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APBA2 Gene

protein-coding   GIFtS: 59
GCID: GC15P029213

Amyloid Beta (A4) Precursor Protein-Binding, Family A, Member...

(Previous names: X11-like, amyloid beta (A4) precursor protein-binding, family...)
(Previous symbols: X11L, MINT2)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Amyloid Beta (A4) Precursor Protein-Binding, Family A, Member 21 2     HsT168212
MINT21 2 3     LIN-102
X11L1 2 3     MGC:140912
Amyloid Beta (A4) Precursor Protein-Binding, Family A, Member 2 (X11-Like)1 2     X11-BETA2
Adapter Protein X11beta2 3     Amyloid Beta A4 Precursor Protein-Binding Family A Member 22
Neuron-Specific X11L Protein2 3     mint-22
Neuronal Munc18-1-Interacting Protein 22 3     Phosphotyrosine-Binding/-Interacting Domain (PTB)-Bearing Protein2
X11-like1     X11-Like Protein2
D15S1518E2     Mint-23

External Ids:    HGNC: 5791   Entrez Gene: 3212   Ensembl: ENSG000000340537   OMIM: 6027125   UniProtKB: Q997673   

Export aliases for APBA2 gene to outside databases

Previous GC identifers: GC15P024799 GC15P021969 GC15P026792 GC15P026929 GC15P027001 GC15P006871


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. GO annotations related to this gene include beta-amyloid binding. An important paralog of this gene is APBA3.

UniProtKB/Swiss-Prot: APBA2_HUMAN, Q99767
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 Wiki entry for APBA2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NT_187660.1  NC_000015.9  NT_010194.18  NC_018926.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the APBA2 gene promoter:
         Tal-1   p53   AP-4   Tal-1beta   E47   FOXO4   Zic1   ITF-2   Zic3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAPBA2 promoter sequence
   Search Chromatin IP Primers for APBA2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat APBA2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 15q11-q12   Ensembl cytogenetic band:  15q13.1   HGNC cytogenetic band: 15q11-q12

APBA2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
APBA2 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15P029213:  view genomic region     (about GC identifiers)

Start:
29,129,629 bp from pter      End:
29,410,518 bp from pter
Size:
280,890 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: APBA2_HUMAN, Q99767 (See protein sequence)
Recommended Name: Amyloid beta A4 precursor protein-binding family A member 2  
Size: 749 amino acids; 82512 Da
Subunit: 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
Secondary accessions: E9PGI4 O60571 Q5XKC0
Alternative splicing: 2 isoforms:  Q99767-1   Q99767-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for APBA2: NX_Q99767

Explore proteomics data for APBA2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See APBA2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001123886.1  NP_005494.2  

    ENSEMBL proteins: 
     ENSP00000453144   ENSP00000453293   ENSP00000452722   ENSP00000452699   ENSP00000454001  
     ENSP00000453034   ENSP00000453981   ENSP00000453715   ENSP00000454171   ENSP00000409312  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR011993 PH_like_dom
     IPR001478 PDZ
     IPR006020 PTB/PI_dom

    Graphical View of Domain Structure for InterPro Entry Q99767

    ProtoNet protein and cluster: Q99767

    2 Blocks protein domains:
    IPB001478 PDZ/DHR/GLGF domain
    IPB006020 Phosphotyrosine interaction domain


    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
    Similarity: Contains 2 PDZ (DHR) domains
    Similarity: Contains 1 PID domain


    Find genes that share domains with APBA2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: APBA2_HUMAN, Q99767
    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

         Genatlas biochemistry entry for APBA2:
    amyloid beta (A4) precursor binding a protein,family A,member 2 (X11-like),neuron specific

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001540beta-amyloid binding IEA--
    GO:0005515protein binding IPI10833507
         
    Find genes that share ontologies with APBA2           About GenesLikeMe


    Phenotypes:
         7 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Apba2):
     behavior/neurological  growth/size/body  homeostasis/metabolism  mortality/aging  nervous system 
     no phenotypic analysis  normal 

    Find genes that share phenotypes with APBA2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for APBA2: Apba2tm1.1Sud Apba2tm1Tsuz

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for APBA2
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    hsa-miR-3689b hsa-miR-320a hsa-miR-362-3p hsa-miR-1245 hsa-miR-128 hsa-miR-1271 hsa-miR-483-3p hsa-miR-661
    SwitchGear 3'UTR luciferase reporter plasmidAPBA2 3' UTR sequence
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    nucleus2
    plasma membrane2

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane IEA--

    Find genes that share ontologies with APBA2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for APBA2 About    
    See pathways by source

    SuperPathContained pathways About
    1Neuroscience
    Neuroscience


    Find genes that share SuperPaths with APBA2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for APBA2
        Neuroscience



        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for APBA2
    Interactions:

        GeneGlobe Interaction Network for APBA2

    Selected Interacting proteins for APBA2 (Q997672, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 17)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CLSTN1O949852, 3MINT-4544392 I2D: score=3 
    MAPK6Q166592, 3MINT-8260680 I2D: score=2 
    NRXN1P584003I2D: score=3 I2D: score=1 
    APPP050673I2D: score=3 
    NECAB3Q96P713I2D: score=3 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001701in utero embryonic development IEA--
    GO:0007268synaptic transmission IEA--
    GO:0007399nervous system development TAS9890987
    GO:0007626locomotory behavior IEA--
    GO:0010468regulation of gene expression IEA--

    Find genes that share ontologies with APBA2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for APBA2



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for APBA2 gene (2 alternative transcripts): 
    NM_001130414.1  NM_005503.3  

    Unigene Cluster for APBA2:

    Amyloid beta (A4) precursor protein-binding, family A, member 2
    Hs.618112  [show with all ESTs]
    Unigene Representative Sequence: NM_005503
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000561069 ENST00000558402(uc010uat.2 uc001zck.3 uc001zcl.3)
    ENST00000558330(uc010uas.1) ENST00000559814(uc010azj.2) ENST00000559709
    ENST00000558804 ENST00000560283 ENST00000558206 ENST00000558358 ENST00000382938(uc001zcm.1)
    ENST00000558259 ENST00000411764
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    Selected qRT-PCR Assays for microRNAs that regulate APBA2 (see all 28):
    hsa-miR-3689b hsa-miR-320a hsa-miR-362-3p hsa-miR-1245 hsa-miR-128 hsa-miR-1271 hsa-miR-483-3p hsa-miR-661
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    Inhib. RNA
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    Additional mRNA sequence: 

    AB014719.1 AB209281.1 AF029108.1 AF047348.1 AK124794.1 BC082986.1 U79255.1 

    10 DOTS entries:

    DT.452439  DT.97794819  DT.75143115  DT.121053903  DT.121053857  DT.40265919  DT.100779212  DT.121053872 
    DT.92426414  DT.95173528 

    Selected AceView cDNA sequences (see all 106):

    BQ719570 BU931537 BF346192 AI289787 BF206715 BE328318 CR604096 NM_005503 
    BX449230 BF527945 AK124794 BX332225 AL522906 AI493497 BQ072182 BM665057 
    BU165318 BQ889513 AA598991 AL522905 BG166822 AI159879 U79255 AL539317 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for APBA2 (see all 16)    About this scheme

    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:                                -     -     -     -     -           -     -                                                                                 

    ExUns: 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19a · 19b ^ 20a · 20b ^ 21 ^ 22
    SP1:              -                 -                                             
    SP2:  -     -     -     -     -     -     -     -     -     -                     
    SP3:              -                                                               
    SP4:                                -                                             
    SP5:                                                                              


    ECgene alternative splicing isoforms for APBA2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    APBA2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAGCTACCCG
    APBA2 Expression
    About this image


    APBA2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 12) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 6 entries
             Chondrocytes Zeugopod Epiphyseal End
             Zeugopod Long Bone
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Cartilage (Muscoskeletal System)    fully expand to see all 2 entries
             Chondrocytes Zeugopod Epiphyseal End
             Meckel's Cartilage
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             T-Cytotoxic Cells Peripheral Blood
    APBA2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    APBA2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.618112

    UniProtKB/Swiss-Prot: APBA2_HUMAN, Q99767
    Tissue specificity: Brain

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for APBA2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for APBA2 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Apba21 , 5 amyloid beta (A4) precursor protein-binding, family more1, 5 87.76(n)1
    92.52(a)1
      7 (34.65 cM)5
    117841  NM_007461.21  NP_031487.11 
     645017065 
    chicken
    (Gallus gallus)
    Aves APBA21 amyloid beta (A4) precursor protein-binding, family more 73.52(n)
    82.38(a)
      415386  XM_004943758.1  XP_004943815.1 
    lizard
    (Anolis carolinensis)
    Reptilia APBA26
    amyloid beta (A4) precursor protein-binding, famil...
    77(a)
    1 ↔ 1
    GL343644.1(314024-325947)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.157982 Transcribed sequence with strong similarity to protein more 76.77(n)    142022548 
    zebrafish
    (Danio rerio)
    Actinopterygii wufd15a042 Transcribed sequence with strong similarity to protein more 83.52(n)    57055853 
    fruit fly
    (Drosophila melanogaster)
    Insecta X11L6
    X11Lbeta6
    X11Lbeta
    24(a)
    13(a)
    many ↔ many
    many ↔ many
    X(17493641-17500912)
    X(10521770-10604900)
    worm
    (Caenorhabditis elegans)
    Secernentea lin-103 Phosphotyrosine interaction domain
    (PTB/PID)., more
    59(a)   I(8118196-8127374)   --


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for APBA2 gene
    APBA32  APBA12  
    2 SIMAP similar genes for APBA2 using alignment to 5 protein entries:     APBA2_HUMAN (see all proteins):
    APBA1    APBA3

    Find genes that share paralogs with APBA2           About GenesLikeMe


    2 Pseudogenes.org Pseudogenes for APBA2
    PGOHUM00000247082 PGOHUM00000247085


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for APBA2 (see all 4603)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1460714261,2
    Cuntested129385408(+) GAGGCC/TGTCAG 4 A syn11Minor allele frequency- T:0.00NA 4550
    rs791977911,2
    C,F--29211933(+) GGCAAC/ACTCTG 2 -- us2k12Minor allele frequency- A:0.07CSA WA 120
    rs748453431,2
    C,F--29212024(+) CAGTCC/TGAAAC 2 -- us2k12Minor allele frequency- T:0.07CSA WA 120
    rs794841141,2
    C,F--29212090(+) TGCTCC/TGTGTG 2 -- us2k12Minor allele frequency- T:0.06CSA WA 120
    rs1458785131,2
    --29212195(+) CTCCTC/TGGCCT 2 -- us2k10--------
    rs1382651821,2
    C--29212288(+) ACTGTG/TTGCCC 2 -- us2k10--------
    rs733647991,2
    C,F--29212296(+) CCCTCG/TCGGGG 2 -- us2k11Minor allele frequency- T:0.50WA 2
    rs1880770051,2
    --29212309(+) AGGTAC/GGAGCC 2 -- us2k10--------
    rs1813622141,2
    C--29212327(+) GAATGC/GGAGAA 2 -- us2k10--------
    rs1865040051,2
    --29212409(+) CAGAGA/GTGCCT 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for APBA2 (29129629 - 29379629 bp, first 250kb of APBA2)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for APBA2 (see all 22):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv820943CNV Deletion20802225
    nsv524362CNV Loss19592680
    nsv522597CNV Loss19592680
    dgv2290n71CNV Loss21882294
    nsv9228CNV Loss18304495
    nsv9224CNV Loss18304495
    esv2751526CNV Loss17911159
    nsv516384CNV Loss19592680
    nsv9226CNV Loss18304495
    dgv2289n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): APBA2
    Site Specific Mutation Identification with PCR Assays
    1 Copy Number PCR Panel containing APBA2:
    Intellectual Disability
    SeqTarget long-range PCR primers for resequencing APBA2
    DNA2.0 Custom Variant and Variant Library Synthesis for APBA2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602712    OMIM disorders: --


    Find genes that share disorders with APBA2           About GenesLikeMe

    1 Novoseek inferred disease relationship for APBA2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    alzheimers disease 58.2 3 9585438 (1), 12972431 (1)

    Genetic Association Database (GAD): APBA2
    Human Genome Epidemiology (HuGE) Navigator: APBA2 (4 documents)

    Export disorders for APBA2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for APBA2 gene, integrated from 10 sources (see all 50):
    (articles sorted by number of sources associating them with APBA2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Copy number and sequence variants implicate APBA2 as an autism candidate gene. (PubMed id 20029827)1, 4, 9 Babatz T.D....Christian S.L. (Autism Res 2009)
    2. Regulation of X11L-dependent amyloid precursor protein metabolism by XB51, a novel X11L-binding protein. (PubMed id 10833507)1, 2, 9 Lee D.-S.... Suzuki T. (J. Biol. Chem. 2000)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    4. A genome-wide investigation of SNPs and CNVs in schizophrenia. (PubMed id 19197363)1, 4 Need A.C....Goldstein D.B. (PLoS Genet. 2009)
    5. Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation. (PubMed id 19736351)1, 4 Guilmatre A....Campion D. (Arch. Gen. Psychiatry 2009)
    6. Interaction of a neuron-specific protein containing PDZ domains with Alzheimer's amyloid precursor protein. (PubMed id 9890987)1, 2 Tomita S.... Suzuki T. (J. Biol. Chem. 1999)
    7. The X11alpha protein slows cellular amyloid precursor protein processing and reduces Abeta40 and Abeta42 secretion. (PubMed id 9614075)1, 2 Borg J.-P.... Turner R.S. (J. Biol. Chem. 1998)
    8. Mints, Munc18-interacting proteins in synaptic vesicle exocytosis. (PubMed id 9395480)1, 2 Okamoto M. and Suedhof T.C. (J. Biol. Chem. 1997)
    9. Large-scale concatenation cDNA sequencing. (PubMed id 9110174)1, 2 Yu W.... Gibbs R.A. (Genome Res. 1997)
    10. The intracellular cytoplasmic domain of the Alzheimer's disease amyloid precursor protein interacts with phosphotyrosine-binding domain proteins in the yeast two-hybrid system. (PubMed id 8955346)1, 3 McLoughlin D.M. and Miller C.C. (FEBS Lett. 1996)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 321 HGNC: 579 AceView: APBA2 Ensembl:ENSG00000034053 euGenes: HUgn321
    ECgene: APBA2 H-InvDB: APBA2

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for APBA2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for APBA2 gene:
    Search GeneIP for patents involving APBA2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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