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Relevance to Autism

Rare mutations in the APBA2 gene have been identified with autism (Babatz et al., 2009) as well as with schizophrenia (Kirov et al., 2008).

Molecular Function

A neuronal adapter protein essential for synaptic transmission.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Copy number and sequence variants implicate APBA2 as an autism candidate gene.
ASD
Support
Integrating de novo and inherited variants in 42
ASD
Support
Genome-wide characteristics of de novo mutations in autism
ASD
Highly Cited
Mint2/X11-like colocalizes with the Alzheimer's disease amyloid precursor protein and is associated with neuritic plaques in Alzheimer's disease.
Recent Recommendation
Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia.
SCZ
Recent Recommendation
A rare autism-associated MINT2/APBA2 mutation disrupts neurexin trafficking and synaptic function.
ASD
Recent Recommendation
Increased amyloidogenic processing of transgenic human APP in X11-like deficient mouse brain.
Recent Recommendation
X11-like protein deficiency is associated with impaired conflict resolution in mice.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN012R001 
 copy_number_gain 
  
  
 De novo 
  
  
 GEN012R002 
 missense_variant 
 c.11G>A 
 p.Arg4Gln 
 Familial 
 Maternal 
 Multiplex 
 GEN012R003 
 inframe_indel 
  
 p.Gly96_Thr98del_insAla 
 Familial 
 Paternal 
 Multiplex 
 GEN012R004 
 missense_variant 
 c.410C>T 
 p.Ala137Val 
 Familial 
 Maternal 
 Multiplex 
 GEN012R005 
 missense_variant 
 c.448C>G 
 p.His150Asp 
 Familial 
 Paternal 
 Multiplex 
 GEN012R006 
 missense_variant 
 c.448C>G 
 p.His150Asp 
 Familial 
 Maternal 
 Multiplex 
 GEN012R007 
 missense_variant 
 c.1308G>T 
 p.Gln436His 
 Familial 
 Maternal 
 Multiplex 
 GEN012R008 
 missense_variant 
 c.1894G>A 
 p.Ala632Thr 
 Familial 
 Maternal 
 Multiplex 
 GEN012R009 
 missense_variant 
 c.1976C>T 
 p.Thr659Met 
 Familial 
 Paternal 
 Multiplex 
 GEN012R010 
 missense_variant 
 c.2165A>C 
 p.Asn722Thr 
 Unknown 
  
 Unknown 
 GEN012R011 
 missense_variant 
 c.247G>A 
 p.Glu83Lys 
 De novo 
  
 Simplex 
 GEN012R012 
 missense_variant 
 c.1015A>G 
 p.Asn339Asp 
 De novo 
  
  

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
15
Duplication
 10
  construct
15
Duplication
 1
 
15
Duplication
 9
 
15
Duplication
 2
 
15
Duplication
 5
 
15
Deletion
 1
 
15
Duplication
 81
  construct
15
Duplication
 9
 
15
Duplication
 19
 
15
Duplication
 3
 
15
Duplication
 5
 
15
Duplication
 1
 
15
Deletion-Duplication
 14
 
15
Deletion-Duplication
 15
 
15
Deletion
 21
 

Model Summary

Apba2 is involved in the development of neuronal circuits that contribute to conflict resolution.

References

Type
Title
Author, Year
Primary
X11-like protein deficiency is associated with impaired conflict resolution in mice.

M_APBA2_1_KO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Targeted deletion of the translation initiation site of the Apba2 gene.
Allele Type: Targeted (Knock Out)
Strain of Origin: C57BL/6
Genetic Background: Not Specified
ES Cell Line: MS12
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_APBA2_2_KO_HM_DTG

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Targeted deletion of the translation initiation site of the Apba2 gene followed by Tet-regulated expression of transgenic X11L in the forebrain after birth.
Allele Type: Targeted (Knock Out)
Strain of Origin: C57BL/6
Genetic Background: Not Specified
ES Cell Line: MS12
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_APBA2_1_KO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Neurotransmitter release: serotonin1
Increased
Description: Increased levels of 5-ht in hypothalamus and somatosensory cortex
Exp Paradigm: Dcprotein assay analysis of biopsies from brain coronal sections of anterior cingulate cortex, striatum, hypothalamus, somatosensory cortex, amygdala, hippocampus, and dorsal and median raphe
 High-performance liquid chromatography (hplc)
 4-5 months
Repetitive digging1
Decreased
Description: Decreased burrowing behavior demonstrated by significantly less displaced pellets
Exp Paradigm: Male mice: burrowing test using tunnel-like container filled with small-solid objects
 Burrowing test
 4-5 months
Repetitive digging1
Decreased
Description: Decreased number of marbles buried and digging behavior
Exp Paradigm: Male mice: marble burying test
 Marble-burying test
 4-5 months
Aggression1
Decreased
Description: Decreased aggression displayed by lower fighting behavior and decreased approcahing and following behavior
Exp Paradigm: Male mice: resident intruder test
 Resident-intruder test
 5-6 months
Hypothermia1
Decreased
Description: Decreased hypothermic response in response to injection of 8-oh-dpat
Exp Paradigm: Male mice: hypothermic response to administration of 8-oh-dpat (0.5mg/kb)
 Dopamine agonist-induced hypothermia
 6-7 months
Size/growth1
Decreased
Description: Decreased aggression displayed by lower fighting behavior and decreased approaching and following behavior
Exp Paradigm: Male mice: competitive feeding - 10d feeding restriction using the limited-amount regiment with mixed genotype housing
 Competitive feeding paradigm
 5-6 months
Circadian rhythm1
 No change
 NA
 3-6 months
Size/growth1
 No change
 Non-competitive feeding paradigm
 5-6 months
Anxiety1
 No change
 Elevated plus maze test
 3-6 months
Anxiety1
 No change
 Light-dark exploration test
 3-6 months
Anxiety1
 No change
 Open field test
 3-6 months
Depression1
 No change
 Tail suspension test
 3-6 months
Cued or contextual fear conditioning1
 No change
 Fear conditioning test
 3-6 months
Spatial reference memory1
 No change
 Morris water maze test
 3-6 months
Spatial working memory1
 No change
 Radial maze test
 3-6 months
General locomotor activity1
 No change
 NA
 3-6 months
Grip strength1
 No change
 Wire hang test
 7-8 months
Synaptic transmission1
 No change
 Field potential recordings
 3-6 months
Sensorimotor gating1
 No change
 Prepulse inhibition
 3-6 months
 Not Reported: Communications, Immune response, Maternal behavior, Molecular profile, Neuroanatomy / ultrastructure / cytoarchitecture, Physiological parameters, Seizure

M_APBA2_2_KO_HM_DTG

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
General locomotor activity1
Decreased
Description: Decreased locomotor activity
Exp Paradigm: Male mice: open field test
 Open field test
 3-6 months
Repetitive digging1
Increased
Description: Increased number of marbles buried and digging behavior
Exp Paradigm: Male mice: marble burying test after adminstering dox in the adult stage
 Marble-burying test
 4-5 months
Repetitive digging1
Increased
Description: Increased number of marbles buried and digging behavior
Exp Paradigm: Male mice: marble burying test
 Marble-burying test
 4-5 months
Repetitive digging1
Increased
Description: Increased burrowing behavior demonstrated by significantly greater displaced pellets
Exp Paradigm: Male mice: burrowing test using tunnel-like container filled with small-solid objects
 Burrowing test
 5-6 months
Aggression1
Increased
Description: Increased interaction with intruder mice
Exp Paradigm: Male mice: resident intruder test
 Resident-intruder test
 4-5 months
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Seizure, Sensory





Download APBA2's Cytoscape file

Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
AAGAB alpha- and gamma-adaptin binding protein 79719 Q6PD74 IP; LC-MS/MS
Huttlin EL , et al. 2015
APBA1 Amyloid beta A4 precursor protein-binding family A member 1 320 Q02410 IP; LC-MS/MS
Huttlin EL , et al. 2015
APEX2 APEX nuclease (apurinic/apyrimidinic endonuclease) 2 27301 B7ZA71 IP; LC-MS/MS
Huttlin EL , et al. 2015
APP amyloid beta (A4) precursor protein 351 P05067 IP/WB
Araki Y , et al. 2003
BTRC beta-transducin repeat containing E3 ubiquitin protein ligase 8945 B2R8L3 IP; LC-MS/MS
Huttlin EL , et al. 2015
CLSTN1 calsyntenin 1 22883 O94985 Y2H; IP/WB; GST
Araki Y , et al. 2003
CLSTN3 calsyntenin 3 9746 Q9BQT9 Y2H; IP/WB; GST
Araki Y , et al. 2003
DDX24 DEAD (Asp-Glu-Ala-Asp) box polypeptide 24 57062 Q9GZR7 IP; LC-MS/MS
Huttlin EL , et al. 2015
DMWD dystrophia myotonica, WD repeat containing 1762 Q09019 IP; LC-MS/MS
Huttlin EL , et al. 2015
FBXW11 F-box and WD repeat domain containing 11 23291 Q9UKB1 IP; LC-MS/MS
Huttlin EL , et al. 2015
FMR1 fragile X mental retardation 1 2332 G8JLE9 PAR-CLIP; RNA immunoprecipitation (RIP)
Ascano M Jr , et al. 2012
HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 8924 A8KAQ8 IP; LC-MS/MS
Huttlin EL , et al. 2015
IQSEC1 IQ motif and Sec7 domain 1 9922 B4DGC5 IP; LC-MS/MS
Huttlin EL , et al. 2015
IQSEC2 IQ motif and Sec7 domain 2 23096 Q5JU85 IP; LC-MS/MS
Huttlin EL , et al. 2015
KLRG2 Killer cell lectin-like receptor subfamily G member 2 346689 A4D1S0 IP; LC-MS/MS
Huttlin EL , et al. 2015
MAPK6 mitogen-activated protein kinase 6 5597 Q16659 Y2H
Vinayagam A , et al. 2011
NECAB3 N-terminal EF-hand calcium-binding protein 3 63941 Q96P71 Y2H; IP/WB
Lee DS , et al. 2000
NECAB3 N-terminal EF-hand calcium-binding protein 3 63941 Q96P71 IP; LC-MS/MS
Huttlin EL , et al. 2015
nrxn1 neurexin 1 18189 Q9CS84 GST; IP/WB
Biederer T and Sdhof TC 2000
PLD1 Phospholipase D1 5337 Q13393-2 IP; LC-MS/MS
Huttlin EL , et al. 2015
PSEN2 presenilin 2 (Alzheimer disease 4) 5664 P49810 IP/WB
Biederer T , et al. 2002
RELA v-rel reticuloendotheliosis viral oncogene homolog A (avian) 5970 Q04206 Y2H; IP/WB
Tomita S , et al. 2000
STXBP1 syntaxin binding protein 1 25558 P61765 Y2H; GST; IP/WB
Ciufo LF , et al. 2004
TJAP1 tight junction associated protein 1 (peripheral) 93643 Q5JTD0 IP; LC-MS/MS
Huttlin EL , et al. 2015
TRIM41 tripartite motif containing 41 90933 Q8WV44 IP; LC-MS/MS
Huttlin EL , et al. 2015
USP20 ubiquitin specific peptidase 20 10868 Q9Y2K6 Y2H; LC-MS/MS
Sowa ME , et al. 2009
USP20 ubiquitin specific peptidase 20 10868 Q9Y2K6 IP; LC-MS/MS
Huttlin EL , et al. 2015
USP33 ubiquitin specific peptidase 33 23032 Q8TEY7 IP; LC-MS/MS
Huttlin EL , et al. 2015
ZNF518A zinc finger protein 518A NM_014803 Q6AHZ1 IP; LC-MS/MS
Huttlin EL , et al. 2015
LRP2 Megalin; low density lipoprotein receptor-related protein 2 14725 A2ARV4 Y2H
Gotthardt M , et al. 2000
Rbfox1 RNA binding protein, fox-1 homolog (C. elegans) 1 268859 Q9JJ43 HITS-CLIP
Weyn-Vanhentenryck SM , et al. 2014
MIB1 mindbomb E3 ubiquitin protein ligase 1 307594 D3ZUV2 Affinity chromatography; LC-MS/MS
Mertz J , et al. 2015

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