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Aliases for APBA2 Gene

Aliases for APBA2 Gene

  • Amyloid Beta Precursor Protein Binding Family A Member 2 2 3 5
  • 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 2
  • Amyloid-Beta A4 Precursor Protein-Binding Family A Member 2 3
  • X11-Like Protein 3
  • D15S1518E 3
  • MGC:14091 3
  • HsT16821 3
  • X11-BETA 3
  • X11-Like 2
  • 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. [provided by RefSeq, Jul 2017]

GeneCards Summary for APBA2 Gene

APBA2 (Amyloid Beta Precursor Protein Binding Family A Member 2) is a Protein Coding gene. Diseases associated with APBA2 include Alzheimer Disease and Rectal Neoplasm. Among its related pathways are Protein-protein interactions at synapses and Transmission across Chemical Synapses. Gene Ontology (GO) annotations related to this gene include amyloid-beta binding. An important paralog of this gene is APBA1.

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 amyloid-beta precursor protein (APP) and hence formation of APP-beta.

Gene Wiki entry for APBA2 Gene

Additional gene information for APBA2 Gene

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

Genomics for APBA2 Gene

GeneHancer (GH) Regulatory Elements for APBA2 Gene

Promoters and enhancers for APBA2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15J028885 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE 655.8 +1.7 1741 1.4 MXI1 RB1 ZFP64 SIN3A ZBTB40 ZNF335 CTBP1 GLIS2 MTA3 POLR2A APBA2 ENSG00000259277
GH15J029039 Promoter/Enhancer 1.1 EPDnew ENCODE dbSUPER 650.1 +155.8 155802 1.7 BATF ATF2 RUNX3 APBA2 ENSG00000260844 PIR60804 PIR55356
GH15J028976 Enhancer 1 Ensembl ENCODE dbSUPER 16 +93.0 93020 1.2 JUN SIN3A ELF1 MNT REST RFX5 SP1 FOSL1 JUND POLR2A ENSG00000259277 APBA2 PIR55356
GH15J028984 Enhancer 1.1 FANTOM5 ENCODE dbSUPER 9.3 +100.8 100797 1.4 MXI1 SP2 ZNF398 ZIC2 ATF2 POLR2A ZNF629 CREB1 SPI1 APBA2 HERC2P9 NSMCE3 PIR55356 ENSG00000259277
GH15J028904 Enhancer 0.8 ENCODE 12.3 +20.4 20409 0.4 HDAC1 PKNOX1 ARNT TCF12 GATA2 CREM PHF21A ZBTB2 CEBPB NCOA1 APBA2 ENSG00000259277
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around APBA2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the APBA2 gene promoter:
  • Zic3
  • FOXO4
  • p53
  • AP-4
  • Zic1
  • Tal-1
  • E47
  • Tal-1beta
  • ITF-2

Genomic Locations for APBA2 Gene

Genomic Locations for APBA2 Gene
chr15:28,884,483-29,118,315
(GRCh38/hg38)
Size:
233,833 bases
Orientation:
Plus strand
chr15:29,129,629-29,410,518
(GRCh37/hg19)
Size:
280,890 bases
Orientation:
Plus strand

Genomic View for APBA2 Gene

Genes around APBA2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
APBA2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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-beta protein, 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

Post-translational modifications for APBA2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for APBA2 Gene

Domains & Families for APBA2 Gene

Gene Families for APBA2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for APBA2 Gene

Graphical View of Domain Structure for InterPro Entry

Q99767

UniProtKB/Swiss-Prot:

APBA2_HUMAN :
  • 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 amyloid-beta precursor protein, and two C-terminal PDZ domains thought to attach proteins to the plasma membrane.
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 amyloid-beta precursor protein, and two C-terminal PDZ domains thought to attach proteins to the plasma membrane.
genes like me logo Genes that share domains with APBA2: view

Function for APBA2 Gene

Molecular function for APBA2 Gene

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 amyloid-beta precursor protein (APP) and hence formation of APP-beta.
GENATLAS Biochemistry:
amyloid beta (A4) precursor binding a protein,family A,member 2 (X11-like),neuron specific

Phenotypes From GWAS Catalog for APBA2 Gene

Gene Ontology (GO) - Molecular Function for APBA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001540 amyloid-beta 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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for APBA2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for APBA2 Gene

Localization for APBA2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for APBA2 gene
Compartment Confidence
plasma membrane 4
cytosol 4
nucleus 3
golgi apparatus 2
endosome 1

Gene Ontology (GO) - Cellular Components for APBA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
GO:0005886 plasma membrane IEA --
GO:0008021 synaptic vesicle IEA --
GO:0043197 dendritic spine IBA --
GO:0045202 synapse IBA --
genes like me logo Genes that share ontologies with APBA2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for APBA2 Gene

Pathways & Interactions for APBA2 Gene

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 chemical 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

No data available for SIGNOR curated interactions for APBA2 Gene

Drugs & Compounds for APBA2 Gene

No Compound Related Data Available

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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for APBA2

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x5.8), Brain - Frontal Cortex (BA9) (x5.4), Brain - Cerebellar Hemisphere (x5.1), Brain - Cerebellum (x4.9), Brain - Anterior cingulate cortex (BA24) (x4.6), and Brain - Hippocampus (x4.3).

Protein differential expression in normal tissues from HIPED for APBA2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (34.1), Frontal cortex (16.1), CD8 Tcells (10.0), and Fetal Brain (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for APBA2 Gene



Protein tissue co-expression partners for APBA2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of APBA2 Gene:

APBA2

SOURCE GeneReport for Unigene cluster for APBA2 Gene:

Hs.618112

mRNA Expression by UniProt/SwissProt for APBA2 Gene:

Q99767-APBA2_HUMAN
Tissue specificity: Brain.

Evidence on tissue expression from TISSUES for APBA2 Gene

  • Nervous system(4.9)
  • Eye(4.3)
  • Intestine(2.4)
genes like me logo Genes that share expression patterns with APBA2: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for APBA2 Gene

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 34 33
  • 99.38 (n)
OneToOne
dog
(Canis familiaris)
Mammalia APBA2 34 33
  • 89.01 (n)
OneToOne
cow
(Bos Taurus)
Mammalia APBA2 34
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Apba2 16 34 33
  • 87.76 (n)
rat
(Rattus norvegicus)
Mammalia Apba2 33
  • 87.18 (n)
oppossum
(Monodelphis domestica)
Mammalia APBA2 34
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia APBA2 34
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves APBA2 34 33
  • 73.52 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia APBA2 34
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia apba2 33
  • 70.88 (n)
Str.15798 33
zebrafish
(Danio rerio)
Actinopterygii apba2b 34 33
  • 72.42 (n)
OneToOne
wufd15a04 33
fruit fly
(Drosophila melanogaster)
Insecta X11L 34
  • 24 (a)
ManyToMany
X11Lbeta 34
  • 13 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea lin-10 34 35
  • 28 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 64 (a)
OneToMany
Species where no ortholog for APBA2 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for APBA2: view image

Paralogs for APBA2 Gene

Paralogs for APBA2 Gene

(2) SIMAP similar genes for APBA2 Gene using alignment to 5 proteins:

  • APBA2_HUMAN
  • H0YL28_HUMAN
  • H0YMS0_HUMAN
  • H0YNE8_HUMAN
  • H0YNG7_HUMAN

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 Variation AA Info Type
rs140055297 likely-benign, not specified 29,106,717(+) G/A coding_sequence_variant, synonymous_variant
rs1000008636 -- 28,950,115(+) C/T genic_upstream_transcript_variant, intron_variant
rs1000017548 -- 29,058,066(+) A/G genic_upstream_transcript_variant, intron_variant
rs1000032692 -- 29,059,211(+) TGAT/T genic_upstream_transcript_variant, intron_variant
rs1000059140 -- 29,046,793(+) A/T genic_upstream_transcript_variant, intron_variant

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

Variant ID Type Subtype PubMed ID
nsv9228 CNV loss 18304495
nsv9227 CNV gain 18304495
nsv9226 CNV loss 18304495
nsv9224 CNV loss 18304495
nsv827267 CNV gain 20364138
nsv820943 CNV deletion 20802225
nsv568678 CNV loss 21841781
nsv568677 CNV loss 21841781
nsv568676 CNV loss 21841781
nsv568675 CNV gain 21841781
nsv568662 CNV gain 21841781
nsv527255 CNV gain 19592680
nsv524362 CNV loss 19592680
nsv522597 CNV loss 19592680
nsv516384 CNV loss 19592680
nsv515798 CNV gain+loss 19592680
nsv477828 CNV novel sequence insertion 20440878
nsv475691 CNV novel sequence insertion 20440878
nsv471232 CNV loss 18288195
nsv1473 CNV deletion 18451855
nsv1148560 OTHER inversion 26484159
nsv1141881 OTHER inversion 24896259
nsv1046856 CNV gain 25217958
nsv1040778 CNV loss 25217958
nsv1039798 CNV gain 25217958
nsv1038806 CNV gain 25217958
esv29781 CNV gain 19812545
esv29060 CNV gain 19812545
esv2751526 CNV loss 17911159

Variation tolerance for APBA2 Gene

Residual Variation Intolerance Score: 23.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.89; 87.08% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for APBA2 Gene

Human Gene Mutation Database (HGMD)
APBA2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
APBA2

SNP Genotyping and Copy Number Assay Products

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

Disorders for APBA2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for APBA2 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
alzheimer disease
  • ad
rectal neoplasm
  • neoplasm of rectum
- elite association - COSMIC cancer census association via MalaCards
Search APBA2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for APBA2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with APBA2: view

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

Publications for APBA2 Gene

  1. Copy number and sequence variants implicate APBA2 as an autism candidate gene. (PMID: 20029827) Babatz TD … Christian SL (Autism research : official journal of the International Society for Autism Research 2009) 3 22 44 58
  2. Regulation of X11L-dependent amyloid precursor protein metabolism by XB51, a novel X11L-binding protein. (PMID: 10833507) Lee DS … Suzuki T (The Journal of biological chemistry 2000) 3 4 22 58
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  4. A genome-wide investigation of SNPs and CNVs in schizophrenia. (PMID: 19197363) Need AC … Goldstein DB (PLoS genetics 2009) 3 44 58
  5. Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation. (PMID: 19736351) Guilmatre A … Campion D (Archives of general psychiatry 2009) 3 44 58

Products for APBA2 Gene

Sources for APBA2 Gene

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