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Aliases for APBA2 Gene

Aliases for APBA2 Gene

  • Amyloid Beta (A4) Precursor Protein-Binding, Family A, Member 2 2 3
  • Amyloid Beta (A4) Precursor Protein-Binding, Family A, Member 2 (X11-Like) 2 3
  • Neuronal Munc18-1-Interacting Protein 2 3 4
  • Neuron-Specific X11L Protein 3 4
  • Adapter Protein X11beta 3 4
  • Mint-2 3 4
  • MINT2 3 4
  • X11L 3 4
  • Phosphotyrosine-Binding/-Interacting Domain (PTB)-Bearing Protein 3
  • Amyloid Beta A4 Precursor Protein-Binding Family A Member 2 3
  • X11-Like Protein 3
  • D15S1518E 3
  • MGC:14091 3
  • X11-Like 2
  • HsT16821 3
  • X11-BETA 3
  • LIN-10 3

External Ids for APBA2 Gene

Previous HGNC Symbols for APBA2 Gene

  • X11L
  • MINT2

Previous GeneCards Identifiers for APBA2 Gene

  • GC15P024799
  • GC15P021969
  • GC15P026792
  • GC15P026929
  • GC15P027001
  • GC15P029213
  • GC15P006871

Summaries for APBA2 Gene

Entrez Gene Summary for APBA2 Gene

  • 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. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for APBA2 Gene

APBA2 (Amyloid Beta (A4) Precursor Protein-Binding, Family A, Member 2) is a Protein Coding gene. Among its related pathways are Neuroscience. GO annotations related to this gene include beta-amyloid binding. An important paralog of this gene is APBA3.

UniProtKB/Swiss-Prot for APBA2 Gene

  • Putative function in synaptic vesicle exocytosis by binding to STXBP1, an essential component of the synaptic vesicle exocytotic machinery. May modulate processing of the beta-amyloid precursor protein (APP) and hence formation of beta-APP

Gene Wiki entry for APBA2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for APBA2 Gene

Genomics for APBA2 Gene

Regulatory Elements for APBA2 Gene

Genomic Location for APBA2 Gene

Start:
28,884,483 bp from pter
End:
29,118,315 bp from pter
Size:
233,833 bases
Orientation:
Plus strand

Genomic View for APBA2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for APBA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for APBA2 Gene

Proteins for APBA2 Gene

  • Protein details for APBA2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99767-APBA2_HUMAN
    Recommended name:
    Amyloid beta A4 precursor protein-binding family A member 2
    Protein Accession:
    Q99767
    Secondary Accessions:
    • E9PGI4
    • O60571
    • Q5XKC0

    Protein attributes for APBA2 Gene

    Size:
    749 amino acids
    Molecular mass:
    82512 Da
    Quaternary structure:
    • Part of a multimeric complex containing STXBP1 and syntaxin-1. Binds to the cytoplasmic domain of amyloid protein beta, and to the nuclear factor NF-kappa-B/p65 via its PDZ domain. Interacts with the N-terminal domain of APBA2BP.

    Alternative splice isoforms for APBA2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for APBA2 Gene

Proteomics data for APBA2 Gene at MOPED

Post-translational modifications for APBA2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for APBA2 (APBA2)

No data available for DME Specific Peptides for APBA2 Gene

Domains for APBA2 Gene

Protein Domains for APBA2 Gene

Graphical View of Domain Structure for InterPro Entry

Q99767

UniProtKB/Swiss-Prot:

APBA2_HUMAN :
  • Q99767
Domain:
  • Composed of an N-terminal domain that binds STXBP1, a middle phosphotyrosine-binding domain (PID/PTB) that mediates binding with the cytoplasmic domain of the beta-amyloid precursor protein, and two C-terminal PDZ domains thought to attach proteins to the plasma membrane
  • Contains 2 PDZ (DHR) domains.
  • Contains 1 PID domain.
genes like me logo Genes that share domains with APBA2: view

No data available for Gene Families for APBA2 Gene

Function for APBA2 Gene

Molecular function for APBA2 Gene

GENATLAS Biochemistry: amyloid beta (A4) precursor binding a protein,family A,member 2 (X11-like),neuron specific
UniProtKB/Swiss-Prot Function: Putative function in synaptic vesicle exocytosis by binding to STXBP1, an essential component of the synaptic vesicle exocytotic machinery. May modulate processing of the beta-amyloid precursor protein (APP) and hence formation of beta-APP

Gene Ontology (GO) - Molecular Function for APBA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001540 beta-amyloid binding IEA --
GO:0005515 protein binding IPI 10833507
genes like me logo Genes that share ontologies with APBA2: view
genes like me logo Genes that share phenotypes with APBA2: view

Animal Models for APBA2 Gene

MGI Knock Outs for APBA2:

Animal Model Products

CRISPR Products

miRNA for APBA2 Gene

miRTarBase miRNAs that target APBA2

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for APBA2

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for APBA2 Gene

Localization for APBA2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for APBA2 Gene COMPARTMENTS Subcellular localization image for APBA2 gene
Compartment Confidence
cytosol 3
nucleus 2
plasma membrane 2

Gene Ontology (GO) - Cellular Components for APBA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0008021 synaptic vesicle IEA --
genes like me logo Genes that share ontologies with APBA2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for APBA2 Gene

Pathways for APBA2 Gene

SuperPathways for APBA2 Gene

Superpath Contained pathways
1 Neuroscience
genes like me logo Genes that share pathways with APBA2: view

Pathways by source for APBA2 Gene

1 Cell Signaling Technology pathway for APBA2 Gene

Gene Ontology (GO) - Biological Process for APBA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001701 in utero embryonic development IEA --
GO:0007268 synaptic transmission IEA --
GO:0007399 nervous system development TAS 9890987
GO:0007626 locomotory behavior IEA --
GO:0010468 regulation of gene expression IEA --
genes like me logo Genes that share ontologies with APBA2: view

Transcripts for APBA2 Gene

Unigene Clusters for APBA2 Gene

Amyloid beta (A4) precursor protein-binding, family A, member 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for APBA2

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for APBA2

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for APBA2 Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b · 10c · 10d · 10e · 10f · 10g · 10h · 10i · 10j ^ 11 ^ 12 ^
SP1: - - - - - - - - -
SP2: - - - - - - - - - - - - - - - - -
SP3:
SP4:
SP5: - - - - - - -
SP6: - - - - - - -
SP7: - - - - - - - - -
SP8: - - - - - - - - -
SP9: - - - - - - -
SP10: - - - - - - - -
SP11: - - - - - - -
SP12: - - - - - -
SP13: - - -
SP14: - - - -
SP15: - - - - - - - - -
SP16: - - - - -

ExUns: 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19a · 19b ^ 20a · 20b ^ 21 ^ 22
SP1: - -
SP2: - - - - - - - - - -
SP3: -
SP4: -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:

Relevant External Links for APBA2 Gene

GeneLoc Exon Structure for
APBA2
ECgene alternative splicing isoforms for
APBA2

Expression for APBA2 Gene

mRNA expression in normal human tissues for APBA2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for APBA2 Gene

This gene is overexpressed in Brain - Cortex (5.8), Brain - Frontal Cortex (BA9) (5.4), Brain - Cerebellar Hemisphere (5.1), Brain - Cerebellum (4.9), Brain - Anterior cingulate cortex (BA24) (4.6), and Brain - Hippocampus (4.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for APBA2 Gene

SOURCE GeneReport for Unigene cluster for APBA2 Gene Hs.618112

mRNA Expression by UniProt/SwissProt for APBA2 Gene

Q99767-APBA2_HUMAN
Tissue specificity: Brain
genes like me logo Genes that share expressions with APBA2: view

In Situ Assay Products

Orthologs for APBA2 Gene

This gene was present in the common ancestor of animals.

Orthologs for APBA2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia APBA2 35
  • 99.38 (n)
  • 99.2 (a)
APBA2 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia APBA2 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia APBA2 35
  • 89.01 (n)
  • 91.46 (a)
APBA2 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Apba2 35
  • 87.76 (n)
  • 92.52 (a)
Apba2 16
Apba2 36
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia APBA2 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia APBA2 36
  • 78 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Apba2 35
  • 87.18 (n)
  • 92.39 (a)
chicken
(Gallus gallus)
Aves APBA2 35
  • 73.52 (n)
  • 82.38 (a)
APBA2 36
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia APBA2 36
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia apba2 35
  • 70.88 (n)
  • 78.87 (a)
Str.15798 35
zebrafish
(Danio rerio)
Actinopterygii apba2b 35
  • 72.42 (n)
  • 77.14 (a)
apba2b 36
  • 69 (a)
OneToOne
wufd15a04 35
fruit fly
(Drosophila melanogaster)
Insecta X11L 36
  • 24 (a)
ManyToMany
X11Lbeta 36
  • 13 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea lin-10 36
  • 28 (a)
OneToMany
lin-10 37
  • 59 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 64 (a)
OneToMany
Species with no ortholog for APBA2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for APBA2 Gene

ENSEMBL:
Gene Tree for APBA2 (if available)
TreeFam:
Gene Tree for APBA2 (if available)

Paralogs for APBA2 Gene

Paralogs for APBA2 Gene

Selected SIMAP similar genes for APBA2 Gene using alignment to 5 proteins:

Pseudogenes.org Pseudogenes for APBA2 Gene

genes like me logo Genes that share paralogs with APBA2: view

Variants for APBA2 Gene

Sequence variations from dbSNP and Humsavar for APBA2 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type MAF
rs748366 -- 29,111,839(-) GAGGT(A/C)CCGGC intron-variant
rs748501 -- 29,112,662(+) TTTTC(C/T)GGTTT intron-variant
rs750392 -- 28,998,613(-) CTCTC(C/T)ATCAG intron-variant
rs750393 -- 28,998,271(-) AGATC(A/G)AGGGC intron-variant
rs750394 -- 28,998,268(-) TCGAG(A/G)GCCTA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for APBA2 Gene

Variant ID Type Subtype PubMed ID
nsv522597 CNV Loss 19592680
esv2751526 CNV Loss 17911159
nsv527255 CNV Gain 19592680
nsv516384 CNV Loss 19592680
nsv9224 CNV Loss 18304495
nsv903744 CNV Gain 21882294
nsv9226 CNV Loss 18304495
nsv1473 CNV Loss 18451855
dgv2289n71 CNV Loss 21882294
nsv9227 CNV Gain 18304495
esv29060 CNV Gain 19812545
esv29781 CNV Gain 19812545
nsv820943 CNV Deletion 20802225
nsv515798 CNV Gain+Loss 19592680
nsv903747 CNV Gain 21882294
dgv2290n71 CNV Loss 21882294
nsv471232 CNV Loss 18288195
nsv524362 CNV Loss 19592680
dgv2291n71 CNV Loss 21882294
nsv903753 CNV Loss 21882294
nsv827267 CNV Gain 20364138
nsv9228 CNV Loss 18304495

Relevant External Links for APBA2 Gene

HapMap Linkage Disequilibrium report
APBA2
Human Gene Mutation Database (HGMD)
APBA2

PCR Panel Products

  • Copy Number PCR Panels: for APBA2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for APBA2 Gene

Disorders for APBA2 Gene

(1) Novoseek inferred disease relationships for APBA2 Gene

Disease -log(P) Hits PubMed IDs
alzheimers disease 58.2 2

Relevant External Links for APBA2

Genetic Association Database (GAD)
APBA2
Human Genome Epidemiology (HuGE) Navigator
APBA2
genes like me logo Genes that share disorders with APBA2: view

No data available for UniProtKB/Swiss-Prot for APBA2 Gene

Publications for APBA2 Gene

  1. Regulation of X11L-dependent amyloid precursor protein metabolism by XB51, a novel X11L-binding protein. (PMID: 10833507) Lee D.-S. … Suzuki T. (J. Biol. Chem. 2000) 3 4 23
  2. Copy number and sequence variants implicate APBA2 as an autism candidate gene. (PMID: 20029827) Babatz T.D. … Christian S.L. (Autism Res 2009) 3 23 48
  3. Mapping of the human and murine X11-like genes (APBA2 and apba2), the murine Fe65 gene (Apbb1), and the human Fe65-like gene (APBB2): genes encoding phosphotyrosine-binding domain proteins that interact with the Alzheimer's disease amyloid precursor protein. (PMID: 9585438) Blanco G. … McLoughlin D.M. (Mamm. Genome 1998) 3 23
  4. PDZ domain-dependent suppression of NF-kappaB/p65-induced Abeta42 production by a neuron-specific X11-like protein. (PMID: 10777610) Tomita S. … Suzuki T. (J. Biol. Chem. 2000) 3 23
  5. Increased epithelial stem cell traits in advanced endometrial endometrioid carcinoma. (PMID: 20015385) Chang S.J. … Wang H.W. (BMC Genomics 2009) 3 23

Products for APBA2 Gene

Sources for APBA2 Gene

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