis ,   Immune Response ,   Learning & memory ,   Maternal behavior ,   Motor phenotype ,   Repetitive behavior ,   Seizure ,   Sensory ,   Social behavior ,  



Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
AKT1 v-akt murine thymoma viral oncogene homolog 1 207 P31749 IP/WB (A549 cells)
Mistafa O 2010
AMHR2 anti-Mullerian hormone receptor, type II 269 Q16671 affinity chromatography/MS (SUDHL-1 cells)
in silico target prediction
Crockett DK 2005
ANG angiogenin, ribonuclease, RNase A family, 5 283 P03950 Y2H
Stelzl U 2005
AR androgen receptor 367 P10275 GST (purified proteins)
IP/WB (CWR22R cells)
IP/WB (LNCaP cells)
Lin HK 2004
ARHGAP26 Rho GTPase activating protein 26 23092 Q9UNA1 affinity chromatography/MS (SUDHL-1 cells)
in silico target prediction
Crockett DK 2005
ATF2 activating transcription factor 2 1386 P15336 ChIP (HAEC cells)
Shen YH 2006
BAP1 BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) 8314 Q92560 affinity chromatography/MS (SUDHL-1 cells)
in silico target prediction
Crockett DK 2005
BMI1 BMI1 polycomb ring finger oncogene 648 P35226 IP/WB (DU145 cells)
IP/WB (HEK293T cells)
Fan C 2009
C19orf29OS chromosome 19 open reading frame 29 opposite strand 404665 Q8N1I8 Y2H
Sakai Y 2011
CASP3 ?caspase 3, apoptosis-related cysteine peptidase 836 P42574 immunodepletion assay (HEK293 cells)
in vitro proteolysis assay
Torres J 2003
CASP8 caspase 8, apoptosis-related cysteine peptidase 841 Q14790 affinity chromatography/MS (SUDHL-1 cells)
IP/WB (SUDHL-1 cells)
Crockett DK 2005
CAV1 caveolin 1, caveolae protein, 22kDa 857 Q03135 IP/WB (A431 cells)
Caselli A 2002
CCNE2 cyclin E2 9134 O96020 affinity chromatography/MS (SUDHL-1 cells)
IP/WB (SUDHL-1 cells)
Crockett DK 2005
CHGB chromogranin B (secretogranin 1) 1114 P05060 Y2H
Stelzl U 2005
COPS6 COP9 constitutive photomorphogenic homolog subunit 6 (Arabidopsis) 10980 Q7L5N1 Y2H
Stelzl U 2005
CRKL v-crk sarcoma virus CT10 oncogene homolog (avian)-like 1399 P46109 affinity chromatography/MS (SUDHL-1 cells)
in silico target prediction
Crockett DK 2005
CSF1 colony stimulating factor 1 (macrophage) 1435 P09603 luciferase reporter assay (MDA-MB-231 cells)
Mandal CC 2012
CSNK2A1 casein kinase 2, alpha 1 polypeptide 1457 P68400 GST (U87 cells)
in vitro kinase assay
IP/WB (HEK293-?nx cells)
Miller SJ 2002
CSNK2A2 ?casein kinase 2, alpha prime polypeptide 1459 P19784 GST (U87 cells)
in vitro kinase assay
IP/WB (HEK293-?nx cells)
Miller SJ 2002
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa 1499 P35222 IP/WB (BxPC-3 cells)
IP/WB (PANC-1 cells)
Vogelmann R 2005
CXXC1 ?CXXC finger protein 1 30827 Q9P0U4 GST (HEK293T cells)
Y2H
Sakai Y 2011
DBF4B DBF4 homolog B (S. cerevisiae) 80174 Q8NFT6 affinity chromatography/MS (SUDHL-1 cells)
in silico target prediction
Crockett DK 2005
DLG1 discs, large homolog 1 (Drosophila) 1739 Q12959 affinity chromatography (A431 cells)
Y2H
Adey NB 2000
EEF1A2 eukaryotic translation elongation factor 1 alpha 2 1917 Q05639 affinity chromatography/MS (SUDHL-1 cells)
in silico target prediction
Crockett DK 2005
EGR1 early growth response 1 1958 P18146 luciferase reporter assay (FRTL-5 cells)
Tell G 2004
ELAVL1 ELAV (embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R) 1994 Q15717 RNP IP/microarray (HeLa cells)
Abdelmohsen K 2009
EML1 echinoderm microtubule associated protein like 1 2009 O00423 Y2H
Sakai Y 2011
EP300 E1A binding protein p300 2033 Q9Y6B2 IP/WB (U2OS cells)
Li AG 2006
ESR1 estrogen receptor 1 2099 P03372 GST (purified proteins)
Lin HK 2004
FBN2 fibrillin 2 2201 P35556 affinity chromatography/MS (SUDHL-1 cells)
in silico target prediction
Crockett DK 2005
FLNA ?filamin A, alpha 2316 P21333 Y2H
Sakai Y 2011
FRK fyn-related kinase 2444 P42685 in vitro kinase assay
IP/WB (MCF7 cells)
IP/WB (U2OS cells)
Yim EK 2009
G3BP2 GTPase activating protein (SH3 domain) binding protein 2 9908 Q9UN86 affinity chromatography/MS (SUDHL-1 cells)
in silico target prediction
Crockett DK 2005
GFRA2 GDNF family receptor alpha 2 2675 E9PD47 affinity chromatography/MS (SUDHL-1 cells)
in silico target prediction
Crockett DK 2005
GLTSCR2 glioma tumor suppressor candidate region gene 2 29997 Q9NZM5 GST (in vitro proteins)
IP/WB (MCF-7 cells)
Y2H
Okahara F 2004
GPR113 G protein-coupled receptor 113 165082 Q8IZF5 affinity chromatography/MS (SUDHL-1 cells)
in silico target prediction
Crockett DK 2005
GSK3B glycogen synthase kinase 3 beta 2932 P49841 metabolic labeing with 32P (purified proteins)
MS (purified proteins)
WB (GST-PTEN)
WB (HEK293T cells)
Al-Khouri AM 2005
HBA1 hemoglobin, alpha 1 3039 P69905 Y2H
Stelzl U 2005
HDAC4 histone deacetylase 4 9759 P56524 ChIP
Reddy SD 2012
INHBE inhibin, beta E 83729 P58166 affinity chromatography/MS (SUDHL-1 cells)
in silico target prediction
Crockett DK 2005
IRS4 insulin receptor substrate 4 8471 O14654 affinity chromatography/MS (SUDHL-1 cells)
IP/WB (SUDHL-1 cells)
Crockett DK 2005
KAT2B K(lysine) acetyltransferase 2B? 8850 Q92831 in vitro acetylation assay
IP/WB (HEK293T cells)
Okumura K 2006
KRT14 keratin 14 3861 P02533 affinity chromatography/MS (SUDHL-1 cells)
in silico target prediction
Crockett DK 2005
LEPREL4 leprecan-like 4 10609 Q92791 affinity chromatography/MS (SUDHL-1 cells)
in silico target prediction
Crockett DK 2005
MAGI2 membrane associated guanylate kinase, WW and PDZ domain containing 2 9863 Q86UL8 GST (in vitro proteins)
IP/WB (HEK293T cells)
IP/WB (mouse brain)
Y2H
Wu X 2000
MAGI3 membrane associated guanylate kinase, WW and PDZ domain containing 3 260425 Q5TCQ9 GST (in vitro proteins)
IP/WB (HEK293 cells)
Y2H
Wu Y 2000
MAP2K6 mitogen-activated protein kinase kinase 6 5608 A8K3Y2 affinity chromatography/MS (SUDHL-1 cells)
in silico target prediction
Crockett DK 2005
MAPK14 mitogen-activated protein kinase 14 1432 Q16539 IP/WB (mouse bone marrow neutrophils)
Ittner A 2012
Mast1 microtubule associated serine/threonine kinase 1 56527 Q9R1L5 GST (COS-7 cells)
in vitro kinase assay
Y2H
Valiente M 2005
MAST2 microtubule associated serine/threonine kinase 2 23139 Q6P0Q8 affinity chromatography (A431 cells)
Y2H
Adey NB 2000
MAST3 microtubule associated serine/threonine kinase 3 23031 O60307 GST (COS-7 cells)
in vitro kinase assay
Y2H
Valiente M 2005
MCRS1 microspherule protein 1 10445 Q96EZ8 GST (HEK293T cells)
GST (in vitro proteins)
IP/WB (HEK293T cells)
Okumura K 2005
MED12 mediator complex subunit 12 9968 Q93074 affinity chromatography/MS (SUDHL-1 cells)
in silico target prediction
Crockett DK 2005
MIR21 microRNA 21 406991 N/A luciferase reporter assay (human glomerular mesangial cells)
Dey N 2012
MIR221 microRNA 221 407006 N/A luciferase reporter assay (MG63 cells)
luciferase reporter assay (SOSP-9607 cells)
Zhao G 2013
MIR29C microRNA 29c 407026 N/A luciferase reporter assay (HEK293T cells)
Tumaneng K 2012
MIR374A microRNA 374a 442919 N/A luciferase reporter assay (4T1 cells)
luciferase reporter assay (MCF7 cells)
Cai J 2013
MME membrane metallo-endopeptidase 4311 P08473 GST (LNCaP cells)
GST (MeWO melanoma cells)
GST (TSU-Pr1 PC cells)
IP/WB (HEK293T cells)
IP/WB (MeWo melanoma cells)
IP/WB (TSU-Pr1 PC cells)
IP/WB (TSU-WT-5 cells)
Sumitomo M 2004
MPRIP myosin phosphatase Rho interacting protein 23164 Q6WCQ1 Y2H
Sakai Y 2011
MTA1 metastasis associated 1 9112 Q13330 ChIP / Luciferase reporter assay
Reddy SD 2012
MVP major vault protein 9961 Q14764 GST (HeLa cells)
IP/WB (HEK293T cells)
Y2H
Yu Z 2002
NDFIP1 Nedd4 family interacting protein 1 80762 Q9BT67 IP/WB (HEK293T cells)
Mund T 2010
NDFIP2 Nedd4 family interacting protein 2 54602 B4DGY6 IP/WB (HEK293T cells)
Mund T 2010
NEDD4 neural precursor cell expressed, developmentally down-regulated 4 4734 P46934 GST (HeLa cells)
in vitro ubiquitination assay
WB (HEK293T cells)
Wang X 2008
PARK7 Parkinson disease (autosomal recessive, early onset) 7 11315 Q99497 GST (in vitro proteins)
IP/WB (NIH-3T3 cells)
Kim YC 2009
PDGFRA platelet-derived growth factor receptor, alpha polypeptide 5156 P16234 affinity chromatography/MS (SUDHL-1 cells)
in silico target prediction
Crockett DK 2005
PDGFRB platelet-derived growth factor receptor, beta polypeptide 5159 P09619 GST (purified proteins)
in vitro binding assay
IP/WB (mesangial cells)
metabolic labeling with 32P (mesangial cells)
WB (mesangial cells)
Mahimainathan L 2004
PICK1 protein interacting with PRKCA 1 9463 Q9NRD5 GST (HEK293T cells)
Y2H
Sakai Y 2011
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha) 5295 P27986 GST (in vitro proteins)
IP/WB (HEK293T cells)
Ittner A 2012
PINK1 PTEN induced putative kinase 1 65018 Q9BXM7 affinity chromatography/MS (SUDHL-1 cells)
in silico target prediction
Crockett DK 2005
PKN2 protein kinase N2 5586 Q16513 affinity chromatography/MS (SUDHL-1 cells)
in silico target prediction
Crockett DK 2005
PPP1CA protein phosphatase 1, catalytic subunit, alpha isozyme 5499 P62136 antibody array (A549 cells)
IP/WB (A549 cells)
Flores-Delgado G 2007
PPP1R10 protein phosphatase 1, regulatory subunit 10 5514 Q96QC0 affinity chromatography/WB (HEK293T cells)
GST (in vitro proteins)
IP/WB (HEK293T cells)
IP/WB (HeLa cells)
Kavela S 2013
PPP2R4 protein phosphatase 2A activator, regulatory subunit 4 5524 Q15257 affinity chromatography/MS (SUDHL-1 cells)
IP/WB (SUDHL-1 cells)
Crockett DK 2005
PPP3CA protein phosphatase 3, catalytic subunit, alpha isozyme 5530 Q08209 IP/WB (A549 cells)
Mistafa O 2010
PTK2 PTK2 protein tyrosine kinase 2 5747 Q05397 WB (NIH-3T3 cells)
WB (U-87MG cells)
Tamura M 1998
PTK2B PTK2B protein tyrosine kinase 2 beta 2185 Q14289 affinity chromatography/MS (SUDHL-1 cells)
in silico target prediction
Crockett DK 2005
PTPN14 protein tyrosine phosphatase, non-receptor type 14 5784 A8K6H6 affinity chromatography/MS (SUDHL-1 cells)
in silico target prediction
Crockett DK 2005
PTPN6 ?protein tyrosine phosphatase, non-receptor type 6 5777 P29350 IP/WB (BT549 cells)
IP/WB (COS-7 cells)
Lu Y 2003
PXN paxillin 5829 P49023 IP/WB (HT-29 cells)
Haier J 2002
QRFPR pyroglutamylated RFamide peptide receptor 84109 Q96P65 affinity chromatography/MS (SUDHL-1 cells)
in silico target prediction
Crockett DK 2005
RPL14 ribosomal protein L14 9045 P50914 affinity chromatography/MS (SUDHL-1 cells)
in silico target prediction
Crockett DK 2005
RPS6KB1 ribosomal protein S6 kinase, 70kDa, polypeptide 1 6198 P23443 IP/WB (MCF-7 cells)
IP/WB (NIH-3T3 cells)
IP/WB (Rat-2 cells)
Liu JL 2007
RPS6KB2 ribosomal protein S6 kinase, 70kDa, polypeptide 2 6199 Q9UBS0 IP/WB (MCF-7 cells)
IP/WB (NIH-3T3 cells)
IP/WB (Rat-2 cells)
Liu JL 2007
RYBP RING1 and YY1 binding protein 23429 Q8N488 Y2H
Sakai Y 2011
SHARPIN SHANK-associated RH domain interactor 81858 Q9H0F6 IP/WB (HEK293T cells)
He L 2010
SLC9A3R1 solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1 9368 O14745 blot overlay assay (GST proteins)
GST (HEK293T cells)
GST (mouse brain)
Y2H
Takahashi Y 2006
SLC9A3R2 solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 2 9351 Q6NTG0 blot overlay assay (GST proteins)
GST (HEK293T cells)
GST (mouse brain)
immunodepletion assay (mouse brain)
IP/WB (LN18 glioblastomoa cells)
IP/WB (mouse lung)
Takahashi Y 2006
SMAD2 SMAD family member 2 4087 Q15796 IP/WB (HaCaT cells)
Hjelmeland AB 2005
SMAD3 SMAD family member 3 4088 P84022 IP/WB (HaCaT cells)
IP/WB (HEK293T cells)
Hjelmeland AB 2005
SMTN smoothelin 6525 B4E229 affinity chromatography/MS (SUDHL-1 cells)
in silico target prediction
Crockett DK 2005
SNAI1 snail homolog 1 (Drosophila)? 6615 O95863 ChIP (SW-620 cells)
EMSA (purified proteins)
luciferase reporter assay (MDCK cells)
Escrivà M 2008
SP1 Sp1 transcription factor 6667 P08047 ChIP (HeLa cells)
luciferase reporter assay (HEK293T cells)
Kou XX 2013
STK11 serine/threonine kinase 11 6794 Q15831 in vitro kinase assay
IP/WB (COS-7 cells)
Y2H
Mehenni H 2005
STUB1 STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase 10273 Q9UNE7 affinity chromatography/WB (HEK293 cells)
GST (BL21DE3 cells)
in vitro ubiquitination assay
IP/WB (HEK293 cells)
Ahmed SF 2012
SUMO1 ?SMT3 suppressor of mif two 3 homolog 1 (S. cerevisiae)? 7341 P63165 affinity chromatography/WB (HEK293 cells)
in vitro sumoylation assay
González-Santamaría J 2012
SUMO2 SMT3 suppressor of mif two 3 homolog 2 (S. cerevisiae) 6613 P61956 affinity chromatography/WB (HEK293 cells)
in vitro sumoylation assay
González-Santamaría J 2012
TCEB3C transcription elongation factor B polypeptide 3C (elongin A3) 162699 Q8NG57 affinity chromatography/MS (SUDHL-1 cells)
in silico target prediction
Crockett DK 2005
TP53 tumor protein p53 7157 P04637 ChIP (SA2OS cells)
ChIP (U2OS cells)
EMSA (purified proteins)
IP/WB (MEF cells)
IP/WB (U2OS cells)
Freeman DJ 2003
TTBK2 tau tubulin kinase 2 146057 Q6IQ55 affinity chromatography/MS (SUDHL-1 cells)
in silico target prediction
Crockett DK 2005
UBC ubiquitin C? 7316 P63279 WB (BEAS-2B cells)
Wu W 2003
UBE2I ubiquitin-conjugating enzyme E2I (UBC9 homolog, yeast) 7329 P63279 IP/WB (MCF-7 cells)
Waite KA 2003
UBE2L3 ?ubiquitin-conjugating enzyme E2L 3 7332 P68036 IP/WB (MCF-7 cells)
Waite KA 2003
UTP14A UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast) 10813 Q9BVJ6 Y2H
Stelzl U 2005
WNT4 wingless-type MMTV integration site family, member 4 54361 P56705 affinity chromatography/MS (SUDHL-1 cells)
in silico target prediction
Crockett DK 2005
WWP2 WW domain containing E3 ubiquitin protein ligase 2 11060 B4DHF6 affinity chromatography/MS (SUDHL-1 cells)
in silico target prediction
Crockett DK 2005
XIAP X-linked inhibitor of apoptosis 331 P98170 in vitro ubiquitination assay
IP/WB (HEK293T cells)
IP/WB (MEF cells)
WB (MCF-7 cells)
WB (MEF cells)
Van Themsche C 2009
YAF2 YY1 associated factor 2 10138 Q8IY57 Y2H
Sakai Y 2011
YY1 YY1 transcription factor 7528 P25490 ChIP / EMSA
Reddy SD 2012
ZNF787 zinc finger protein 787 126208 Q6DD87 affinity chromatography/MS (SUDHL-1 cells)
in silico target prediction
Crockett DK 2005
Aebp1 AE binding protein 1 11568 Q640N1 IP/WB (3T3-L1 cells)
IP/WB (HC11 cells)
Ro HS 2007
Arx aristaless related homeobox 11878 O35085 ChIP/RT-PCR (N2a cells)
Quillé ML 2011
Cenpc1 centromere protein C1 12617 P49452 IP/WB (MEF cells)
Shen WH 2007
Stat3 signal transducer and activator of transcription 3 20848 P42227 ChIP (mouse brain)
Zha X 2011
Grin2b glutamate receptor, ionotropic, N-methyl D-aspartate 2B 24410 Q00960 in vitro binding assay
IP/WB (rat brain)
Ning K 2004
Htr2c 5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled 25187 P08909 IP/WB (PC12 cells)
IP/WB (rat brain)
Ji SP 2006
Cbl N/A 100754737 N/A IP/WB (CHO cells)
Rodriguez S 2013
PTPRZ1 N/A 100511294 N/A in vitro phosphatase assay
IP/WB (pig vascular smooth muscle cells)
Shen X 2012

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