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

Gene ID: 11784, updated on 27-Nov-2024

Summary

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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 presynaptic modulation of chemical synaptic transmission. Acts upstream of or within several processes, including chemical synaptic transmission; in utero embryonic development; and locomotory behavior. Is active 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, Nov 2024]
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

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See Apba2 in Genome Data Viewer
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_000073.7Genomic Context describing neighboring genes Neighboring gene CapStarr-seq enhancer MGSCv37_chr7:71537088-71537271 Neighboring gene STARR-positive B cell enhancer ABC_E4931 Neighboring gene M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein) Neighboring gene methylmalonyl CoA epimerase Neighboring gene STARR-seq mESC enhancer starr_19041 Neighboring gene STARR-seq mESC enhancer starr_19042 Neighboring gene STARR-seq mESC enhancer starr_19043 Neighboring gene endosomal transmembrane epsin interactor 2 Neighboring gene STARR-seq mESC enhancer starr_19044 Neighboring gene STARR-seq mESC enhancer starr_19045 Neighboring gene STARR-seq mESC enhancer starr_19046 Neighboring gene NSE3 homolog, SMC5-SMC6 complex component Neighboring gene predicted gene, 51521

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. X11-like protein deficiency is associated with impaired conflict resolution in mice. Sano Y, et al. J Neurosci, 2009 May 6. PMID 19420255, Free PMC Article
  2. X11 and X11-like proteins regulate the level of extrasynaptic glutamate receptors. Motodate R, et al. J Neurochem, 2019 Feb. PMID 30411795
  3. The neuronal adaptor protein X11beta reduces amyloid beta-protein levels and amyloid plaque formation in the brains of transgenic mice. Lee JH, et al. J Biol Chem, 2004 Nov 19. PMID 15347685
  4. Abeta42-driven cerebral amyloidosis in transgenic mice reveals early and robust pathology. Radde R, et al. EMBO Rep, 2006 Sep. PMID 16906128, Free PMC Article
  5. Gene in the region of the Friedreich ataxia locus encodes a putative transmembrane protein expressed in the nervous system. Duclos F, et al. Proc Natl Acad Sci U S A, 1993 Jan 1. PMID 7678331, Free PMC Article

See all (41) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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.
Submit: New GeneRIF Correction

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

Homology

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 IEA
Inferred from Electronic Annotation
more info
  
enables amyloid-beta binding ISO
Inferred from Sequence Orthology
more info
  
enables identical protein binding IEA
Inferred from Electronic Annotation
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 
involved_in 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 IEA
Inferred from Electronic Annotation
more info
  

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)

  1. 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)

  2. 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)

  3. 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

  4. 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

  5. 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

  6. 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

  7. 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

  8. 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

  9. 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

  10. 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

  11. 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

  12. 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

  13. 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

  14. 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

  15. 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

  16. 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

  17. 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

  18. 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

  19. 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

  1. NC_000073.7 Reference GRCm39 C57BL/6J

    Range
    64151444..64403620
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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)

  2. 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)

  3. 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)

  4. 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)

  5. 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)

  6. 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)
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P98084.2 GenPept UniProtKB/Swiss-Prot:P98084

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