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AFF3 Gene

protein-coding   GIFtS: 54

GC02M099627
AF4/FMR2 family, member 3
(Previous name: lymphoid nuclear protein related to AF4 )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: LAF4)
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
LAF4 2, 3
MLLT2-like 1, 2
Descriptions
AF4/FMR2 family, member 3 2
Lymphoid nuclear protein related to AF4 1, 2, 3
MLLT2-related protein 2
Protein LAF-4 3
lymphoid nuclear protein 4 2
External Ids
HGNC: 64731
Entrez Gene: 38992
UniProtKB: P518263
Ensembl: ENSG000001442187
Search outside databases for aliases for AFF3 gene

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

EntrezGene summary for AFF3:
This gene encodes a tissue-restricted nuclear transcriptional activator that is preferentially
expressed in lymphoid tissue. Isolation of this protein initially defined a highly conserved
LAF4/MLLT2 gene family of nuclear transcription factors that may function in lymphoid development
and oncogenesis. In some ALL patients, this gene has been found fused to the gene for MLL.
Multiple alternatively spliced transcript variants that encode different proteins have been found
for this gene. [provided by RefSeq]

UniProtKB/Swiss-Prot: AFF3_HUMAN, P51826
Function: Putative transcription activator that may function in lymphoid development and
oncogenesis. Binds, in vitro, to double-stranded DNA

Gene Wiki entry for AFF3

(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 AFF3 gene  

Entrez Gene cytogenetic band: 2q11.2-q12   Ensembl cytogenetic band:  2q11.2   HGNC cytogenetic band: 2q11.2-q12

AFF3 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 2         GeneLoc Exon Structure

GeneLoc location for GC02M099627:     (about GC identifiers)

Start:
99,530,147 bp from pter
End:
100,125,469 bp from pter
Size:
595,323 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000002.10  NT_022171.14  
(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)
About This Section

UniProtKB/Swiss-Prot: AFF3_HUMAN, P51826 (See protein sequence)
Recommended Name: AF4/FMR2 family member 3  
Size: 1226 amino acids; 133476 Da
Subcellular location: Nucleus
Secondary accessions: Q53RD6 Q53S47 Q53SI6 Q53TB9 Q59F27 Q8IWJ5

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins (2 alternative transcripts): 
    NP_001020279.1  NP_002276.2  


    ENSEMBL proteins: 
    ENSP00000387207 ENSP00000386834 ENSP00000317421 ENSP00000348793 


    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 (LAF4)
    Browse Abnova for Human Recombinant Proteins
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    1 Gene Ontology (GO) cellular component term (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634 nucleus TAS8555498
    About this table

    Antibodies for AFF3: 
    Browse Antibodies Central at Invitrogen
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse Antibodies at Sigma-Aldrich
    Browse R&D Systems for Antibodies
    Antibodies from Abcam (LAF4), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (AFF3)
    Search Novus for antibodies for AFF3

    Assays for AFF3: 
    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

    1 InterPro domain/family:
     IPR007797 AF-4


       GeneDecks  AFF3 for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry P51826

    ProtoNet protein and cluster: P51826

    1 Blocks protein family: IPB007797 AF-4 proto-oncoprotein

    UniProtKB/Swiss-Prot: AFF3_HUMAN, P51826
    Similarity: Belongs to the AF4 family

    (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 (AFF3)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (AFF3)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_002285

                  Applied Biosystems Silencer® siRNAs for AFF3

                  Sigma-Aldrich siRNA for AFF3  
                         Sigma-Aldrich shRNA for AFF3  
                         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 clones in CMV expression vector (see all 2): NM_001025108
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_001025108
                                     untagged cDNA clones in CMV expression vector (see all 3): NM_001025108 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_001025108

    UniProtKB/Swiss-Prot: AFF3_HUMAN, P51826
    Function: Putative transcription activator that may function in lymphoid development and
    oncogenesis. Binds, in vitro, to double-stranded DNA

    1 Gene Ontology (GO) molecular function term (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677 DNA binding IEA--
    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



    2 Interacting proteins for AFF3 (ENSP000003487933) via UniProtKB, MINT, and/or STRING
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ELL2ENSP000002378533STRING (score=.811)
    ELLENSP000002628093STRING (score=.787)
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006350 transcription IEA--
    GO:0006355 regulation of transcription, DNA-dependent IEA--
    GO:0007275 multicellular organismal development TAS8555498
    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 AFF3

    (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 (AFF3)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (AFF3)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_002285

                  Sigma-Aldrich siRNA for AFF3  
                         Sigma-Aldrich shRNA for AFF3  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_001025108  NM_002285  

    REFSEQ mRNAs for AFF3 gene (2 alternative transcripts): 

    NM_001025108.1   NM_002285.2   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_001025108  NM_002285  

                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_001025108
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_001025108
                                     untagged cDNA clones in CMV expression vector (see all 3): NM_001025108 

    Additional cDNA sequence: 

    AB209634.1 AK055117.1 AK091320.1 AK092327.1 AK290468.1 AK297407.1 AK308645.1 AL832702.1 
    BC021283.2 BC036895.1 BC136579.1 BC144266.1 CR596530.1 U34360.1 XM_001715031.1 

    11 DOTS entries:

    DT.445740  DT.213449  DT.86837483  DT.120972230  DT.431851  DT.95262874  DT.120972389  DT.92417628 
    DT.120972330  DT.120972443  DT.75174244 

    24/62 AceView cDNA sequences (see all 62 ):

    AI381467 BC036895 CR596530 AW575892 AW183638 CB409656 BI829437 AW134639 
    AL704329 BE646040 AW172512 AW449091 U34360 AI990465 AA251836 AW167756 
    BM455726 BU929881 AI084050 AK092327 AU118377 BX338308 AI798984 BX112145 

    highest scoring ESTs for AFF3:

    AK092327 BC036895 BI906088 U34360 AA251836 AA258840 AA259002 AA688175 AA744685 AA767530 

    Unigene Cluster for AFF3:

    AF4/FMR2 family, member 3
    Hs.444414  [show with all ESTs]
    Unigene Representative Sequence: NM_002285


    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for AFF3

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^
    SP1:                          -                                                                                                                                 
    SP2:                                                                                                                    -                                       
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 23 ^ 24 ^ 25
    SP1:                  
    SP2:                  
    SP3:                  
    SP4:                  
    SP5:                  

    About this scheme

    ECgene alternative splicing isoforms for AFF3

    4 Ensembl transcripts including schematic representations:
    ENST00000409236  ENST00000409579  ENST00000317233  ENST00000356421  
    (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

    AFF3 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for AFF3

    1 / 2 / 3

    12 probe-sets matching AFF3 gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    87109_at2, 3 U95-D 1 1.00 1.00 0.93 1.22 AI424899 0.60 1.00 0.82 1

    41543_at2, 3 U95-A 1 1.00 1.00 -0.07 0.70 U34360 0.80 1.00 0.91 1
    53751_at2, 3 U95-B 1 1.00 1.00 0.89 1.12 W57554 0.60 1.00 0.82 1

    205734_s_at2, 3 U133-A 1 1.00 1.00 -- -- AI990465 0.60 1.00 0.82 1

    243967_at2, 3 U133-B 1 1.00 1.00 -- -- AI424899 0.60 1.00 0.82 1

    227198_at2, 3 U133-B 1 1.00 1.00 -- -- AW085505 0.40 1.00 0.76 1

    205735_s_at2, 3 U133-A 1 1.00 1.00 -- -- NM_002285 0.60 1.00 0.82 1

    205734_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    243967_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    227198_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    205735_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    1565034_s_at2 U133Plus2 2 1.00 0.50 -- -- -- -- -- -- --
    GeneDecks  AFF3 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: --

    SOURCE GeneReport for Unigene cluster: Hs.444414

    Expression variation in blood from EXPOLDB for AFF3

    UniProtKB/Swiss-Prot: AFF3_HUMAN, P51826
    Tissue specificity: Preferentially expressed in lymphoid tissues, highest levels being found in the
    thymus

    (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 AFF3 gene from 5/6 species (see all 6 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    AFF31   -- AF4/FMR2 family, member 3 91.1(n)
    92.92(a)
    611584  XM_849267.1  XP_854360.1 
    chimpanzee
    (Pan troglodytes)
    AFF31   -- AF4/FMR2 family, member 3 99.39(n)
    99.36(a)
    470450  XM_001160570.1  XP_001160570.1 
    rat
    (Rattus norvegicus)
    Aff31   -- AF4/FMR2 family, member 3 86.56(n)
    88.79(a)
    363220  XM_343559.3  XP_343560.3 
    mouse
    (Mus musculus)
    Aff31, 5 1 (18.70 cM)5
    AF4/FMR2 family, member 31, 5 86.38(n)1
    88.76(a)1
    167641  XM_001477293.11  XP_001477343.11 
     AC1220265  AK0143225  (see all 10)
    chicken
    (Gallus gallus)
    AFF31   -- AF4/FMR2 family, member 3 73.67(n)
    71.88(a)
    418705  XM_001233771.1  XP_001233772.1 
    About this table        Species with no ortholog for AFF3

    ENSEMBL Gene Tree for AFF3
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for AFF3 gene
    AFF12  AFF22  AFF42  

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


    10/2575 NCBI SNPs in AFF3 are shown (see all 2575 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 852)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 2 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs111238071,2
    A,C,F,H100090077(+) AAATAA/GTAGTT 2 -- ng31 int14Minor allele frequency- G:0.26EU EA WA 418
    rs48512121,2
    A,C,F,H99533671(+) GCTGTG/AAGTGT 2 -- ut31 ese38Minor allele frequency- A:0.09EU EA WA 836
    rs134272511,2
    A,C,F,H99532886(+) AGGCCA/TCAAGG 2 -- ut31 ese34Minor allele frequency- T:0.30EU EA WA 412
    rs10472651,2
    C,F,H99577074(-) GAGCAA/GTCAGT 2 N/S mis111Minor allele frequency- G:0.17MN EU EA WA NA 1191
    rs48512231,2
    A,C,H99709989(+) TGCCAT/CTGTCT 2 S/N mis1 ese34Minor allele frequency- C:0.00EU EA WA 418
    rs134292811,2
    F,H100089395(+) AATGTT/ATGCTT 2 -- ng31 int1 tfbs34Minor allele frequency- A:0.01EU EA WA 418
    rs67501391,2
    F,H99530087(+) GTTTCC/TGTGTA 2 -- ng514Minor allele frequency- T:0.01EU EA WA 418
    rs18660331,2
    A100089340(-) CTTTTC/TCTTTT 2 -- ng31 int1 tfbs3 trp30--------
    rs111238061,2
    H100089103(+) TGCAAA/CATGTA 2 -- int1 ng314Minor allele frequency- C:0.00EU EA WA 418
    rs75710751,2
    H99529864(+) cgcgcG/Atgtgt 2 -- ng514Minor allele frequency- A:0.00EU EA WA 416
    About this table

    HapMap Linkage Disequilibrium images for AFF3 (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: 601464

    2 Novoseek disease relationships for AFF3 gene

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    lymphoblastic leukemia acute 67.13 3 12743608 (1), 8555498 (1), 12203795 (1)
    leukemia 29.55 1 8555498 (1)
    About this table

    Human Gene Mutation Database: AFF3
    Human Genome Epidemiology Navigator: AFF3 (1 document)

    (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

    10/18 PubMed articles for AFF3 gene (see all 18 ):
    (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: 3899 HGNC: 6473 AceView: LAF4 Ensembl:ENSG00000144218 euGenes: HUgn3899
    ECgene: AFF3 H-InvDB: AFF3
    (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

    NameDescription
    ATLAS Chromosomes in Cancer entry for AFF3 Genetics and Cytogenetics in Oncology and Haematology
    (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 AFF3:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



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     Predesigned and custom siRNAs for AFF3 Browse antibodies at Sigma-Aldrich
     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
     Lentivirus-delivered shRNAs for AFF3 Browse small molecules at Sigma-Aldrich
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