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NUP214 Gene

protein-coding   GIFtS: 66
GCID: GC09P134000

Nucleoporin 214kDa

(Previous name: nucleoporin 214kD (CAIN))
Microbiology & Infectious Diseases Congress
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(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
Nucleoporin 214kDa1 2     N2142
CAIN2 3 5     CAN Protein, Putative Oncogene2
CAN2 3 5     p2502
Nuclear Pore Complex Protein Nup2141 2     214 KDa Nucleoporin3
D9S46E2 5     KIAA00233
CAN Protein1     Nucleoporin Nup2143
Nucleoporin 214kD (CAIN)1     Protein CAN3
Putative Oncogene1     

External Ids:    HGNC: 80641   Entrez Gene: 80212   Ensembl: ENSG000001268837   OMIM: 1143505   UniProtKB: P356583   

Export aliases for NUP214 gene to outside databases

Previous GC identifers: GC09P125015 GC09P125547 GC09P127354 GC09P129277 GC09P131031 GC09P132990 GC09P103491


(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 NUP214 Gene:
The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that
regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins are the main components
of the nuclear pore complex in eukaryotic cells. This gene is a member of the FG-repeat-containing nucleoporins.
The protein encoded by this gene is localized to the cytoplasmic face of the nuclear pore complex where it is
required for proper cell cycle progression and nucleocytoplasmic transport. The 3' portion of this gene forms a
fusion gene with the DEK gene on chromosome 6 in a t(6,9) translocation associated with acute myeloid leukemia
and myelodysplastic syndrome. (provided by RefSeq, Jul 2008)

GeneCards Summary for NUP214 Gene:
NUP214 (nucleoporin 214kDa) is a protein-coding gene. Diseases associated with NUP214 include acute t cell leukemia, and acute myeloid leukemia. GO annotations related to this gene include nucleocytoplasmic transporter activity and transporter activity.

UniProtKB/Swiss-Prot: NU214_HUMAN, P35658
Function: May serve as a docking site in the receptor-mediated import of substrates across the nuclear pore
complex

Gene Wiki entry for NUP214 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_000009.12  NT_008470.20  NC_018920.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the NUP214 gene promoter:
         AML1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNUP214 promoter sequence
   Search Chromatin IP Primers for NUP214

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NUP214


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

Entrez Gene cytogenetic band: 9q34.1   Ensembl cytogenetic band:  9q34.13   HGNC cytogenetic band: 9q34

NUP214 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NUP214 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P134000:  view genomic region     (about GC identifiers)

Start:
134,000,948 bp from pter      End:
134,110,057 bp from pter
Size:
109,110 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: NU214_HUMAN, P35658 (See protein sequence)
Recommended Name: Nuclear pore complex protein Nup214  
Size: 2090 amino acids; 213620 Da
Subunit: Homodimer. Interacts with DDX19, NUP88, XPO1 and XPO5. Interacts with human herpes virus 1 (HHV-1)
protein UL25; this interaction might be essential to the capsid docking onto the host nuclear pore
Sequence caution: Sequence=BAD07398.1; Type=Erroneous initiation;
4 PDB 3D structures from and Proteopedia for NUP214:
2OIT (3D)        3FHC (3D)        3FMO (3D)        3FMP (3D)    
Secondary accessions: A6NFQ0 Q15010 Q3KQZ0 Q5JUP7 Q75R47 Q86XD3
Alternative splicing: 5 isoforms:  P35658-1   P35658-2   P35658-3   P35658-4   P35658-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for NUP214: NX_P35658

Explore proteomics data for NUP214 at MOPED

Post-translational modifications: 

  • Probably glycosylated as it reacts with wheat germ agglutinin (WGA)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See NUP214 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_005076.3  
    ENSEMBL proteins: 
     ENSP00000352400   ENSP00000396576   ENSP00000435874   ENSP00000434223   ENSP00000437139  
     ENSP00000416934   ENSP00000436793   ENSP00000435364   ENSP00000435583   ENSP00000433606  
     ENSP00000433654   ENSP00000405014  
    Reactome Protein details: P35658

    NUP214 Human Recombinant Protein Products:

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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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    3 InterPro protein domains:
     IPR026054 Nucleoporin
     IPR001680 WD40_repeat
     IPR015943 WD40/YVTN_repeat-like_dom

    Graphical View of Domain Structure for InterPro Entry P35658

    ProtoNet protein and cluster: P35658

    UniProtKB/Swiss-Prot: NU214_HUMAN, P35658
    Domain: Contains FG repeats
    Domain: The beta-propeller contains long interblade connector loops, and mediates interaction with DDX19B


    NUP214 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: NU214_HUMAN, P35658
    Function: May serve as a docking site in the receptor-mediated import of substrates across the nuclear pore
    complex

         Genatlas biochemistry entry for NUP214:
    nucleoporin,involved in nucleocytoplasmic transport processes and cell cycle progression

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005215transporter activity TAS8108440
    GO:0005487nucleocytoplasmic transporter activity IEA--
    GO:0005515protein binding IPI11545741
         
    NUP214 for ontologies           About GeneDecksing


    Phenotypes:
         6 GenomeRNAi human phenotypes for NUP214:
     Decreased TP53 protein express  Decreased viability of wild-ty  Nuclear 40S maturation defects  Nuclear 60S biogenesis defects 
     Nucleoplasmic pre-40S maturati  Synthetic lethal with Ras 

         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Nup214):
     cellular  embryogenesis  mortality/aging 

    NUP214 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NUP214
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    miRNA
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    miRTarBase miRNAs that target NUP214:
    hsa-let-7b-5p (MIRT032370), hsa-mir-328-3p (MIRT043751), hsa-mir-22-3p (MIRT050464), hsa-mir-15b-5p (MIRT046465), hsa-mir-193b-3p (MIRT041295), hsa-mir-331-3p (MIRT043374), hsa-mir-20a-5p (MIRT050542), hsa-mir-149-5p (MIRT045641)

    Block miRNA regulation of human, mouse, rat NUP214 using miScript Target Protectors
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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
    NU214_HUMAN, P35658: Nucleus, nuclear pore complex. Note=Cytoplasmic filaments
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol4
    plasma membrane3
    endoplasmic reticulum1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005643nuclear pore IEA--
    GO:0005654nucleoplasm TAS--
    GO:0005829cytosol TAS--
    GO:0005925focal adhesion IDA--

    NUP214 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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    SuperPaths for NUP214 About   (see all 20)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Regulation of Glucokinase by Glucokinase Regulatory Protein
    Transport of the SLBP Dependant Mature mRNA0.92
    Export of Viral Ribonucleoproteins from Nucleus0.88
    Transport of Mature mRNAs Derived from Intronless Transcripts0.92
    Transport of Ribonucleoproteins into the Host Nucleus0.88
    Transport of the SLBP independent Mature mRNA0.91
    Regulation of Glucokinase by Glucokinase Regulatory Protein0.87
    Nuclear import of Rev protein0.91
    Glucose transport0.87
    2HIV Life Cycle
    HIV Life Cycle0.91
    HIV Infection0.62
    Late Phase of HIV Life Cycle0.91
    Host Interactions of HIV factors0.60
    3Interferon Signaling
    Interferon Signaling0.59
    ISG15 antiviral mechanism0.42
    Cytokine Signaling in Immune system0.59
    Antiviral mechanism by IFN-stimulated genes0.42
    4Cell Cycle, Mitotic
    Cell Cycle, Mitotic0.90
    M Phase0.62
    Cell Cycle0.90
    5Transport of Mature Transcript to Cytoplasm
    Transport of Mature Transcript to Cytoplasm0.93
    Transport of Mature mRNA derived from an Intron-Containing Transcript0.93

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4 BioSystems Pathways for NUP214
        TGF-beta Receptor Signaling Pathway
    BMP receptor signaling
    Regulation of cytoplasmic and nuclear SMAD2/3 signaling
    Role of Calcineurin-dependent NFAT signaling in lymphocytes

    Selected Reactome Pathways for NUP214 (see all 7)
        Rev-mediated nuclear export of HIV RNA
    Regulation of Glucokinase by Glucokinase Regulatory Protein
    Nuclear import of Rev protein
    Nuclear Pore Complex (NPC) Disassembly
    Vpr-mediated nuclear import of PICs


    2 Kegg Pathways  (Kegg details for NUP214):
        RNA transport
    Epstein-Barr virus infection


    NUP214 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for NUP214
    Interactions:

        GeneGlobe Interaction Network for NUP214

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

    Selected Interacting proteins for NUP214 (P356582, 3 ENSP000003524004) via UniProtKB, MINT, STRING, and/or I2D (see all 154)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NXF1Q9UBU92, 3, ENSP000002941724MINT-15076 I2D: score=3 STRING: ENSP00000294172
    NUP107P577402, 3, ENSP000002291794MINT-4301750 I2D: score=2 STRING: ENSP00000229179
    NXF2Q9GZY03, ENSP000003618434I2D: score=1 STRING: ENSP00000361843
    APCP250543, ENSP000002574304I2D: score=3 STRING: ENSP00000257430
    NUP88Q995673, ENSP000002256964I2D: score=3 STRING: ENSP00000225696
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000278mitotic cell cycle TAS--
    GO:0005975carbohydrate metabolic process TAS--
    GO:0006406mRNA export from nucleus IEA--
    GO:0006606protein import into nucleus IEA--
    GO:0006611protein export from nucleus IMP12191473

    NUP214 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
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for NUP214 (NU214)

    1 Novoseek inferred chemical compound relationship for NUP214 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    leptomycin b 70.5 1 16484227 (1)



    NUP214 for compounds           About GeneDecksing



    (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 NUP214 gene: 
    NM_005085.3  

    Unigene Cluster for NUP214:

    Nucleoporin 214kDa
    Hs.654530  [show with all ESTs]
    Unigene Representative Sequence: BC105998
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 27):
    ENST00000359428(uc004cag.3) ENST00000411637(uc004cah.3) ENST00000531584
    ENST00000526412 ENST00000525561 ENST00000530843 ENST00000530863 ENST00000525980
    ENST00000530630 ENST00000489260 ENST00000526346 ENST00000531929 ENST00000524578
    ENST00000453861(uc010mzi.1 uc010mzg.3) ENST00000470765 ENST00000483497(uc011mcf.1 uc010mzh.1 uc011mcg.2)
    ENST00000465486 ENST00000531600
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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      QuantiFast Probe-based Assays in human, mouse, rat NUP214

    Additional mRNA sequence: 

    AB159230.1 AJ420413.1 AK302676.1 AK303016.1 AK307573.1 AK310406.1 AK310476.1 AK310515.1 
    AK316417.1 AK316435.1 AL832609.2 BC012500.1 BC045620.1 BC105998.1 BX537986.1 D14689.1 
    X64228.1 

    24 DOTS entries:

    DT.453259  DT.99946775  DT.91802533  DT.97819744  DT.40244489  DT.92460700  DT.92068544  DT.121159449 
    DT.75189159  DT.100798030  DT.95121236  DT.100798031  DT.121159432  DT.121159477  DT.75172818  DT.92460671 
    DT.92460693  DT.92460701  DT.95117258  DT.97845015  DT.86855004  DT.92460689  DT.95121234  DT.95178225 

    Selected AceView cDNA sequences (see all 335):

    BU726859 BQ212823 AI934821 BU737134 CB162015 BX107437 AI636198 D12142 
    T12558 AI417420 BM545068 AU100267 AA286804 AU077281 BM799324 BX495633 
    AI674135 BU164616 BQ188124 AU125828 AA913406 BC045620 BE793711 BU634167 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for NUP214 (see all 11)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21 ^ 22 ^ 23 ^
    SP1:                                                                                                                                -     -                     
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                  -         
    SP5:                                                                                                                                                            

    ExUns: 24a · 24b ^ 25 ^ 26a · 26b ^ 27 ^ 28 ^ 29 ^ 30 ^ 31a · 31b ^ 32a · 32b · 32c ^ 33a · 33b ^ 34
    SP1:                                      -     -           -           -                 -               
    SP2:                                                                                                      
    SP3:                                                                                                      
    SP4:                                                                                                      
    SP5:                                                                                                      


    ECgene alternative splicing isoforms for NUP214

    (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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    NUP214 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTGGGTTTTC
    NUP214 Expression
    About this image


    NUP214 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Blood (Hematopoietic System)
             Monocytes Peripheral Blood
     
     Testis (Reproductive System)
    NUP214 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NUP214 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.654530

    UniProtKB/Swiss-Prot: NU214_HUMAN, P35658
    Tissue specificity: Expressed in thymus, spleen, bone marrow, kidney, brain and testis, but hardly in all other
    tissues or in whole embryos during development

        Custom PCR Arrays for NUP214
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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 NUP214 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nup2141 , 5 nucleoporin 2141, 5 80.97(n)1
    78.21(a)1
      2 (21.97 cM)5
    2277201  NM_172268.21  NP_758472.21 
     319744365 
    chicken
    (Gallus gallus)
    Aves NUP2141 nucleoporin 214kDa 68.45(n)
    66.19(a)
      427760  XM_425333.4  XP_425333.4 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    80(a)
    63(a)
    many → 1
    many → 1
    AAWZ02041538(658-5538)
    GL344605.1(13555-26621)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC525412 similar to nucleoporin 214kDa 74.17(n)    AJ243889.1 
    zebrafish
    (Danio rerio)
    Actinopterygii 570883232   -- 72.56(n)    57088323 
    fruit fly
    (Drosophila melanogaster)
    Insecta Nup2143   -- 28(a)   59B6   --
    worm
    (Caenorhabditis elegans)
    Secernentea npp-146
    Protein NPP-14 (npp-14) mRNA, complete cds
    20(a)
    1 ↔ 1
    I(9660175-9665144) WBGene00003800


    ENSEMBL Gene Tree for NUP214 (if available)
    TreeFam Gene Tree for NUP214 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NUP214 gene
    1 SIMAP similar gene for NUP214 using alignment to 10 protein entries:     NU214_HUMAN (see all proteins):
    DKFZp686J0330

    NUP214 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 NUP214 (see all 2359)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0358584
    A breast cancer sample4--see VAR_0358582 A V mis40--------
    VAR_0358564
    A breast cancer sample4--see VAR_0358562 G A mis40--------
    VAR_0358574
    A breast cancer sample4--see VAR_0358572 P L mis40--------
    rs1498416041,2
    C--103503670(+) GTGGT-/ATCTTT 1 -- int10--------
    rs3678333421,2
    C--103503670(+) GTGGT-/ATCTTTTT 1 -- int10--------
    rs2011026811,2
    C--103535061(+) TTTTTG/TTTTTT 1 -- int10--------
    rs352328131,2
    C--103539408(+) TTTTT-/T/TT  
            
    GAGAC
    1 -- int11NA 2
    rs2016391251,2
    --103562149(+) AACTC-/TGTGTGT 1 -- int10--------
    rs573862011,2
    C--133999099(+) AAAAAA/-GAACC 1 -- us2k12Minor allele frequency- -:0.00NA CSA 4
    rs348160961,2
    C--133999320(+) GTGTG-/TA    
       TA
    /TT
    TATAT
    1 -- us2k10--------

    HapMap Linkage Disequilibrium report for NUP214 (134000948 - 134110057 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for NUP214:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv893974CNV Loss21882294
    nsv831739CNV Loss17160897
    dgv8311n71CNV Loss21882294
    nsv893979CNV Loss21882294
    dgv8310n71CNV Loss21882294
    nsv831737CNV Loss17160897
    nsv831738CNV Loss17160897
    esv7289CNV Gain19470904
    esv275417CNV Gain+Loss21479260
    dgv2423e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): NUP214
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NUP214
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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.)
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    OMIM gene information: 114350   
    OMIM disorders: 601626  
    UniProtKB/Swiss-Prot: NU214_HUMAN, P35658
  • Note=A chromosomal aberration involving NUP214 is found in a subset of acute myeloid leukemia (AML); also
    known as acute non-lymphocytic leukemia. Translocation t(6;9)(p23;q34) with DEK. It results in the formation of a
    DEK-CAN fusion gene
  • Note=A chromosomal aberration involving NUP214 is found in some cases of acute undifferentiated leukemia
    (AUL). Translocation t(6;9)(q21;q34.1) with SET

  • 20 diseases for NUP214:    
    About MalaCards
    acute t cell leukemia    acute myeloid leukemia    acute undifferentiated leukemia    myelodysplastic syndromes
    glucocorticoid resistance    myeloid leukemia    leukemia    brain cancer
    lymphoblastic leukemia    t-cell leukemia    influenza    breast and colorectal cancer
    ischemia    hepatitis b    hiv-1    hepatitis
    colorectal cancer    multiple myeloma    myeloma    malaria

    1 disease from the University of Copenhagen DISEASES database for NUP214:
    Leukemia

    NUP214 for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for NUP214 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    t-all 59 1 15361874 (1)
    immunodeficiency 22.9 1 9847314 (1)

    Genetic Association Database (GAD): NUP214
    Human Genome Epidemiology (HuGE) Navigator: NUP214 (3 documents)

    Export disorders for NUP214 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 NUP214 gene, integrated from 10 sources (see all 118):
    (articles sorted by number of sources associating them with NUP214)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The human CAN protein, a putative oncogene product associated with myeloid leukemogenesis, is a nuclear pore complex protein that faces the cytoplasm. (PubMed id 8108440)1, 2, 3, 9 Kraemer D.... Radu A. (Proc. Natl. Acad. Sci. U.S.A. 1994)
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    3. Herpesvirus capsid association with the nuclear pore complex and viral DNA release involve the nucleoporin CAN/Nup214 and the capsid protein pUL25. (PubMed id 19386703)1, 2 Pasdeloup D.... Rixon F.J. (J. Virol. 2009)
    4. The mRNA export protein DBP5 binds RNA and the cytoplasmic nucleoporin NUP214 in a mutually exclusive manner. (PubMed id 19219046)1, 2 von Moeller H.... Conti E. (Nat. Struct. Mol. Biol. 2009)
    5. Crystal structure of the N-terminal domain of the human protooncogene Nup214/CAN. (PubMed id 17264208)1, 2 Napetschnig J.... Hoelz A. (Proc. Natl. Acad. Sci. U.S.A. 2007)
    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. Exportin-5, a novel karyopherin, mediates nuclear export of double- stranded RNA binding proteins. (PubMed id 11777942)1, 2 Brownawell A.M. and Macara I.G. (J. Cell Biol. 2002)
    8. The human homologue of yeast CRM1 is in a dynamic subcomplex with CAN/Nup214 and the novel nuclear pore component Nup88. (PubMed id 9049309)1, 2 Fornerod M.... Grosveld G. (EMBO J. 1997)
    9. Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1. (PubMed id 7584026)1, 2 Nomura N.... Tabata S. (DNA Res. 1994)
    10. The translocation (6;9), associated with a specific subtype of acute myeloid leukemia, results in the fusion of two genes, dek and can, and the expression of a chimeric, leukemia-specific dek-can mRNA. (PubMed id 1549122)1, 2 Von Lindern M.... Grosveld G. (Mol. Cell. Biol. 1992)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 8021 HGNC: 8064 AceView: NUP214 Ensembl:ENSG00000126883 euGenes: HUgn8021
    ECgene: NUP214 Kegg: 8021 H-InvDB: NUP214

    (According to HUGE)
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    HUGE: KIAA0023

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for NUP214 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for NUP214 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for NUP214 gene:
    Search GeneIP for patents involving NUP214

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



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