Summary Statistics:
ASD Reports: 8
Recent Reports: 4
Annotated variants: 12
Associated CNVs: 15
Evidence score: 3
Gene Score: 4
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.
References
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.
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
No Common Variants Available
15
Deletion-Duplication
14
15
Deletion-Duplication
15
Summary Statistics:
# of Reports: 1
# of Models: 2
Model Summary
Apba2 is involved in the development of neuronal circuits that contribute to conflict resolution.
References
Primary
X11-like protein deficiency is associated with impaired conflict resolution in mice.
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
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
Neurotransmitter release: serotonin1
Increased
View More
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
Decreased
View More
Description: Decreased number of marbles buried and digging behavior
Exp Paradigm: Male mice: marble burying test
Marble-burying test
4-5 months
Decreased
View More
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
Decreased
View More
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
Decreased
View More
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
Decreased
View More
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
No change
Non-competitive feeding paradigm
5-6 months
No change
Elevated plus maze test
3-6 months
No change
Light-dark exploration test
3-6 months
No change
Open field test
3-6 months
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
No change
Radial maze test
3-6 months
General locomotor activity1
No change
NA
3-6 months
No change
Wire hang test
7-8 months
No change
Field potential recordings
3-6 months
No change
Prepulse inhibition
3-6 months
Not Reported:
Communications, Immune response, Maternal behavior, Molecular profile, Neuroanatomy / ultrastructure / cytoarchitecture, Physiological parameters, Seizure
General locomotor activity1
Decreased
View More
Description: Decreased locomotor activity
Exp Paradigm: Male mice: open field test
Open field test
3-6 months
Increased
View More
Description: Increased number of marbles buried and digging behavior
Exp Paradigm: Male mice: marble burying test
Marble-burying test
4-5 months
Increased
View More
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
Increased
View More
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
Increased
View More
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
Summary Statistics:
Total Interactions: 32
Total Publications: 13
Show all nodes
Hide non-ASD
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