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

AFF2 Gene

protein-coding   GIFtS: 55
GCID: GC0XP147582

AF4/FMR2 family, member 2

(Previous name: fragile X mental retardation 2 )
(Previous symbol: FMR2)
 Explore 15 diseases affiliated with
AFF2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for AFF2    

Aliases
for AFF2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
AF4/FMR2 Family, Member 21 2     FMR2P2 3
FMR21 2 3 5     OX192 3
FRAXE1 2 5     MRX22 5
Fragile X E Mental Retardation Syndrome Protein2 3     Fragile X Mental Retardation 21
Fragile X Mental Retardation 2 Protein2 3     AF4/FMR2 Family Member 22
Protein FMR-22 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


Summaries
for AFF2 gene

(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 AFF2:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.1  NT_011681.16  
Regulatory elements:
   SABiosciences 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 plasmid: AFF2 promoter sequence
   Search SABiosciences Chromatin IP Primers for AFF2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for AFF2 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: AFF2_HUMAN, P51816 (See protein sequence)
Recommended Name: AF4/FMR2 family member 2  
Size: 1311 amino acids; 144771 Da
Subcellular location: Nucleus speckle. Note=When splicing is inhibited, accumlates in enlarged speckles
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P51816

    • AFF2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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  

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    Uscn Proteins for AFF2

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016607nuclear speck IDA19136466


    AFF2 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for AFF2

    Protein Domains /
    Families
    for AFF2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    AFF2 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR007797 TF_AF4/FMR2

    Graphical View of Domain Structure for InterPro Entry P51816

    ProtoNet protein and cluster: P51816

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

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


    Function
    for AFF2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat AFF2
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    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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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for AFF2 (see all 4)
    OriGene shRNA RFP: AFF2
    OriGene siRNA: AFF2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat AFF2

    Gene Editing
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    Clone
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    Cell Line
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    Search LifeMap BioReagents cell lines for AFF2

    In Situ Assay
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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002151G-quadruplex RNA binding ISS--


    AFF2 for ontologies           About GeneDecksing


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

    AFF2 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for AFF2 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for AFF2

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

    5/6 Interacting proteins for AFF2 (P518163 ENSP000003594894) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    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 (GO ID links to tree view):    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



    Drugs & Compounds
    for AFF2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    AFF2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for AFF2
    1 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about AFF2 

    Transcripts
    for AFF2 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat AFF2
    8/101 QIAGEN miScript miRNA 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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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for AFF2 (see all 4)
    OriGene shRNA RFP: AFF2
    OriGene siRNA: AFF2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat AFF2
    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 6): AFF2 (NM_001169123)
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    Primer
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    Browse OriGene validated miRNA SYBR primer pairs
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AFF2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AFF2

    Additional cDNA 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 

    24/43 AceView cDNA sequences (see all 43):

    AA688417 U48436 F03405 BQ635876 AW341489 F08763 NM_002025 AA641878 
    BX645031 AA641922 M78417 AA765221 Z41797 AJ001550 AB102644 AI962450 
    AI368687 BI755082 BU929158 BI030797 AW183717 BE935744 BE935734 L76569 

    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

    Expression
    for AFF2 gene

    (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

    AFF2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AGAGGGAAGA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    AFF2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    5 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    HeartEndocardiumCushion Mesenchymal CellsEndocardium
    PlacentaChorioallantoic PlacentaExtraembryonic AngioblastsEndothelium
    BoneMandibular ProcessBone
    BoneMaxillary ProcessBone
    KidneyInterstitial StromaKidney
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Posterior foregut-like cells (A scalable, suspensi...)

    See AFF2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for AFF2

    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:     
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    Orthologs
    for AFF2 gene

    (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 eukaryotes.

    Orthologs for AFF2 gene from 5/16 species (see all 16)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves AFF21 AF4/FMR2 family, member 2 68.37(n)
    61.5(a)    		   422394  XM_003641089.1  XP_003641137.1 
    lizard
    (Anolis carolinensis)    		 Reptilia --
    --
    		 --
    		 54(a)
    49(a)
    		 1 ↔ many
    1 ↔ many
    		 GL343310.1(1157698-1189100)
    GL343310.1(1373394-1383344)
    zebrafish
    (Danio rerio)    		 Actinopterygii si:ch211-76h4.16
    		 si:ch211-76h4.1
    		 51(a)
    		 1 ↔ 1
    		 14(21343820-21738251)
    fruit fly
    (Drosophila melanogaster)    		 Insecta lilli6
    		 lilliputian
    		 12(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
    for AFF2 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    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



    Genomic Variants
    for AFF2 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/5629 NCBI SNPs in AFF2 are shown (see all 5629)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr X posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1136693911,2
    		--136537050(+) TATCTG/TTCCCC 5 -- int11Minor allele frequency- T:0.00CSA 1
    rs1913051211,2
    		--147580265(+) TGAGCA/GAGGCC 5 -- us2k10--------
    rs1822902721,2
    		--147580328(+) GAATAA/CATAAG 5 -- us2k10--------
    rs7173771,2
    		C,F,A,--147580452(-) GGAGAC/TGACAT 5 -- us2k18--NA EA MN WA 670
    rs1422971551,2
    		--147580532(+) GTAAAC/TAGACA 5 -- us2k10--------
    rs37622401,2
    		C,F,--147581031(-) GACAGC/TAGACT 5 -- us2k13Minor allele frequency- T:0.50NA WA 6
    rs37622391,2
    		C,F,H,--147581070(-) ACATTA/TTTCAA 5 -- us2k114Minor allele frequency- T:0.48NS EA NA WA 1966
    rs1869577461,2
    		--147581100(+) TATAAC/TGACAC 5 -- us2k10--------
    rs1462084841,2
    		--147581123(+) TTACAG/TGCCTA 5 -- us2k10--------
    rs37622381,2
    		C,F,A,H,--147581166(-) 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 (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 9 variations for AFF2
         5 CNVs: 83825 83822 83821 97053 97052
         4 Indels: 83824 97056 97055 83823
    Human Gene Mutation Database (HGMD): AFF2

    Locus Specific Mutation Databases (LSDB): AFF2

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    Disorders / Diseases
    for AFF2 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    AFF2 for disorders           About GeneDecksing

    OMIM gene information: 300806   
    OMIM disorders: 309548  
    UniProtKB/Swiss-Prot: AFF2_HUMAN, P51816
  • Defects in AFF2 are the cause of 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 adaptative behavior and manifested during the developmental period. Note=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

    15 diseases for AFF2:    About MalaCards
    mental retardation, x-linked, fraxe type    mental retardation, x-linked    mental retardation syndrome    fragile x syndrome
    x-linked disease    spotted fever    premature ovarian failure    intellectual disability
    spinocerebellar ataxia    acute lymphoblastic leukemia    lymphoblastic leukemia    typhus
    twinning    leukemia    ataxia

    9 diseases from the University of Copenhagen DISEASES database for AFF2:
    Intellectual disability     Fragile X syndrome     Typhus     Flinders Island spotted fever
    Japanese spotted fever     Rocky Mountain spotted fever     Boutonneuse fever     Kennedy's disease
    Myotonic dystrophy

    7 Novoseek 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

    Publications
    for AFF2 gene

    (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 AFF2 gene, integrated from 9 sources (see all 59):
    (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. (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. (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. (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. (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. (1996)
    6. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (2005)
    7. Gene diversity patterns at 10 X-chromosomal loci in humans and chimpanzees. (PubMed id 12777533)1, 2 Kitano T.... Paeaebo S. (2003)
    8. 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. (1997)
    9. A candidate gene for mild mental handicap at the FRAXE fragile site. (PubMed id 8824884)1, 2 Chakrabarti L.... Davies K.E. (1996)
    10. FMR2 expression in families with FRAXE mental retardation. (PubMed id 9147647)1, 9 Gecz J....Mulley J.C. (1997)

    External Searches for AFF2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
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    Genome Databases showing AFF2 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2334 HGNC: 3776 AceView: FMR2 Ensembl:ENSG00000155966 euGenes: HUgn2334
    ECgene: AFF2 H-InvDB: AFF2

    Other Databases showing AFF2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing AFF2 gene

    (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 AFF2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/AFF2

    Intellectual Property
    for AFF2 gene

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

    GeneCards and IP:
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