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

UPF2 Gene

protein-coding   GIFtS: 56
GCID: GC10M011962

UPF2 regulator of nonsense transcripts homolog (yeast)
 Explore 4 diseases affiliated with
UPF2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for UPF2    

Aliases
for UPF2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
UPF2 Regulator Of Nonsense Transcripts Homolog (Yeast)1 2     DKFZP434D2221
RENT21 2 3 5     HUPF22
Smg-31     Regulator Of Nonsense Transcripts 22
KIAA14081 3     Smg-3 Homolog, Nonsense Mediated MRNA Decay Factor2
Nonsense MRNA Reducing Factor 22 3     Yeast Upf2p Homolog2
Up-Frameshift Suppressor 2 Homolog2 3     HUpf21

External Ids:    HGNC: 178541   Entrez Gene: 260192   Ensembl: ENSG000001514617   OMIM: 6055295   UniProtKB: Q9HAU53   

Export aliases for UPF2 gene to outside databases

Previous GC identifers: GC10M011925 GC10M012112 GC10M011966 GC10M012002 GC10M011879


Summaries
for UPF2 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 UPF2:
This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export
and mRNA surveillance. mRNA surveillance detects exported mRNAs with truncated open reading frames and initiates
nonsense-mediated mRNA decay (NMD). When translation ends upstream from the last exon-exon junction, this triggers NMD
to degrade mRNAs containing premature stop codons. This protein is located in the perinuclear area. It interacts with
translation release factors and the proteins that are functional homologs of yeast Upf1p and Upf3p. Two splice
variants have been found for this gene; both variants encode the same protein. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: RENT2_HUMAN, Q9HAU5
Function: Involved in nonsense-mediated decay (NMD) of mRNAs containing premature stop codons by associating with the
nuclear exon junction complex (EJC). Recruited by UPF3B associated with the EJC core at the cytoplasmic side of the
nuclear envelope and the subsequent formation of an UPF1-UPF2-UPF3 surveillance complex (including UPF1 bound to
release factors at the stalled ribosome) is believed to activate NMD. In cooperation with UPF3B stimulates both ATPase
and RNA helicase activities of UPF1. Binds spliced mRNA

Gene Wiki entry for UPF2


Genomic Views
for UPF2 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_000010.10  NC_018921.1  NT_008705.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the UPF2 gene promoter:
         MZF-1   POU2F1   Pax-5   Egr-1   POU2F1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: UPF2 promoter sequence
   Search SABiosciences Chromatin IP Primers for UPF2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat UPF2


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

Entrez Gene cytogenetic band: 10p14-p13   Ensembl cytogenetic band:  10p14   HGNC cytogenetic band: 10p14-p13

UPF2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
UPF2 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M011962:  view genomic region     (about GC identifiers)

Start:
 11,962,021 bp from pter      End:
 12,085,169 bp from pter
Size:
 123,149 bases      Orientation:
 minus strand

Proteins
for UPF2 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: RENT2_HUMAN, Q9HAU5 (See protein sequence)
Recommended Name: Regulator of nonsense transcripts 2  
Size: 1272 amino acids; 147810 Da
Subunit: Found in a post-splicing messenger ribonucleoprotein (mRNP) complex. Associates with the exon junction complex
(EJC). Interacts with SMG1, EST1A, UPF1, UPF3A, UPF3B, EIF4A1 and EIF1
Subcellular location: Cytoplasm, perinuclear region
Sequence caution: Sequence=BAA92646.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
2 PDB 3D structures from and Proteopedia for UPF2:
1UW4 (3D)        2WJV (3D)    
Secondary accessions: A6NLJ5 D3DRS0 Q14BM1 Q5W0J4 Q8N8U1 Q9H1J2 Q9NWL1 Q9P2D9 Q9Y4M9
Alternative splicing: 2 isoforms:  Q9HAU5-1   Q9HAU5-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for UPF2: NX_Q9HAU5

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9HAU5

    • UPF2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_056357.1  NP_542166.1  

    ENSEMBL proteins: 
     ENSP00000348708   ENSP00000350221   ENSP00000368470   ENSP00000380244  
    Reactome Protein details: Q9HAU5
    Human Recombinant Protein Products: 
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    Uscn Proteins for UPF2

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA14636577
    GO:0005737cytoplasm IDA14636577
    GO:0005829cytosol TAS--
    GO:0035145exon-exon junction complex IDA16601204
    GO:0048471perinuclear region of cytoplasm IEA--


    UPF2 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for UPF2

    Protein Domains /
    Families
    for UPF2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    UPF2 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR003890 MIF4G-like_typ-3
     IPR016021 MIF4-like_typ_1/2/3
     IPR007193 Up-fram_suppressor-2
     IPR016024 ARM-type_fold

    Graphical View of Domain Structure for InterPro Entry Q9HAU5

    ProtoNet protein and cluster: Q9HAU5

    1 Blocks protein family: IPB003890 Initiation factor eIF-4 gamma

    UniProtKB/Swiss-Prot: RENT2_HUMAN, Q9HAU5
    Similarity: Contains 3 MIF4G domains


    Function
    for UPF2 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: RENT2_HUMAN, Q9HAU5
    Function: Involved in nonsense-mediated decay (NMD) of mRNAs containing premature stop codons by associating with the
    nuclear exon junction complex (EJC). Recruited by UPF3B associated with the EJC core at the cytoplasmic side of the
    nuclear envelope and the subsequent formation of an UPF1-UPF2-UPF3 surveillance complex (including UPF1 bound to
    release factors at the stalled ribosome) is believed to activate NMD. In cooperation with UPF3B stimulates both ATPase
    and RNA helicase activities of UPF1. Binds spliced mRNA

    miRNA
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    hsa-miR-485-5p hsa-miR-576-3p hsa-miR-1287 hsa-miR-4254 hsa-miR-4299 hsa-miR-103a hsa-miR-1273d hsa-miR-320e
    SwitchGear 3'UTR luciferase reporter plasmid: UPF2 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    Cell Line
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    In Situ Assay
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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0003723RNA binding IEA--
    GO:0005515protein binding IPI--


    UPF2 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for UPF2:
     High actin ratio cells 

    Animal Models:
         Mouse knock-out Upf2tm1.1Btp for UPF2
         4 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Upf2):
     cellular  hematopoietic system  immune system  mortality/aging 

    UPF2 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for UPF2 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

    Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Synthesis of PB1-F2
    		SMG6 Cleaves mRNA with Premature Termination Codon0.80
    		Nonsense-Mediated Decay0.77
    		Phosphorylated UPF1 Recruits SMG5, SMG7, SMG6, and PP2A0.77
    		Nonsense Mediated Decay Enhanced by the Exon Junction Complex0.77
    2Metabolism of mRNA
    		Metabolism of mRNA1.00
    		Metabolism of RNA0.92
    3mRNA surveillance pathway
    		mRNA surveillance pathway1.00
    4RNA transport
    		RNA transport1.00
    5Translational Control
    		Translational Control1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for UPF2
        Translational Control

    5/7        Reactome Pathways for UPF2 (see all 7)
        Nonsense-Mediated Decay
    Nonsense Mediated Decay Enhanced by the Exon Junction Complex
    Phosphorylated UPF1 Recruits SMG5, SMG7, SMG6, and PP2A
    Metabolism of RNA
    Metabolism of mRNA


    2         Kegg Pathways  (Kegg details for UPF2):
        RNA transport
    mRNA surveillance pathway


    UPF2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for UPF2

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

    5/858 Interacting proteins for UPF2 (Q9HAU51, 2, 3 ENSP000003487084) via UniProtKB, MINT, STRING, and/or I2D (see all 858)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UPF1Q929001, 2, 3, ENSP000002628034EBI-372073,EBI-373471 MINT-6539840 MINT-7904432 MINT-6539908 MINT-7904445 MINT-7945693 MINT-7904564 MINT-4791496 MINT-7904530 MINT-6539883 MINT-7904547 MINT-7904417 MINT-7904495 MINT-7904598 MINT-7947479 MINT-6539859 MINT-7904478 MINT-7904581 MINT-7904403 MINT-7904512 MINT-7904458 I2D: score=9 STRING: ENSP00000262803
    UPF3BQ9BZI71, 2, 3, ENSP000002762014EBI-372073,EBI-372780 MINT-51076 I2D: score=6 STRING: ENSP00000276201
    SMG1Q96Q151, 2, 3, ENSP000004025154EBI-372073,EBI-1049832 MINT-6539908 I2D: score=3 STRING: ENSP00000402515
    XRN2Q9H0D62, 3, ENSP000003663964MINT-7945693 MINT-7947479 I2D: score=4 STRING: ENSP00000366396
    INTS6Q9UL032, 3, ENSP000003102604MINT-4791485 MINT-7947479 I2D: score=1 STRING: ENSP00000310260
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000184nuclear-transcribed mRNA catabolic process, nonsense-mediated decay TAS--
    GO:0001889liver development IEA--
    GO:0006406mRNA export from nucleus TAS16488880
    GO:0010467gene expression TAS--
    GO:0016070RNA metabolic process TAS--


    UPF2 for ontologies           About GeneDecksing



    Drugs & Compounds
    for UPF2 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

    UPF2 for compounds           About GeneDecksing

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

    Browse Tocris compounds for UPF2
    4 Novoseek chemical compound relationships for UPF2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    nitrobenzylthioinosine 79.1 2 9353301 (1), 11139404 (1)
    uridine 56 5 11139404 (3), 9353301 (1)
    nucleoside 52.2 5 17473446 (2), 9353301 (1), 11463208 (1), 11139404 (1)
    purine 32 1 17473446 (1)

    Search CenterWatch for drugs/clinical trials and news about UPF2 / RENT2 

    Transcripts
    for UPF2 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 UPF2 gene (2 alternative transcripts): 
    NM_015542.3  NM_080599.2  

    Unigene Clusters for UPF2:

    UPF2 regulator of nonsense transcripts homolog (yeast)
    Hs.370689  [show with all ESTs], Hs.732383  [show with all ESTs]
    Unigene Representative Sequences: AB037829, AL599503
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000356352(uc001ila.3) ENST00000357604(uc001ilb.3 uc009xiz.2)
    ENST00000379172 ENST00000460569 ENST00000397053(uc001ilc.3)

    miRNA
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    hsa-miR-485-5p hsa-miR-576-3p hsa-miR-1287 hsa-miR-4254 hsa-miR-4299 hsa-miR-103a hsa-miR-1273d hsa-miR-320e
    SwitchGear 3'UTR luciferase reporter plasmid: UPF2 3' UTR sequence
    Inhib. RNA
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    Clone
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    Additional cDNA sequence: BC090919.1 

    7 DOTS entries:

    DT.213018  DT.40106488  DT.97804808  DT.100783355  DT.100783357  DT.95374332  DT.92433417 

    24/148 AceView cDNA sequences (see all 148):

    BG201896 AA256995 AA812010 AI335692 T56874 BQ669447 AB037829 AA228097 
    AA309180 NM_080599 BM677932 BQ674836 BU850197 CA448412 AA356414 BM979768 
    BQ668797 BU195552 BX105359 AL080198 BM702779 BX283701 AY013249 NM_015542 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for UPF2    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^
    SP1:                                                                                                                                                            
    SP2:                    -                                               -     -     -     -     -     -     -     -     -     -     -     -     -     -     -   
    SP3:        -                                                                                                                                                   

    ExUns: 25
    SP1:      
    SP2:      
    SP3:      


    ECgene alternative splicing isoforms for UPF2

    Expression
    for UPF2 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

    UPF2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GAAATGCTGC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See UPF2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for UPF2

    SOURCE GeneReport for Unigene clusters: Hs.370689 Hs.732383

    UniProtKB/Swiss-Prot: RENT2_HUMAN, Q9HAU5
    Tissue specificity: Ubiquitous

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    In Situ
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    Orthologs
    for UPF2 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 UPF2 gene from 10/33 species (see all 33)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Upf21 , 5 UPF2 regulator of nonsense transcripts homolog (yeast)1, 5 91.7(n)1
    97.16(a)1    		   2 (3.62 cM)5
    3266221  NM_001081132.11  NP_001074601.11 
     59514695 
    chicken
    (Gallus gallus)    		 Aves UPF21 UPF2 regulator of nonsense transcripts homolog (yeast) 85.05(n)
    93.38(a)    		   419100  XM_417288.3  XP_417288.3 
    lizard
    (Anolis carolinensis)    		 Reptilia UPF26
    		 --
    		 92(a)
    		 1 ↔ 1
    		 GL343349.1(629528-664262)
    African clawed frog
    (Xenopus laevis)    		 Amphibia Xl.149372 Xenopus laevis transcribed sequence with strong similarity more 83.2(n)    BJ061948.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii upf21 UPF2 regulator of nonsense transcripts homolog (yeast) 70.04(n)
    80(a)    		   569006  XM_692368.5  XP_697460.5 
    fruit fly
    (Drosophila melanogaster)    		 Insecta Upf21 CG2253-PA 47.05(n)
    39.82(a)    		   31724  NM_132206.2  NP_572434.1 
    worm
    (Caenorhabditis elegans)    		 Secernentea smg-36
    		 Suppressor with Morphological effect on Genitalia ...
    		 26(a)
    		 1 ↔ 1
    		 IV(6362384-6373076)
    baker's yeast
    (Saccharomyces cerevisiae)    		 Saccharomycetes NMD2(YHR077C)4
    NMD21    		 Protein involved in the nonsense-mediated mRNA decay more4
    Nmd2p1    		 45.13(n)1
    26.76(a)1    		   8(255756-252374)4
    8564761, 4  NP_011944.21, 4 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT2G392601 RNA binding protein 49.78(n)
    39.91(a)    		   818511  NM_129484.4  NP_181459.4 
    rice
    (Oryza sativa)    		 Liliopsida --
    --
    		 MIF4G domain containing protein, putative
    		 34(a)
    28(a)
    		 many → 1
    many → 1
    		 2(25267175-25278192)
    4(25994323-25999102)


    ENSEMBL Gene Tree for UPF2 (if available)
    TreeFam Gene Tree for UPF2 (if available) 

    Paralogs
    for UPF2 gene

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

    Genomic Variants
    for UPF2 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

    10/2400 NCBI SNPs in UPF2 are shown (see all 2400)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 10 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs2005063881,2
    		--11961627(+) TTTTG-/TTTTTT 2 -- ds50010--------
    rs1402731621,2
    		--11961645(+) CGGAGG/TCTGGC 2 -- ds50010--------
    rs127803921,2
    		C,--11961678(+) AGTGGT/CGCGAT 2 -- ds50015Minor allele frequency- C:0.10NA 10
    rs1905721651,2
    		--11961779(+) CGCCCA/GGCTAA 2 -- ds50010--------
    rs1817303981,2
    		--11961798(+) ATTTTC/TAGTAC 2 -- ds50010--------
    rs1864338211,2
    		--11961800(+) TTTTAG/TTACAG 2 -- ds50010--------
    rs1910510341,2
    		--11961809(+) AGATGC/GTGTTT 2 -- ds50010--------
    rs1824009141,2
    		--11961830(+) GCCAGA/GATGGT 2 -- ds50010--------
    rs1879357121,2
    		--11961832(+) CAGGAC/TGGTCT 2 -- ds50010--------
    rs47479531,2
    		C,H,--11961844(+) GATCTC/TCTGAC 2 -- ds500110Minor allele frequency- T:0.00NA WA CSA 17

    HapMap Linkage Disequilibrium report for UPF2 (11962021 - 12085169 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for UPF2: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing UPF2
    DNA2.0 Custom Variant and Variant Library Synthesis for UPF2

    Disorders / Diseases
    for UPF2 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    UPF2 for disorders           About GeneDecksing

    OMIM gene information: 605529    OMIM disorders: --

    4 diseases for UPF2:    About MalaCards
    diarrhea    cholera    alzheimer's disease    colorectal cancer

    Human Genome Epidemiology (HuGE) Navigator: UPF2 (2 documents)

    Export disorders for UPF2 gene to outside databases

    Publications
    for UPF2 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 UPF2 gene, integrated from 9 sources (see all 65):
    (articles sorted by number of sources associating them with UPF2)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and characterization of human orthologues to Saccharomyces cerevisiae Upf2 protein and Upf3 protein (Caenorhabditis elegans SMG-4). (PubMed id 11113196)1, 2, 3, 9 Serin G....Maquat L.E. (2001)
    2. Novel Upf2p orthologues suggest a functional link between translation initiation and nonsense surveillance complexes. (PubMed id 11073994)1, 2, 3 Mendell J.T.... Dietz H.C. (2000)
    3. NMD factors UPF2 and UPF3 bridge UPF1 to the exon junction complex and stimulate its RNA helicase activity. (PubMed id 18066079)1, 2, 9 Chamieh H....Le Hir H. (2008)
    4. The structural basis for the interaction between nonsense-mediated mRNA decay factors UPF2 and UPF3. (PubMed id 15004547)1, 2, 9 Kadlec J.... Cusack S. (2004)
    5. Characterization of human Smg5/7a: a protein with similarities to Caenorhabditis elegans SMG5 and SMG7 that functions in the dephosphorylation of Upf1. (PubMed id 12554878)1, 2, 9 Chiu S.-Y.... Maquat L.E. (2003)
    6. Exon-junction complex components specify distinct routes of nonsense- mediated mRNA decay with differential cofactor requirements. (PubMed id 16209946)1, 2, 9 Gehring N.H.... Kulozik A.E. (2005)
    7. Human Upf proteins target an mRNA for nonsense-mediated decay when bound downstream of a termination codon. (PubMed id 11163187)1, 2, 9 Lykke-Andersen J....Steitz J.A. (2000)
    8. Unusual bipartite mode of interaction between the non sense-mediated decay factors, UPF1 and UPF2. (PubMed id 19556969)1, 2 Clerici M....Cusack S. (2009)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    10. 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. (2004)

    External Searches for UPF2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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    Genome Databases showing UPF2 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 26019 HGNC: 17854 AceView: UPF2 Ensembl:ENSG00000151461 euGenes: HUgn26019
    ECgene: UPF2 Kegg: 26019 H-InvDB: UPF2

    Other Databases showing UPF2 gene

    (According to HUGE)
    About This Section
    HUGE: KIAA1408

    Specialized Databases showing UPF2 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 UPF2 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for UPF2 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for UPF2 gene:
    Search GeneIP for patents involving UPF2

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



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