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NUP205 Gene

protein-coding   GIFtS: 55
GCID: GC07P135242

Nucleoporin 205kDa

(Previous name: chromosome 7 open reading frame 14)
(Previous symbol: C7orf14)
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)
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Aliases
Nucleoporin 205kDa1 2     KIAA02253 5
C7orf141 2 3 5     Chromosome 7 Open Reading Frame 141
Nucleoporin Nup2052 3     Nuclear Pore Complex Protein Nup2052
205 KDa Nucleoporin2 3     

External Ids:    HGNC: 186581   Entrez Gene: 231652   Ensembl: ENSG000001555617   OMIM: 6143525   UniProtKB: Q926213   

Export aliases for NUP205 gene to outside databases

Previous GC identifers: GC07P134659 GC07P134660 GC07P134699 GC07P134893 GC07P129545


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for NUP205 Gene:
NUP205 (nucleoporin 205kDa) is a protein-coding gene. Diseases associated with NUP205 include paget's disease of bone, and influenza. GO annotations related to this gene include structural constituent of nuclear pore.

UniProtKB/Swiss-Prot: NU205_HUMAN, Q92621
Function: Plays a role in the nuclear pore complex (NPC) assembly and/or maintenance. May anchor NUP62 and other
nucleoporins, but not NUP153 and TPR, to the NPC

Gene Wiki entry for NUP205 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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Regulatory elements:
   Regulatory transcription factor binding sites in the NUP205 gene promoter:
         GR   E2F-1   E2F   GR-beta   GR-alpha   YY1   C/EBPalpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): NUP205 promoter sequence
   Search Chromatin IP Primers for NUP205

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NUP205


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

Entrez Gene cytogenetic band: 7q33   Ensembl cytogenetic band:  7q33   HGNC cytogenetic band: 7q31.32

NUP205 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NUP205 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P135242:  view genomic region     (about GC identifiers)

Start:
135,242,662 bp from pter      End:
135,333,505 bp from pter
Size:
90,844 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 134,586,993-134,677,902     

(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: NU205_HUMAN, Q92621 (See protein sequence)
Recommended Name: Nuclear pore complex protein Nup205  
Size: 2012 amino acids; 227922 Da
Subunit: Part of the nuclear pore complex (NPC). Forms a complex with NUP53, NUP93, NUP155 and lamin B. Does not
interact with TPR
Sequence caution: Sequence=BAA13214.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: A6H8X3 Q86YC1

Explore the universe of human proteins at neXtProt for NUP205: NX_Q92621

Explore proteomics data for NUP205 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys18, Lys23, Lys41, Lys69, Lys156, Lys304, Lys321, Lys496, Lys571, Lys648,
                                 Lys918, Lys1150, Lys1177, Lys1219, Lys1461, Lys1732, Lys1988
  • Modification sites at PhosphoSitePlus

  • See NUP205 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_055950.1  
    ENSEMBL proteins: 
     ENSP00000285968   ENSP00000475665   ENSP00000475539   ENSP00000475318   ENSP00000475877  
     ENSP00000401983  
    Reactome Protein details: Q92621

    NUP205 Human Recombinant Protein Products:

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    Browse OriGene Protein Over-expression Lysates
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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for NUP205

    NUP205 Antibody Products:

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    Abcam antibodies for NUP205
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    NUP205 Assay Products:

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    Cloud-Clone Corp. ELISAs for NUP205
    Cloud-Clone Corp. CLIAs for NUP205


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR021827 Nup186/Nup192/Nup205

    Graphical View of Domain Structure for InterPro Entry Q92621

    ProtoNet protein and cluster: Q92621


    NUP205 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: NU205_HUMAN, Q92621
    Function: Plays a role in the nuclear pore complex (NPC) assembly and/or maintenance. May anchor NUP62 and other
    nucleoporins, but not NUP153 and TPR, to the NPC

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI9348540
    GO:0017056structural constituent of nuclear pore IMP15229283
         
    NUP205 for ontologies           About GeneDecksing


    Phenotypes:
         11 GenomeRNAi human phenotypes for NUP205:
     Decreased influenza A H1N1 (A/  Decreased influenza A H1N1 (A/  Decreased influenza A/WSN/33 r  Decreased viability of wild-ty 
     Increased S DNA content  Increased gamma-H2AX phosphory  Nuclear 40S maturation defects  Nuclear 60S biogenesis defects 
     Nucleoplasmic pre-40S maturati  S arrest  Synthetic lethal with Ras 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NUP205
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for NUP205

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NUP205
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NUP205

    miRNA
    Products:
        
    miRTarBase miRNAs that target NUP205:
    hsa-mir-93-5p (MIRT048836), hsa-mir-769-3p (MIRT039062), hsa-mir-125b-5p (MIRT046017), hsa-mir-221-3p (MIRT046969), hsa-mir-26a-5p (MIRT050156), hsa-mir-766-3p (MIRT039007), hsa-mir-10a-5p (MIRT047707), hsa-mir-92a-3p (MIRT049025)

    Block miRNA regulation of human, mouse, rat NUP205 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate NUP205:
    hsa-miR-548p hsa-miR-32*
    SwitchGear 3'UTR luciferase reporter plasmidNUP205 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat NUP205

    Gene Editing
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    Clone
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    OriGene clones in human, mouse for NUP205 (see all 5)
    OriGene ORF clones in mouse, rat for NUP205
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: NUP205 (NM_015135)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NUP205
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NUP205

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for NUP205
    Browse ESI BIO Cell Lines and PureStem Progenitors for NUP205 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NUP205


    (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
    NU205_HUMAN, Q92621: Nucleus membrane; Peripheral membrane protein. Nucleus, nuclear pore complex. Note=Localized
    near the center, on both the cytoplasmic and nuclear side, of the NPC core structure
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    plasma membrane3
    cytosol1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005635nuclear envelope TAS--
    GO:0005643nuclear pore NAS9348540
    GO:0031965nuclear membrane IDA15229283
    GO:0034399nuclear periphery IDA15229283

    NUP205 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 NUP205 About   (see all 14)                                                                                              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


    Selected Reactome Pathways for NUP205 (see all 6)
        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


    1 Kegg Pathway  (Kegg details for NUP205):
        RNA transport


    NUP205 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for NUP205
    Interactions:

        Search GeneGlobe Interaction Network for NUP205

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

    Selected Interacting proteins for NUP205 (Q926212, 3 ENSP000002859684) via UniProtKB, MINT, STRING, and/or I2D (see all 119)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NUP93Q8N1F72, 3, ENSP000003106684MINT-4301739 I2D: score=3 STRING: ENSP00000310668
    CLN3Q132863, ENSP000003530734I2D: score=3 STRING: ENSP00000353073
    MAGED1Q9Y5V33, ENSP000003648474I2D: score=2 STRING: ENSP00000364847
    PHLDA3Q9Y5J53, ENSP000003562784I2D: score=2 STRING: ENSP00000356278
    ESR2Q927313, ENSP000003439254I2D: score=1 STRING: ENSP00000343925
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000059protein import into nucleus, docking TAS9348540
    GO:0000278mitotic cell cycle TAS--
    GO:0005975carbohydrate metabolic process TAS--
    GO:0006913nucleocytoplasmic transport TAS9348540
    GO:0007077mitotic nuclear envelope disassembly TAS--

    NUP205 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 NUP205 (NU205)



    (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 NUP205 gene: 
    NM_015135.2  

    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000285968(uc011kqa.1 uc003vsw.3) ENST00000489493 ENST00000462316
    ENST00000607647 ENST00000472132 ENST00000463247 ENST00000477620 ENST00000461255
    ENST00000490439 ENST00000491089 ENST00000440390
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat NUP205 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate NUP205:
    hsa-miR-548p hsa-miR-32*
    SwitchGear 3'UTR luciferase reporter plasmidNUP205 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for NUP205
    Predesigned siRNA for gene silencing in human, mouse, rat NUP205
    Clone
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    OriGene clones in human, mouse for NUP205 (see all 5)
    OriGene ORF clones in mouse, rat for NUP205
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: NUP205 (NM_015135)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NUP205
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NUP205
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for NUP205
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NUP205
      QuantiTect SYBR Green Assays in human, mouse, rat NUP205
      QuantiFast Probe-based Assays in human, mouse, rat NUP205

    Selected AceView cDNA sequences (see all 279):

    T30558 AL526600 AI625579 BE502998 AI076510 BQ215184 CR610966 BF939669 
    BQ921736 BU617046 AI679422 BG253232 AA908946 BM830564 AA116104 R24574 
    BG682269 BC073947 BE503016 AI868817 CA397834 AA600190 AI969406 AW382494 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for NUP205    About this scheme

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

    ExUns: 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39 ^ 40 ^ 41a · 41b ^ 42 ^ 43 ^ 44 ^ 45
    SP1:                                                                                                                          -               
    SP2:                                                                                                                                          
    SP3:                                                                                                                                          
    SP4:                                                                                                                    -                     


    ECgene alternative splicing isoforms for NUP205

    (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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    NUP205 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATTTAGACCA
    NUP205 Expression
    About this image

    NUP205 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NUP205 Protein Expression
        Custom PCR Arrays for NUP205
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for NUP205
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NUP205
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    QuantiFast Probe-based Assays in human, mouse, rat NUP205
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NUP205

    (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 eukaryotes.

    Orthologs for NUP205 gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nup2051 , 5 nucleoporin 2051, 5 87.88(n)1
    93.57(a)1
      6 (15.24 cM)5
    706991  NM_027513.11  NP_081789.11 
     351776165 
    chicken
    (Gallus gallus)
    Aves NUP2051 nucleoporin 205kDa 78.71(n)
    89.36(a)
      417935  XM_416176.3  XP_416176.2 
    lizard
    (Anolis carolinensis)
    Reptilia NUP2056
    nucleoporin 205kDa
    85(a)
    1 ↔ 1
    5(28171642-28215749)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.132982 Xenopus laevis transcribed sequences 77.35(n)    AW640060.1 
    zebrafish
    (Danio rerio)
    Actinopterygii nup2051 nucleoporin 205 66.14(n)
    71.22(a)
      445382  NM_001003859.1  NP_001003859.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Nup2051 Nucleoporin 205 42.77(n)
    32.1(a)
      33002  NM_167687.2  NP_728308.1 
    worm
    (Caenorhabditis elegans)
    Secernentea npp-36
    Protein NPP-3 (npp-3) mRNA, complete cds
    19(a)
    1 ↔ 1
    II(11865523-11874714) WBGene00003789
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G512001 AT5G51200 41.87(n)
    27.67(a)
      835195  NM_124499.5  NP_199933.5 


    ENSEMBL Gene Tree for NUP205 (if available)
    TreeFam Gene Tree for NUP205 (if available)

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

    (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 NUP205 (see all 2184)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs117695571,2
    C,F,A,H--135240765(+) ACTGCA/GCCCGG 1 -- us2k18Minor allele frequency- G:0.33NA WA EA 368
    rs1509728211,2
    --135240840(+) CCAAGC/TGCAGT 1 -- us2k10--------
    rs1170251951,2
    C,F--135240856(+) AGGGGC/TTTATG 1 -- us2k11Minor allele frequency- T:0.06EA 120
    rs1874828271,2
    --135240896(+) AGAAGC/GCTGTG 1 -- us2k10--------
    rs47283561,2
    C,F,H--135240927(+) AATGAT/CAGGTG 1 -- us2k125Minor allele frequency- C:0.03NS EA NA WA CSA 1891
    rs69613911,2
    C,F,A,H--135240951(+) GGAATT/CTAAAG 1 -- us2k123Minor allele frequency- C:0.12NS EA NA WA 2764
    rs1421691071,2
    --135241015(+) AAAAGA/TGCATG 1 -- us2k10--------
    rs133113261,2
    C,F,H--135241045(+) AATAGC/TTGTGC 1 -- us2k122Minor allele frequency- T:0.31NS EA NA WA 2762
    rs1914573031,2
    --135241049(+) GCTGTA/GCTGAG 1 -- us2k10--------
    rs125353181,2
    C,F,A,H--135241215(+) ATATAT/ACAATG 1 -- us2k117Minor allele frequency- A:0.29NS EA NA WA 1974

    HapMap Linkage Disequilibrium report for NUP205 (135242662 - 135333505 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for NUP205:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2659766CNV Deletion23128226
    esv2735191CNV Deletion23290073
    esv2288564CNV Deletion18987734
    esv2675714CNV Deletion23128226
    esv2485767CNV Deletion19546169
    nsv831146CNV Loss17160897
    nsv520786CNV Gain19592680

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NUP205
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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: 614352    OMIM disorders: --

    6 diseases for NUP205:    About MalaCards
    paget's disease of bone    influenza    hiv-1    neuroblastoma
    hepatitis    malaria

    1 disease from the University of Copenhagen DISEASES database for NUP205:
    Paget's disease of bone

    NUP205 for disorders           About GeneDecksing

    Genetic Association Database (GAD): NUP205

    Export disorders for NUP205 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 NUP205 gene, integrated from 10 sources (see all 49):
    (articles sorted by number of sources associating them with NUP205)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Nup93, a vertebrate homologue of yeast Nic96p, forms a complex with a novel 205-kDa protein and is required for correct nuclear pore assembly. (PubMed id 9348540)1, 2, 3 Grandi P....Hurt E. (Mol. Biol. Cell 1997)
    2. Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain. (PubMed id 9039502)1, 2, 3 Nagase T.... Nomura N. (DNA Res. 1996)
    3. Nucleoporins as components of the nuclear pore complex core structure and Tpr as the architectural element of the nuclear basket. (PubMed id 15229283)1, 2, 9 Krull S.... Cordes V.C. (Mol. Biol. Cell 2004)
    4. Vertebrate Nup53 interacts with the nuclear lamina and is required for the assembly of a Nup93-containing complex. (PubMed id 15703211)1, 2, 9 Hawryluk-Gara L.A.... Wozniak R.W. (Mol. Biol. Cell 2005)
    5. Genome-wide association identifies three new susceptibility loci for Paget's disease of bone. (PubMed id 21623375)1, 4 Albagha O.M....Ralston S.H. (Nat. Genet. 2011)
    6. 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)
    7. Direct interaction with nup153 mediates binding of Tpr to the periphery of the nuclear pore complex. (PubMed id 12802065)1, 2 Hase M.E. and Cordes V.C. (Mol. Biol. Cell 2003)
    8. VCP phosphorylation-dependent interaction partners prevent apoptosis in Helicobacter pylori-infected gastric epithelial cells. (PubMed id 23383273)1 Yu C.C....Chow L.P. (PLoS ONE 2013)
    9. Drafting the CLN3 protein interactome in SH-SY5Y human neuroblastoma cells: a label-free quantitative proteomics approach. (PubMed id 23464991)1 Scifo E....Lalowski M. (J. Proteome Res. 2013)
    10. The novel ubiquitin ligase complex, SCF(Fbxw4), interacts with the COP9 signalosome in an F-box dependent manner, is mutated, lost and under-expressed in human cancers. (PubMed id 23658844)1 Lockwood W.W....Beverly L.J. (PLoS ONE 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 23165 HGNC: 18658 AceView: NUP205 Ensembl:ENSG00000155561 euGenes: HUgn23165
    ECgene: NUP205 Kegg: 23165 H-InvDB: NUP205

    (According to HUGE)
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    HUGE: KIAA0225

    (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 NUP205 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for NUP205 gene:
    Search GeneIP for patents involving NUP205

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



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