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AFF2 Gene

protein-coding   GIFtS: 56
GCID: GC0XP147582

AF4/FMR2 Family, Member 2

(Previous name: fragile X mental retardation 2)
(Previous symbol: FMR2)
  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)
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Aliases
AF4/FMR2 Family, Member 21 2     OX192 3
FMR21 2 3 5     FRAXE2 5
Fragile X E Mental Retardation Syndrome Protein2 3     MRX22 5
Fragile X Mental Retardation 2 Protein2 3     Fragile X Mental Retardation 21
Protein FMR-22 3     AF4/FMR2 Family Member 22
FMR2P2 3     Protein Ox193

External Ids:    HGNC: 37761   Entrez Gene: 23342   Ensembl: ENSG000001559667   OMIM: 3008065   UniProtKB: P518163   

Export aliases for AFF2 gene to outside databases

Previous GC identifers: GC0XP147288 GC0XP147389 GC0XP136538


(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 AFF2 Gene:
This gene encodes a putative transcriptional activator that is a member of the AF4\FMR2 gene family. This gene is
associated with the folate-sensitive fragile X E locus on chromosome X. A repeat polymorphism in the fragile X E
locus results in silencing of this gene causing Fragile X E syndrome. Fragile X E syndrome is a form of
nonsyndromic X-linked mental retardation. Alternate splicing results in multiple transcript variants.(provided by
RefSeq, Dec 2009)

GeneCards Summary for AFF2 Gene:
AFF2 (AF4/FMR2 family, member 2) is a protein-coding gene. Diseases associated with AFF2 include flinders island spotted fever, and spotted fever. GO annotations related to this gene include G-quadruplex RNA binding. An important paralog of this gene is AFF3.

UniProtKB/Swiss-Prot: AFF2_HUMAN, P51816
Function: RNA-binding protein. Might be involved in alternative splicing regulation through an interaction with
G-quartet RNA structure

Gene Wiki entry for AFF2 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:
NC_000023.11  NC_018934.2  NT_011681.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the AFF2 gene promoter:
         Nkx3-1   Elk-1   HTF   Nkx3-1 v1   Nkx2-5   Nkx3-1 v2   S8   POU2F1   POU2F1a   Nkx3-1 v3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAFF2 promoter sequence
   Search Chromatin IP Primers for AFF2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat AFF2


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

Entrez Gene cytogenetic band: Xq28   Ensembl cytogenetic band:  Xq28   HGNC cytogenetic band: Xq28

AFF2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AFF2 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP147582:  view genomic region     (about GC identifiers)

Start:
147,582,139 bp from pter      End:
148,082,193 bp from pter
Size:
500,055 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: AFF2_HUMAN, P51816 (See protein sequence)
Recommended Name: AF4/FMR2 family member 2  
Size: 1311 amino acids; 144771 Da
Secondary accessions: A2RTY4 B4DXD5 B7WNQ1 B7ZLD6 B7ZLD9 O43786 O60215 P78407 Q13521 Q14323
Q7Z2F7 Q7Z400 Q9UNA5
Alternative splicing: 7 isoforms:  P51816-1   P51816-2   P51816-3   P51816-4   P51816-5   P51816-6   P51816-7   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for AFF2: NX_P51816

Explore proteomics data for AFF2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys404
  • Modification sites at PhosphoSitePlus

  • See AFF2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (6 alternative transcripts): 
    NP_001162593.1  NP_001162594.1  NP_001162595.1  NP_001162596.1  NP_001164099.1  NP_002016.2  

    ENSEMBL proteins: 
     ENSP00000359489   ENSP00000345459   ENSP00000359487   ENSP00000359486   ENSP00000286437  

    AFF2 Human Recombinant Protein Products:

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    LSBio Antibodies in human, mouse, rat for AFF2

    AFF2 Assay Products:

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    Cloud-Clone Corp. CLIAs for AFF2


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

    Graphical View of Domain Structure for InterPro Entry P51816

    ProtoNet protein and cluster: P51816

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

    UniProtKB/Swiss-Prot: AFF2_HUMAN, P51816
    Similarity: Belongs to the AF4 family


    AFF2 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AFF2_HUMAN, P51816
    Function: RNA-binding protein. Might be involved in alternative splicing regulation through an interaction with
    G-quartet RNA structure

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002151G-quadruplex RNA binding ISS--
         
    AFF2 for ontologies           About GeneDecksing


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Aff2):
     behavior/neurological  growth/size/body  integument  mortality/aging  nervous system 

    AFF2 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for AFF2
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for AFF2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for AFF2

    miRNA
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    Block miRNA regulation of human, mouse, rat AFF2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate AFF2 (see all 101):
    hsa-miR-549 hsa-miR-3130-5p hsa-miR-26a-2* hsa-miR-607 hsa-miR-520e hsa-miR-1224-3p hsa-miR-106a hsa-miR-149
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat AFF2

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    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AFF2

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AFF2


    (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 UniProtKB/Swiss-Prot
    AFF2_HUMAN, P51816: Nucleus speckle. Note=When splicing is inhibited, accumulates in enlarged speckles
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016607nuclear speck IDA19136466

    AFF2 for ontologies           About GeneDecksing


    (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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for AFF2
    Interactions:

        Search GeneGlobe Interaction Network for AFF2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    Selected Interacting proteins for AFF2 (P518163 ENSP000003594894) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CRKP461083, ENSP000003005744I2D: score=1 STRING: ENSP00000300574
    PLCG1P191743, ENSP000002440074I2D: score=1 STRING: ENSP00000244007
    GRB2P629933, ENSP000003390074I2D: score=1 STRING: ENSP00000339007
    NCK1P163333, ENSP000002889864I2D: score=1 STRING: ENSP00000288986
    SREBF2Q127723I2D: score=1 
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006397mRNA processing IEA--
    GO:0007420brain development TAS8673086
    GO:0007611learning or memory IEA--
    GO:0008380RNA splicing IEA--
    GO:0043484regulation of RNA splicing IMP19136466

    AFF2 for ontologies           About GeneDecksing



    (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 AFF2

    1 Novoseek inferred chemical compound relationship for AFF2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    folate 18.2 2 8673085 (2)



    AFF2 for compounds           About GeneDecksing



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for AFF2 gene (6 alternative transcripts): 
    NM_001169122.1  NM_001169123.1  NM_001169124.1  NM_001169125.1  NM_001170628.1  NM_002025.3  

    Unigene Cluster for AFF2:

    AF4/FMR2 family, member 2
    Hs.496911  [show with all ESTs]
    Unigene Representative Sequence: NM_002025
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000370460(uc004fcq.3 uc004fcp.3 uc004fcr.3 uc011mxb.2)
    ENST00000342251 ENST00000370458 ENST00000370457(uc004fco.3 uc004fcs.3)
    ENST00000286437(uc011mxc.2)
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate AFF2 (see all 101):
    hsa-miR-549 hsa-miR-3130-5p hsa-miR-26a-2* hsa-miR-607 hsa-miR-520e hsa-miR-1224-3p hsa-miR-106a hsa-miR-149
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat AFF2
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    OriGene ORF clones in mouse, rat for AFF2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 6): AFF2 (NM_001169123)
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    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for AFF2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat AFF2
      QuantiTect SYBR Green Assays in human, mouse, rat AFF2
      QuantiFast Probe-based Assays in human, mouse, rat AFF2

    Additional mRNA sequence: 

    AB102644.1 AJ001550.1 AK301927.1 AK311467.1 BC132683.1 BC143740.1 BC143744.1 L76569.1 
    X95463.1 

    4 DOTS entries:

    DT.312532  DT.121277975  DT.92423404  DT.100742604 

    Selected AceView cDNA sequences (see all 43):

    AA641922 BX645031 NM_002025 U48436 M78417 F08763 AA765221 AA688417 
    AA641878 AJ001550 F03405 BQ635876 AI962450 AW341489 Z41797 AB102644 
    BU929158 BE935734 BI030797 L76569 AW183717 X95463 BI755082 BE935744 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for AFF2    About this scheme

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


    ECgene alternative splicing isoforms for AFF2

    (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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    AFF2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGAGGGAAGA
    AFF2 Expression
    About this image


    AFF2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             Ureteric Bud Cells Ureteric Bud
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Bone (Muscoskeletal System)
             Mandibular Process
     
     Blood (Hematopoietic System)
             Granulocytes Peripheral Blood
     
     Neural Tube (Nervous System)
             Telencephalon
    AFF2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    AFF2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.496911

    UniProtKB/Swiss-Prot: AFF2_HUMAN, P51816
    Tissue specificity: Brain (most abundant in hippocampus and amygdala), placenta and lung

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AFF2

    (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 eukaryotes.

    Orthologs for AFF2 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Aff25 AF4/FMR2 family, member 2   --   X (35.53 cM) 69360294 
    chicken
    (Gallus gallus)
    Aves AFF21 AF4/FMR2 family, member 2 68.7(n)
    62.26(a)
      422394  XM_003641089.2  XP_003641137.2 
    lizard
    (Anolis carolinensis)
    Reptilia AFF26
    AF4/FMR2 family, member 2
    57(a)
    1 ↔ 1
    GL343310.1(1157698-1383312)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia aff21 AF4/FMR2 family, member 2 64.83(n)
    60.62(a)
      100487096  XM_002934547.2  XP_002934593.2 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1003300191 AF4/FMR2 family member 2-like 61.63(n)
    57.52(a)
      100330019  XM_002664383.2  XP_002664429.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta lilli6
    lilliputian
    15(a)
    1 → many
    2L(2885929-2954406)
    rice
    (Oryza sativa)
    Liliopsida AK108910.12   -- 72.53(n)    AK108910.1 


    ENSEMBL Gene Tree for AFF2 (if available)
    TreeFam Gene Tree for AFF2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for AFF2 gene
    AFF32  AFF12  AFF42  
    2 SIMAP similar genes for AFF2 using alignment to 2 protein entries:     AFF2_HUMAN (see all proteins):
    AFF4    AFF3

    AFF2 for paralogs           About GeneDecksing



    (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 AFF2 (see all 6673)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1136693911,2
    F--136537050(+) TATCTG/TTCCCC 5 -- int11Minor allele frequency- T:0.00CSA 1
    rs1913051211,2
    --147533274(+) TGAGCA/GAGGCC 5 -- us2k10--------
    rs1822902721,2
    C--147533337(+) GAATAA/CATAAG 5 -- us2k10--------
    rs7173771,2
    C,F,A--147533461(-) GGAGAC/TGACAT 5 -- us2k18--NA EA MN WA 670
    rs1422971551,2
    C--147533541(+) GTAAAC/TAGACA 5 -- us2k10--------
    rs37622401,2
    C,F--147534040(-) GACAGC/TAGACT 5 -- us2k13Minor allele frequency- T:0.50NA WA 6
    rs37622391,2
    C,F,H--147534079(-) ACATTA/TTTCAA 5 -- us2k114Minor allele frequency- T:0.48NS EA NA WA 1966
    rs1869577461,2
    --147534109(+) TATAAC/TGACAC 5 -- us2k10--------
    rs1462084841,2
    C--147534132(+) TTACAG/TGCCTA 5 -- us2k10--------
    rs37622381,2
    C,F,A,H--147534175(-) GGACCG/ACTTTC 5 -- us2k114Minor allele frequency- A:0.19NS EA NA CSA 1975

    HapMap Linkage Disequilibrium report for AFF2 (147582139 - 147832139 bp, first 250kb of AFF2)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for AFF2 (see all 18):    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv1385e201CNV Deletion23290073
    esv2740590CNV Deletion23290073
    esv2740588CNV Deletion23290073
    esv2740817CNV Deletion23290073
    nsv7142CNV Insertion18451855
    esv274218CNV Insertion20981092
    esv1732096CNV Insertion17803354
    esv1254777CNV Insertion17803354
    esv1373270CNV Insertion17803354
    esv1401412CNV Insertion17803354

    Human Gene Mutation Database (HGMD): AFF2
    Locus Specific Mutation Databases (LSDB): AFF2

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 300806   
    OMIM disorders: 309548  
    UniProtKB/Swiss-Prot: AFF2_HUMAN, P51816
  • Mental retardation, X-linked, associated with fragile site FRAXE (MRFRAXE) [MIM:309548]: A form of mild
    to moderate mental retardation associated with learning difficulties, communication deficits, attention problems,
    hyperactivity, and autistic behavior. It is associated with a fragile site on chromosome Xq28. Mental retardation
    is characterized by significantly below average general intellectual functioning associated with impairments in
    adaptive behavior and manifested during the developmental period. Note=The disease is caused by mutations
    affecting the gene represented in this entry. It is caused either by silencing of the AFF2 gene as a consequence
    of a CCG expansion located upstream of this gene or by deletion within the gene. Loss of AFF2 expression is
    correlated with FRAXE CCG(N) expansion. Normal individuals have 6-35 copies of the repeat, whereas
    cytogenetically positive, developmentally delayed males have more than 200 copies and show methylation of the
    associated CPG island

  • Selected diseases for AFF2 (see all 22):    
    About MalaCards
    flinders island spotted fever    spotted fever    mental retardation    fragile xe syndrome
    rocky mountain spotted fever    japanese spotted fever    boutonneuse fever    fragile x syndrome
    kennedy's disease    x-linked disease    non-specific x-linked mental retardation    typhus
    mental retardation, x-linked    premature ovarian failure    myotonic dystrophy    intellectual disability
    autism spectrum disorder    lymphoblastic leukemia    leukemia    cerebritis

    6 diseases from the University of Copenhagen DISEASES database for AFF2:
    Intellectual disability     Fragile X syndrome     Typhus     Spotted fever
    Kennedy's disease     Myotonic dystrophy

    AFF2 for disorders           About GeneDecksing

    7 Novoseek inferred disease relationships for AFF2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    fraxe syndrome 96.6 2 17506108 (1), 14526173 (1)
    fragile x syndrome 85.7 2 11462240 (1), 17506108 (1)
    mental retardation 81.7 27 10651894 (3), 9341861 (2), 14526173 (2), 11246464 (2) (see all 17)
    moderate mental retardation 77.9 2 19136466 (1)
    mild mental retardation 74.2 4 8673085 (1), 10222796 (1)
    developmental delay 54.1 1 10196698 (1)
    genetic disorder 23.7 1 10964075 (1)

    Genetic Association Database (GAD): AFF2
    Human Genome Epidemiology (HuGE) Navigator: AFF2 (2 documents)

    Export disorders for AFF2 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 AFF2 gene, integrated from 10 sources (see all 69):
    (articles sorted by number of sources associating them with AFF2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of the gene FMR2, associated with FRAXE mental retardation. (PubMed id 8673085)1, 2, 9 Gecz J.... Mulley J.C. (Nat. Genet. 1996)
    2. FRAXE-associated mental retardation protein (FMR2) is an RNA-binding protein with high affinity for G-quartet RNA forming structure. (PubMed id 19136466)1, 2, 9 Bensaid M.... Bardoni B. (Nucleic Acids Res. 2009)
    3. Expansion mutation frequency and CGG/GCC repeat polymorphism in FMR1 and FMR2 genes in an Indian population. (PubMed id 11119302)1, 4, 9 Sharma D....Thelma B.K. (Genet. Epidemiol. 2001)
    4. Expression of the murine homologue of FMR2 in mouse brain and during development. (PubMed id 9467002)1, 2, 9 Chakrabarti L.... Davies K.E. (Hum. Mol. Genet. 1998)
    5. Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island. (PubMed id 8673086)1, 2, 9 Gu Y.... Nelson D.L. (Nat. Genet. 1996)
    6. Familial intellectual disability and autistic behavior caused by a small FMR2 gene deletion. (PubMed id 21739600)1, 2 Stettner G.M.... Auber B. (Am. J. Med. Genet. A 2011)
    7. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PubMed id 20734064)1, 4 He C....Hunter D.J. (Hum. Genet. 2010)
    8. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (Nature 2005)
    9. Gene diversity patterns at 10 X-chromosomal loci in humans and chimpanzees. (PubMed id 12777533)1, 2 Kitano T.... Paeaebo S. (Mol. Biol. Evol. 2003)
    10. Gene structure and subcellular localization of FMR2, a member of a new family of putative transcription activators. (PubMed id 9299237)1, 2 Gecz J.... Mulley J.C. (Genomics 1997)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
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      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: 2334 HGNC: 3776 AceView: FMR2 Ensembl:ENSG00000155966 euGenes: HUgn2334
    ECgene: AFF2 H-InvDB: AFF2

    (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 AFF2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=AFF2[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for AFF2 gene:
    Search GeneIP for patents involving AFF2

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



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