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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

AFF4 Gene

protein-coding   GIFtS: 55
GCID: GC05M132211

AF4/FMR2 Family, Member 4

Microbiology & Infectious Diseases Congress
  See 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)
About This Section

Aliases
AF4/FMR2 Family, Member 41 2     ALL1-Fused Gene From Chromosome 5q31 Protein2 3
AF5Q312 3 5     ALL1 Fused Gene From 5q311
Major CDK9 Elongation Factor-Associated Protein2 3     AF4/FMR2 Family Member 42
MCEF2 3     Protein AF-5q313

External Ids:    HGNC: 178691   Entrez Gene: 271252   Ensembl: ENSG000000723647   OMIM: 6044175   UniProtKB: Q9UHB73   

Export aliases for AFF4 gene to outside databases

Previous GC identifers: GC05M132243 GC05M127403


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

Entrez Gene summary for AFF4 Gene:
The protein encoded by this gene belongs to the AF4 family of transcription factors involved in leukemia. It is a
component of the positive transcription elongation factor b (P-TEFb) complex. A chromosomal translocation
involving this gene and MLL gene on chromosome 11 is found in infant acute lymphoblastic leukemia with
ins(5;11)(q31;q31q23). (provided by RefSeq, Oct 2011)

GeneCards Summary for AFF4 Gene: 
AFF4 (AF4/FMR2 family, member 4) is a protein-coding gene. Diseases associated with AFF4 include lymphoblastic leukemia, and acute lymphoblastic leukemia. GO annotations related to this gene include protein binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is AFF3.

UniProtKB/Swiss-Prot: AFF4_HUMAN, Q9UHB7
Function: Key component of the super elongation complex (SEC), a complex required to increase the catalytic rate
of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the
DNA. In the SEC complex, AFF4 acts as a central scaffold that recruits other factors through direct interactions
with ELL proteins (ELL, ELL2 or ELL3) and the P-TEFb complex. In case of infection by HIV-1 virus, the SEC
complex is recruited by the viral Tat protein to stimulate viral gene expression




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NT_034772.6  NC_018916.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the AFF4 gene promoter:
         HOXA9B   HOXA9   c-Fos   RFX1   AP-1   Nkx2-5   HNF-3beta   Arnt   c-Jun   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAFF4 promoter sequence
   Search SABiosciences Chromatin IP Primers for AFF4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AFF4


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

Entrez Gene cytogenetic band: 5q31   Ensembl cytogenetic band:  5q31.1   HGNC cytogenetic band: 5q31

AFF4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AFF4 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M132211:  view genomic region     (about GC identifiers)

Start:
132,211,071 bp from pter      End:
132,299,354 bp from pter
Size:
88,284 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: AFF4_HUMAN, Q9UHB7 (See protein sequence)
Recommended Name: AF4/FMR2 family member 4  
Size: 1163 amino acids; 127459 Da
Subunit: Interacts with ELL3; the interaction is direct (By similarity). Interacts with ELL2; the interaction is
direct and leads to stabilize ELL2 and prevent ELL2 ubiquitination and degradation. Component of the super
elongation complex (SEC), at least composed of EAF1, MLLT3/AF9, AFF (AFF1 or AFF4), the P-TEFb complex and ELL
(ELL, ELL2 or ELL3). Interacts with ELL
Subcellular location: Nucleus
Developmental stage: Expressed in fetal heart, lung, brain and to a lower extent liver
Sequence caution: Sequence=AAI00288.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential
poly-A sequence; Sequence=BAD92784.1; Type=Erroneous initiation;
1 PDB 3D structure from and Proteopedia for AFF4:
4IMY (3D)    
Secondary accessions: B2RP19 B7WPD2 Q498B2 Q59FB3 Q6P592 Q8TDR1 Q9P0E4
Alternative splicing: 3 isoforms:  Q9UHB7-1   Q9UHB7-2   Q9UHB7-3   

Explore the universe of human proteins at neXtProt for AFF4: NX_Q9UHB7

Explore proteomics data for AFF4 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9UHB7

  • AFF4 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    AFF4 Protein Expression
    REFSEQ proteins: NP_055238.1  
    ENSEMBL proteins: 
     ENSP00000265343   ENSP00000367858   ENSP00000409069   ENSP00000395268  

    Human Recombinant Protein Products for AFF4: 
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    Novus Biologicals AFF4 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for AFF4 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730nucleolus IDA--
    GO:0005739mitochondrion IDA--

    AFF4 for ontologies           About GeneDecksing



    AFF4 Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR007797 TF_AF4/FMR2

    Graphical View of Domain Structure for InterPro Entry Q9UHB7

    ProtoNet protein and cluster: Q9UHB7

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

    UniProtKB/Swiss-Prot: AFF4_HUMAN, Q9UHB7
    Similarity: Belongs to the AF4 family


    AFF4 for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AFF4_HUMAN, Q9UHB7
    Function: Key component of the super elongation complex (SEC), a complex required to increase the catalytic rate
    of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the
    DNA. In the SEC complex, AFF4 acts as a central scaffold that recruits other factors through direct interactions
    with ELL proteins (ELL, ELL2 or ELL3) and the P-TEFb complex. In case of infection by HIV-1 virus, the SEC
    complex is recruited by the viral Tat protein to stimulate viral gene expression

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003700sequence-specific DNA binding transcription factor activity TAS10588740
    GO:0005515protein binding IPI--
         
    AFF4 for ontologies           About GeneDecksing


    Phenotypes:
         8 MGI mutant phenotypes (inferred from 1 allele(MGI details for Aff4):
     behavior/neurological  embryogenesis  endocrine/exocrine gland  growth/size  hematopoietic system 
     mortality/aging  reproductive system  respiratory system 

    AFF4 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Aff4tm1Nosa for AFF4

       inGenious Targeting Laboratory - Custom generated mouse model solutions for AFF4 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for AFF4

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for AFF4 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for AFF4 

    miRNA
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    hsa-miR-124* hsa-miR-576-3p hsa-miR-640 hsa-miR-106a hsa-miR-1260b hsa-miR-128 hsa-miR-138-2* hsa-miR-502-3p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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                         Customized lentivirus expression plasmids for stable overexpression of AFF4 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AFF4


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section




    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for AFF4

    STRING Interaction Network Preview (showing 5 interactants - click image to see 20)

    5/23 Interacting proteins for AFF4 (Q9UHB71, 2, 3 ENSP000002653434) via UniProtKB, MINT, STRING, and/or I2D (see all 23)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SIAH1Q8IUQ42, 3, ENSP000003491564MINT-66990 I2D: score=4 STRING: ENSP00000349156
    CCNT1O605631, 3, ENSP000002619004EBI-395282,EBI-2479671 I2D: score=3 STRING: ENSP00000261900
    MLLT3P425681, 3, ENSP000003696954EBI-395282,EBI-716132 I2D: score=2 STRING: ENSP00000369695
    MLLT1Q031111, 3, ENSP000002526744EBI-395282,EBI-1384215 I2D: score=4 STRING: ENSP00000252674
    MED10Q9BTT43, ENSP000002557644I2D: score=1 STRING: ENSP00000255764
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006366transcription from RNA polymerase II promoter TAS10588740
    GO:0007286spermatid development IEA--

    AFF4 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for AFF4

    Search CenterWatch for drugs/clinical trials and news about AFF4

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for AFF4 gene: 
    NM_014423.3  

    Unigene Cluster for AFF4:

    AF4/FMR2 family, member 4
    Hs.519313  [show with all ESTs]
    Unigene Representative Sequence: NM_014423
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000265343(uc003kyd.3 uc011cxk.2) ENST00000378595(uc003kye.1)
    ENST00000478588 ENST00000378593 ENST00000425658 ENST00000477369 ENST00000491831
    ENST00000465484(uc003kyf.4) ENST00000421773
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat AFF4
    8/163 QIAGEN miScript miRNA Assays for microRNAs that regulate AFF4 (see all 163):
    hsa-miR-124* hsa-miR-576-3p hsa-miR-640 hsa-miR-106a hsa-miR-1260b hsa-miR-128 hsa-miR-138-2* hsa-miR-502-3p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Browse for Gene Knock-down Tools from EMD Millipore
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat AFF4
    Clone
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for AFF4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AFF4
    Sirion Biotech Customized lentivirus for stable overexpression of AFF4 
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AFF4

    Additional mRNA sequence: 

    AB209547.1 AF161355.1 AF173886.1 AF197927.1 AF213987.2 AK024831.1 AK055638.1 AK126818.1 
    AK307407.1 BC025700.1 BC063007.1 BC100287.1 BC137226.1 BC144538.1 

    21 DOTS entries:

    DT.106700  DT.435243  DT.110034  DT.91746494  DT.97858702  DT.91946025  DT.95207548  DT.40249939 
    DT.40260120  DT.120803242  DT.91746492  DT.95366815  DT.120803256  DT.430967  DT.91651639  DT.95248796 
    DT.100749401  DT.101976043  DT.40112133  DT.91660210  DT.97772394 

    24/238 AceView cDNA sequences (see all 238):

    AL044396 AI914070 BP350261 BQ708661 AF173886 BC040454 BM449518 BG288429 
    BQ438036 BP343784 CN478659 NM_014423 BQ722836 BE328052 AK126818 BM836800 
    BX503945 AI672170 BM835510 BU074576 AF197927 BU743052 AI867427 BM718613 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for AFF4    About this scheme

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

    ExUns: 20 ^ 21 ^ 22 ^ 23
    SP1:                        
    SP2:                        
    SP3:                        
    SP4:                        
    SP5:                        


    ECgene alternative splicing isoforms for AFF4

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    AFF4 expression in normal human tissues (normalized intensities)      AFF4 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CGTTTAATGT
    AFF4 Expression
    About this image


    AFF4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/18 selected tissues (see all 18) fully expand
     
     Brain (Nervous System)    fully expand to see all 9 entries
             Thalamus
             ganglion/cranial   
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             heart/atrium   
     
     Nose (Sensory Organs)    fully expand to see all 2 entries
             sensory organ/nose/nasal cavity   
     
     Limb (Muscoskeletal System)    fully expand to see all 2 entries
             limb/hindlimb   

    See AFF4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for AFF4

    SOURCE GeneReport for Unigene cluster: Hs.519313

    UniProtKB/Swiss-Prot: AFF4_HUMAN, Q9UHB7
    Tissue specificity: Ubiquitously expressed. Strongly expressed in heart, placenta, skeletal muscle, pancreas and
    to a lower extent in brain

        SABiosciences Custom PCR Arrays for AFF4
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AFF4
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AFF4

    (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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for AFF4 gene from 5/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Aff41 , 5 AF4/FMR2 family, member 41, 5 89.61(n)1
    93.7(a)1
      11 (31.93 cM)5
    937361  NM_033565.21  NP_291043.11 
     533508335 
    chicken
    (Gallus gallus)
    Aves AFF41 AF4/FMR2 family, member 4 82.19(n)
    87.68(a)
      416337  XM_414653.3  XP_414653.1 
    lizard
    (Anolis carolinensis)
    Reptilia AFF46
    AF4/FMR2 family, member 4
    83(a)
    1 ↔ 1
    2(127206654-127277595)
    zebrafish
    (Danio rerio)
    Actinopterygii aff41 AF4/FMR2 family, member 4 62.72(n)
    65(a)
      556421  XM_679235.6  XP_684327.5 
    fruit fly
    (Drosophila melanogaster)
    Insecta lilli1 lilliputian 37.85(n)
    25.92(a)
      33496  NM_164517.1  NP_722864.1 


    ENSEMBL Gene Tree for AFF4 (if available)
    TreeFam Gene Tree for AFF4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for AFF4 gene
    AFF32  AFF12  AFF22  
    4 SIMAP similar genes for AFF4 using alignment to 5 protein entries:     AFF4_HUMAN (see all proteins):
    AFF3    AFF1    AF-4    AFF2

    AFF4 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for AFF4
    PGOHUM00000238196


    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1762 SNPs in AFF4 are shown (see all 1762)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0646934
    ----see VAR_0646932 S T mis40--------
    rs574217641,2
    C--132215195(+) TGACC-/CTAAAG 1 -- ut310--------
    rs353403881,2
    C--132217906(+) GTCTC-/AAAAAA 1 -- int11Minor allele frequency- A:0.50CSA 2
    rs681524241,2
    C,F--132218566(-) AGAAT-/A/T/TT
            
    TTTTT
    1 -- int12NA 4
    rs1120569951,2
    C--132220942(+) AATACGT/-GTGTG 1 -- int11Minor allele frequency- -:0.50CSA 2
    rs114416081,2
    C--132227492(+) CTATC-/T/TT  
            
    TTTTT
    1 -- int11NA 2
    rs2010353671,2
    C--132233401(+) AAAAA-/AGATAA 1 -- int10--------
    rs352691961,2
    C--132233402(+) ATCTT-/AAAAAA 1 -- int10--------
    rs340992431,2
    C--132234152(+) AAATCG/-GACAA 1 -- int14Minor allele frequency- -:0.10NA CSA 10
    rs343337601,2
    C--132234183(+) TTGTCT/-TTTTT 1 -- int11Minor allele frequency- -:0.50NA 2

    HapMap Linkage Disequilibrium report for AFF4 (132211071 - 132299354 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for AFF4:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2730796CNV Deletion23290073
    nsv830489CNV Loss17160897
    nsv5003CNV Loss18451855
    nsv882919CNV Gain21882294
    nsv830490CNV Gain17160897

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 604417    OMIM disorders: --

    UniProtKB/Swiss-Prot: AFF4_HUMAN, Q9UHB7
  • Note=A chromosomal aberration involving AFF4 is found in acute lymphoblastic leukemia (ALL). Insertion
    ins(5;11)(q31;q13q23) that forms a KMT2A/MLL1-AFF4 fusion protein

  • 4 diseases for AFF4:    About MalaCards
    lymphoblastic leukemia    acute lymphoblastic leukemia    leukemia    mental retardation


    AFF4 for disorders           About GeneDecksing

    Genetic Association Database (GAD): AFF4
    Human Genome Epidemiology (HuGE) Navigator: AFF4 (1 document)

    Export disorders for AFF4 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)
    About This Section

    PubMed articles for AFF4 gene, integrated from 9 sources (see all 54):
    (articles sorted by number of sources associating them with AFF4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. AF5q31, a newly identified AF4-related gene, is fused to MLL in infant acute lymphoblastic leukemia with ins(5;11)(q31;q13q23). (PubMed id 10588740)1, 2, 3, 9 Taki T.... Hayashi Y. (1999)
    2. HIV-1 Tat recruits transcription elongation factors dispersed along a flexible AFF4 scaffold. (PubMed id 23251033)1, 2 Chou S.... Alber T. (2013)
    3. The ubiquitin ligase Siah1 controls ELL2 stability and formation of super elongation complexes to modulate gene transcription. (PubMed id 22483617)1, 2 Liu M....Zhou Q. (2012)
    4. HIV-1 Tat and host AFF4 recruit two transcription elo ngation factors into a bifunctional complex for coordinated activation of HIV-1 transcription. (PubMed id 20471948)1, 2 He N....Zhou Q. (2010)
    5. AFF4, a component of the ELL/P-TEFb elongation comple x and a shared subunit of MLL chimeras, can link transcription elongation to le ukemia. (PubMed id 20159561)1, 2 Lin C....Shilatifard A. (2010)
    6. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    7. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    8. 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. (2004)
    9. MCEF, the newest member of the AF4 family of transcription factors involved in leukemia, is a positive transcription elongation factor-b- associated protein. (PubMed id 12065898)1, 2 Estable M.C....Roeder R.G. (2002)
    10. MCEF is localized to the nucleus by protein sequences encoded within three distinct exons, where it represses HIV-1 Tat-transactivation of LTR-directed transcription. (PubMed id 17389929)1, 9 Niedzielski M.F....Estable M.C. (2007)

    (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, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 27125 HGNC: 17869 AceView: AF5Q31 Ensembl:ENSG00000072364 euGenes: HUgn27125
    ECgene: AFF4 H-InvDB: AFF4

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for AFF4 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for AFF4 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for AFF4 gene:
    Search GeneIP for patents involving AFF4

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



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