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ZRSR2 Gene

protein-coding   GIFtS: 47
GCID: GC0XP015808

Zinc Finger (CCCH Type), RNA-Binding Motif And Serine/Arginine...

(Previous names: U2(RNU2) small nuclear RNA auxiliary factor 1-like 2, U2...)
(Previous symbol: U2AF1L2)
  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
Zinc Finger (CCCH Type), RNA-Binding Motif And Serine/Arginine Rich
21 2
     URP2 3
U2AF1L21 2 3     U2AF35-Related Protein2 3
U2(RNU2) Small Nuclear RNA Auxiliary Factor 1-Like 21 2 3     U2 Small Nuclear RNA Auxiliary Factor 1-Like 21
U2AF1RS22 3 5     U2 Small Nuclear Ribonucleoprotein Auxiliary Factor 35 KDa Subunit-Related
Protein 22
Renal Carcinoma Antigen NY-REN-202 3     U2 Small Nuclear Ribonucleoprotein Auxiliary Factor, Small Subunit 22
U2AF1-RS22 3     CCCH Type Zinc Finger, RNA-Binding Motif And Serine/Arginine Rich Protein
23

External Ids:    HGNC: 230191   Entrez Gene: 82332   Ensembl: ENSG000001692497   OMIM: 3000285   UniProtKB: Q156963   

Export aliases for ZRSR2 gene to outside databases

Previous GC identifers: GC0XP015719 GC0XP015720 GC0XP013562


(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 ZRSR2 Gene:
This gene encodes an essential splicing factor. The encoded protein associates with the U2 auxiliary factor
heterodimer, which is required for the recognition of a functional 3' splice site in pre-mRNA splicing, and may
play a role in network interactions during spliceosome assembly. (provided by RefSeq, Jul 2008)

GeneCards Summary for ZRSR2 Gene:
ZRSR2 (zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2) is a protein-coding gene. Diseases associated with ZRSR2 include myelodysplastic syndromes, and renal cell carcinoma. GO annotations related to this gene include pre-mRNA 3'-splice site binding and nucleotide binding. An important paralog of this gene is ENSG00000267120.

UniProtKB/Swiss-Prot: U2AFM_HUMAN, Q15696
Function: Pre-mRNA-binding protein required for splicing of both U2- and U12-type introns. Selectively interacts
with the 3'-splice site of U2- and U12-type pre-mRNAs and promotes different steps in U2 and U12 intron splicing.
Recruited to U12 pre-mRNAs in an ATP-dependent manner and is required for assembly of the prespliceosome, a
precursor to other spliceosomal complexes. For U2-type introns, it is selectively and specifically required for
the second step of splicing

Gene Wiki entry for ZRSR2 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  NT_167197.2  NC_018934.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ZRSR2 gene promoter:
         Pbx1a   Pax-2   Pax-2a   S8   POU2F1   POU2F1a   HFH-1   Cart-1   RSRFC4   En-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidZRSR2 promoter sequence
   Search Chromatin IP Primers for ZRSR2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ZRSR2


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

Entrez Gene cytogenetic band: Xp22.1   Ensembl cytogenetic band:  Xp22.2   HGNC cytogenetic band: Xp22.1

ZRSR2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ZRSR2 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP015808:  view genomic region     (about GC identifiers)

Start:
15,808,574 bp from pter      End:
15,841,383 bp from pter
Size:
32,810 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: U2AFM_HUMAN, Q15696 (See protein sequence)
Recommended Name: U2 small nuclear ribonucleoprotein auxiliary factor 35 kDa subunit-related protein 2  
Size: 482 amino acids; 58045 Da
Subunit: Component of the U11/U12 snRNPs that are part of the U12-type spliceosome. Interacts (via RS domain) with
SRSF1 and SRSF2. Interacts with U2AF2/U2AF65
Secondary accessions: Q14D69

Explore the universe of human proteins at neXtProt for ZRSR2: NX_Q15696

Explore proteomics data for ZRSR2 at MOPED

Post-translational modifications: 

  • Phosphorylated in the RS domain by SRPK11
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ZRSR2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_005080.1  
    ENSEMBL proteins: 
     ENSP00000369664   ENSP00000303015  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ZC3H: Zinc fingers, CCCH-type domain containing
    RBM: RNA binding motif (RRM) containing

    4 InterPro protein domains:
     IPR000571 Znf_CCCH
     IPR012677 Nucleotide-bd_a/b_plait
     IPR000504 RRM_dom
     IPR009145 U2_small

    Graphical View of Domain Structure for InterPro Entry Q15696

    ProtoNet protein and cluster: Q15696

    3 Blocks protein domains:
    IPB000504 RNA-binding region RNP-1 (RNA recognition motif)
    IPB000571 Zn-finger
    IPB009145 U2 auxiliary factor small subunit signature


    UniProtKB/Swiss-Prot: U2AFM_HUMAN, Q15696
    Similarity: Contains 2 C3H1-type zinc fingers
    Similarity: Contains 1 RRM (RNA recognition motif) domain


    ZRSR2 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: U2AFM_HUMAN, Q15696
    Function: Pre-mRNA-binding protein required for splicing of both U2- and U12-type introns. Selectively interacts
    with the 3'-splice site of U2- and U12-type pre-mRNAs and promotes different steps in U2 and U12 intron splicing.
    Recruited to U12 pre-mRNAs in an ATP-dependent manner and is required for assembly of the prespliceosome, a
    precursor to other spliceosomal complexes. For U2-type introns, it is selectively and specifically required for
    the second step of splicing

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0003676nucleic acid binding ----
    GO:0005515protein binding IPI9237760
    GO:0030628pre-mRNA 3'-splice site binding IDA--
    GO:0046872metal ion binding IEA--
         
    ZRSR2 for ontologies           About GeneDecksing


    Animal Models:
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    (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
    U2AFM_HUMAN, Q15696: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005689U12-type spliceosomal complex IDA15146077

    ZRSR2 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 ZRSR2
    Interactions:

        Search GeneGlobe Interaction Network for ZRSR2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    Selected Interacting proteins for ZRSR2 (Q156963 ENSP000003030154) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SRSF1Q079553, ENSP000002589624I2D: score=2 STRING: ENSP00000258962
    SRSF2Q011303, ENSP000003508774I2D: score=2 STRING: ENSP00000350877
    U2AF1Q010813, ENSP000002915524I2D: score=2 STRING: ENSP00000291552
    U2AF2P263683, ENSP000003078634I2D: score=2 STRING: ENSP00000307863
    CWC25ENSP000002254284STRING: ENSP00000225428
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000245spliceosomal complex assembly IMP--
    GO:0000398mRNA splicing, via spliceosome IMP9237760
    GO:0008380RNA splicing IC15146077

    ZRSR2 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
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    Browse Tocris compounds for ZRSR2 (U2AFM)



    (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 ZRSR2 gene: 
    NM_005089.3  

    Unigene Cluster for ZRSR2:

    Zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2
    Hs.171909  [show with all ESTs]
    Unigene Representative Sequence: AK309673
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000380308 ENST00000307771(uc004cxg.4) ENST00000468028
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    Additional mRNA sequence: 

    AK309673.1 BC050451.1 BC065719.1 BC113454.1 BC113480.1 D49677.1 

    8 DOTS entries:

    DT.445527  DT.310078  DT.75168549  DT.40205815  DT.121298648  DT.121298649  DT.75114871  DT.91757898 

    Selected AceView cDNA sequences (see all 42):

    AK090845 BQ962839 T67521 BM699163 BC050451 BG985951 NM_005089 BU686668 
    D49677 AA814970 BF223374 BE164570 BU682194 AA845804 BE673508 BM669824 
    BG754533 AW237119 CD000949 AW194326 BF238191 BC065719 BQ004958 N80309 

    GeneLoc Exon Structure


    (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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    ZRSR2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    ZRSR2 Expression
    About this image

    ZRSR2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ZRSR2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.171909

    UniProtKB/Swiss-Prot: U2AFM_HUMAN, Q15696
    Tissue specificity: Widely expressed

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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)
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    This gene was present in the common ancestor of animals.

    Orthologs for ZRSR2 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Zrsr21 , 5 zinc finger (CCCH type), RNA binding motif and serine/arginine more1, 5 82.57(n)1
    81.53(a)1
      X (75.99 cM)5
    221841  NM_009453.31  NP_033479.21 
     1639354435 
    chicken
    (Gallus gallus)
    Aves ZRSR21 zinc finger (CCCH type), RNA-binding motif and serine/arginine more 72.65(n)
    75(a)
      428002  XM_004934707.1  XP_004934764.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    69(a)
    1 → many
    3(121600569-121620123)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.195562 Xenopus laevis transcribed sequence with moderate similarity more 77.22(n)    CF286502.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zrsr21 zinc finger (CCCH type), RNA-binding motif and serine/arginine more 64.01(n)
    61.94(a)
      100005490  XM_001920527.3  XP_001920562.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG32946
    --
    28(a)
    1 → many
    2L(4794549-4796581)


    ENSEMBL Gene Tree for ZRSR2 (if available)
    TreeFam Gene Tree for ZRSR2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ZRSR2 gene
    ENSG000002671202  U2AF12  ZRSR12  U2AF1L42  
    Selected SIMAP similar genes for ZRSR2 using alignment to 3 protein entries:     U2AFM_HUMAN (see all proteins) (see all similar genes):
    ETFA    ZRSR1    X-linked retinopathy protein    COQ5    CATSPERD    DUSP11
    KIAA1651    SH2B3    TUBA1C    HC6    DKFZp313J1712    SNRPF
    TM4SF19    DCAF17    C4BPB    pp12301    TMEM145    CCDC122

    ZRSR2 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 ZRSR2 (see all 448)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1434187341,2
    --15723039(+) CTTTCA/GGCGCC 1 -- us2k10--------
    rs1846258291,2
    --15723077(+) GCATTC/TCCACC 1 -- us2k10--------
    rs59342781,2
    C--15723090(+) TCTCCG/TTCTGG 1 -- us2k1 tfbs3 trp38Minor allele frequency- T:0.00WA NA CSA 12
    rs1895043291,2
    --15723132(+) TTAGCA/TTCAGA 1 -- us2k10--------
    rs1435567581,2
    --15723652(+) GAGTAC/TTTTTG 1 -- us2k10--------
    rs1920492441,2
    --15723785(+) GTCTCA/GACTCT 1 -- us2k10--------
    rs2019065171,2
    --15723894(+) GCCGTA/GCGGGG 1 -- int10--------
    rs1852070871,2
    --15724009(+) TTCCTC/GGTGCG 1 -- int10--------
    rs48309941,2
    C,F,H--15724018(+) CGCGCC/TCTGGT 1 -- int116Minor allele frequency- T:0.01NS EA WA NA CSA 894
    rs1896652481,2
    --15724036(+) CCGGAC/TTTGCA 1 -- int10--------

    HapMap Linkage Disequilibrium report for ZRSR2 (15808574 - 15841383 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for ZRSR2: --
    Locus Specific Mutation Databases (LSDB): ZRSR2

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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.)
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    OMIM gene information: 300028    OMIM disorders: --

    4 diseases for ZRSR2:    About MalaCards
    myelodysplastic syndromes    renal cell carcinoma    malaria    alzheimer's disease


    ZRSR2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): ZRSR2
    Human Genome Epidemiology (HuGE) Navigator: ZRSR2 (1 document)

    Export disorders for ZRSR2 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 ZRSR2 gene, integrated from 10 sources (see all 19):
    (articles sorted by number of sources associating them with ZRSR2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The human 18S U11/U12 snRNP contains a set of novel proteins not found in the U2-dependent spliceosome. (PubMed id 15146077)1, 2, 3 Will C.L.... Luehrmann R. (RNA 2004)
    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, 3 Tronchere H.... Fu X.D. (Nature 1997)
    3. Isolation and mapping of human homologues of an imprinted mouse gene U2af1-rs1. (PubMed id 8586425)1, 2, 3 Kitagawa K.... Mukai T. (Genomics 1995)
    4. The U2AF35-related protein Urp contacts the 3' splice site to promote U12-type intron splicing and the second step of U2-type intron splicing. (PubMed id 21041408)1, 2 Shen H.... Green M.R. (Genes Dev. 2010)
    5. Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease. (PubMed id 19204726)1, 4 Chapuis J....Lambert J.C. (Mol. Psychiatry 2009)
    6. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. Antigens recognized by autologous antibody in patients with renal- cell carcinoma. (PubMed id 10508479)1, 2 Scanlan M.J....Old L.J. (Int. J. Cancer 1999)
    9. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    10. The protein interaction landscape of the human CMGC kinase group. (PubMed id 23602568)1 Varjosalo M....Gstaiger M. (Cell Rep 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 8233 HGNC: 23019 AceView: U2AF1L2 Ensembl:ENSG00000169249 euGenes: HUgn8233
    ECgene: ZRSR2 H-InvDB: ZRSR2

    (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 ZRSR2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
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    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ZRSR2 gene:
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    GeneCards and IP:
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