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

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)
About This Section

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

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 mental retardation, and fragile xe syndrome. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.2  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 plasmidAFF2 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

(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: 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

Explore proteomics data for AFF2 at MOPED 

Post-translational modifications:

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

  • AFF2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    AFF2 Protein Expression
    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  

    Human Recombinant Protein Products for AFF2: 
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    Novus Biologicals AFF2 Protein
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. 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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    Cloud-Clone Corp. ELISAs for AFF2 
    Cloud-Clone Corp. CLIAs for AFF2


    (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 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,
    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: 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 (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


    Phenotypes:
         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

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for AFF2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for AFF2

       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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    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
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AFF2


    (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 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



    (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

    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 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)

    Search CenterWatch for drugs/clinical trials and news about AFF2

    (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 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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    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
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for AFF2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AFF2
    Sirion Biotech Customized lentivirus for stable overexpression of AFF2 
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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 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 

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

    F03405 AA641922 Z41797 AB102644 AW341489 AJ001550 BQ635876 M78417 
    AA641878 NM_002025 U48436 F08763 AA765221 AI962450 AA688417 BX645031 
    BI755082 BU929158 BI030797 X95463 L76569 AI368687 BE935734 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™, 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)      AFF2 embryonic expression: see
    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 
     5/5 selected tissues (see all 5) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Cerebral Cortex
             cerebellum   
     
     Blood (Hematopoietic System)
             Granulocytes Peripheral Blood
     
     Pancreas (Endocrine System)
             Posterior foregut-like cells ( A scalable, suspension protocol for derivation of...
     
     Bone (Muscoskeletal System)
             Mandibular Process
     
     Neural Tube (Nervous System)
             Telencephalon

    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

        SABiosciences Custom PCR Arrays for AFF2
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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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for AFF2 gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Aff21 , 5 AF4/FMR2 family, member 21, 5 88.42(n)1
    89.24(a)1
      X (35.53 cM)5
    142661  NM_008032.31  NP_032058.21 
     693602945 
    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 AFF26
    AF4/FMR2 family, member 2
    56(a)
    1 ↔ 1
    GL343310.1(1157698-1383312)
    zebrafish
    (Danio rerio)
    Actinopterygii aff26
    AF4/FMR2 family, member 2
    49(a)
    1 ↔ 1
    14(21343820-21738251)
    fruit fly
    (Drosophila melanogaster)
    Insecta lilli6
    lilliputian
    13(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)
    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



    (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

    10/6673 SNPs in AFF2 are shown (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) 10/18 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
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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.)
    About This Section
    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
    adaptative 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

  • 20 diseases for AFF2:    About MalaCards
    mental retardation    fragile xe syndrome    flinders island spotted fever    mental retardation, x-linked, fraxe type
    spotted fever    rocky mountain spotted fever    japanese spotted fever    fragile x syndrome
    non-specific x-linked mental retardation    kennedy's disease    boutonneuse fever    x-linked disease
    typhus    premature ovarian failure    mental retardation, x-linked    myotonic dystrophy
    intellectual disability    acute lymphoblastic leukemia    lymphoblastic leukemia    leukemia

    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)
    About This Section

    PubMed articles for AFF2 gene, integrated from 9 sources (see all 67):
    (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. Familial intellectual disability and autistic behavior caused by a small FMR2 gene deletion. (PubMed id 21739600)1, 2 Stettner G.M.... Auber B. (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. (2010)
    8. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (2005)
    9. Gene diversity patterns at 10 X-chromosomal loci in humans and chimpanzees. (PubMed id 12777533)1, 2 Kitano T.... Paeaebo S. (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. (1997)

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

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

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



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