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Relevance to Autism

This gene has been associated with syndromic autism, where a subpopulation of individuals with a given syndrome develop autism. In particular, genetic association has been found between autism and tuberous sclerosis (and hence the TSC1 and TSC2 genes as well). As well, association with TSC2 and autism has been found in an AGRE cohort (Serajee et al., 2003), and a rare mutation in TSC2 has been identified in an individual with ASD (Oâ??Roak et al., 2012).

Molecular Function

The product of this gene is believed to be a tumor suppressor and is able to stimulate specific GTPases.

External Links

       

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Autism and tuberous sclerosis.
Tuberous Sclerosis
ASD
Positive Association
Association of INPP1, PIK3CG, and TSC2 gene variants with autistic disorder: implications for phosphatidylinositol signalling in autism.
ASD
Negative association
Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder.
ASD
Support
Performance comparison of bench-top next generation sequencers using microdroplet PCR-based enrichment for targeted sequencing in patients with autism spectrum disorder.
ASD
ID, epilepsy
Support
High-throughput sequencing of mGluR signaling pathway genes reveals enrichment of rare variants in autism.
Non-syndromic ASD
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
Highly Cited
Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products.
Highly Cited
Tsc tumour suppressor proteins antagonize amino-acid-TOR signalling.
Recent Recommendation
ARD1 stabilization of TSC2 suppresses tumorigenesis through the mTOR signaling pathway.
Recent Recommendation
Tuberous sclerosis complex proteins control axon formation.
Recent Recommendation
Reversal of learning deficits in a Tsc2+/- mouse model of tuberous sclerosis.
Recent Recommendation
Regulation of neuronal morphology and function by the tumor suppressors Tsc1 and Tsc2.
Recent Recommendation
Neuroepileptic correlates of autistic symptomatology in tuberous sclerosis.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN256R001 
  
 N/A 
 N/A 
  
  
  
 GEN256R002 
 Missense 
 A to G 
 Met to Val 
 Unknown 
  
 Simplex 
 GEN256R003 
 Missense 
 G to A 
 Ala to Thr 
 Unknown 
  
 Simplex 
 GEN256R004 
 Missense 
 A to C 
 Lys to Gln 
 Familial 
 Maternal 
 Simplex 
 GEN256R005 
 Missense 
 C to T 
 Arg to Cys 
 Unknown 
  
 Simplex 
 GEN256R006 
 Missense 
 A to G 
 Ile to Val 
 Unknown 
  
 Simplex 
 GEN256R007 
 Missense 
 G to A 
 Ala to Thr 
 Familial (1 case); unknown (1 case) 
 Maternal (1 case) 
 Simplex 
 GEN256R008 
 Missense 
 C to G 
 Phe to Leu 
 Unknown 
  
 Simplex 
 GEN256R009 
 Missense 
 G to C 
 Glu to Gln 
 Familial 
 Paternal 
 Simplex 
 GEN256R010 
 Missense 
 C to T 
 Pro to Leu 
 Unknown 
  
 Simplex 
 GEN256R011 
 Missense 
 C to T 
 Ala to Val 
 Familial 
 Paternal 
 Simplex 
 GEN256R012 
 Missense 
 G to A 
 Arg to Gln 
 Unknown 
  
 Simplex 
 GEN256R013 
 Missense 
 G to A 
 Gly to Arg 
 Unknown 
  
 Simplex 
 GEN256R014 
 Missense 
 C to A 
 Ser to Arg 
 Familial 
 Maternal 
 Simplex 
 GEN256R015 
 Deletion 
 delGCTGCCAAG 
 N/A 
 De novo 
  
 Simplex 
 GEN256R016 
 Missense 
 C to T 
 Arg1580Trp 
 De novo 
  
 Simplex 
 GEN256R017 
 Missense 
 c.433G>A 
 A145T 
  
  
 Multiplex 
 GEN256R018 
 Synonymous 
 c.618C>T 
 C206C 
  
  
 Multiplex 
 GEN256R019 
 Synonymous 
 c.1143G>A 
 R381R 
  
  
 Multiplex 
 GEN256R020 
 Missense 
 c.1292C>T 
 A431V 
  
  
 Multiplex 
 GEN256R021 
 Substitution 
 c.1839+6G>A 
 Intronic 
  
  
 Multiplex 
 GEN256R022 
 Missense 
 c.1912G>A 
 V638M 
  
  
 Multiplex 
 GEN256R023 
 Missense 
 c.2155T>C 
 Y719H 
  
  
 Multiplex 
 GEN256R024 
 Missense 
 c.2621C>T 
 P874L 
  
  
 Multiplex 
 GEN256R025 
 Synonymous 
 c.3126G>T 
 P1042P 
  
  
 Multiplex 
 GEN256R026 
 Missense 
 c.3252C>G 
 D1084E 
  
  
 Multiplex 
 GEN256R027 
 Missense 
 c.3827C>T 
 S1276F 
  
  
 Multiplex 
 GEN256R028 
 Missense 
 c.3914C>T 
 P1305L 
  
  
 Multiplex 
 GEN256R029 
 Missense 
 c.3974G>A 
 G1325D 
  
  
 Multiplex 
 GEN256R030 
 Missense 
 c.4051G>A 
 E1351K 
  
  
 Multiplex 
 GEN256R031 
 Missense 
 c.4316G>A 
 G1439D 
  
  
 Multiplex 
 GEN256R032 
 Synonymous 
 c.4341C>T 
  
  
  
 Multiplex 
 GEN256R033 
 Missense 
 c.4460C>G 
 S1487C 
  
  
 Multiplex 
 GEN256R034 
 Synonymous 
 c.5028G>A 
 L1676L 
  
  
 Multiplex 
 GEN256R035 
 Substitution 
 c.5069-8C>T 
 Intron 
  
  
 Multiplex 
 GEN256R036 
 Synonymous 
 c.5175G>A 
  
  
  
 Multiplex 
 GEN256R037 
 Substitution 
 c.5429G>A 
 3'UTR 
  
  
 Multiplex 
 GEN256R038 
 Substitution 
 c.5450G>A 
 3'UTR 
  
  
 Multiplex 
 GEN256R039 
 Missense 
  
 I64V 
 Familial 
 Paternal 
 Simplex 
 GEN256R040 
 Missense 
  
 H152D 
 Familial 
 Maternal 
 Simplex 
 GEN256R041 
 Missense 
  
 K533Q 
 Familial 
 Maternal 
 Simplex 
 GEN256R042 
 Missense 
  
 K954R 
 Familial 
 Paternal 
 Simplex 
 GEN256R043 
 Missense 
  
 E984Q 
 Familial 
 Paternal 
 Simplex 
 GEN256R044 
 Missense 
  
 A1429S 
 Familial 
 Both parents 
 Simplex 
 GEN256R045 
 Missense 
 c.2032G>A 
 A678T 
 Unknown 
  
 Unknown 

Common

Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
 GEN256C001 
 Substitution 
 rs2073636 
 C/T 
 N/A 
 AGRE 
 Discovery 



Model Summary

To provide an alternative model for Tuberous Sclerosis (TSC)

External Links

AllenBrainAtlas   MGI Logo  Entrez Gene

References

Type
Title
Author, Year
Primary
Tsc2(+/-) mice develop tumors in multiple sites that express gelsolin and are influenced by genetic background.
Additional
Increased levels of anxiety-related behaviors in a Tsc2 dominant negative transgenic mouse model of tuberous sclerosis.
Additional
Tsc2 gene inactivation causes a more severe epilepsy phenotype than Tsc1 inactivation in a mouse model of tuberous sclerosis complex.
Additional
Loss of Tsc2 in Purkinje cells is associated with autistic-like behavior in a mouse model of tuberous sclerosis complex.
Additional
Modifiable risk factors for schizophrenia and autism--shared risk factors impacting on brain development.
Additional
Rapamycin reverses impaired social interaction in mouse models of tuberous sclerosis complex.

TSC2_1_KO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Gene targeted replacement of exon 2 of Tsc2 gene with a neomycin resistance cassette.
Allele Type: Targeted (Knock Out)
Strain of Origin: Not Specified
Genetic Background: C57BL/6J or BALB/cJ
ES Cell Line: J1
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

TSC2_2_KO_HT

Model Type: Genetic
Model Genotype: Heterozygous
Mutation: Gene targeted replacement of exon 2 of Tsc2 gene with a neomycin resistance cassette.
Allele Type: Targeted (Knock Out)
Strain of Origin: Not Specified
Genetic Background: 129/SvJae-BALB/cJ or 129/SvJae-C57BL/6J
ES Cell Line: J1
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

TSC2_3_KO_HT

Model Type: Genetic
Model Genotype: Heterozygous
Mutation: Gene targeted replacement of exon 2 of Tsc2 gene with a neomycin resistance cassette.
Allele Type: Targeted (Knock Out)
Strain of Origin: Not Specified
Genetic Background: Black Swiss Mice
ES Cell Line: J1
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

TSC2_4_DN_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation:
Allele Type: Not Specified
Strain of Origin: Not Specified
Genetic Background: Not Specified
ES Cell Line: Not Specified
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

TSC2_5_CN_KO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Deletion of Tsc2 gene globally
Allele Type: Targeted (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

TSC2_6_CN_KO_HT

Model Type: Genetic
Model Genotype: Heterozygous
Mutation: Deletion of Tsc2 gene globally
Allele Type: Conditional (Knock Out)
Strain of Origin: Not specified
Genetic Background: 129X1/SvJ and C57BL/6J
ES Cell Line: Not specified
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

TSC2_7_CN_KO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Delection of Tsc2 gene specific to purkinje cells using Pcp2 cre promoter
Allele Type: Conditional (Knock Out)
Strain of Origin: Not specified
Genetic Background: 129X1/SvJ and C57BL/6J
ES Cell Line: Not specified
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

TSC2_8_KO_HT

Model Type: Genetic
Model Genotype: Heterozygous
Mutation: Targeted deletion of a fragment from codon 74 in exon 2 to codon 164 in exon 5 of Tsc2 gene
Allele Type: Targeted (Knock Out)
Strain of Origin: Not specified
Genetic Background: C57BL/6J
ES Cell Line: Not specified
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

TSC2_1_KO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Lethality1
Increased
Description: Increased embryonic lethality
Exp Paradigm: General Observations
 General Observations
 E12.5
Cardiovascular System1
Abnormal
Description: Abnormally inferiorly shifted heart
Exp Paradigm: Histological analysis of embryos
 Histological Analysis
 E9-E11.5
General Characteristics1
Abnormal
Description: Abnormal general characteristics - hypoplastic liver, poor development of othre abdominal organs, absence of diaphragm, dilated v ascular channels of liver and other abdominal organs
Exp Paradigm: Histological analysis of embryos
 Histological Analysis
 E9-E11.5
General Characteristics1
Abnormal
Description: Delayed growth by 1-2 embryonic days; pale skin and edematous gross appearance; pericardial effusions; Exencephaly
Exp Paradigm: General Observations
 General Observations
 E8-E12.5
 Not Reported: Circadian sleep/wake cycle ,   Communications ,   Emotion ,   Homeostasis ,   Immune Response ,   Learning & memory ,   Maternal behavior ,   Molecular profile ,   Motor phenotype ,   Neuroanatomy / Ultrastructure / Cytoarchitecture ,   Neurophysiology ,   Repetitive behavior ,   Seizure ,   Sensory ,   Social behavior ,  

TSC2_2_KO_HT

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Developmental Trajectory1
Abnormal
Description: Abnormal developmental trajectory - Development of several tumor types: Renal cysts, liver hemangiomas, lung tumors, and angiosarcomas
Exp Paradigm: Histological analysis of embryos
 Histological Analysis
 15 months
Developmental Trajectory1
Abnormal
Description: Abnormal developmental trajectory - Renal cysts and adenomas with dense cellular architecture
Exp Paradigm: Histological analysis of kidney
 Histological Analysis
 Unreported
Gelsolin protein expression1
Increased
Description: Increased gelsolin expression in liver hemangiomas, lung adenomas, and angiosarcomas
Exp Paradigm: Immunohistochemical analysis using gelsolin antibodies
 Immunohistochemical analysis
 Unreported
Tuberin expression1
Decreased
Description: Decreased tuberin expression in cystadenomas
Exp Paradigm: Immunohistochemical analysis of kidney using Tuberin antibody
 Immunohistochemical analysis
 Unreported
Gelsolin protein expression1
Increased
Description: Increased gelsolin expression in kidneys
Exp Paradigm: Immunohistochemical analysis of kidney using Gelsolin antibody
 Immunohistochemical analysis
 3, 6, and 12 months
Lethality1
 No Change
 General Observations
 Unreported
 Not Reported: Circadian sleep/wake cycle ,   Communications ,   Emotion ,   Homeostasis ,   Immune Response ,   Learning & memory ,   Maternal behavior ,   Motor phenotype ,   Neuroanatomy / Ultrastructure / Cytoarchitecture ,   Neurophysiology ,   Repetitive behavior ,   Seizure ,   Sensory ,   Social behavior ,  

TSC2_3_KO_HT

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Developmental Trajectory1
Abnormal
Description: Abnormal developmental trajectory - Increased frequency of angiosarcomas
Exp Paradigm: Histological Analyses
 Histological Analysis
 Unreported
Developmental Trajectory1
Abnormal
Description: Abnormal developmental trajectory - Renal cysts and adenomas greater than 1-10 mm2 size with dense cellular architecture and large solid adenomatous lesions in kidney
Exp Paradigm: Histological analysis of kidney
 Histological Analysis
 Unreported
 Not Reported: Circadian sleep/wake cycle ,   Communications ,   Emotion ,   Homeostasis ,   Immune Response ,   Learning & memory ,   Maternal behavior ,   Molecular profile ,   Motor phenotype ,   Neuroanatomy / Ultrastructure / Cytoarchitecture ,   Neurophysiology ,   Repetitive behavior ,   Seizure ,   Sensory ,   Social behavior ,  

TSC2_4_DN_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Cued conditioning anamolies1
Abnormal
Description: Abnormal contextual discrimination
Exp Paradigm: Cued and Contextual Stimulus (CCS) Assay
 CCS Assay
 3- 6 months
Ultrasonic Vocalizations1
 No Change
 Maternal separation
 P7
Spatial Reference Memory1
 No Change
 Morris water maze task
 3- 6 months
Swimming1
 No Change
 Morris water maze task
 3- 6 months
 Not Reported: Circadian sleep/wake cycle ,   Developmental profile ,   Homeostasis ,   Immune Response ,   Maternal behavior ,   Molecular profile ,   Neuroanatomy / Ultrastructure / Cytoarchitecture ,   Neurophysiology ,   Repetitive behavior ,   Seizure ,   Social behavior ,  

TSC2_5_CN_KO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Lethality1
Increased
Description: Increased lethality related to acute seizures/status epilepticus or malnutrition/dehydration
Exp Paradigm: General Observations
 General Observations
 7-10 weeks
Size/Growth1
Decreased
Description: Decreased weight gain
Exp Paradigm: General Observations
 General Observations
 
Seizure1
Increased
Description: Increased incidence of observable seizures characterized by head nodding, rearing up on hindlimbs, repetitive forelimb clonus, loss of upright posture
Exp Paradigm: Video-EEG Recordings
 Video-EEG Recordings
 2- 3 weeks
Brain Size1
Increased
Description: Increased brain weight with generalized megencephaly
 
 3 weeks
Brain Morphology1
Abnormal
Description: Abnormal morphology demonstrated by increased astrocyte number in neocortex and hippocampus
Exp Paradigm: Histological Analysis of neocortex and hippocampus
 Histological Analysis
 1 week
Brain Morphology1
Abnormal
Description: Abnormal morphology demonstrated by progressive neuronal disorganization in hippocampus with a dispersion of the pyramidal cell layer
Exp Paradigm: Histological analysis of hippocampus
 Histological Analysis
 
Brain Morphology1
Increased
Description: Increased CA1 pyramidal cell layer width
Exp Paradigm: Histological analysis of hippocampus
 Histological Analysis
 3 weeks
mTOR activation1
Increased
Description: Increased mTOR activation demonstrated by increased phospho-S6 (P-S6) expression
Exp Paradigm: Western Blot analysis using anti-phospho-S6 antibodies
 Western Blot analysis
 
GLT-1 expression2
Decreased
Description: Decreased expression of astrocyte glutamate transporter GLT-1
Exp Paradigm: Western Blot analysis using GLT-1 antibodies
 Western Blot analysis
 
Sociability2
Decreased
Description: Decreased sociaiblity indicated by no preference shown for chamber with stranger mouse or inanimate object
Exp Paradigm: Female mice: Three chambered apparatus for sociability
 Three chambered apparatus
 2 months
Social Novelty2
Decreased
Description: Decreased social novelty indicated by non-significant preference for novel mouse
Exp Paradigm: Male mice: Three chambered apparatus for social novelty
 Three chambered apparatus
 2 months
General Characteristics1
 No Change
 General Observations
 2 weeks
General Characteristics2
 No change
 General Observations
 P30-P31
Lethality3
 No Change
 General Observations
 8-10 weeks
Anxiety2
 No change
 Open Field Test
 P47
mTOR activation4
 No Change
 Western Blot analysis
 
General Locomotor Activity2
 No change
 Open Field Test
 P47
Motor Coordination2
 No change
 Accelerating rotarod test
 2 months
Brain Morphology1
 No Change
 Histological Analysis
 
Brain Size3
 No Change
 
 4 weeks
Cytoarchitecture2
 No change
 Calbinding staining
 3 months
Repetitive Behavior2
 No change
 Marble burying assay
 P44
Seizure3
 No Change
 Video-EEG Recordings
 3- 3 weeks
Olfaction2
 No change
 Buried food test
 P49-54
Vision2
 No change
 Morris water maze task
 2 months
Sociability2
 No change
 Three chambered apparatus
 2 months
Social Novelty2
 No change
 Three chambered apparatus
 2 months
 Not Reported: Circadian sleep/wake cycle ,   Communications ,   Emotion ,   Homeostasis ,   Immune Response ,   Learning & memory ,   Maternal behavior ,   Molecular profile ,   Motor phenotype ,   Neurophysiology ,   Repetitive behavior ,   Seizure ,   Sensory ,   Social behavior ,  

TSC2_6_CN_KO_HT

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
General Characteristics1
 No change
 General Observations
 P30-P31
Anxiety1
 No change
 Open Field Test
 P47
General Locomotor Activity1
 No change
 Open Field Test
 P47
Motor Coordination1
 No change
 Accelerating rotarod test
 2 months
Repetitive Behavior1
 No change
 Marble burying assay
 P44
Olfaction1
 No change
 Buried food test
 P49-54
Vision1
 No change
 Morris water maze task
 2 months
Sociability1
 No change
 Three chambered apparatus
 2 months
Social Novelty1
 No change
 Three chambered apparatus
 2 months
 Not Reported: Circadian sleep/wake cycle ,   Communications ,   Homeostasis ,   Immune Response ,   Learning & memory ,   Maternal behavior ,   Molecular profile ,   Neuroanatomy / Ultrastructure / Cytoarchitecture ,   Neurophysiology ,   Seizure ,  

TSC2_7_CN_KO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Cytoarchitecture1
Decreased
Description: Decreased purkinje cell density across folia 2,9, and 10
Exp Paradigm: Calbindin staining across folia 2,9, and 10
 Calbinding staining
 3 months
Social Novelty1
Decreased
Description: Decreased social novelty indicated by no difference in time spent with novel mouse and familiar mouse
Exp Paradigm: Female mice: Three chambered apparatus for social novelty
 Three chambered apparatus
 2 months
Social Novelty1
Decreased
Description: Decreased social novelty indicated by no difference in time spent with novel mouse and familiar mouse
Exp Paradigm: Male mice: Three chambered apparatus for social novelty
 Three chambered apparatus
 2 months
Sociability1
Decreased
Description: Decreased sociability indicated by no preference shown for stranger mice
Exp Paradigm: Female mice: Three chambered apparatus for sociability
 Three chambered apparatus
 2 months
Sociability1
Decreased
Description: Decreased sociability indicated by no preference shown for stranger mice
Exp Paradigm: Male mice: Three chambered apparatus for sociability
 Three chambered apparatus
 2 months
Repetitive Behavior1
Increased
Description: Increased repetitive behavior demonstrated by significantly more marbles buried
Exp Paradigm: Female mice: Marble burying assay
 Marble burying assay
 P44
Repetitive Behavior1
Increased
Description: Increased repetitive behavior demonstrated by significantly more marbles buried
Exp Paradigm: Male mice: Marble burying assay
 Marble burying assay
 P44
Gait1
Abnormal
Description: Abnormal wider gait
Exp Paradigm: Inkblot testing
 Inkblot Testing
 P61
Motor Coordination1
Decreased
Description: Decreased motor coordination demonstrated by shorter latency to fall
Exp Paradigm: Accelerating rotarod test
 Accelerating rotarod test
 5 months
General Characteristics1
 No change
 General Observations
 P30-P31
Anxiety1
 No change
 Open Field Test
 P47
Spatial Learning1
 No change
 Morris water maze task
 P72-77
Spatial Reference Memory1
 No change
 Morris water maze task
 P85-89
General Locomotor Activity1
 No change
 Open Field Test
 P47
Motor Coordination1
 No change
 Accelerating rotarod test
 2 months
Olfaction1
 No change
 Buried food test
 P49-54
Vision1
 No change
 Morris water maze task
 2 months
Sociability1
 No change
 Three chambered apparatus
 2 months
Social Novelty1
 No change
 Three chambered apparatus
 2 months
 Not Reported: Circadian sleep/wake cycle ,   Communications ,   Homeostasis ,   Immune Response ,   Maternal behavior ,   Molecular profile ,   Neurophysiology ,   Seizure ,  

TSC2_8_KO_HT

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
mRNA expression intensity1
Increased
Description: Increased mRNA expression of Tsc1, Gsk3b, Mapk1, Ulk1, Igbp1, Rps6, Deptor, and Eef2k
Exp Paradigm: Whole genome expression analysis
 Whole genome expression analysis
 
mTOR activation1
Increased
Description: Increased mTOR activation demonstrated by increased phospho-S6K levels
Exp Paradigm: Western Blot analysis using anti-phospho-S6 antibodies
 Western Blot analysis
 
Akt phosphorylation1
Decreased
Description: Decreased Akt phosphorylation with no change in total Akt levels
Exp Paradigm: Western blot analysis
 Western Blot analysis
 
Tuberin expression1
Decreased
Description: Decreased tuberin expression
Exp Paradigm: Western blot analysis
 Western Blot analysis
 
Gene expression1
Increased
Description: Increased expression of Tsc1, Gsk3b, Mapk1, Deptor, and Ulk1 mRNA
Exp Paradigm: Quantitative real-time PCR
 Real-time PCR
 
mRNA expression intensity1
Decreased
Description: Decreased mRNA expression of Tsc2
Exp Paradigm: Whole genome expression analysis
 Whole genome expression analysis
 
Active Interaction1
Decreased
Description: Decreased active interaction
Exp Paradigm: Social interaction test
 Social interaction test
 3-7 months
Rearing behavior1
Increased
Description: Increased rearing behavior
Exp Paradigm: Social interaction test
 Social interaction test
 3-7 months
Social Interaction1
Decreased
Description: Decreased social interaction demonstrated by shorter time engaged in active exploration i.e. exploring a novel mouse
Exp Paradigm: Social interaction test with novel mouse scored for sniffing, allo-grooming, mounting, and following
 Social interaction test
 3-7 months
Rearing behavior1
Increased
Description: Increased rearing behavior
Exp Paradigm: Social interaction test with novel mouse scored for rearing
 Social interaction test
 3-7 months
Body Weight1
 No change
 General Observation
 3-7 months
General Characteristics1
 No change
 General Observations
 3-7 months
Anxiety1
 No change
 Light/dark box test
 3-7 months
Exploratory Behavior1
 No change
 Novel object test
 3-7 months
Hamartin levels1
 No change
 Western Blot analysis
 
General Locomotor Activity1
 No change
 Open Field Test
 8-10 weeks
Motor Coordination1
 No change
 Rotarod test
 8-10 weeks
Motor Strength1
 No change
 Pole test
 8-10 weeks
Olfaction1
 No change
 Food exploration test
 3-7 months
Pain1
 No change
 Tail flick test
 3-7 months
Social Dominance1
 No change
 Tube test
 3-7 months
 Not Reported: Circadian sleep/wake cycle ,   Communications ,   Homeostasis ,   Immune Response ,   Learning & memory ,   Maternal behavior ,   Neuroanatomy / Ultrastructure / Cytoarchitecture ,   Neurophysiology ,   Repetitive behavior ,   Seizure ,  



Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
ACTN2 actinin, alpha 2 88 P35609 Y2H
Sakai Y 2011
AKT1 v-akt murine thymoma viral oncogene homolog 1 207 P31749 IP/WB (HEK293 cells)
IP/WB (HeLa cells)
metabolic labeling with 32P (HeLa cells)
Dan HC 2002
ANKRD35 ankyrin repeat domain 35 148741 Q8N283 Y2H
Sakai Y 2011
AR androgen receptor 367 P10275 capillary gel electrophoresis assay (LNCaP cells)
ChIP-seq (LNCaP cells)
Rajan P 2011
axin1 axin 1 734298 Q9YGY0 IP/WB (HEK293T cells)
Mak BC 2003
CALM1 calmodulin 1 (phosphorylase kinase, delta) 801 P62158 bimolecular fluorescence complementation assay (purified proteins)
GST
phage display
Noonan DJ 2002
CAV1 caveolin 1, caveolae protein, 22kDa 857 Q03135 IP/WB (HEK293T cells)
Yamamoto Y 2002
CCNA2 cyclin A2 890 P20248 IP/WB (K562 cells)
IP/WB (NT2 cells)
Catania MG 2001
CCNB1 cyclin B1 891 P14635 IP/WB (HEK293 cells)
IP/WB (K562 cells)
IP/WB (NT2 cells)
Catania MG 2001
CCND1 cyclin D1 595 P24385 IP/WB (HEK293T cells)
Zacharek SJ 2005
CCND2 cyclin D2 894 P30279 IP/WB (HEK293T cells)
Zacharek SJ 2005
CCND3 cyclin D3 896 P30281 IP/WB (HEK293T cells)
Zacharek SJ 2005
CDK1 cyclin-dependent kinase 1 983 P06493 IP/WB (HEK293 cells)
IP/WB (K562 cells)
IP/WB (NT2 cells)
Catania MG 2001
CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1) 1027 P46527 IP/WB (EEF4 cells)
IP/WB (HEK293 cells)
IP/WB (HeLa cells)
IP/WB (MEF cells)
Rosner M 2004
CRB3 crumbs homolog 3 (Drosophila) 92359 Q9BUF7 GST
IP/WB (Caco2 cells)
Massey-Harroche D 2007
CUL4A ?cullin 4A 8451 Q13619 IPWB (HEK293T cells)
Hu J 2008
DAPK1 death-associated protein kinase 1 1612 P53355 IP/WB (HeLa cells)
metabolic labeling with 32P (HEK293 cells)
solid phase binding assay
WB (HEK293 cells)
Stevens C 2009
DDB1 damage-specific DNA binding protein 1, 127kDa 1642 Q16531 IPWB (HEK293T cells)
Hu J 2008
DDIT4 DNA-damage-inducible transcript 4 54541 Q9NX09 IP/WB (U2OS cells)
Vega-Rubin-de-Celis S 2010
EEF1A1 eukaryotic translation elongation factor 1 alpha 1 1915 P68104 Y2H
Sakai Y 2011
ESR1 estrogen receptor 1 2099 P03372 GST
IP/WB (LAM cells)
IP/WB (rat brain)
York B 2005
FBXW5 F-box and WD repeat domain containing 5 54661 Q969U6 in vitro ubiquitination assay
IP/WB (HEK293T cells)
WB (U2OS cells)
Y2H
Hu J 2008
GAPDH glyceraldehyde-3-phosphate dehydrogenase 2597 P04406 Y2H
Sakai Y 2011
GRB2 growth factor receptor-bound protein 2 2885 P62993 Y2H
Wang J 2008
GSK3B glycogen synthase kinase 3 beta 2932 P49841 IP/WB (HEK293T cells)
Mak BC 2003
HERC1 hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 8925 Q15751 IP/MS (mouse brain)
IP/WB (HEK293 cells)
Chong-Kopera H 2006
HSPA1A heat shock 70kDa protein 1A 3303 P08107 IP/MS (HEK293 cells)
IP/WB (HEK293 cells)
Nellist M 2005
HTRA1 HtrA serine peptidase 1 5654 Q92743 GST (in vitro proteins)
in vitro proteolysis assay
IP/WB (Phoenix cells)
Y2H
Campioni M 2010
INADL ?InaD-like (Drosophila) 10207 Q8NI35 GST
IP/WB (Caco2 cells)
Y2H
Massey-Harroche D 2007
LNX1 ligand of numb-protein X 1, E3 ubiquitin protein ligase 84708 Q8TBB1 in vitro ubiquitination assay
IP/WB (HEK293T cells)
Y2H
Guo Z 2012
MAPK1 mitogen-activated protein kinase 1 5594 P28482 IP/MS (HEK293T cells)
IP/WB (HEK293 cells)
metabolic labeling with 32P (HEK293T cells)
Ma L 2005
MAPKAP1 mitogen-activated protein kinase associated protein 1 79109 Q9BPZ7 IP/WB (HEK293 cells)
Huang J 2009
MKRN1 makorin ring finger protein 1 23608 Q9UHC7 Y2H
Sakai Y 2011
MLST8 MTOR associated protein, LST8 homolog (S. cerevisiae) 64223 Q9BVC4 IP/WB (HEK293 cells)
Huang J 2009
MRPL21 mitochondrial ribosomal protein L21 219927 Q7Z2W9 Y2H
Sakai Y 2011
MTOR mechanistic target of rapamycin (serine/threonine kinase) 2475 P42345 IP/WB (HEK293 cells)
Huang J 2009
MYCBP2 MYC binding protein 2 23077 O75592 GST
IP/WB (PC12 cells)
IP/WB (rat brain)
Y2H
Murthy V 2004
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit 8260 A6NM98 GST (HEK293T cells)
in vitro acetylation assay
IP/WB (HEK293T cells)
Kuo HP 2010
NEK1 NIMA (never in mitosis gene a)-related kinase 1 4750 Q96PY6 Y2H
Surpili MJ 2003
PHLDB1 pleckstrin homology-like domain, family B, member 1 23187 Q86UU1 Y2H
Sakai Y 2011
PICK1 protein interacting with PRKCA 1 9463 Q9NRD5 GST (HEK293T cells)
Y2H
Sakai Y 2011
PIN1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 5300 Q13526 Y2H
Vinayagam A 2011
PKD1 polycystic kidney disease 1 (autosomal dominant) 5310 P98161 IP/WB (HEK293 cells)
Dere R 2010
PLK1 polo-like kinase 1 5347 P53350 IP/WB (HEK293 cells)
Astrinidis A 2006
RAB5A RAB5A, member RAS oncogene family 5868 P20339 IP/WB (HEK293T cells)
Yamamoto Y 2002
RALA v-ral simian leukemia viral oncogene homolog A (ras related) 5898 P11233 IP/WB (HEK293T cells)
Castro AF 2003
RAP1A RAP1A, member of RAS oncogene family 5906 P62834 IP/WB (HEK293T cells)
Yamamoto Y 2002
RB1CC1 RB1-inducible coiled-coil 1 9821 Q8TDY2 IP/WB (HEK293T cells)
Gan B 2005
RHEB Ras homolog enriched in brain 6009 Q15382 GTP hydrolysis assay
Garami A 2003
RICTOR RPTOR independent companion of MTOR, complex 2 253260 Q6R327 IP/WB (HEK293 cells)
IP/WB (HeLa cells)
IP/WB (MCF7 cells)
Huang J 2009
RPL4 ribosomal protein L4 6124 P36578 Y2H
Sakai Y 2011
RPS6KA1 ribosomal protein S6 kinase, 90kDa, polypeptide 1 6195 Q15418 in vitro kinase assay
IP/WB (HEK293 cells)
metabolic labeling with 32P (HEK293 cells)
Roux PP 2004
RPSA ribosomal protein SA 3921 P08865 Y2H
Sakai Y 2011
SIRT1 sirtuin 1 23411 A8K128 IP/WB (HeLa cells)
Ghosh HS 2010
SLC13A3 solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 64849 Q8WWT9 Y2H
Sakai Y 2011
SRCRB4D scavenger receptor cysteine rich domain containing, group B (4 domains) 136853 Q8WTU2 Y2H
Sakai Y 2011
TACC3 ?transforming, acidic coiled-coil containing protein 3 10460 Q9Y6A5 GST (HEK293 cells)
IP/WB (HEK293 cells)
IP/WB (HeLa cells)
Y2H
Gómez-Baldó L 2010
TBC1D7 TBC1 domain family, member 7 51256 Q9P0N9 GST
IP/WB (HEK293 cells)
Nakashima A 2007
TFAP4 transcription factor AP-4 (activating enhancer binding protein 4) 7023 Q01664 EMSA (HEK293 cells)
IP/WB (HEK293 cells)
Habib SL 2010
TK1 thymidine kinase 1, soluble 7083 P04183 Y2H
Vinayagam A 2011
TSC1 tuberous sclerosis 1 7248 Q92574 IP/WB (human fibroblasts)
Y2H
van Slegtenhorst M 1998
TSC2 tuberous sclerosis 2 7249 P49815 IP/WB (HEK293T cells)
Hoogeveen-Westerveld M 2012
UBC ubiquitin C? 7316 P63279 IP/WB (HEK293T cells)
Zheng L 2008
UBE3A ubiquitin protein ligase E3A 7337 Q05086 GST
IP/WB (C33-A cells)
IP/WB (Caski cells)
IP/WB (HEK293T cells)
IP/WB (HeLa cells)
WB (Caski cells)
WB (HEK293T cells)
Zheng L 2008
US3 N/A 2703401 B9VQJ7 in vitro kinase assay
IP/WB (U2OS cells)
Chuluunbaatar U 2010
USPL1 ubiquitin specific peptidase like 1 10208 Q5W0Q7 Y2H
Sakai Y 2011
YWHAB tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide 7529 P31946 GST
Nellist M 2002
YWHAE ?tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide 7531 P62258 GST
Nellist M 2002
YWHAG tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide 7532 P61981 GST
Nellist M 2002
YWHAH tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide? 7533 Q04917 GST
Nellist M 2002
YWHAQ ?tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide 10971 P27348 GST
Nellist M 2002
YWHAZ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide 7534 P63104 GST
IP/WB (human brain)
Y2H
Nellist M 2002
NGFRAP1 nerve growth factor receptor (TNFRSF16) associated protein 1 27018 Q00994 IP/WB (mouse brain)
Yasui S 2007
Ppp2ca protein phosphatase 2 (formerly 2A), catalytic subunit, alpha isoform 19052 P63330 IP/MS (NIH-3T3 cells)
IP/WB (NIH-3T3 cells)
Lee WJ 2007
Foxo1 ?forkhead box O1 56458 Q9R1E0 GST
IP/WB (HEK293 cells)
IP/WB (mouse hepatocytes)
Y2H
Cao Y 2006
Mapkapk2 MAP kinase-activated protein kinase 2 17164 P49138 in vitro kinase assay
Li Y 2003
PRKAA1 protein kinase, AMP-activated, alpha 1 catalytic subunit 5562 Q13131 2-D phosphopeptide mapping
EMSA (HEK293 cells)
in vitro kinase assay
metabolic labeling with 32P (HEK293 cells)
Inoki K 2003
PTK2 PTK2 protein tyrosine kinase 2 5747 Q05397 GST
IP/WB (HEK293T cells)
WB (HEK293T cells)
WB (SYF cells)
Gan B 2006
RABEP1 ?rabaptin, RAB GTPase binding effector protein 1 9135 Q15276 Y2H
Xiao GH 1997
ROCK1 Rho-associated, coiled-coil containing protein kinase 1 6093 Q13464 in vitro kinase assay
IP/WB (rat embryonic fibroblasts)
Park JH 2011
Sfn ?stratifin 55948 N/A GST
IP/WB (TRKE2 cells)
Liu MY 2002
SMAD2 SMAD family member 2 4087 Q15796 GST
IP/WB (CCL64 cells)
Birchenall-Roberts MC 2004
SMAD3 SMAD family member 3 4088 P84022 GST
IP/WB (CCL64 cells)
Birchenall-Roberts MC 2004
Spry2 sprouty homolog 2 (Drosophila) 306141 Q5HZA2 IP/WB (rat fetal distal lung epithelium)
Scott CL 2010

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