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Relevance to Autism

Genetic association has been found between the BAIAP2 gene and autism (Toma et al., 2011) as well as with ADHD (Ribass et al., 2009). In addition, a rare deletion in the BAIAP2 gene was identified with autism (Celestino-Soper et al., 2011).

Molecular Function

An adaptor protein of post-synaptic density that links membrane bound G-proteins to cytoplasmic effector proteins

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Association study of six candidate genes asymmetrically expressed in the two cerebral hemispheres suggests the involvement of BAIAP2 in autism.
ASD
Support
IRSp53 Deletion in Glutamatergic and GABAergic Neurons and in Male and Female Mice Leads to Distinct Electrophysiological and Behavioral Phenotypes.
Support
Phenotype-to-genotype approach reveals head-circumference-associated genes in an autism spectrum disorder cohort.
ASD
Macrocephaly
Support
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
ASD
Support
Adult re-expression of IRSp53 rescues NMDA receptor function and social behavior in IRSp53-mutant mice
ASD
Support
Integrating de novo and inherited variants in 42
ASD
Highly Cited
Cdc42 induces filopodia by promoting the formation of an IRSp53:Mena complex.
Highly Cited
IRSp53 is an essential intermediate between Rac and WAVE in the regulation of membrane ruffling.
Recent Recommendation
Case-control study of six genes asymmetrically expressed in the two cerebral hemispheres: association of BAIAP2 with attention-deficit/hyperactivit...
ADHD
Recent Recommendation
BAIAP2 is related to emotional modulation of human memory strength.
Recent Recommendation
mDia1 and WAVE2 proteins interact directly with IRSp53 in filopodia and are involved in filopodium formation.
Recent Recommendation
The neuronal proteins CIPP, Cypin and IRSp53 form a tripartite complex mediated by PDZ and SH3 domains.
Recent Recommendation
Scaffold proteins IRSp53 and spinophilin regulate localized Rac activation by T-lymphocyte invasion and metastasis protein 1 (TIAM1).
Recent Recommendation
Regulation of IRSp53-dependent filopodial dynamics by antagonism between 14-3-3 binding and SH3-mediated localization.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN024R001 
 copy_number_loss 
  
  
 De novo 
  
 Simplex 
 GEN024R002 
 frameshift_variant 
 c.1535+521del 
  
 Familial 
 Maternal 
 Simplex 
 GEN024R003 
 intron_variant 
 c.54+1552C>T 
  
 De novo 
  
  
 GEN024R004 
 synonymous_variant 
 c.357G>A 
 p.Ala119%3D 
 De novo 
  
  
 GEN024R005 
 missense_variant 
 c.76C>T 
 p.Arg26Trp 
 De novo 
  
  
 GEN024R006 
 missense_variant 
 c.862G>A 
 p.Gly288Arg 
 De novo 
  
  
 GEN024R007 
 frameshift_variant 
 c.1736_1737insAG 
 p.Arg580AlafsTer50 
 Familial 
 Maternal 
 Multiplex 

Common

Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
 GEN024C001 
 intron_variant 
 rs8079781 
 c.218-8484C>T;c.317-8484C>T;c.200-8484C>T 
  
 Spanish 
 Discovery 
 GEN024C002 
 intron_variant 
 rs4969385 
 c.490-4838C>T;c.589-4838C>T;c.472-4838C>T 
  
 Spanish 
 Discovery 
 GEN024C003 
 intron_variant 
 rs8079626 
 c.55-596A>G;c.154-596A>G 
  
 German 
 Discovery 
 GEN024C004 
 intron_variant, 2KB_upstream_variant 
 rs11657991 
 c.131-1933G>C;c.230-1933G>C;c.-1735G>C 
  
 Spanish 
 Discovery 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
17
Duplication
 1
 
17
Duplication
 1
 
17
Duplication
 1
 
17
Deletion-Duplication
 7
 
17
Duplication
 1
 
17
Duplication
 1
 
17
Duplication
 3
 
17
Deletion-Duplication
 5
 
17
Deletion-Duplication
 29
 

Model Summary

Baiap2 is involved in the regulation of NMDA receptor-mediated excitatory synaptic transmission, LTP, and learning and memory behaviors.

References

Type
Title
Author, Year
Primary
Enhanced NMDA receptor-mediated synaptic transmission, enhanced long-term potentiation, and impaired learning and memory in mice lacking IRSp53.
Additional
Social deficits in IRSp53 mutant mice improved by NMDAR and mGluR5 suppression.
Additional
Adult re-expression of IRSp53 rescues NMDA receptor function and social behavior in IRSp53-mutant mice

M_BAIAP2_1_KO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Gene trap insertion located in intron between exons 3 & 4 at site between nucleotides 217 & 218 in 20545-nt-long intron, resulting in truncation of the Baiap2 protein between amino acids 72 and 73.
Allele Type: Targeted (Knock Out)
Strain of Origin: C57BL/6J
Genetic Background: Not Specified
ES Cell Line: 129 ola
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_BAIAP2_2_KO_HT

Model Type: Genetic
Model Genotype: Heterozygous
Mutation: Gene trap insertion located in intron between exons 3 & 4 at site between nucleotides 217 & 218 in 20545-nt-long intron, resulting in truncation of the Baiap2 protein between amino acids 72 and 73.
Allele Type: Targeted (Knock Out)
Strain of Origin: C57BL/6J
Genetic Background: Not Specified
ES Cell Line: 129 ola
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_BAIAP2_3_CKO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Exons 4 to 6 of the Baiap2 gene, encoding IRSp53, are flanked by LoxP sites (Baiap^2fl/fl) in mice with a C57BL/6J background, generated by Biocytogen. These mice were crossed with Emx1-Cre mice to generate Emx1-Cre; Baiap2^fl/fl mice, where Baiap2 expression is conditionally ablated in Emx1-expressing cells.
Allele Type: Conditional knockout
Strain of Origin: C57BL/6J
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source: Biocytogen; Kevin R Jones

M_BAIAP2_4_CKO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Exons 4 to 6 of the Baiap2 gene, encoding IRSp53, are flanked by LoxP sites (Baiap^2fl/fl) in mice with a C57BL/6J background, generated by Biocytogen. These mice were crossed with Camk2a-Cre mice to generate Emx1-Cre; Baiap2^fl/fl mice, where Baiap2 expression is conditionally ablated in Camk2a-expressing cells.
Allele Type: Conditional knockout
Strain of Origin: C57BL/6J
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source: Biocytogen; Susumu Tonegawa

M_BAIAP2_1_KO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
General locomotor activity: ambulatory activity2
Increased
Description: Increased distance traveled in open field arena
Exp Paradigm: Open field test
 Open field test
 8-16 weeks
Synapse density2
Decreased
Description: Decreased number of perforated post-synaptic densities (mature synapses)
Exp Paradigm: Electron microscopy
 Electron microscopy
 2-3 weeks
Dendritic architecture: spine density2
Decreased
Description: Decreased number of dendritic spines
Exp Paradigm: Electron microscopy
 Electron microscopy
 2-3 weeks
Dendritic architecture: dendritic tree complexity2
Decreased
Description: Apical but not basal dendrites of pyramidal neurons in layer ii/iii of the prelimbic area have reduced dendritic complexity
Exp Paradigm: Sholl analysis
 Sholl analysis
 3-4 weeks
Synaptic neuroreceptor ratio (nmdar/ampar) dependent transmission1
Decreased
Description: Decreased ampa/nmda ratio of eepsc's at sc-ca1 synapse
Exp Paradigm: Whole-cell recordings at schaffer collateral (sc-ca1) synapse
 Whole-cell patch clamp
 Unreported
Synaptic plasticity: hippocampal ltp1
Increased
Description: Increased long term potentiation (ltp) by tbs at sc-ca1 synapses
Exp Paradigm: Ltp induction by theta burst stimulation (tbs)
 Long term potentiation (ltp)
 Unreported
Miniature post synaptic current frequency: excitatory2
Decreased
Description: Decreased frequence of mepscs in layer ii/iii compared to wild-type
Exp Paradigm: Whole-cell patch clamp
 Whole-cell patch clamp
 2-3 weeks
Synaptic plasticity: hippocampal ltd2
Decreased
Description: Decreased ltd of nmdar epscs compared to wild-type; ltd of ampar epscs and mglur-ltd are unaffected
Exp Paradigm: Long term depression (ltd); whole-cell patch clamp
 Whole-cell patch clamp
 3-4 weeks
Miniature post synaptic current amplitude: excitatory1
Increased
Description: Increased amplitude of nmda dependent mepscs in presence of nbqx
Exp Paradigm: Whole-cell recordings at schaffer collateral (sc-ca1) synapse in the presence of nbqx (ampar antagonist) in mg2+-free extracellular sol'n
 Whole-cell patch clamp
 Unreported
Synaptic neuroreceptor ratio (nmdar/ampar) dependent transmission1
Decreased
Description: Decreased ampa/nmda ratio of eepsp's at sc-ca1 synapses
Exp Paradigm: Extracellular recordings of fepsp's at schaffer collateral-ca1 (sc-ca1) pyramidal synapses
 Field potential recordings
 Unreported
Action potential property: firing rate2
Decreased
Description: Decreased firing rate in the mpfc relative to wild-type
Exp Paradigm: In vivo local field potential (lfp) recordings
 In vivo local field potential (lfp) recordings
 8 weeks
Synaptic transmission1
Increased
Description: Increased nmda receptor mediated epsc's during tbs, normalized to ampa epsc
Exp Paradigm: Whole-cell recordings at schaffer collateral (sc-ca1) synapse during theta burst stimulation (tbs) in the presence of nbqx (ampar antagonist) in mg2+-free extracellular sol'n
 Whole-cell patch clamp
 Unreported
Social interaction2
Decreased
Description: Decreased time spent interacting with same-sex conspecific
Exp Paradigm: Reciprocal social interaction test
 Reciprocal social interaction test
 8-16 weeks
Social approach2
Decreased
Description: Decreased social preference toward a stranger mouse
Exp Paradigm: Three-chamber social approach test
 Three-chamber social approach test
 8-16 weeks
Ultrasonic vocalization2
Decreased
Description: Male knockouts emit fewer ultrasonic vocalizations than wild-type when they encounter a stranger wild-type female
Exp Paradigm: Reciprocal social interaction test: male-female
 Reciprocal social interaction test
 8-16 weeks
Spatial reference memory1
Decreased
Description: Decreased spatial learning demonstrated by increased escape latencies and decreased time spent in target quadrant during probe test
Exp Paradigm: Morris water maze test
 Morris water maze test
 8-26 weeks
Object recognition memory1
Decreased
Description: Decreased novel object recognition demonstrated by no preference shown between two objects, one familiar and one novel
Exp Paradigm: Novel object recognition test
 Novel object recognition test
 8-26 weeks
Protein expression level evidence1
Decreased
Description: Decreased expression of baiap2 in brain
Exp Paradigm: Baiap2 protein expression
 Western blot
 Unreported
Size/growth1
 No change
 General observations
 Unreported
Anxiety2
 No change
 Open field test
 8-16 weeks
Protein expression level evidence1
 No change
 Western blot
 Unreported
Protein phosphorylation2
 No change
 Western blot
 2-3 weeks
Brain morphology1
 No change
 Histology
 Unreported
Dendritic architecture: spine density1
 No change
 Electron microscopy
 Unreported
Decay kinetics of miniature post synaptic currents1
 No change
 Whole-cell patch clamp
 Unreported
Epsp-spike relationship1
 No change
 Field potential recordings
 Unreported
Miniature post synaptic current frequency: excitatory1
 No change
 Whole-cell patch clamp
 Unreported
Miniature post synaptic currents: inhibitory2
 No change
 Whole-cell patch clamp
 2-3 weeks
Presynaptic function: paired-pulse facilitation1
 No change
 Field potential recordings
 Unreported
Presynaptic function: paired-pulse facilitation2
 No change
 Whole-cell patch clamp
 2-3 weeks
Synaptic neuroreceptor ratio (nmdar/ampar) dependent transmission2
 No change
 Whole-cell patch clamp
 2-3 weeks
Synaptic plasticity: hippocampal ltd2
 No change
 Whole-cell patch clamp
 3-4 weeks
Synaptic plasticity: hippocampal ltd2
 No change
 Field potential recordings
 3-4 weeks
Synaptic plasticity: hippocampal ltd1
 No change
 Field potential recordings
 Unreported
Synaptic transmission1
 No change
 Field potential recordings
 Unreported
Synaptic transmission1
 No change
 Whole-cell patch clamp
 Unreported
Olfaction2
 No change
 Buried food test
 8-16 weeks
Social memory2
 No change
 Three-chamber social approach test
 8-16 weeks
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Motor phenotype, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

M_BAIAP2_2_KO_HT

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Protein expression level evidence1
Decreased
Description: Decreased expression of baiap2 in brain
Exp Paradigm: Baiap2 protein expression
 Western blot
 Unreported
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

M_BAIAP2_3_CKO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
General locomotor activity: ambulatory activity1
Increased
Description: Baiap2 cKO mice showed greater baseline locomotor activity compared to wildtype mice.
 Open field test
 12 weeks
Synapse density1
Decreased
Description: Baiap2 cKO layer 5 pyramidal neurons displayed a decrease in silent synapses compared to wildtype neurons.
 Whole-cell patch clamp
 12 weeks
Synaptic neuroreceptor ratio (nmdar/ampar) dependent transmission1
Increased
Description: Baiap2 cKO neurons displayed increased ratios of NMDAR- and AMPAR-EPSCs. Baiap2 cKO mice at the ages of 5 to 8 weeks showed no genotype difference in the NMDA/AMPA ratio, but at 12 weeks mutant mice showed an increased NMDA/AMPA ratio.
 Whole-cell patch clamp
 12 weeks
Social interaction1
Decreased
Description: Baiap2 cKO mice had decreased social interaction compared to wildtype, with fewer nose-to-nose interaction and total body contact time.
 Reciprocal social interaction test
 12 weeks
Social approach1
Decreased
Description: Baiap2 cKO mice had decreased social approach compared to wildtype, interacting less with the stranger mouse.
 Three-chamber social approach test
 12 weeks
Anxiety1
Increased
Description: Baiap2 cKO mice spent less time in the center compared to wildtype mice.
 Open field test
 12 weeks
Anxiety1
Increased
Description: Baiap2 cKO mice spent less time in the light chamber and visited the light chamber less frequently compared to wildtype mice.
 Light-dark exploration test
 12 weeks
Targeted expression1
Decreased
Description: Baiap2 cKO mice brains had decreased Baiap2 expression compared to wildtype
 Western blot
 12 weeks
Anxiety1
 No change
 Elevated plus maze test
 12 weeks
Miniature post synaptic current amplitude: excitatory1
 No change
 Whole-cell patch clamp
 12 weeks
Miniature post synaptic current amplitude: inhibitory1
 No change
 Whole-cell patch clamp
 12 weeks
Miniature post synaptic current frequency: excitatory1
 No change
 Whole-cell patch clamp
 12 weeks
Miniature post synaptic current frequency: inhibitory1
 No change
 Whole-cell patch clamp
 12 weeks
Presynaptic function: paired-pulse facilitation1
 No change
 Paired-pulse facilitation
 12 weeks
Social memory1
 No change
 Three-chamber social approach test
 12 weeks
 Not Reported:

M_BAIAP2_4_CKO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
General locomotor activity: ambulatory activity1
Increased
Description: CaMKIIalpha-Cre-dependent Baiap2 deletion led to increased distance traveled in the open field compared to wildtype.
 Open field test
 unreported
Social approach1
Decreased
Description: CaMKIIalpha-Cre-dependent Baiap2 deletion led to impaired social approach in mice compared to wildtype.
 Three-chamber social approach test
 unreported
Anxiety1
Increased
Description: CaMKIIalpha-Cre-dependent Baiap2 deletion led to increased anxiety in mice in the light-dark test compared to wildtype.
 Light-dark exploration test
 unreported
Anxiety1
Increased
Description: CaMKIIalpha-Cre-dependent Baiap2 deletion led to increased anxiety in mice in the open field test compared to wildtype.
 Open field test
 unreported
Anxiety1
 No change
 Elevated plus maze test
 unreported
Social memory1
 No change
 Three-chamber social approach test
 unreported
 Not Reported:





Download BAIAP2's Cytoscape file

Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
ABI1 abl-interactor 1 10006 Q8IZP0 IP; LC-MS/MS
Huttlin EL , et al. 2015
BAIAP2 BAI1-associated protein 2 10458 Q9UQB8 Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
BAIAP2L1 Brain-specific angiogenesis inhibitor 1-associated protein 2-like protein 1 55971 Q9UHR4 IP; LC-MS/MS
Huttlin EL , et al. 2015
C19ORF25 chromosome 19 open reading frame 25 148223 Q9UFG5 Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
CDC42 cell division cycle 42 (GTP binding protein, 25kDa) 998 P60953 Y2H
et al.
EPS8 epidermal growth factor receptor pathway substrate 8 2059 B4E3T6 Y2H
Rual JF , et al. 2005
EPS8 epidermal growth factor receptor pathway substrate 8 2059 B4E3T6 Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
EPS8 epidermal growth factor receptor pathway substrate 8 2059 B4E3T6 IP; LC-MS/MS
Huttlin EL , et al. 2015
KIAA1522 KIAA1522 57648 Q9P206 IP; LC-MS/MS
Huttlin EL , et al. 2015
NCK2 NCK adaptor protein 2 8440 O43639 IP; LC-MS/MS
Huttlin EL , et al. 2015
NCKAP1 NCK-associated protein 1 NM_205842 Q9Y2A7 IP; LC-MS/MS
Huttlin EL , et al. 2015
NCKIPSD NCK interacting protein with SH3 domain 51517 Q9NZQ3 IP; LC-MS/MS
Huttlin EL , et al. 2015
PBX2 pre-B-cell leukemia homeobox 2 5089 P40425 Y2H
Rual JF , et al. 2005
PRR13 proline rich 13 NM_018457 Q9NZ81 Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
RAC1 ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) 5879 P63000 Y2H
Rual JF , et al. 2005
RAP1GDS1 RAP1, GTP-GDP dissociation stimulator 1 5910 P52306 IP; LC-MS/MS
Huttlin EL , et al. 2015
SF3B4 splicing factor 3b, subunit 4, 49kDa 10262 B3KUJ0 Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
SHANK1 SH3 and multiple ankyrin repeat domains 1 50944 Q9Y566 Y2H; Overlay binding assay; IP/WB
Soltau M , et al. 2002
TP53BP2 tumor protein p53 binding protein, 2 7159 Q13625 Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
WASF2 WAS protein family, member 2 10163 Q9Y6W5 IP; LC-MS/MS
Huttlin EL , et al. 2015
DLG4 Postsynaptic density protein 95 13385 Q62108 IP; LC-MS/MS
Frank RA , et al. 2016
SHANK3 SH3 and multiple ankyrin repeat domains 3 59312 Q9JLU4 Y2H; GST; IP/WB
Bockmann J , et al. 2002

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