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APBB2 Gene

protein-coding   GIFtS: 63

GC04M040510
amyloid beta (A4) precursor protein-binding, family B, member 2
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
DKFZp434E033 2
FE65L 1, 2, 3
FE65L1 1, 2, 3, 5
Fe65-like 2
MGC35575 1, 2
Descriptions
Fe65-like protein 3
amyloid beta (A4) precursor protein-binding, family B,
member 2 2
amyloid beta A4 precursor protein-binding, family B, member
2 2
amyloid beta precursor protein-binding, family B, member 2 1
External Ids
HGNC: 5821
Entrez Gene: 3232
UniProtKB: Q928703
Ensembl: ENSG000001636977
Search outside databases for aliases for APBB2 gene

Previous GC identifers: GC04M040883 GC04M041100 GC04M040666 GC04M040732 GC04M040657

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for APBB2:
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.
[provided by RefSeq]

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

Gene Wiki entry for APBB2

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the APBB2 gene  

Entrez Gene cytogenetic band: 4p14-p13   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)

GeneLoc gene densities for chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M040510:     (about GC identifiers)

Start:
40,510,996 bp from pter
End:
40,911,245 bp from pter
Size:
400,250 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000004.10  NT_006238.10  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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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; 83346 Da
Subunit: Binds to the intracellular domain of the beta-amyloid precursor protein
Secondary accessions: Q8IUI6
Alternative splicing: 2 isoforms:  Q92870-1   Q92870-2   

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_775098.2  

    ENSEMBL proteins: 
    ENSP00000318965 ENSP00000295974 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (APBB2)
    Human Recombinant Proteins from Abnova (APBB2)
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    5 Gene Ontology (GO) cellular component terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634 nucleus ISS--
    GO:0016020 membrane NAS8855266
    GO:0030027 lamellipodium ISS--
    GO:0030426 growth cone ISS--
    GO:0045202 synapse ISS--
    About this table

    Antibodies for APBB2: 
    Browse Antibodies Central at Invitrogen
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for APBB2
    Browse R&D Systems for Antibodies
    Antibodies from Abcam (APBB2), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (APBB2)
    Novus Biologicals Antibodies for APBB2

    Assays for APBB2: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    3 InterPro domains/families:
     IPR006020 PTB_PID
     IPR011993 PH_type
     IPR001202 WW_Rsp5_WWP


       GeneDecks  APBB2 for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry Q92870

    ProtoNet protein and cluster: Q92870

    1 Blocks protein family: IPB006020 Phosphotyrosine interaction domain

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

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (APBB2)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (APBB2)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_173075

                  Applied Biosystems Silencer® siRNAs for APBB2

                  Sigma-Aldrich siRNA for APBB2  
                         Sigma-Aldrich shRNA for APBB2  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Browse Clone Ranger at Invitrogen for clones
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_173075
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_173075
                                     untagged cDNA clone in CMV expression vector: NM_173075 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_173075

    UniProtKB/Swiss-Prot: 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

    4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Apbb2):

    growth/sizelethality-postnatalnervous systemnormal

    2 Gene Ontology (GO) molecular function terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001540 beta-amyloid binding ISS--
    GO:0008134 transcription factor binding ISS--
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section


     Gene Network CentralTM Interacting Genes and Proteins Network for  APBB2 


    5/11 Interacting proteins for APBB2 (Q928701, 2 ENSP000003189653) via UniProtKB, MINT, and/or STRING (see all 11 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    APPP050671, ENSP000002849813EBI-79277, EBI-77613 STRING (score=.994)
    APLP2Q064811, ENSP000002635743EBI-79277, EBI-79306 STRING (score=.989)
    EGFRP005332MINT-74472 MINT-74471 MINT-74474 MINT-74473
    APLP1ENSP000002218913STRING (score=.944)
    APBA2ENSP000002198653STRING (score=.938)
    About this table

    5 Gene Ontology (GO) biological process terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007050 cell cycle arrest ISS--
    GO:0007242 intracellular signaling cascade NAS8855266
    GO:0030308 negative regulation of cell growth ISS--
    GO:0045449 regulation of transcription ISS--
    GO:0045749 negative regulation of S phase of mitotic cell cycle ISS--
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for APBB2

    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (APBB2)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (APBB2)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_173075

                  Sigma-Aldrich siRNA for APBB2  
                         Sigma-Aldrich shRNA for APBB2  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_173075  

    REFSEQ mRNAs for APBB2 gene: 

    NM_173075.4   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_173075  

                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_173075
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_173075
                                     untagged cDNA clone in CMV expression vector: NM_173075 

    Additional cDNA sequence: 

    AK024871.1 AK226179.1 AK289838.1 AK295974.1 AK299800.1 AK304247.1 AL080130.1 BC027946.1 
    BC088372.1 CR607261.1 CR620312.1 CR621132.1 

    18 DOTS entries:

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

    24/236 AceView cDNA sequences (see all 236 ):

    NM_173075 BF223603 BM705373 BG023881 CD724004 BM142507 AL600779 BX394412 
    BC027946 AW874579 CD171921 Z39250 BQ718072 BQ925153 BM722912 BM023404 
    AI400246 T48927 AA866113 BU552516 AI919212 AL080130 AI242691 CR621132 

    highest scoring ESTs for APBB2:

    AA976074 AL582952 AL596608 BI769270 BI918204 AA016163 AA374714 AA448591 AA496214 AA496226 

    Unigene Cluster for APBB2:

    Amyloid beta (A4) precursor protein-binding, family B, member 2
    Hs.479602  [show with all ESTs]
    Unigene Representative Sequence: NM_173075


    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for APBB2 (see all 8 )

    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:            

    About this scheme

    ECgene alternative splicing isoforms for APBB2

    2 Ensembl transcripts including schematic representations:
    ENST00000316212  ENST00000295974  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    APBB2 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for APBB2

    1 / 2 / 3

    16 probe-sets matching APBB2 gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

    40530_at2, 3 U95-A 1 1.00 1.00 0.65 0.79 AL080130 0.40 1.00 0.76 1

    67956_at2, 3 U95-E 1 1.00 1.00 0.62 0.46 AI795836 0.60 1.00 0.82 1

    40148_at2, 3 U133-A 1 1.00 1.00 0.77 1.18 U62325 0.80 0.81 0.81 1
    84073_at2, 3 U95-E 1 0.88 1.00 0.87 1.70 AA976074 0.80 1.00 0.91 1

    213419_at2, 3 U133-A 1 1.00 1.00 -- -- U62325 0.80 0.81 0.81 1

    212985_at2, 3 U133-A 1 1.00 1.00 -- -- BF115739 0.40 1.00 0.76 1

    216750_at2, 3 U133-A 1 1.00 1.00 -- -- AK024871 0.40 0.67 0.55 1

    40148_at2, 3 U133-A 1 1.00 1.00 -- -- U62325 0.80 0.81 0.81 1

    212970_at2, 3 U133-A 1 1.00 1.00 -- -- AI694303 0.40 1.00 0.76 1

    212972_x_at2, 3 U133-A 46 1.00 0.77 -- -- AL080130 0.40 1.00 0.76 1

    213419_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    212985_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    216750_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    40148_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    212970_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    212972_x_at2 U133Plus2 46 1.00 0.77 -- -- -- -- -- -- --
    GeneDecks  APBB2 for binary patterns associated with the probe-sets selected above  
    About GeneDecksing
    About this table    
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: TCTACAGCTG

    SOURCE GeneReport for Unigene cluster: Hs.479602

    Expression variation in blood from EXPOLDB for APBB2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for APBB2 gene from 5/8 species (see all 8 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    APBB21   -- amyloid beta (A4) precursor protein-binding, family more 91.53(n)
    94.43(a)
    488831  XM_857954.1  XP_863047.1 
    chimpanzee
    (Pan troglodytes)
    APBB21   -- amyloid beta (A4) precursor protein-binding, family more 99.41(n)
    99.86(a)
    461184  XM_001146547.1  XP_001146547.1 
    cow
    (Bos taurus)
    APBB21   -- amyloid beta (A4) precursor protein-binding, family more 90.83(n)
    94.28(a)
    514013  NM_001076847.1  NP_001070315.1 
    rat
    (Rattus norvegicus)
    Apbb21   -- amyloid beta (A4) precursor protein-binding, family more 87.39(n)
    91.99(a)
    305338  XM_223399.4  XP_223399.4 
    mouse
    (Mus musculus)
    Apbb21, 5 55
    amyloid beta (A4) precursor protein-binding, family more1, 5 88.9(n)1
    94.02(a)1
    117871  NM_009686.11  NP_033816.11 
     AF1336655  AK0047925  (see all 32)
    About this table        Species with no ortholog for APBB2

    ENSEMBL Gene Tree for APBB2
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for APBB2 gene
    APBB32  APBB12  

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/2852 NCBI SNPs in APBB2 are shown (see all 2852 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 794)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 4 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs135181,2
    A,C,F,H,O40510025(-) GTATTA/CTCTTT 1 -- ut319Minor allele frequency- C:0.29MN NA EU EA WA 930
    rs131156361,2
    A,C,F,H40912003(+) GTAAAC/TGGTAA 1 -- ng314Minor allele frequency- T:0.07EU EA WA 418
    rs48613581,2
    A,C,F,H40710656(+) TGCCTT/CGGTTC 1 Q/R mis1 ese311Minor allele frequency- C:0.32NA EU EA WA 974
    rs119401141,2
    A,C,F,H40911306(+) ACGGGC/TTCCGG 1 -- ut518Minor allele frequency- T:0.07EU EA WA 838
    rs117314721,2
    C,F,H40508471(+) GATACT/CCCAAT 1 -- ut313Minor allele frequency- C:0.17EA WA 254
    rs64474491,2
    A,C,H40508067(+) cggacG/Atggtg 1 -- ut314Minor allele frequency- A:0.00EU EA WA 418
    rs48613141,2
    C,F,H40507426(+) CTTATT/CGTATT 1 -- ut3110Minor allele frequency- C:0.20NA EU EA WA 832
    rs126425081,2
    C,H40522696(+) AGTACT/CGCACG 1 R/Q mis14Minor allele frequency- C:0.00EU EA WA 406
    --
    rs100101011,2
    C40911888(+) GGAGAA/GATACA 1 -- ng31 trp30--------
    --
    rs131193941,2
    A40911432(+) CGGGGA/CGGGGG 1 -- ng31 tfbs3 trp30--------
    About this table

    HapMap Linkage Disequilibrium images for APBB2 (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 602710   disorders: 104300  

    1 Novoseek disease relationship for APBB2 gene

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    alzheimers disease 48.75 2 9585438 (1), 18852029 (1)
    About this table

    1 PharmGKB disease relationship for APBB2 gene
    Disease PharmGKB Relations PubMed IDs for articles supporting these relationships
    Leukemia, Lymphocytic, Acute, L1FA  GN  12730115
    About this table

    Genetic Association Database: APBB2
    Human Genome Epidemiology Navigator: APBB2 (3 documents)

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    10/14 PubMed articles for APBB2 gene (see all 14 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    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, and/or H-InvDB)
    About This Section

    Entrez Gene: 323 HGNC: 582 AceView: APBB2 Ensembl:ENSG00000163697 euGenes: HUgn323
    ECgene: APBB2 H-InvDB: APBB2
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

      --
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for APBB2:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



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     Predesigned and custom siRNAs for APBB2 Antibodies for APBB2
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