Apba2 amyloid beta precursor protein binding family A member 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Apba2provided by MGI
Official Full Name: amyloid beta precursor protein binding family A member 2provided by MGI
Primary source: MGI:MGI:1261791
See related: Ensembl:ENSMUSG00000030519 AllianceGenome:MGI:1261791
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: X11L; XllL; mXllL; X11-like
Summary: Predicted to enable amyloid-beta binding activity and identical protein binding activity. Involved in regulation of synaptic vesicle exocytosis. Acts upstream of or within several processes, including chemical synaptic transmission; in utero embryonic development; and locomotory behavior. Located in Schaffer collateral - CA1 synapse. Is expressed in several structures, including alimentary system; nervous system; respiratory system; sensory organ; and skeleton. Orthologous to human APBA2 (amyloid beta precursor protein binding family A member 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in CNS E18 (RPKM 37.9), cortex adult (RPKM 35.0) and 7 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 C; 7 34.65 cM

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (64151444..64403620)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (64501560..64753878)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A rare autism-associated MINT2/APBA2 mutation disrupts neurexin trafficking and synaptic function.
Title: A rare autism-associated MINT2/APBA2 mutation disrupts neurexin trafficking and synaptic function.
X11 and X11L regulate the glutamate receptor micro-localization to the extrasynaptic region
Title: X11 and X11-like proteins regulate the level of extrasynaptic glutamate receptors.
Results indicate that both X11 and X11L exert largely in brain neurons, but X11 may also function in peripheral tissues.
Title: Expression and localization of X11 family proteins in neurons.
This study suggested X11L is involved in the development of neuronal circuits that contribute to conflict resolution.
Title: X11-like protein deficiency is associated with impaired conflict resolution in mice.
X11s associate primarily with APP molecules that are outside of DRM, that the dissociation of APP-X11/X11L complexes leads to entry of APP into DRM, and that cleavage of uncomplexed APP by BACE within DRM
Title: X11 proteins regulate the translocation of amyloid beta-protein precursor (APP) into detergent-resistant membrane and suppress the amyloidogenic cleavage of APP by beta-site-cleaving enzyme in brain.
shuttled between the cytoplasm and nucleus, the former more effectively than the latter; leptomycin B (LMB) induced substantial nuclear accumulation of EGFP-X11L
Title: The X11L/X11beta/MINT2 and X11L2/X11gamma/MINT3 scaffold proteins shuttle between the nucleus and cytoplasm.
Mints 1 and 2 perform redundant synaptic functions and have a role in regulation of gamma-aminobutyric acid release
Title: A role for Mints in transmitter release: Mint 1 knockout mice exhibit impaired GABAergic synaptic transmission.
APPPS1 mice are well suited for studying therapeutic strategies and the pathomechanism of amyloidosis by cross-breeding to other genetically engineered mouse models.
Title: Abeta42-driven cerebral amyloidosis in transgenic mice reveals early and robust pathology.
X11beta reduces amyloid beta-protein levels and amyloid plaque formation in the brains of transgenic mice
Title: The neuronal adaptor protein X11beta reduces amyloid beta-protein levels and amyloid plaque formation in the brains of transgenic mice.
X11L suppresses the amyloidogenic but not amyloidolytic processing of APP in regions of the brain such as the hippocampus, which express significant levels of X11L.
Title: Enhanced amyloidogenic metabolism of the amyloid beta-protein precursor in the X11L-deficient mouse brain.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Apba2 (e-PCR), detects polymorphism
- UniSTS:141098

Apba2 (e-PCR), detects polymorphism
- UniSTS:506733

D7Mit298 (e-PCR), detects polymorphism
- UniSTS:131197

L34676 (e-PCR)
- UniSTS:159650

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables amyloid-beta binding	IBA Inferred from Biological aspect of Ancestor more info
enables amyloid-beta binding	ISO Inferred from Sequence Orthology more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in chemical synaptic transmission	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within chemical synaptic transmission	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within in utero embryonic development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within locomotory behavior	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within multicellular organism growth	IGI Inferred from Genetic Interaction more info	PubMed
involved_in presynaptic modulation of chemical synaptic transmission	IDA Inferred from Direct Assay more info	PubMed
involved_in presynaptic modulation of chemical synaptic transmission	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within regulation of gene expression	IGI Inferred from Genetic Interaction more info	PubMed

Component	Evidence Code	Pubs
is_active_in Schaffer collateral - CA1 synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in Schaffer collateral - CA1 synapse	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
is_active_in dendritic spine	IBA Inferred from Biological aspect of Ancestor more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in presynapse	IMP Inferred from Mutant Phenotype more info	PubMed

General protein information

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Preferred Names: amyloid-beta A4 precursor protein-binding family A member 2

Names: Mint 2; adapter protein X11beta; amyloid beta (A4) precursor protein-binding, family A, member 2; mint-2; neuron-specific X11L protein; neuronal Munc18-1-interacting protein 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001291166.2 → NP_001278095.1 amyloid-beta A4 precursor protein-binding family A member 2 isoform a

See identical proteins and their annotated locations for NP_001278095.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longest isoform (a). Variants 1-8 all encode the same isoform (a).

Source sequence(s)

AC127306, AC129199, AC140297

Consensus CDS

CCDS21335.1

UniProtKB/Swiss-Prot

P98084, Q6PAJ2

Conserved Domains (2) summary

cd01208
Location:365 → 536

PTB_X11; X11-like Phosphotyrosine-binding (PTB) domain

pfam00595
Location:662 → 733

PDZ; PDZ domain (Also known as DHR or GLGF)
NM_001291167.2 → NP_001278096.1 amyloid-beta A4 precursor protein-binding family A member 2 isoform a

See identical proteins and their annotated locations for NP_001278096.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1-8 all encode the same isoform (a).

Source sequence(s)

AC127306, AC129199, AC140297

Consensus CDS

CCDS21335.1

UniProtKB/Swiss-Prot

P98084, Q6PAJ2

Conserved Domains (2) summary

cd01208
Location:365 → 536

PTB_X11; X11-like Phosphotyrosine-binding (PTB) domain

pfam00595
Location:662 → 733

PDZ; PDZ domain (Also known as DHR or GLGF)
NM_001411931.1 → NP_001398860.1 amyloid-beta A4 precursor protein-binding family A member 2 isoform a

Status: VALIDATED

Source sequence(s)

AC127306, AC129199, AC140297

UniProtKB/Swiss-Prot

P98084, Q6PAJ2
NM_001411932.1 → NP_001398861.1 amyloid-beta A4 precursor protein-binding family A member 2 isoform a

Status: VALIDATED

Source sequence(s)

AC127306, AC129199, AC140297

UniProtKB/Swiss-Prot

P98084, Q6PAJ2
NM_001411933.1 → NP_001398862.1 amyloid-beta A4 precursor protein-binding family A member 2 isoform a

Status: VALIDATED

Source sequence(s)

AC127306, AC129199, AC140297

UniProtKB/Swiss-Prot

P98084, Q6PAJ2
NM_001411934.1 → NP_001398863.1 amyloid-beta A4 precursor protein-binding family A member 2 isoform a

Status: VALIDATED

Source sequence(s)

AC127306, AC129199, AC140297

UniProtKB/Swiss-Prot

P98084, Q6PAJ2
NM_001411935.1 → NP_001398864.1 amyloid-beta A4 precursor protein-binding family A member 2 isoform a

Status: VALIDATED

Source sequence(s)

AC127306, AC129199, AC140297

UniProtKB/Swiss-Prot

P98084, Q6PAJ2
NM_001411936.1 → NP_001398865.1 amyloid-beta A4 precursor protein-binding family A member 2 isoform b

Status: VALIDATED

Source sequence(s)

AC127306, AC129199, AC140297

UniProtKB/TrEMBL

A0A0U1RPM0

Related

ENSMUSP00000146038.2, ENSMUST00000206246.2
NM_001411937.1 → NP_001398866.1 amyloid-beta A4 precursor protein-binding family A member 2 isoform b

Status: VALIDATED

Source sequence(s)

AC127306, AC129199, AC140297

UniProtKB/TrEMBL

A0A0U1RPM0
NM_001411938.1 → NP_001398867.1 amyloid-beta A4 precursor protein-binding family A member 2 isoform b

Status: VALIDATED

Source sequence(s)

AC127306, AC129199, AC140297

UniProtKB/TrEMBL

A0A0U1RPM0
NM_001411939.1 → NP_001398868.1 amyloid-beta A4 precursor protein-binding family A member 2 isoform b

Status: VALIDATED

Source sequence(s)

AC127306, AC129199, AC140297

UniProtKB/TrEMBL

A0A0U1RPM0
NM_001411940.1 → NP_001398869.1 amyloid-beta A4 precursor protein-binding family A member 2 isoform b

Status: VALIDATED

Source sequence(s)

AC127306, AC129199, AC140297

UniProtKB/TrEMBL

A0A0U1RPM0
NM_001411941.1 → NP_001398870.1 amyloid-beta A4 precursor protein-binding family A member 2 isoform b

Status: VALIDATED

Source sequence(s)

AC127306, AC129199, AC140297

UniProtKB/TrEMBL

A0A0U1RPM0
NM_001411942.1 → NP_001398871.1 amyloid-beta A4 precursor protein-binding family A member 2 isoform c

Status: VALIDATED

Source sequence(s)

AC127306, AC129199, AC140297
NM_001411943.1 → NP_001398872.1 amyloid-beta A4 precursor protein-binding family A member 2 isoform c

Status: VALIDATED

Source sequence(s)

AC127306, AC129199, AC140297
NM_001411944.1 → NP_001398873.1 amyloid-beta A4 precursor protein-binding family A member 2 isoform c

Status: VALIDATED

Source sequence(s)

AC127306, AC129199, AC140297
NM_001411945.1 → NP_001398874.1 amyloid-beta A4 precursor protein-binding family A member 2 isoform d

Status: VALIDATED

Source sequence(s)

AC127306, AC129199, AC140297
NM_001411946.1 → NP_001398875.1 amyloid-beta A4 precursor protein-binding family A member 2 isoform d

Status: VALIDATED

Source sequence(s)

AC127306, AC129199, AC140297
NM_007461.3 → NP_031487.1 amyloid-beta A4 precursor protein-binding family A member 2 isoform a

See identical proteins and their annotated locations for NP_031487.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1-8 all encode the same isoform (a).

Source sequence(s)

AC127306, AC129199, AC140297

Consensus CDS

CCDS21335.1

UniProtKB/Swiss-Prot

P98084, Q6PAJ2

Related

ENSMUSP00000032732.9, ENSMUST00000032732.15

Conserved Domains (2) summary

cd01208
Location:365 → 536

PTB_X11; X11-like Phosphotyrosine-binding (PTB) domain

pfam00595
Location:662 → 733

PDZ; PDZ domain (Also known as DHR or GLGF)

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000073.7 Reference GRCm39 C57BL/6J

Range

64151444..64403620

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036152587.1 → XP_036008480.1 amyloid-beta A4 precursor protein-binding family A member 2 isoform X2

UniProtKB/TrEMBL

A0A0U1RPM0

Conserved Domains (2) summary

cd01208
Location:365 → 524

PTB_X11; X11-like Phosphotyrosine-binding (PTB) domain

pfam00595
Location:650 → 721

PDZ; PDZ domain (Also known as DHR or GLGF)
XM_036152586.1 → XP_036008479.1 amyloid-beta A4 precursor protein-binding family A member 2 isoform X1

UniProtKB/Swiss-Prot

P98084, Q6PAJ2

Conserved Domains (2) summary

cd01208
Location:365 → 536

PTB_X11; X11-like Phosphotyrosine-binding (PTB) domain

pfam00595
Location:662 → 733

PDZ; PDZ domain (Also known as DHR or GLGF)
XM_036152585.1 → XP_036008478.1 amyloid-beta A4 precursor protein-binding family A member 2 isoform X1

UniProtKB/Swiss-Prot

P98084, Q6PAJ2

Conserved Domains (2) summary

cd01208
Location:365 → 536

PTB_X11; X11-like Phosphotyrosine-binding (PTB) domain

pfam00595
Location:662 → 733

PDZ; PDZ domain (Also known as DHR or GLGF)
XM_030242011.2 → XP_030097871.1 amyloid-beta A4 precursor protein-binding family A member 2 isoform X1

UniProtKB/Swiss-Prot

P98084, Q6PAJ2

Conserved Domains (2) summary

cd01208
Location:365 → 536

PTB_X11; X11-like Phosphotyrosine-binding (PTB) domain

pfam00595
Location:662 → 733

PDZ; PDZ domain (Also known as DHR or GLGF)
XM_036152588.1 → XP_036008481.1 amyloid-beta A4 precursor protein-binding family A member 2 isoform X2

UniProtKB/TrEMBL

A0A0U1RPM0

Conserved Domains (2) summary

cd01208
Location:365 → 524

PTB_X11; X11-like Phosphotyrosine-binding (PTB) domain

pfam00595
Location:650 → 721

PDZ; PDZ domain (Also known as DHR or GLGF)
XM_030242009.1 → XP_030097869.1 amyloid-beta A4 precursor protein-binding family A member 2 isoform X1

UniProtKB/Swiss-Prot

P98084, Q6PAJ2

Conserved Domains (2) summary

cd01208
Location:365 → 536

PTB_X11; X11-like Phosphotyrosine-binding (PTB) domain

pfam00595
Location:662 → 733

PDZ; PDZ domain (Also known as DHR or GLGF)