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APBA2 amyloid beta precursor protein binding family A member 2 [ Homo sapiens (human) ]

Gene ID: 321, updated on 9-Dec-2018

Summary

Official Symbol
APBA2provided by HGNC
Official Full Name
amyloid beta precursor protein binding family A member 2provided by HGNC
Primary source
HGNC:HGNC:579
See related
Ensembl:ENSG00000034053 MIM:602712
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
X11L; MINT2; LIN-10; HsT16821; X11-BETA; D15S1518E; MGC:14091
Summary
The protein encoded by this gene is a member of the X11 protein family. It is a neuronal adapter protein that interacts with the Alzheimer's disease amyloid precursor protein (APP). It stabilizes APP and inhibits production of proteolytic APP fragments including the A beta peptide that is deposited in the brains of Alzheimer's disease patients. This gene product is believed to be involved in signal transduction processes. It is also regarded as a putative vesicular trafficking protein in the brain that can form a complex with the potential to couple synaptic vesicle exocytosis to neuronal cell adhesion. [provided by RefSeq, Jul 2017]
Expression
Biased expression in brain (RPKM 16.8), spleen (RPKM 2.5) and 4 other tissues See more
Orthologs

Genomic context

See APBA2 in Genome Data Viewer
Location:
15q13.1
Exon count:
22
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 15 NC_000015.10 (28885479..29118315)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (29211570..29410518)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene PDCD6IP pseudogene 2 Neighboring gene golgin A6 family like 7 Neighboring gene ferritin light chain pseudogene 11 Neighboring gene family with sequence similarity 189 member A1 Neighboring gene DDB1 and CUL4 associated factor 6 pseudogene Neighboring gene NSE3 homolog, SMC5-SMC6 complex component

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide meta-analysis of association studies of Cloninger's Temperament Scales.
NHGRI GWA Catalog
Genome-wide association study for biomarker identification of Rapamycin and Everolimus using a lymphoblastoid cell line system.
NHGRI GWA Catalog

Pathways from BioSystems

  • Interactions of neurexins and neuroligins at synapses, organism-specific biosystem (from REACTOME)
    Interactions of neurexins and neuroligins at synapses, organism-specific biosystemNeurexins (NRXNs) and neuroligins (NLGNs) are best characterized synaptic cell-adhesion molecules. They are part of excitatory glutamatergic and inhibitory GABAergic synapses in mammalian brain, medi...
  • Neuronal System, organism-specific biosystem (from REACTOME)
    Neuronal System, organism-specific biosystemThe human brain contains at least 100 billion neurons, each with the ability to influence many other cells. Clearly, highly sophisticated and efficient mechanisms are needed to enable communication a...
  • Protein-protein interactions at synapses, organism-specific biosystem (from REACTOME)
    Protein-protein interactions at synapses, organism-specific biosystemSynapses constitute highly specialized sites of asymmetric cell-cell adhesion and intercellular communication. Its formation involves the recruitment of presynaptic and postsynaptic molecules at newl...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC99508

Gene Ontology Provided by GOA

Function Evidence Code Pubs
amyloid-beta binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
chemical synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
in utero embryonic development IEA
Inferred from Electronic Annotation
more info
 
locomotory behavior IEA
Inferred from Electronic Annotation
more info
 
multicellular organism growth IEA
Inferred from Electronic Annotation
more info
 
nervous system development TAS
Traceable Author Statement
more info
PubMed 
protein transport IEA
Inferred from Electronic Annotation
more info
 
regulation of gene expression IEA
Inferred from Electronic Annotation
more info
 
regulation of synaptic vesicle exocytosis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Schaffer collateral - CA1 synapse IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
dendritic spine IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
synapse IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
synaptic vesicle IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
amyloid-beta A4 precursor protein-binding family A member 2
Names
X11-like protein
adapter protein X11beta
amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)
mint-2
neuron-specific X11L protein
neuronal munc18-1-interacting protein 2
phosphotyrosine-binding/-interacting domain (PTB)-bearing protein

NCBI Reference Sequences (RefSeq)

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_001130414.1NP_001123886.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform b

    See identical proteins and their annotated locations for NP_001123886.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1, resulting in a shorter protein (isoform b), compared to isoform a.
    Source sequence(s)
    AB014719, AB209281, AC024474, AK310413, BC082986, BM665057, BX332225
    Consensus CDS
    CCDS45197.1
    UniProtKB/Swiss-Prot
    Q99767
    UniProtKB/TrEMBL
    Q59G28
    Related
    ENSP00000409312.1, ENST00000411764.5
    Conserved Domains (3) summary
    cd00992
    Location:645718
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd01208
    Location:363523
    PTB_X11; X11-like Phosphotyrosine-binding (PTB) domain
    pfam00595
    Location:556639
    PDZ; PDZ domain (Also known as DHR or GLGF)
  2. NM_001353788.1NP_001340717.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform a

    Status: REVIEWED

    Source sequence(s)
    AC024474, AC127522, AC174469, AF047348
    Consensus CDS
    CCDS10022.1
    Related
    ENSP00000453293.1, ENST00000558402.5
    Conserved Domains (3) summary
    cd00992
    Location:657730
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd01208
    Location:363535
    PTB_X11; X11-like Phosphotyrosine-binding (PTB) domain
    pfam00595
    Location:568651
    PDZ; PDZ domain (Also known as DHR or GLGF)
  3. NM_001353789.1NP_001340718.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform a

    Status: REVIEWED

    Source sequence(s)
    AC024474, AC127522, AC174469, AF047348
    Consensus CDS
    CCDS10022.1
    Conserved Domains (3) summary
    cd00992
    Location:657730
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd01208
    Location:363535
    PTB_X11; X11-like Phosphotyrosine-binding (PTB) domain
    pfam00595
    Location:568651
    PDZ; PDZ domain (Also known as DHR or GLGF)
  4. NM_001353790.1NP_001340719.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform a

    Status: REVIEWED

    Source sequence(s)
    AC024474, AC127522, AC174469, AF047348
    Consensus CDS
    CCDS10022.1
    Conserved Domains (3) summary
    cd00992
    Location:657730
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd01208
    Location:363535
    PTB_X11; X11-like Phosphotyrosine-binding (PTB) domain
    pfam00595
    Location:568651
    PDZ; PDZ domain (Also known as DHR or GLGF)
  5. NM_001353791.1NP_001340720.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform a

    Status: REVIEWED

    Source sequence(s)
    AC024474, AC127522, AF047348
    Consensus CDS
    CCDS10022.1
    Conserved Domains (3) summary
    cd00992
    Location:657730
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd01208
    Location:363535
    PTB_X11; X11-like Phosphotyrosine-binding (PTB) domain
    pfam00595
    Location:568651
    PDZ; PDZ domain (Also known as DHR or GLGF)
  6. NM_001353792.1NP_001340721.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform b

    Status: REVIEWED

    Source sequence(s)
    AC024474, AC127522, AC174469, AF047348
    Consensus CDS
    CCDS45197.1
    Related
    ENSP00000452722.1, ENST00000558330.5
    Conserved Domains (3) summary
    cd00992
    Location:645718
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd01208
    Location:363523
    PTB_X11; X11-like Phosphotyrosine-binding (PTB) domain
    pfam00595
    Location:556639
    PDZ; PDZ domain (Also known as DHR or GLGF)
  7. NM_001353793.1NP_001340722.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform b

    Status: REVIEWED

    Source sequence(s)
    AC024474, AC127522, AF047348
    Consensus CDS
    CCDS45197.1
    Conserved Domains (3) summary
    cd00992
    Location:645718
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd01208
    Location:363523
    PTB_X11; X11-like Phosphotyrosine-binding (PTB) domain
    pfam00595
    Location:556639
    PDZ; PDZ domain (Also known as DHR or GLGF)
  8. NM_001353794.1NP_001340723.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform b

    Status: REVIEWED

    Source sequence(s)
    AC024474, AC127522, AF047348
    Consensus CDS
    CCDS45197.1
    Conserved Domains (3) summary
    cd00992
    Location:645718
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd01208
    Location:363523
    PTB_X11; X11-like Phosphotyrosine-binding (PTB) domain
    pfam00595
    Location:556639
    PDZ; PDZ domain (Also known as DHR or GLGF)
  9. NM_001353795.1NP_001340724.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform c

    Status: REVIEWED

    Source sequence(s)
    AA861797, AC024474, AC127522, AC174469
    Conserved Domains (2) summary
    cd01208
    Location:363535
    PTB_X11; X11-like Phosphotyrosine-binding (PTB) domain
    pfam00595
    Location:568651
    PDZ; PDZ domain (Also known as DHR or GLGF)
  10. NM_001353796.1NP_001340725.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform d

    Status: REVIEWED

    Source sequence(s)
    AC024474, AC127522, AF047348
    Conserved Domains (3) summary
    cd00992
    Location:361434
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd01208
    Location:67239
    PTB_X11; X11-like Phosphotyrosine-binding (PTB) domain
    pfam00595
    Location:272355
    PDZ; PDZ domain (Also known as DHR or GLGF)
  11. NM_001353797.1NP_001340726.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform e

    Status: REVIEWED

    Source sequence(s)
    AC024474, AC127522, AF047348
    Conserved Domains (3) summary
    cd00992
    Location:349422
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd01208
    Location:67227
    PTB_X11; X11-like Phosphotyrosine-binding (PTB) domain
    pfam00595
    Location:260343
    PDZ; PDZ domain (Also known as DHR or GLGF)
  12. NM_005503.3NP_005494.2  amyloid-beta A4 precursor protein-binding family A member 2 isoform a

    See identical proteins and their annotated locations for NP_005494.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AB014719, AB209281, AC024474, AK310413, BC082986, BM665057, BX332225
    Consensus CDS
    CCDS10022.1
    UniProtKB/Swiss-Prot
    Q99767
    UniProtKB/TrEMBL
    Q59G28
    Related
    ENSP00000454171.1, ENST00000558259.5
    Conserved Domains (3) summary
    cd00992
    Location:657730
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd01208
    Location:363535
    PTB_X11; X11-like Phosphotyrosine-binding (PTB) domain
    pfam00595
    Location:568651
    PDZ; PDZ domain (Also known as DHR or GLGF)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p12 Primary Assembly

    Range
    28885479..29118315
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011521489.2XP_011519791.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X1

    See identical proteins and their annotated locations for XP_011519791.1

    UniProtKB/Swiss-Prot
    Q99767
    Conserved Domains (3) summary
    cd00992
    Location:657730
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd01208
    Location:363535
    PTB_X11; X11-like Phosphotyrosine-binding (PTB) domain
    pfam00595
    Location:568651
    PDZ; PDZ domain (Also known as DHR or GLGF)
  2. XM_017022110.1XP_016877599.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X1

    UniProtKB/Swiss-Prot
    Q99767
    Conserved Domains (3) summary
    cd00992
    Location:657730
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd01208
    Location:363535
    PTB_X11; X11-like Phosphotyrosine-binding (PTB) domain
    pfam00595
    Location:568651
    PDZ; PDZ domain (Also known as DHR or GLGF)
  3. XM_011521490.2XP_011519792.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X1

    See identical proteins and their annotated locations for XP_011519792.1

    UniProtKB/Swiss-Prot
    Q99767
    Conserved Domains (3) summary
    cd00992
    Location:657730
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd01208
    Location:363535
    PTB_X11; X11-like Phosphotyrosine-binding (PTB) domain
    pfam00595
    Location:568651
    PDZ; PDZ domain (Also known as DHR or GLGF)
  4. XM_011521488.3XP_011519790.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X1

    See identical proteins and their annotated locations for XP_011519790.1

    UniProtKB/Swiss-Prot
    Q99767
    Conserved Domains (3) summary
    cd00992
    Location:657730
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd01208
    Location:363535
    PTB_X11; X11-like Phosphotyrosine-binding (PTB) domain
    pfam00595
    Location:568651
    PDZ; PDZ domain (Also known as DHR or GLGF)
  5. XM_011521492.2XP_011519794.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X1

    See identical proteins and their annotated locations for XP_011519794.1

    UniProtKB/Swiss-Prot
    Q99767
    Conserved Domains (3) summary
    cd00992
    Location:657730
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd01208
    Location:363535
    PTB_X11; X11-like Phosphotyrosine-binding (PTB) domain
    pfam00595
    Location:568651
    PDZ; PDZ domain (Also known as DHR or GLGF)
  6. XM_011521491.1XP_011519793.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X1

    See identical proteins and their annotated locations for XP_011519793.1

    UniProtKB/Swiss-Prot
    Q99767
    Related
    ENSP00000453144.1, ENST00000561069.5
    Conserved Domains (3) summary
    cd00992
    Location:657730
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd01208
    Location:363535
    PTB_X11; X11-like Phosphotyrosine-binding (PTB) domain
    pfam00595
    Location:568651
    PDZ; PDZ domain (Also known as DHR or GLGF)
  7. XM_017022112.2XP_016877601.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X1

    UniProtKB/Swiss-Prot
    Q99767
    Conserved Domains (3) summary
    cd00992
    Location:657730
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd01208
    Location:363535
    PTB_X11; X11-like Phosphotyrosine-binding (PTB) domain
    pfam00595
    Location:568651
    PDZ; PDZ domain (Also known as DHR or GLGF)
  8. XM_024449909.1XP_024305677.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X2

    Conserved Domains (2) summary
    cd01208
    Location:363525
    PTB_X11; X11-like Phosphotyrosine-binding (PTB) domain
    pfam00595
    Location:651722
    PDZ; PDZ domain (Also known as DHR or GLGF)

Reference GRCh38.p12 PATCHES

Genomic

  1. NW_011332701.1 Reference GRCh38.p12 PATCHES

    Range
    1047956..1280878
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p12 ALT_REF_LOCI_2

Genomic

  1. NT_187660.1 Reference GRCh38.p12 ALT_REF_LOCI_2

    Range
    1196592..1393362
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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