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Relevance to Autism

Several studies have identified rare mutations in the SHANK2 gene in autistic and intellectually disabled individuals (Berkel et al., 2010; Pinto et al., 2010; Leblond et al., 2012; Sanders et al., 2012). A functional study analyzed three of the mutations previously found in individuals with ASD (L1008_P1009dup, T1127M and R462X). The mutations were found to have varying effects on protein localization, dendritic spine volume and branching in cultured neurons and even synaptic transmission and cognitive behavior in mice, with the R462X variant causing the most severe phenotypes (Berkel et al., 2012).

Molecular Function

Shank proteins contain multiple domains for protein-protein interactions and function as molecular scaffolds in the postsynaptic density (PSD).

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation.
ASD
MR
Negative association
Lack of association between NLGN3, NLGN4, SHANK2 and SHANK3 gene variants and autism spectrum disorder in a Chinese population.
ASD
Support
Functional impact of global rare copy number variation in autism spectrum disorders.
ASD
Support
Dysfunction of SHANK2 and CHRNA7 in a patient with intellectual disability and language impairment supports genetic epistasis of the two loci.
DD, ID
Support
Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency and/or congenital malformations.
DD, ID
Support
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
ASD
Support
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
ID
Epilepsy, ASD
Support
De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
ASD
Support
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.
Autism
ID
Highly Cited
The interaction of phospholipase C-beta3 with Shank2 regulates mGluR-mediated calcium signal.
Highly Cited
The Shank family of scaffold proteins.
Recent recommendation
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments.
ASD
Recent Recommendation
Inherited and de novo SHANK2 variants associated with autism spectrum disorder impair neuronal morphogenesis and physiology.
ASD
ID
Recent Recommendation
Activity induced changes in the distribution of Shanks at hippocampal synapses.
Recent Recommendation
BetaPix up-regulates Na+/H+ exchanger 3 through a Shank2-mediated protein-protein interaction.
Recent Recommendation
AnkyrinG is required to maintain axo-dendritic polarity in vivo.
Recent Recommendation
Identification and functional characterization of rare SHANK2 variants in schizophrenia.
SCZ
Recent Recommendation
Integrated systems analysis reveals a molecular network underlying autism spectrum disorders.
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN229R001 
 copy_number_loss 
 N/A 
 N/A 
 De novo 
  
  
 GEN229R002 
 stop_gained 
 C1384T 
 Arg462Ter 
 De novo 
  
 Simplex 
 GEN229R003 
 missense_variant 
 C76T 
 Arg26Trp 
 Familial 
 Paternal 
  
 GEN229R004 
 missense_variant 
 C622T 
 Pro208Ser 
 Familial 
 Maternal 
 Multiplex 
 GEN229R005 
 inframe_insertion 
 3024_3029dup 
 Leu1008_Pro1009dup 
 Familial 
 Maternal 
  
 GEN229R006 
 missense_variant 
 C3380T 
 Thr1127Met 
 Familial 
 Maternal 
  
 GEN229R007 
 missense_variant 
 G4048A 
 Ala1350Thr 
 Familial 
 Maternal 
 Multiplex 
 GEN229R008 
 copy_number_loss 
 N/A 
 N/A 
 De novo 
  
  
 GEN229R009 
 copy_number_loss 
 N/A 
 N/A 
 De novo 
  
  
 GEN229R010 
 copy_number_loss 
 N/A 
 N/A 
 De novo 
  
  
 GEN229R011 
 missense_variant 
 G70344284A 
 R443C 
  
  
  
 GEN229R012 
 missense_variant 
 C70222501A 
 R598L 
  
  
  
 GEN229R013 
 missense_variant 
 C70026597A 
 V717F 
 Familial 
 Paternal 
 Simplex 
 GEN229R014 
 missense_variant 
 C70026561T 
 A729T 
 Familial 
 Maternal 
 Multiplex 
 GEN229R015 
 missense_variant 
 C70010562T 
 E1162K 
  
  
  
 GEN229R016 
 missense_variant 
 C70010538T 
 G1170R 
 Familial 
 Maternal 
 Simplex 
 GEN229R017 
 missense_variant 
 C70009920T 
 V1376I 
  
  
  
 GEN229R018 
 missense_variant 
 C70009443T 
 D1535N 
 Familial 
 Maternal 
 Simplex 
 GEN229R019 
 missense_variant 
 A69997007G 
 L1722P 
 Familial 
 Paternal 
 Simplex 
 GEN229R020 
 missense_variant 
 G70344381A 
 T410M 
  
  
  
 GEN229R021 
 missense_variant 
 C70322303T 
 S557N 
  
  
  
 GEN229R022 
 missense_variant 
 C69997021T 
 M1717I 
  
  
  
 GEN229R023 
 missense_variant 
 A467G 
 K156R 
  
  
  
 GEN229R024 
 synonymous_variant 
 C492T 
 G164G 
  
  
  
 GEN229R025 
 intron_variant 
 G526+61A 
 N/A 
  
  
  
 GEN229R026 
 intron_variant 
 C527-18A 
 N/A 
  
  
  
 GEN229R027 
 intron_variant 
 G527-8T 
 N/A 
  
  
  
 GEN229R028 
 missense_variant 
 G569A 
 R190H 
  
  
  
 GEN229R029 
 intron_variant 
 C640+11T 
 N/A 
  
  
  
 GEN229R030 
 intron_variant 
 C800-33T 
 N/A 
  
  
  
 GEN229R031 
 intron_variant 
 G924+19A 
 N/A 
  
  
  
 GEN229R032 
 intron_variant 
 G924+133C 
 N/A 
  
  
  
 GEN229R033 
 intron_variant 
 C1061-81T 
 N/A 
  
  
  
 GEN229R034 
 intron_variant 
 G1141+49A 
 N/A 
  
  
  
 GEN229R035 
 intron_variant 
 C1148-109T 
 N/A 
  
  
  
 GEN229R036 
 missense_variant 
 A1201C 
 K401Q 
  
  
  
 GEN229R037 
 synonymous_variant 
 G1284A 
 P428P 
  
  
  
 GEN229R038 
 intron_variant 
 C302+14A 
 N/A 
  
  
  
 GEN229R039 
 intron_variant 
 G1302+35A 
 N/A 
  
  
  
 GEN229R040 
 intron_variant 
 C1303-54T 
 N/A 
  
  
  
 GEN229R041 
 missense_variant 
 G1316A 
 R439H 
  
  
  
 GEN229R042 
 synonymous_variant 
 G1392T 
 T464T 
  
  
  
 GEN229R043 
 missense_variant 
 A1763G 
 Y588C 
  
  
  
 GEN229R044 
 synonymous_variant 
 G1923A 
 E641E 
  
  
  
 GEN229R045 
 synonymous_variant 
 G2052A 
 P684P 
  
  
  
 GEN229R046 
 synonymous_variant 
 C2823T 
 D941D 
  
  
  
 GEN229R047 
 synonymous_variant 
 C3135T 
 P992P 
  
  
  
 GEN229R048 
 synonymous_variant 
 C3324T 
 A1108A 
  
  
  
 GEN229R049 
 missense_variant 
 C3620T 
 P1207L 
  
  
  
 GEN229R050 
 intron_variant 
 T3843-12C 
 N/A 
  
  
  
 GEN229R051 
 frameshift_variant 
 2542insCA 
 N/A 
 De novo 
  
 Simplex 
 GEN229R052 
 synonymous_variant 
 c.132G>A 
 No change 
 De novo 
  
 Simplex 
 GEN229R053 
 copy_number_loss 
  
  
 Unknown 
  
 Unknown 
 GEN229R054 
 inversion 
  
  
 De novo 
  
 Simplex 
 GEN229R055 
 translocation 
  
  
 De novo 
  
  
 GEN229R056 
 copy_number_loss 
  
  
 De novo 
  
 Simplex 
 GEN229R057 
 translocation 
  
  
 De novo 
  
  
 GEN229R058 
 nonsynonymous_variant 
  
  
 Unknown 
  
 Unknown 
 GEN229R059 
 missense_variant 
 G>A 
 p.T438M 
 Familial 
 Maternal 
  
 GEN229R060 
 missense_variant 
 C>A 
 p.G488V 
 Unknown 
  
  
 GEN229R061 
 missense_variant 
 G>T 
 p.S610Y 
 Unknown 
  
  
 GEN229R062 
 missense_variant 
 T>C 
 p.N690S 
 Unknown 
  
  
 GEN229R063 
 missense_variant 
 G>T 
 p.R958S 
 Unknown 
  
  
 GEN229R064 
 missense_variant 
 G>T 
 p.P1119T 
 Unknown 
  
  
 GEN229R065 
 missense_variant 
 G>A 
 p.P1144L 
 Familial 
 Maternal 
  
 GEN229R066 
 missense_variant 
 C>T 
 p.V1608I 
 Familial 
 Maternal 
  
 GEN229R067 
 missense_variant 
 G>T 
 p.L1646M 
 Familial 
 Maternal 
  
 GEN229R068 
 missense_variant 
 C>A 
 p.A1731S 
 Familial (n=2), unknown (n=2) 
 Maternal (n=2) 
  

Common

No Common Variants Available



Model Summary

Different abnormalities in synaptic glutamate receptor expression can cause alterations in social interactions and communication

External Links

AllenBrainAtlas   MGI Logo  Entrez Gene

References

Type
Title
Author, Year
Primary
Autistic-like behaviours and hyperactivity in mice lacking ProSAP1/Shank2.
Additional
Autistic-like social behaviour in Shank2-mutant mice improved by restoring NMDA receptor function.

SHANK2_1_KO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Homologous recombination mediated deletion of exon 7 of Shank2 gene
Allele Type: Targeted (Knock Out)
Strain of Origin: C57BL/6
Genetic Background: Not Specified
ES Cell Line: RI
Mutant ES Cell Line: Not specified
Model Source: Not specified

SHANK2_2_KO_HT

Model Type: Genetic
Model Genotype: Heterozygous
Mutation: Homologous recombination mediated deletion of exon 7 of Shank2 gene
Allele Type: Targeted (Knock Out)
Strain of Origin: C57BL/6
Genetic Background: Not Specified
ES Cell Line: RI
Mutant ES Cell Line: Not specified
Model Source: Not specified

SHANK2_3_KO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Targeted deletion of exons 6 and 7 and a frame shift of Shank2 gene
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

SHANK2_4_KO_HT

Model Type: Genetic
Model Genotype: Heterozygous
Mutation: Targeted deletion of exons 6 and 7 and a frame shift of Shank2 gene
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

SHANK2_1_KO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Righting response1
Increased
Description: Increased righting response as measured by decreased latency to right up
Exp Paradigm: Male mice: Righting reflex
 Righting reflex test
 P4, P10
Limb Posture1
Abnormal
Description: Abnormal limb posture indicated by hindlimb clasping
Exp Paradigm: Tail hanging assay
 Tail suspension test
 4 months
Righting response1
Decreased
Description: Decreased righting response as measured by increased latency to right up
Exp Paradigm: Female mice: Righting reflex
 Righting reflex test
 P8
General locomotor activity1
Increased
Description: Increased locomotor activity as measured by distance traveled and number of transitions
Exp Paradigm: Open field test, 3 chamber test, Y maze test
 Open field test
 Unreported
Dendritic spine density and architecture1
Decreased
Description: Decreased spine numbers in CA1 region of hippocampus
Exp Paradigm: Golgi-Cox staining of CA1 hippocampal neurons
 Golgi-Cox staining
 Unreported
Synaptic neuroreceptor ratio (NMDAR/AMPAR) dependent transmission1
Increased
Description: Increased NMDA/AMPA ratio
Exp Paradigm: Whole-cell patch clamp recordings from CA1 pyramidal cells of compound EPSCs were evoked at -60 and +40 mV
 Whole-cell patch clamp
 Unreported
Synaptic transmission1
Decreased
Description: Decreased synaptic transmission demonstrated by decreased field excitatory postsynaptic potentials (fEPSPs)
Exp Paradigm: Extracellular field and whole-cell patch clamp recordings from CA1 pyramidal cells in acute hippocampal slices
 Field potential recordings; Whole-cell patch clamp
 P21-P28; 3 months
Synaptic plasticity1
Increased
Description: Increased synaptic plasticity indicated by enhanced long-term potentiation induced by hig h frequency stimulation of Schaffer collaterals
Exp Paradigm: Whole-cell patch clamp recordings of long-term potentiation induced by a single tetanus of 100 pulses at 100 Hz
 Whole-cell patch clamp
 Unreported
Synaptic transmission1
Decreased
Description: Decreased synaptic transmission indicated by reduction in miniature excitatory postsynaptic currents (mEPSC) frequency
Exp Paradigm: Whole-cell patch clamp recordings from CA1 pyramidal cells
 Whole-cell patch clamp
 Unreported
Repetitive digging1
Decreased
Description: Decreased digging behavior
 
 Unreported
Self grooming: perseveration1
Increased
Description: Increased self grooming behavior
Exp Paradigm: Grooming behavior assessments in female mice
 Grooming behavior assessments
 Unreported
Social interaction1
Decreased
Description: Decreased social interaction indicated by increased latency for first contact
Exp Paradigm: Free interactions of a tested male mouse with an oestrus C57BL/6 female mouse
 Reciprocal social interaction test: male-female in estrus interaction
 Unreported
Social interaction1
Decreased
Description: Decreased social novelty demonstrated by reduction in recognition and interest for social novelty
Exp Paradigm: Three chambered test
 Three-chamber social approach test
 Unreported
Social interaction1
Decreased
Description: Decreased social interactions indicated by difficulty maintaining social contacts
Exp Paradigm: Free same-sex social interactions (residentintruder),
 Resident-intruder test
 Unreported
Ultrasonic vocalization1
Decreased
Description: Decreased ultrasonic vocalizations indicated by longer latency to emit first vocalization, fewer vocalization plus short and unstructured calls during female-female interactions
Exp Paradigm: Ultrasonic Vocalization (USV) during female-female free interaction
 Monitoring ultrasonic vocalizations: reciprocal social interaction test
 Unreported
Ultrasonic vocalization1
Decreased
Description: Decreased ultrasonic vocalizations indicated by longer latency to emit first vocalization as well as short and unstructured calls during male-esterous female interactions
Exp Paradigm: Ultrasonic Vocalization (USV) during male-esterous female free interaction
 Monitoring ultrasonic vocalizations: reciprocal social interaction test: male-female
 Unreported
Ultrasonic vocalization1
Increased
Description: Increased ultrasonic vocalization call rate
Exp Paradigm: Female mice: Pup isolation calls
 Monitoring ultrasonic vocalizations: maternal separation
 P4, P10
Size/growth1
Decreased
Description: Decreased body weight
Exp Paradigm: Female mice: General observations
 General observations
 2 weeks
Size/growth1
Decreased
Description: Decreased body weight
Exp Paradigm: General observations
 General observations
 20-22 days; 4 months
Anxiety1
Increased
Description: Increased anxiety demonstrated by decreased latency to enter and increased proportion time spent in dark compartment
Exp Paradigm: Light-dark box test
 Light-dark exploration test
 Unreported
Protein expression level evidence1
Increased
Description: Increased NMDAR subunit levels in cortex, hippocampus and striatum
Exp Paradigm: Nmdar Subnit Levels
 Western blot
 P70
Protein expression level evidence1
Increased
Description: Increased synaptic content of ionotropic glutamate receptor
Exp Paradigm: Ionotropic Glutamate Receptor Content
 
 Unreported
Protein expression level evidence1
Increased
Description: Increased levels of N-methyl-D- aspartate receptor (NMDAR) subunit GluN1 and ProSAP2/Shank3 in whole brain PSDs
Exp Paradigm: Nmdar Subnit Levels
 Western blot
 Unreported
Protein expression level evidence1
Increased
Description: Increased NMDAR subunit levels in hippocampus and striatum
Exp Paradigm: Nmdar Subnit Levels
 Western blot
 P25
Ultrasonic vocalization1
 No Change
 Monitoring ultrasonic vocalizations: maternal separation
 P4, P10
Ultrasonic vocalization1
 No Change
 Monitoring ultrasonic vocalizations: reciprocal social interaction test
 Unreported
Size/growth1
 No Change
 General observations
 2 weeks
Object recognition memory1
 No Change
 Novel object recognition test
 Unreported
Spatial working memory1
 No Change
 Y-maze test
 Unreported
Protein expression level evidence1
 No Change
 Western blot; Quantitative PCR (qRT-PCR)
 Unreported
Motor coordination and balance1
 No Change
 Accelerating rotarod test
 6-8 months
Synaptic morphology1
 No Change
 Electron microscopy
 Unreported
Synaptic plasticity: LTD1
 No Change
 Whole-cell patch clamp
 Unreported
Synaptic transmission1
 No Change
 Whole-cell patch clamp
 Unreported
Synaptic transmission1
 No Change
 
 Unreported
Synaptic transmission1
 No Change
 Whole-cell patch clamp
 Unreported
Olfaction1
 No Change
 Buried food test
 Unreported
Olfaction1
 No Change
 Home cage odor preference test: pups
 7 days
 Not Reported: Circadian sleep/wake cycle ,   Homeostasis ,   Maternal behavior ,   Seizure ,  

SHANK2_2_KO_HT

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Protein expression level evidence1
Increased
Description: Increased NMDAR subunit levels in hippocampus and striatum
Exp Paradigm: Nmdar Subnit Levels
 Western blot
 P25
Object recognition memory1
 No Change
 Novel object recognition test
 Unreported
Spatial working memory1
 No Change
 Y-maze test
 Unreported
Righting response1
 No Change
 Righting reflex test
 P4, P8, P10
Olfaction1
 No Change
 Buried food test
 Unreported
Olfaction1
 No Change
 Home cage odor preference test: pups
 7 days
 Not Reported: Circadian sleep/wake cycle ,   Communications ,   Developmental profile ,   Emotion ,   Homeostasis ,   Maternal behavior ,   Neuroanatomy / Ultrastructure / Cytoarchitecture ,   Neurophysiology ,   Repetitive behavior ,   Seizure ,   Social behavior ,  

SHANK2_3_KO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
General locomotor activity1
Increased
Description: Increased locomotor activity indicative of hyperactivity measured as the distance traveled
Exp Paradigm: Open field test; Elevated plus maze test
 Open field test; Elevated plus maze test
 2-5 months
Synaptic plasticity1
Decreased
Description: Decreased synaptic plasticity indicative of impaired long-term potentiation at SC-CA1 synapses
Exp Paradigm: Extracellular recordings at hippocampal Schaffer-collateral-CA1-pyramidal synapses of LTP induced by theta-burst stimulation
 Field potential recordings
 8-9 weeks
Synaptic neuroreceptor ratio (NMDAR/AMPAR) dependent transmission1
Decreased
Description: Decreased NMDA/AMPA ratio at SC-CA1 synapses
Exp Paradigm: Extracellular recordings of NMDAR and AMPAR transmission
 Field potential recordings
 3-4 weeks
Synaptic plasticity: LTD1
Decreased
Description: Decreased long-term depression (LTD) induced by low-frequency stimulation at SC-CA1 synapses
Exp Paradigm: Extracellular recordings at hippocampal Schaffer-collateral-CA1-pyramidal synapses of LTD induced by DHPG
 Field potential recordings
 5-6 weeks
Vertical jumping or back flipping1
Increased
Description: Increased repetitive jumping behavior mostly mixed with upright scrabbling
Exp Paradigm: Observation of repetitive behavior in home cage
 Observation of repetitive behavior
 2-5 months
Repetitive digging1
Decreased
Description: Decreased digging behavior
Exp Paradigm: Observation of repetitive behavior in home cage
 Home cage behavior
 2-5 months
Self grooming: perseveration1
Increased
Description: Increased self grooming behavior
Exp Paradigm: Grooming behavior assessments during object recognition test
 Novel object recognition test
 2-5 months
Social interaction1
Decreased
Description: Decreased social interaction demonstrated by decreased preference to explore novel mouse over inanimate object
Exp Paradigm: Three-chambered social interaction assay between novel mouse and inanimate object
 Three-chamber social approach test
 4-5 weeks
Nest building behavior1
Decreased
Description: Decreased nest building behavior
Exp Paradigm: Nest building assay
 Nest building assay
 2-5 months
Social interaction1
Decreased
Description: Decreased social interaction with normal target mice
Exp Paradigm: Home-cage social interaction assay
 Reciprocal social interaction test
 2-5 months
Ultrasonic vocalization1
Decreased
Description: Decreased ultrasonic vocalizations as indicated by longer latency and lower frequency of calls
Exp Paradigm: Ultrasonic Vocalization (USV) during interaction of male with novel female
 Monitoring ultrasonic vocalizations: reciprocal social interaction test: male-female
 2-5 months
Anxiety1
Increased
Description: Increased anxiety shown by decreased time spent in open arms, increased time spent in closed arms, and increased number of closed, but not open, arm entries
Exp Paradigm: Elevated plus maze test
 Elevated plus maze test
 2-5 months
Spatial learning1
Decreased
Description: Decreased spatial learning as indicated by reduced amount of time in target quadrant and less frequency of crossing platform area
Exp Paradigm: Morris water maze test
 Morris water maze test
 2-5 months
Pup retrieval1
Decreased
Description: Decreased pup retrieval efficiency of female mice
Exp Paradigm: Pup retrieval assay
 Pup retrieval assay
 2-5 months
Protein expression level evidence1
Decreased
Description: Decreased Shank2 protein expression in synaptic fractions
Exp Paradigm: Shank2 Protein Expression
 Western blot
 2-3 months
Gene expression1
Decreased
Description: Decreased Shank2 mRNA levels in brain
Exp Paradigm: Shank2 Mrna Levels
 Quantitative PCR (qRT-PCR)
 Unreported
Signaling1
Decreased
Description: Decreased NMDAR associated signaling indicated by lower levels of phosphorylated CaMKII-alpha/beta, ERK1/2 , p38, GluA1 (S831 and S845)
Exp Paradigm: Nmdar Associated Signaling
 Western blot
 3-4 weeks
Reproductive system development1
 No Change
 General observations
 Unreported
Anxiety1
 No Change
 Open field test; Light-dark exploration test
 2-5 months
Protein expression level evidence1
 No Change
 Western blot
 3-4 weeks
Signaling1
 No Change
 Western blot
 3-4 weeks
Brain cytoarchitecture1
 No Change
 Electron microscopy
 8-9 weeks
Brain cytoarchitecture1
 No Change
 Immunohistochemistry: fluorescence
 3 months
Brain morphology1
 No Change
 Immunohistochemistry: fluorescence
 Unreported
Neuronal number: Purkinje cells1
 No Change
 
 Unreported
Synaptic neuroreceptor ratio (NMDAR/AMPAR) dependent transmission1
 No Change
 Field potential recordings
 3-4 weeks
Synaptic transmission1
 No Change
 Field potential recordings
 8-9 weeks
Self grooming: perseveration1
 No Change
 Novel object recognition test: measurement of self grooming
 2-5 months
Olfaction1
 No Change
 Three-chamber social approach test: sociability
 2-5 months
Social interaction1
 No Change
 Three-chamber social approach test
 4-5 weeks
 Not Reported: Circadian sleep/wake cycle ,   Homeostasis ,   Seizure ,  

SHANK2_4_KO_HT

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
General locomotor activity1
Increased
Description: Increased locomotor activity indicative of hyperactivity
Exp Paradigm: Open field test; Elevated plus maze test
 Open field test; Elevated plus maze test
 2-5 months
Anxiety1
 No Change
 Elevated plus maze test
 2-5 months
Object recognition memory1
 No Change
 Novel object recognition test
 2-5 months
Repetitive digging1
 No Change
 Home cage behavior
 2-5 months
Self grooming: perseveration1
 No Change
 Novel object recognition test
 2-5 months
Vertical jumping or back flipping1
 No Change
 Observation of repetitive behavior
 2-5 months
Social interaction1
 No Change
 Three-chamber social approach test
 4-5 weeks
 Not Reported: Circadian sleep/wake cycle ,   Communications ,   Developmental profile ,   Homeostasis ,   Maternal behavior ,   Molecular profile ,   Neuroanatomy / Ultrastructure / Cytoarchitecture ,   Neurophysiology ,   Seizure ,   Sensory ,  


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
DNM2 dynamin 2 1785 P50570 Y2H; IP/WB; GST
Okamoto PM 2001
PDE4D phosphodiesterase 4D, cAMP-specific 5144 Q08499 IP/WB; GST
Lee JH 2007
FMR1 fragile X mental retardation 1 14265 P35922 HITS-CLIP
Darnell JC 2011
GRID2 glutamate receptor, ionotropic, delta 2 14804 Q61625 Y2H; IP/WB; GST; Surface plasmon resonance (SPR)
Uemura T 2004
GRIP1 glutamate receptor interacting protein 1 74053 Q925T6 IP/WB
Uemura T 2004
ARHGEF7 Rho guanine nucleotide exchange factor (GEF7) 114559 O55043 Y2H; GST; IP/WB
Park E 2003
CFTR cystic fibrosis transmembrane conductance regulator homolog 12638 P26361 Y2H; IP/WB
Kim JY 2004
CTTN cortactin 60465 Q66HL2 Y2H; GST; IP/WB
Du Y 1998
DBNL Drebrin-like 13169 Q62418 GST; Far Western Blot
Qualmann B 2004
DLG4 discs, large homolog 4 (Drosophila) 29495 P31016 Y2H; IP/WB
Boeckers TM 1999
DLGAP1 discs, large (Drosophila) homolog-associated protein 1 65040 P97836 Y2H; GST; IP/WB
Naisbitt S 1999
DLGAP2 discs, large (Drosophila) homolog-associated protein 2 116681 P97837 Y2H
Boeckers TM 1999
DLGAP3 discs, large (Drosophila) homolog-associated protein 3 286923 P97838 Y2H
Boeckers TM 1999
DLGAP4 discs, large homolog-associated protein 4 (Drosophila) 286930 P97839 Y2H
Boeckers TM 1999
DYNLL1 dynein light chain LC8-type 1 58945 P63170 IP/WB
Naisbitt S 2000
DYNLL2 dynein light chain LC8-type 2 140734 Q78P75 IP/WB
Naisbitt S 2000
HOMER1 homer homolog 1 (Drosophila) 29456 Q9Z214 GST; IP/WB
Hwang JI 2005
ITPR3 inositol 1,4,5-triphosphate receptor, type 3 25679 Q63269 IP/WB
Hwang JI 2005
LPHN1 latrophilin 1 65096 O88917 Y2H; Far Western Blot; IP/WB
Kreienkamp HJ 2000
LRRC7 leucine rich repeat containing 7 117284 P70587 IP/WB; GST
Quitsch A 2005
MYO5A myosin VA 25017 Q9QYF3 IP/WB
Naisbitt S 2000
PLCB3 phospholipase C, beta 3 29322 Q99JE6 Y2H; GST; IP/WB
Hwang JI 2005
SLC4A7 solute carrier family 4, sodium bicarbonate cotransporter, member 7 117955 Q9R1N3 Y2H
Kim JY 2004
SLC9A3 solute carrier family 9 (sodium/hydrogen exchanger), member 3 24784 P26433 Y2H; IP/WB; Surface plasmon resonance (SPR)
Han W 2006
SSTR2 somatostatin receptor 2 54305 P30680 Y2H; Far Western Blot; IP/WB
Zitzer H 1999
LZTS2 leucine zipper, putative tumor suppressor 2 495421 Q5U4W1 IP/WB
Gessert S 2011

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