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

NUP205 Gene

protein-coding   GIFtS: 57
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)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Nucleoporin 205kDa1 2     Chromosome 7 Open Reading Frame 141
C7orf141 2 3     Nuclear Pore Complex Protein Nup2052
Nucleoporin Nup2052 3     KIAA02253
205 KDa Nucleoporin2 3     

External Ids:    HGNC: 186581   Entrez Gene: 231652   Ensembl: ENSG000001555617   OMIM: 6143525   UniProtKB: Q926213   
ORGUL members:         
NONCODE14:n341331      

Export aliases for NUP205 gene to outside databases

Previous GC identifers: GC07P134659 GC07P134660 GC07P134699 GC07P134893 GC07P129545


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for NUP205 Gene: 
NUP205 (nucleoporin 205kDa) is a protein-coding gene, and is affiliated with the lncRNA class. Diseases associated with NUP205 include paget's disease of bone, and influenza, and among its related super-pathways are Interactions of Rev with host cellular proteins and HIV Life Cycle. GO annotations related to this gene include protein binding and 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NT_007933.15  NC_018918.2  NT_079596.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for NUP205

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: 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
Subcellular location: 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
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q92621

  • NUP205 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    NUP205 Protein Expression
    REFSEQ proteins: NP_055950.1  
    ENSEMBL proteins: 
     ENSP00000285968   ENSP00000475665   ENSP00000475539   ENSP00000475318   ENSP00000475877  
     ENSP00000401983  
    Reactome Protein details: Q92621
    Human Recombinant Protein Products for NUP205: 
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    Cloud-Clone Corp. Proteins for NUP205 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    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



    NUP205 Antibody Products: 
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    Cloud-Clone Corp. CLIAs for NUP205


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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 (GO ID links to tree view):    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 - Custom generated mouse model solutions for NUP205 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NUP205
    2 QIAGEN miScript miRNA Assays for microRNAs that regulate NUP205:
    hsa-miR-548p hsa-miR-32*
    SwitchGear 3'UTR luciferase reporter plasmidNUP205 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for NUP205
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    GenScript: all cDNA clones in your preferred vector: NUP205 (NM_015135)
    Browse Sino Biological Human cDNA Clones
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NUP205


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for NUP205 About   (see all 11)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Regulation of Glucokinase by Glucokinase Regulatory Protein
    Rev-mediated nuclear export of HIV RNA0.94
    Hexose transport0.87
    Nuclear import of Rev protein0.94
    Regulation of Glucokinase by Glucokinase Regulatory Protein0.82
    Interactions of Rev with host cellular proteins0.94
    Nuclear Pore Complex (NPC) Disassembly0.77
    Vpr-mediated nuclear import of PICs0.91
    Nuclear Envelope Breakdown0.77
    2HIV Life Cycle
    HIV Life Cycle0.92
    HIV Infection0.61
    Late Phase of HIV Life Cycle0.92
    Host Interactions of HIV factors0.60
    3Interferon Signaling
    Interferon Signaling0.61
    Antiviral mechanism by IFN-stimulated genes0.42
    Cytokine Signaling in Immune system0.61
    ISG15 antiviral mechanism0.42
    4M Phase
    M Phase0.88
    Mitotic M-M/G1 phases0.88
    5Cell Cycle
    Cell Cycle, Mitotic0.84
    Cell Cycle0.84

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5/29        Reactome Pathways for NUP205 (see all 29)
        Antiviral mechanism by IFN-stimulated genes
    Late Phase of HIV Life Cycle
    Metabolism
    Cell Cycle
    M Phase


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


    NUP205 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for NUP205

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

    5/93 Interacting proteins for NUP205 (Q926212, 3 ENSP000002859684) via UniProtKB, MINT, STRING, and/or I2D (see all 93)
    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): 5/14 biological process terms (GO ID links to tree view) (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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for NUP205 (NU205)

    Search CenterWatch for drugs/clinical trials and news about 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for NUP205 gene: 
    NM_015135.2  

    Unigene Cluster for NUP205:

    Nucleoporin 205kDa
    Hs.743250  [show with all ESTs]
    Unigene Representative Sequence: BC146784
    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:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NUP205
    2 QIAGEN miScript miRNA Assays for microRNAs that regulate NUP205:
    hsa-miR-548p hsa-miR-32*
    SwitchGear 3'UTR luciferase reporter plasmidNUP205 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for NUP205
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NUP205
    Clone
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    OriGene ORF clones in mouse, rat for NUP205
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    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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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NUP205
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NUP205

    Additional mRNA sequence: 

    AK293497.1 AK297307.1 BC044255.1 BC063612.1 BC073947.1 BC094868.1 BC136624.1 BC146784.1 
    D86978.1 

    13 DOTS entries:

    DT.216846  DT.86849832  DT.92440077  DT.100803838  DT.75188677  DT.95144879  DT.100886015  DT.70102401 
    DT.91947655  DT.92440072  DT.95144880  DT.95144883  DT.92054291 

    24/279 AceView cDNA sequences (see all 279):

    BQ061932 T30558 AL526600 AI625579 BE502998 AI076510 BQ215184 CR610966 
    BF939669 BQ921736 BU617046 AI679422 BG253232 AA908946 BM830564 AA116104 
    R24574 BG682269 BC073947 BE503016 AI868817 CA397834 CA414567 AL705176 

    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™, 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

    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


    See NUP205 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NUP205

    SOURCE GeneReport for Unigene cluster: Hs.743250
        SABiosciences Custom PCR Arrays for NUP205
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    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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for NUP205 gene from 9/19 species (see all 19)    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 78.68(n)
    89.41(a)
      417935  XM_416176.2  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 CG119431 CG11943 42.64(n)
    31.67(a)
      33002  NM_167687.2  NP_728308.1 
    worm
    (Caenorhabditis elegans)
    Secernentea npp-31 Protein NPP-3 38.27(n)
    23.16(a)
      174823  NM_064133.2  NP_496534.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes NUP1926
    Essential structural subunit of the nuclear pore c...
    17(a)
    1 ↔ 1
    X(368748-373799)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G512001 hypothetical protein 40.44(n)
    25.89(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)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2184 SNPs in NUP205 are shown (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
    ----------
    VAR_0505684
    ----see VAR_0505682 E Q mis40--------
    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--------

    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

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 614352    OMIM disorders: --

    3 diseases for NUP205:    About MalaCards
    paget's disease of bone    influenza    hepatitis

    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)
    About This Section

    PubMed articles for NUP205 gene, integrated from 9 sources (see all 47):
    (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. (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. (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. (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. (2005)
    5. Genome-wide association identifies three new suscepti bility loci for Paget's disease of bone. (PubMed id 21623375)1, 4 Albagha O.M....Ralston S.H. (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. (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. (2003)
    8. VCP phosphorylation-dependent interaction partners pre vent apoptosis in Helicobacter pylori-infected gastric epithelial cells. (PubMed id 23383273)1 Yu C.C....Chow L.P. (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. (2013)
    10. The novel ubiquitin ligase complex, SCF(Fbxw4), intera cts 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. (2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 23165 HGNC: 18658 AceView: NUP205 Ensembl:ENSG00000155561 euGenes: HUgn23165
    ECgene: NUP205 Kegg: 23165 H-InvDB: NUP205

    (According to HUGE)
    About This Section
    HUGE: KIAA0225

    (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 NUP205 Pharmacogenomics, SNPs, Pathways

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