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APBB2 Gene

protein-coding   GIFtS: 58
GCID: GC04M040812

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

  See APBB2-related diseases
at  

(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 B, Member 21 2     Fe65-like1
FE65L12 3 5     Amyloid Beta A4 Precursor Protein-Binding Family B Member 22
Protein Fe65-Like 12 3     Fe65-Like 12
FE65L2 3     

External Ids:    HGNC: 5821   Entrez Gene: 3232   Ensembl: ENSG000001636977   OMIM: 6027105   UniProtKB: Q928703   

Export aliases for APBB2 gene to outside databases

Previous GC identifers: GC04M040883 GC04M041100 GC04M040666 GC04M040732 GC04M040657 GC04M040510 GC04M040134


(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 APBB2 Gene:
The protein encoded by this gene interacts with the cytoplasmic domains of amyloid beta (A4) precursor protein and
amyloid beta (A4) precursor-like protein 2. This protein contains two phosphotyrosine binding (PTB) domains,
which are thought to function in signal transduction. Polymorphisms in this gene have been associated with
Alzheimer's disease. Alternative splicing results in multiple transcript variants. (provided by RefSeq, Oct 2009)

GeneCards Summary for APBB2 Gene:
APBB2 (amyloid beta (A4) precursor protein-binding, family B, member 2) is a protein-coding gene. Diseases associated with APBB2 include alzheimer disease type 2, and alzheimer's disease. GO annotations related to this gene include beta-amyloid binding and transcription factor binding. An important paralog of this gene is APBB3.

UniProtKB/Swiss-Prot: APBB2_HUMAN, Q92870
Function: May modulate the internalization of beta-amyloid precursor protein

Gene Wiki entry for APBB2 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:
NC_000004.11  NT_006238.12  NC_018915.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the APBB2 gene promoter:
         STAT5B   STAT1   Pax-5   STAT4   STAT1beta   STAT5A   STAT1alpha   GATA-2   STAT2   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): APBB2 promoter sequence
   Search Chromatin IP Primers for APBB2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat APBB2


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

Entrez Gene cytogenetic band: 4p13   Ensembl cytogenetic band:  4p13   HGNC cytogenetic band: 4p13

APBB2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
APBB2 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M040812:  view genomic region     (about GC identifiers)

Start:
40,812,044 bp from pter      End:
41,218,731 bp from pter
Size:
406,688 bases      Orientation:
minus 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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: APBB2_HUMAN, Q92870 (See protein sequence)
Recommended Name: Amyloid beta A4 precursor protein-binding family B member 2  
Size: 758 amino acids; 83374 Da
Subunit: Binds to the intracellular domain of the beta-amyloid precursor protein
Sequence caution: Sequence=AAC50805.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of
unknown origin in the N-terminal part;
Secondary accessions: B4DSL4 E9PG87 Q8IUI6
Alternative splicing: 4 isoforms:  Q92870-1   Q92870-2   Q92870-3   Q92870-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for APBB2: NX_Q92870

Explore proteomics data for APBB2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys159
  • Modification sites at PhosphoSitePlus

  • See APBB2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (7 alternative transcripts): 
    NP_001159522.1  NP_001159523.1  NP_001159524.1  NP_001159525.1  NP_001159526.1  NP_004298.1  NP_775098.2  

    ENSEMBL proteins: 
     ENSP00000295974   ENSP00000426018   ENSP00000427307   ENSP00000427211   ENSP00000425802  
     ENSP00000421539   ENSP00000423765   ENSP00000422948   ENSP00000426429   ENSP00000427107  
     ENSP00000421751   ENSP00000421301   ENSP00000425121   ENSP00000424414   ENSP00000424579  
     ENSP00000425202   ENSP00000422723   ENSP00000421205   ENSP00000439357  

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    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for APBB2

     
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    antibodies-online proteins for APBB2 (4 products) 

     
    antibodies-online peptides for APBB2

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    antibodies-online antibodies for APBB2 (44 products) 

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    antibodies-online kits for APBB2 (4 products) 


    (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
     IPR006020 PTB/PI_dom
     IPR001202 WW_dom

    Graphical View of Domain Structure for InterPro Entry Q92870

    ProtoNet protein and cluster: Q92870

    1 Blocks protein domain: IPB006020 Phosphotyrosine interaction domain

    UniProtKB/Swiss-Prot: APBB2_HUMAN, Q92870
    Similarity: Contains 2 PID domains
    Similarity: Contains 1 WW domain


    Find genes that share domains with APBB2           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: APBB2_HUMAN, Q92870
    Function: May modulate the internalization of beta-amyloid precursor protein

         Genatlas biochemistry entry for APBB2:
    amyloid beta (A4) precursor binding protein B2,murine homolog of Fe65 like gene

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001540beta-amyloid binding ISS--
    GO:0005515protein binding IPI16273093
    GO:0008134transcription factor binding ISS--
         
    Find genes that share ontologies with APBB2           About GenesLikeMe


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Apbb2):
     cellular  growth/size/body  mortality/aging  nervous system  normal 

    Find genes that share phenotypes with APBB2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Apbb2tm1Her for APBB2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for APBB2
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for APBB2

    miRNA
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    miRTarBase miRNAs that target APBB2:
    hsa-mir-1260b (MIRT052766), hsa-mir-93-5p (MIRT048805), hsa-mir-9-5p (MIRT021359), hsa-mir-424-5p (MIRT042448), hsa-mir-148b-3p (MIRT019283), hsa-mir-26b-5p (MIRT028935), hsa-mir-335-5p (MIRT016918), hsa-mir-27a-3p (MIRT050013)

    Block miRNA regulation of human, mouse, rat APBB2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate APBB2 (see all 145):
    hsa-miR-411* hsa-miR-520f hsa-miR-106a hsa-miR-605 hsa-miR-134 hsa-miR-1260b hsa-miR-342-3p hsa-miR-3921
    SwitchGear 3'UTR luciferase reporter plasmidAPBB2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for APBB2
    Predesigned siRNA for gene silencing in human, mouse, rat APBB2

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 7): APBB2 (NM_173075)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for APBB2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat APBB2

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for APBB2


    (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
    nucleus4
    cytosol2
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ISS--
    GO:0005737cytoplasm IEA--
    GO:0016020membrane NAS8855266
    GO:0030027lamellipodium ISS--
    GO:0030426growth cone ISS--

    Find genes that share ontologies with APBB2           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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        Pathway & Disease-focused RT2 Profiler PCR Array including APBB2: 
              Alzheimer's Disease in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for APBB2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    Selected Interacting proteins for APBB2 (Q928701, 2, 3 ENSP000002959744) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    APPP050671, 3, ENSP000002849814EBI-79277,EBI-77613 I2D: score=5 STRING: ENSP00000284981
    EGFRP005331, 2, 3, ENSP000002754934EBI-79277,EBI-297353 MINT-74472 MINT-74471 MINT-74474 MINT-74473 I2D: score=1 STRING: ENSP00000275493
    SMURF1Q9HCE73, ENSP000003546214I2D: score=2 STRING: ENSP00000354621
    APLP2Q064813, ENSP000002635744I2D: score=3 STRING: ENSP00000263574
    SMAD4Q134853, ENSP000003415514I2D: score=4 STRING: ENSP00000341551
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001764neuron migration IEA--
    GO:0006355regulation of transcription, DNA-templated ISS--
    GO:0007050cell cycle arrest ISS--
    GO:0007411axon guidance IEA--
    GO:0030198extracellular matrix organization IEA--

    Find genes that share ontologies with APBB2           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
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for APBB2



    (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 APBB2 gene (7 alternative transcripts): 
    NM_001166050.1  NM_001166051.1  NM_001166052.1  NM_001166053.1  NM_001166054.1  NM_004307.1  NM_173075.4  

    Unigene Cluster for APBB2:

    Amyloid beta (A4) precursor protein-binding, family B, member 2
    Hs.479602  [show with all ESTs]
    Unigene Representative Sequence: NM_004307
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 30):
    ENST00000295974(uc010ifu.3 uc003gvl.3 uc003gvn.3 uc003gvm.3)
    ENST00000513140 ENST00000513611 ENST00000508593 ENST00000502841 ENST00000506352
    ENST00000504305 ENST00000502687 ENST00000510925 ENST00000512510 ENST00000510670
    ENST00000514920 ENST00000507831 ENST00000513516 ENST00000513493 ENST00000514094
    ENST00000509475(uc011byt.1) ENST00000504484
    miRNA
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    Block miRNA regulation of human, mouse, rat APBB2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate APBB2 (see all 145):
    hsa-miR-411* hsa-miR-520f hsa-miR-106a hsa-miR-605 hsa-miR-134 hsa-miR-1260b hsa-miR-342-3p hsa-miR-3921
    SwitchGear 3'UTR luciferase reporter plasmidAPBB2 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for APBB2
    Predesigned siRNA for gene silencing in human, mouse, rat APBB2
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    GenScript: all cDNA clones in your preferred vector (see all 7): APBB2 (NM_173075)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat APBB2
    Primer
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    OriGene qPCR primer pairs and template standards for APBB2
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat APBB2
      QuantiTect SYBR Green Assays in human, mouse, rat APBB2
      QuantiFast Probe-based Assays in human, mouse, rat APBB2

    Additional mRNA sequence: 

    AK024871.1 AK226179.1 AK289838.1 AK295974.1 AK299800.1 AK304247.1 AL080130.1 BC027946.1 
    BC088372.1 

    18 DOTS entries:

    DT.455435  DT.306651  DT.100805276  DT.100810565  DT.121255262  DT.97767831  DT.99935411  DT.100028433 
    DT.100805280  DT.95366170  DT.121255397  DT.91697646  DT.121255407  DT.121255448  DT.75120714  DT.99971214 
    DT.40281203  DT.95183247 

    Selected AceView cDNA sequences (see all 236):

    BQ012565 CR621132 BU948373 BQ925153 BM546898 AI609693 BF438341 AA374714 
    T48927 BC027946 AL598595 AA976074 AL600779 BU541286 CD724004 BM705373 
    BM023404 CR620312 AI400246 AI242691 BM677381 CN480500 AW954124 Z46153 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for APBB2 (see all 8)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14a · 14b · 14c ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^
    SP1:              -                                                           -     -                                   -                                       
    SP2:                                                                          -                                         -                                       
    SP3:                                                                          -                                                                                 
    SP4:              -                       -                                                                                                                     
    SP5:                                -                                                                                                                           

    ExUns: 21a · 21b
    SP1:            
    SP2:            
    SP3:            
    SP4:            
    SP5:            


    ECgene alternative splicing isoforms for APBB2

    (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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    APBB2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCTACAGCTG
    APBB2 Expression
    About this image


    APBB2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Blood (Hematopoietic System)
             Mature B-Cells Peripheral Blood
     
     Eye (Sensory Organs)
             Retina
    APBB2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    APBB2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.479602
        Pathway & Disease-focused RT2 Profiler PCR Array including APBB2: 
              Alzheimer's Disease in human mouse rat

    Primer
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    OriGene qPCR primer pairs and template standards for APBB2
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    QuantiFast Probe-based Assays in human, mouse, rat APBB2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for APBB2

    (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 APBB2 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Apbb21 , 5 amyloid beta (A4) precursor protein-binding, family B, member 2 less1, 5 89.23(n)1
    94.2(a)1
      5 (34.43 cM)5
    117871  NM_009686.21  NP_033816.11 
     662988615 
    chicken
    (Gallus gallus)
    Aves APBB21 amyloid beta (A4) precursor protein-binding, family B, member 2 less 82.14(n)
    90.45(a)
      422781  XM_004936096.1  XP_004936153.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    92(a)
    87(a)
    1 ↔ many
    1 ↔ many
    5(100310178-100343103)
    5(100253191-100261067)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia apbb21 amyloid beta (A4) precursor protein-binding, family B, member 2 less 74.63(n)
    82.6(a)
      100144693  NM_001123451.1  NP_001116923.1 
    zebrafish
    (Danio rerio)
    Actinopterygii apbb2b1 amyloid beta (A4) precursor protein-binding, family B, member 2b less 71.52(n)
    77.76(a)
      564990  XM_005168376.1  XP_005168433.1 
    worm
    (Caenorhabditis elegans)
    Secernentea feh-16
    Protein FEH-1, isoform a (feh-1) mRNA, complete cd...
    25(a)
    1 → many
    III(2549927-2560686) WBGene00001410


    ENSEMBL Gene Tree for APBB2 (if available)
    TreeFam Gene Tree for APBB2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for APBB2 gene
    APBB32  APBB12  
    4 SIMAP similar genes for APBB2 using alignment to 14 protein entries:     APBB2_HUMAN (see all proteins):
    DKFZp686G05200    APBB1    APBB3    Fe65L2 isoform 484

    Find genes that share paralogs with APBB2           About GenesLikeMe



    (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 APBB2 (see all 8884)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs114055211,2
    C--40134578(+) AAAAAA/-GTGTC 7 -- ut311Minor allele frequency- -:0.00NA 2
    rs339856541,2
    C--40167427(+) GCTGT-/TTT   
      TATAAA
    ACAAG
    7 -- int10--------
    rs774067881,2
    C--40167437(+) TAAAAA/CAAGCA 7 -- int10--------
    rs624102601,2
    C--40167439(+) AAACAT/AGCATG 7 -- int11Minor allele frequency- A:0.00NA 2
    rs1397910911,2
    --40170007(+) GTGTG-/TGTGTG 7 -- int10--------
    rs1400200141,2
    --40170023(+) GTGTG-/TGT   
       GTGTC
    ATTTA
    7 -- int10--------
    rs113939181,2
    C--40173871(+) CAGCT-/AATTTT 7 -- int11Minor allele frequency- A:0.50NA 2
    rs2020473451,2
    --40177347(+) CACCC-/ACCT  
            
    CTTCC
    7 -- int10--------
    rs1117538801,2
    C--40188142(+) GAACCG/AGGAAG 3 -- int11Minor allele frequency- A:0.50CSA 2
    rs339830761,2
    C--40216994(+) TGTCC-/ATTAGC 3 -- int10--------

    HapMap Linkage Disequilibrium report for APBB2 (40812044 - 41062044 bp, first 250kb of APBB2)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for APBB2 (see all 24):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2727481CNV Deletion23290073
    esv2727480CNV Deletion23290073
    esv1766752CNV Deletion17803354
    esv2656657CNV Deletion23128226
    nsv4308CNV Insertion18451855
    esv273602CNV Insertion20981092
    nsv292366CNV Insertion16902084
    nsv291290CNV Insertion16902084
    esv268140CNV Insertion20981092
    esv268738CNV Insertion20981092

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing APBB2
    DNA2.0 Custom Variant and Variant Library Synthesis for APBB2

    (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: 602710   
    OMIM disorders: 104300  
    2 diseases for APBB2:    
    About MalaCards
    alzheimer disease type 2    alzheimer's disease


    Find genes that share disorders with APBB2           About GenesLikeMe

    1 Novoseek inferred disease relationship for APBB2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    alzheimers disease 47.5 2 9585438 (1), 18852029 (1)

    Genetic Association Database (GAD): APBB2
    Human Genome Epidemiology (HuGE) Navigator: APBB2 (4 documents)

    Export disorders for APBB2 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 APBB2 gene, integrated from 10 sources (see all 32):
    (articles sorted by number of sources associating them with APBB2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Analysis of APBB2 gene polymorphisms in sporadic Alzheimer's disease. (PubMed id 18852029)1, 4, 9 Golanska E....Liberski P.P. (Neurosci. Lett. 2008)
    2. Genetic association of the APP binding protein 2 gene (APBB2) with late onset Alzheimer disease. (PubMed id 15714520)1, 4, 9 Li Y....Grupe A. (Hum. Mutat. 2005)
    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. (PubMed id 9585438)1, 3, 9 Blanco G....McLoughlin D.M. (Mamm. Genome 1998)
    4. An approach based on a genome-wide association study reveals candidate loci for narcolepsy. (PubMed id 20677014)1, 4 Shimada M....Tokunaga K. (Hum. Genet. 2010)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    6. 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)
    7. Association of a novel human FE65-like protein with the cytoplasmic domain of the beta-amyloid precursor protein. (PubMed id 8855266)1, 2 Guenette S.Y.... Tanzi R.E. (Proc. Natl. Acad. Sci. U.S.A. 1996)
    8. Generation of the beta-amyloid peptide and the amyloid precursor protein C-terminal fragment gamma are potentiated by FE65L1. (PubMed id 14527950)1, 9 Chang Y....GuAcnette S.Y. (J. Biol. Chem. 2003)
    9. APBB2 genetic polymorphisms are associated with severe cognitive impairment in centenarians. (PubMed id 23384821)1 Golanska E....Liberski P.P. (Exp. Gerontol. 2013)
    10. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)

    (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: 323 HGNC: 582 AceView: APBB2 Ensembl:ENSG00000163697 euGenes: HUgn323
    ECgene: APBB2 H-InvDB: APBB2

    (According to HUGE)
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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)
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    NameDescription
    PharmGKB entry for APBB2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for APBB2 gene:
    Search GeneIP for patents involving APBB2

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



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