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

U2AF2 Gene

protein-coding   GIFtS: 57
GCID: GC19P056165

U2 Small Nuclear RNA Auxiliary Factor 2

(Previous name: U2 (RNU2) small nuclear RNA auxiliary factor 2)
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
U2 Small Nuclear RNA Auxiliary Factor 21 2     hU2AF652 3
U2 SnRNP Auxiliary Factor Large Subunit1 2 3     U2 Auxiliary Factor 65 KDa Subunit2 3
U2 (RNU2) Small Nuclear RNA Auxiliary Factor 21 2     Splicing Factor U2AF 65 KD Subunit1
U2 Small Nuclear Ribonucleoprotein Auxiliary Factor (65kD)1 2     Splicing Factor U2AF 65 KDa Subunit2
U2AF652 3     hU2AF(65)3

External Ids:    HGNC: 231561   Entrez Gene: 113382   Ensembl: ENSG000000632447   OMIM: 1913185   UniProtKB: P263683   

Export aliases for U2AF2 gene to outside databases

Previous GC identifers: GC19P060857 GC19P060858 GC19P052475


(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 U2AF2 Gene:
U2 auxiliary factor (U2AF), comprised of a large and a small subunit, is a non-snRNP protein required for the
binding of U2 snRNP to the pre-mRNA branch site. This gene encodes the U2AF large subunit which contains a
sequence-specific RNA-binding region with 3 RNA recognition motifs and an Arg/Ser-rich domain necessary for
splicing. The large subunit binds to the polypyrimidine tract of introns early during spliceosome assembly.
Multiple transcript variants have been detected for this gene, but the full-length natures of only two have been
determined to date. (provided by RefSeq, Jul 2008)

GeneCards Summary for U2AF2 Gene: 
U2AF2 (U2 small nuclear RNA auxiliary factor 2) is a protein-coding gene. Diseases associated with U2AF2 include myoclonus epilepsy, and progressive myoclonus epilepsy, and among its related super-pathways are mRNA Processing and Post-Elongation Processing of Intron-Containing pre-mRNA. GO annotations related to this gene include RNA binding and enzyme binding. An important paralog of this gene is UHMK1.

UniProtKB/Swiss-Prot: U2AF2_HUMAN, P26368
Function: Necessary for the splicing of pre-mRNA. Induces cardiac troponin-T (TNNT2) pre-mRNA exon inclusion in
muscle. Regulates the TNNT2 exon 5 inclusion through competition with MBNL1. Binds preferentially to a
single-stranded structure within the polypyrimidine tract of TNNT2 intron 4 during spliceosome assembly. Required
for the export of mRNA out of the nucleus, even if the mRNA is encoded by an intron-less gene. Represses the
splicing of MAPT/Tau exon 10

Gene Wiki entry for U2AF2 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_000019.9  NC_018930.2  NT_011109.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the U2AF2 gene promoter:
         Max1   E2F-4   E2F-3a   E2F-5   ATF-2   E2F-2   E2F-1   E2F   c-Jun   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): U2AF2 promoter sequence
   Search SABiosciences Chromatin IP Primers for U2AF2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat U2AF2


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

Entrez Gene cytogenetic band: 19q13.42   Ensembl cytogenetic band:  19q13.42   HGNC cytogenetic band: 19q13.43

U2AF2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
U2AF2 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P056165:  view genomic region     (about GC identifiers)

Start:
56,165,416 bp from pter      End:
56,186,082 bp from pter
Size:
20,667 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: U2AF2_HUMAN, P26368 (See protein sequence)
Recommended Name: Splicing factor U2AF 65 kDa subunit  
Size: 475 amino acids; 53501 Da
Subunit: Interacts with U2AF1L4 (By similarity). Heterodimer with U2AF1. Binds unphosphorylated SF1. Interacts
with SCAF11 and SNW1. Interacts with ZRSR2/U2AF1-RS2
Subcellular location: Nucleus
6/19 PDB 3D structures from and Proteopedia for U2AF2 (see all 19):
1JMT (3D)        1O0P (3D)        1OPI (3D)        1U2F (3D)        2G4B (3D)        2HZC (3D)    
Secondary accessions: Q96HC5
Alternative splicing: 2 isoforms:  P26368-1   P26368-2   

Explore the universe of human proteins at neXtProt for U2AF2: NX_P26368

Explore proteomics data for U2AF2 at MOPED 

Post-translational modifications:

  • UniProtKB: Lysyl-hydroxylation at Lys-15 and Lys-276 affects the mRNA splicing activity of the protein, leading to regulate
    some, but not all, alternative splicing events
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P26368

  • U2AF2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    U2AF2 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001012496.1  NP_009210.1  

    ENSEMBL proteins: 
     ENSP00000388475   ENSP00000307863   ENSP00000470020   ENSP00000466167   ENSP00000466935  
    Reactome Protein details: P26368
    Human Recombinant Protein Products for U2AF2: 
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    Cloud-Clone Corp. Proteins for U2AF2 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----
    GO:0005654nucleoplasm TAS--
    GO:0005681spliceosomal complex IDA9731529

    U2AF2 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    RBM: RNA binding motif (RRM) containing

    3 InterPro protein domains:
     IPR006529 U2AF_lg
     IPR000504 RRM_dom
     IPR012677 Nucleotide-bd_a/b_plait

    Graphical View of Domain Structure for InterPro Entry P26368

    ProtoNet protein and cluster: P26368

    1 Blocks protein domain: IPB000504 RNA-binding region RNP-1 (RNA recognition motif)

    UniProtKB/Swiss-Prot: U2AF2_HUMAN, P26368
    Similarity: Belongs to the splicing factor SR family
    Similarity: Contains 3 RRM (RNA recognition motif) domains


    U2AF2 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: U2AF2_HUMAN, P26368
    Function: Necessary for the splicing of pre-mRNA. Induces cardiac troponin-T (TNNT2) pre-mRNA exon inclusion in
    muscle. Regulates the TNNT2 exon 5 inclusion through competition with MBNL1. Binds preferentially to a
    single-stranded structure within the polypyrimidine tract of TNNT2 intron 4 during spliceosome assembly. Required
    for the export of mRNA out of the nucleus, even if the mRNA is encoded by an intron-less gene. Represses the
    splicing of MAPT/Tau exon 10

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0003676nucleic acid binding ----
    GO:0003723RNA binding IEA--
    GO:0005515protein binding IPI11551507
    GO:0019899enzyme binding IPI19574390
         
    U2AF2 for ontologies           About GeneDecksing


    Phenotypes:
         5 GenomeRNAi human phenotypes for U2AF2:
     Decreased viability  Increased cell number in S  Increased gamma-H2AX phosphory  Increased mitotic index 
     Lamellipodia cells 

    Animal Models:
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    SwitchGear 3'UTR luciferase reporter plasmidU2AF2 3' UTR sequence
    Inhib. RNA
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    (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

    SuperPaths for U2AF2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1mRNA Splicing - Major Pathway
    Processing of Capped Intron-Containing Pre-mRNA0.85
    mRNA Splicing0.82
    mRNA Processing0.85
    mRNA processing0.46
    mRNA Splicing - Major Pathway0.82
    Spliceosome0.31
    2RNA Polymerase II Transcription Termination
    RNA Polymerase II Transcription Termination0.79
    Post-Elongation Processing of the Transcript0.79
    Post-Elongation Processing of Intron-Containing pre-mRNA0.79
    mRNA 3'-end processing0.79
    Cleavage of Growing Transcript in the Termination Region 0.79
    3Transport of Mature Transcript to Cytoplasm
    Transport of Mature Transcript to Cytoplasm0.85
    Transport of Mature mRNA derived from an Intron-Containing Transcript0.85
    4Transcription
    Transcription0.69
    RNA Polymerase II Transcription0.69
    5Generic Transcription Pathway
    Gene Expression0.47

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for U2AF2
        mRNA processing

    5/14        Reactome Pathways for U2AF2 (see all 14)
        Transport of Mature mRNA derived from an Intron-Containing Transcript
    mRNA Splicing - Major Pathway
    Transport of Mature Transcript to Cytoplasm
    mRNA Splicing
    RNA Polymerase II Transcription


    1         Kegg Pathway  (Kegg details for U2AF2):
        Spliceosome


    U2AF2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for U2AF2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/908 Interacting proteins for U2AF2 (P263681, 2, 3 ENSP000003078634) via UniProtKB, MINT, STRING, and/or I2D (see all 908)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SRPK2P783621, 2, 3, ENSP000003772624EBI-742339,EBI-593303 MINT-66255 I2D: score=5 STRING: ENSP00000377262
    DDX39BQ138382, 3MINT-7945693 MINT-7947479 I2D: score=2 
    ENSG00000215425Q138382, 3MINT-7945693 MINT-7947479 I2D: score=2 
    ENSG00000225073Q138382, 3MINT-7945693 MINT-7947479 I2D: score=2 
    ENSG00000225859Q138382, 3MINT-7945693 MINT-7947479 I2D: score=2 
    About this table

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000398mRNA splicing, via spliceosome TAS--
    GO:0006366transcription from RNA polymerase II promoter TAS--
    GO:0006369termination of RNA polymerase II transcription TAS--
    GO:0006397mRNA processing TAS1538748
    GO:0006406mRNA export from nucleus TAS--

    U2AF2 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

    U2AF2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for U2AF2

    7 Novoseek inferred chemical compound relationships for U2AF2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    poly u 56.4 3 17188295 (1), 8990179 (1)
    arginine 29.9 2 18067274 (1), 9237760 (1)
    pyrimidine 21.5 2 16809543 (2)
    serine 7.13 1 18067274 (1)
    adenylate 0.655 2 14576315 (2)
    atp 0 2 1398075 (1), 16376933 (1)
    zinc 0 1 10606272 (1)

    Search CenterWatch for drugs/clinical trials and news about U2AF2

    (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 U2AF2 gene (2 alternative transcripts): 
    NM_001012478.1  NM_007279.2  

    Unigene Cluster for U2AF2:

    U2 small nuclear RNA auxiliary factor 2
    Hs.528007  [show with all ESTs]
    Unigene Representative Sequence: NM_007279
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000450554(uc002qlt.3) ENST00000308924(uc002qlu.3) ENST00000588850
    ENST00000587196 ENST00000592867 ENST00000592874 ENST00000590551 ENST00000587275

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AB451261.1 AB451387.1 AK311672.1 BC008740.2 BC030574.2 X64044.1 

    18 DOTS entries:

    DT.316064  DT.102824787  DT.100787781  DT.121432600  DT.86847492  DT.97858884  DT.100015615  DT.100036921 
    DT.102824788  DT.121432571  DT.121432611  DT.99985196  DT.100036922  DT.121432584  DT.92438055  DT.95071809 
    DT.121432551  DT.95130294 

    24/266 AceView cDNA sequences (see all 266):

    BE466493 BE857957 CR609498 BC008740 AI056452 BC030574 AA640188 AI743821 
    AA620672 BX461321 BF508525 AI127369 BE463917 AW007068 AI762438 BG333194 
    BQ005827 BM720557 BF732390 AI915105 AA404408 AI750096 BE646566 BF063339 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for U2AF2    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b
    SP1:                                                                    -                     
    SP2:                                                                                          


    ECgene alternative splicing isoforms for U2AF2

    (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

    U2AF2 expression in normal human tissues (normalized intensities)      U2AF2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAGGGCCTGA
    U2AF2 Expression
    About this image


    U2AF2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/35 selected tissues (see all 35) fully expand
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Colon (Gastrointestinal Tract)    fully expand to see all 3 entries
             rectum ; glandular cells   

    See U2AF2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for U2AF2

    SOURCE GeneReport for Unigene cluster: Hs.528007
        SABiosciences Custom PCR Arrays for U2AF2
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    In Situ
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    (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 U2AF2 gene from 9/23 species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia U2af21 , 5 U2 small nuclear ribonucleoprotein auxiliary factor more1, 5 91.3(n)1
    100(a)1
      7 (2.93 cM)5
    221851  NM_133671.31  NP_598432.21 
     50621435 
    lizard
    (Anolis carolinensis)
    Reptilia U2AF26
    Uncharacterized protein
    95(a)
    1 ↔ 1
    GL343279.1(695345-714243)
    African clawed frog
    (Xenopus laevis)
    Amphibia u2af2-prov2 splicing factor U2AF large chain 78.6(n)    BC044032.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb73g022 wufb73g02 78.86(n)   322805  CF347908.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta U2af501 U2 small nuclear riboprotein auxiliary factor 50 67.49(n)
    74.26(a)
      32602  NM_057543.4  NP_476891.1 
    worm
    (Caenorhabditis elegans)
    Secernentea uaf-11 Protein UAF-1 56.59(n)
    62.33(a)
      175270  NM_001027796.2  NP_001022967.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes NOP136
    Nucleolar protein found in preribosomal complexes;...
    13(a)
    1 → many
    XIV(307401-308612)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G609001 Splicing factor U2af large subunit B 49.49(n)
    44.81(a)
      842382  NM_104771.3  NP_176287.3 
    rice
    (Oryza sativa)
    Liliopsida Os.273242 Oryza sativa (japonica cultivar-group) isolate 31147 more 71.75(n)    AK073768.1 


    ENSEMBL Gene Tree for U2AF2 (if available)
    TreeFam Gene Tree for U2AF2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for U2AF2 gene
    UHMK12  

    U2AF2 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

    10/580 SNPs in U2AF2 are shown (see all 580)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs37454461,2
    C--52475551(-) CGGGTA/GGTGTC 2 -- us2k14Minor allele frequency- G:0.15CSA WA NA EA 360
    rs1405474871,2
    C--52481513(+) GACTC-/TTGAGG 2 -- int10--------
    rs1448450461,2
    C--52496625(+) GGGGC-/GGG   
       GGTTG
    GGGGG
    2 -- ut310--------
    rs724755041,2
    C--56172866(+) CACAC-/ACA   
       CACAC
    ACACA
    2 -- int10--------
    rs592628121,2
    C--56172901(+) ACACA-/CAC   
       ACACA
    GACGC
    2 -- int11Minor allele frequency- CACACACA:0.00NA 2
    rs415082501,2
    F--56176642(-) GTAGAA/CCTGCC 2 -- int11Minor allele frequency- C:0.20NA 10
    rs563065171,2
    C--56176695(+) CAGTTC/TTACGA 2 -- int10--------
    rs558428241,2
    C--56176714(+) TTGGCA/GCTGTC 2 -- int10--------
    rs1132662491,2
    C--56179252(+) GTTCAC/TGCCAT 2 -- int11Minor allele frequency- T:0.50CSA 2
    rs6032071,2
    C,A,H--56182086(+) GTCTTA/GGAACG 2 -- int10--------

    HapMap Linkage Disequilibrium report for U2AF2 (56165416 - 56186082 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for U2AF2:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2718987CNV Deletion23290073
    esv1128019CNV Insertion17803354
    nsv2553CNV Insertion18451855
    nsv522559CNV Loss19592680
    dgv4025n71CNV Loss21882294
    nsv912504CNV Loss21882294
    nsv912500CNV Loss21882294
    nsv912501CNV Loss21882294
    nsv833882CNV Loss17160897
    nsv828644CNV Gain20364138

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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: 191318    OMIM disorders: --

    8 diseases for U2AF2:    About MalaCards
    myoclonus epilepsy    progressive myoclonus epilepsy    myoclonus    frontotemporal dementia
    dementia    wilms tumor    herpes simplex    breast cancer


    U2AF2 for disorders           About GeneDecksing


    Export disorders for U2AF2 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 U2AF2 gene, integrated from 9 sources (see all 166):
    (articles sorted by number of sources associating them with U2AF2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and domain structure of the mammalian splicing factor U2AF. (PubMed id 1538748)1, 2, 3, 9 Zamore P.D.... Green M.R. (1992)
    2. A protein related to splicing factor U2AF35 that interacts with U2AF65 and SR proteins in splicing of pre-mRNA. (PubMed id 9237760)1, 2, 9 Tronchere H....Fu X.D. (1997)
    3. Jmjd6 catalyses lysyl-hydroxylation of U2AF65, a protein associated with RNA splicing. (PubMed id 19574390)1, 2, 9 Webby C.J....Boettger A. (2009)
    4. A novel peptide recognition mode revealed by the X-ray structure of a core U2AF35/U2AF65 heterodimer. (PubMed id 11551507)1, 2, 9 Kielkopf C.L.... Burley S.K. (2001)
    5. Solution structures of the first and second RNA-binding domains of human U2 small nuclear ribonucleoprotein particle auxiliary factor (U2AF(65)). (PubMed id 10449418)1, 2, 9 Ito T.... Yokoyama S. (1999)
    6. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    7. Tau exon 10, whose missplicing causes frontotemporal dementia, is regulated by an intricate interplay of cis elements and trans factors. (PubMed id 15009664)1, 2 Wang J....Andreadis A. (2004)
    8. Structural basis for the molecular recognition between human splicing factors U2AF65 and SF1/mBBP. (PubMed id 12718882)1, 2 Selenko P.... Sattler M. (2003)
    9. Large-scale proteomic analysis of the human spliceosome. (PubMed id 12176931)1, 2 Rappsilber J.... Mann M. (2002)
    10. Phosphorylation of splicing factor SF1 on Ser20 by cGMP-dependent protein kinase regulates spliceosome assembly. (PubMed id 10449420)1, 2 Wang X....Robinson P.J. (1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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      (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: 11338 HGNC: 23156 AceView: U2AF2 Ensembl:ENSG00000063244 euGenes: HUgn11338
    ECgene: U2AF2 Kegg: 11338 H-InvDB: U2AF2

    (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 U2AF2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for U2AF2 gene:
    Search GeneIP for patents involving U2AF2

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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