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

C5orf20 Gene

protein-coding   GIFtS: 36
GCID: GC05M134808

chromosome 5 open reading frame 20

  Search for C5orf20
in our new
 Human Malady Compendium 
Biological research products
for C5orf20
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Chromosome 5 Open Reading Frame 201 2
DCNP11 2 5
Dendritic Cell Nuclear Protein 12

External Ids:    HGNC: 244591   Entrez Gene: 1409472   Ensembl: ENSG000002513807   OMIM: 6097105   UniProtKB: Q8TF633   

Export aliases for C5orf20 gene to outside databases

Previous GC identifer: GC05M129967


(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 C5orf20:
This intronless gene is specifically expressed in dendritic cells (DCs), which are potent antigen-presenting cells
involved in activating naive T cells to initiate antigen-specific immune response. The encoded protein is localized
mainly in the perinucleus. One of the alleles (A/T) of this gene, that causes premature translation termination at aa
117, has been associated with an increased prevalence of major depression in humans. (provided by RefSeq, Jul 2008)




(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_000005.9  NC_018916.1  NT_034772.6  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C5orf20 gene promoter:
         AML1a   SRF (504 AA)   Brachyury   POU3F1   RelA   NF-kappaB   POU2F1   POU2F1a   NF-kappaB1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for C5orf20

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C5orf20


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

Entrez Gene cytogenetic band: 5q31.1   Ensembl cytogenetic band:  5q31.1   HGNC cytogenetic band: 5q31.1

C5orf20 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C5orf20 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M134808:  view genomic region     (about GC identifiers)

Start:
134,779,904 bp from pter      End:
134,783,038 bp from pter
Size:
3,135 bases      Orientation:
minus strand

(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: DCNP1_HUMAN, Q8TF63 (See protein sequence)
Recommended Name: Dendritic cell nuclear protein 1  
Size: 244 amino acids; 26704 Da
Subcellular location: Nucleus. Note=Particularly on the periphery

Explore the universe of human proteins at neXtProt for C5orf20: NX_Q8TF63

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8TF63

  • C5orf20 Protein expression data from MOPED and PaxDb: --
    REFSEQ proteins: NP_570900.1  
    ENSEMBL proteins: 
     ENSP00000421871  

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    Uscn Proteins for C5orf20

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--


    C5orf20 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for C5orf20


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

    ProtoNet protein and cluster: Q8TF63


    (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

    miRNA
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    (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



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for C5orf20

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

    Browse Tocris compounds for C5orf20
    Search CenterWatch for drugs/clinical trials and news about C5orf20 / DCNP1 

    (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,
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    About This Section

    REFSEQ mRNAs for C5orf20 gene: 
    NM_130848.2  

    Unigene Cluster for C5orf20:

    Chromosome 5 open reading frame 20
    Hs.152477  [show with all ESTs]
    Unigene Representative Sequence: NM_130848
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000503143(uc003lav.3)

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    Additional cDNA sequence: 

    AB074498.1 BC069608.1 BC069610.1 BC074831.2 BC074832.2 BC117156.1 BC117158.1 

    1 DOTS entry:

    DT.40118818 

    19 AceView cDNA sequences:

    NM_130848 BC074831 AA342611 AK131088 AI192229 AB074498 AI554057 AI439681 
    BC069608 BC069610 BC074832 AI372915 AA565873 BX114721 AW136257 AI141949 
    AI673027 AJ715236 BF352034 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, 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

    C5orf20 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GTGGCAGCCT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    Genevestigator expression for C5orf20

    SOURCE GeneReport for Unigene cluster: Hs.152477

    UniProtKB/Swiss-Prot: DCNP1_HUMAN, Q8TF63
    Tissue specificity: Predominantly expressed in dendritic cells. Detected in brain and skeletal muscle. Highly expressed
    in mature dendritic cells and at a lower level in immature dendritic cells. Not expressed in monocytes and B-cells

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C5orf20

    (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
      --

    ENSEMBL Gene Tree for C5orf20 (if available)
    TreeFam Gene Tree for C5orf20 (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, 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

    10/124 NCBI SNPs in C5orf20 are shown (see all 124    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs8741581,2
    C,F,A,H,--134779417(-) AGTCCG/AAGTAC 1 -- ds500122Minor allele frequency- A:0.15NS EA NA CSA WA 2566
    rs8741571,2
    C,F,A,H,--134779462(-) GTGCTG/TGCAGC 1 -- ds500116Minor allele frequency- T:0.31NS EA NA WA CSA 790
    rs350932951,2
    --134779469(+) GCACCC/TCTTAA 1 -- ds50010--------
    rs787817731,2
    C,--134779530(+) GCAGAA/GGAACC 1 -- ds50010--------
    rs49762551,2
    C,F,A,H,--134779544(+) AATGGC/TCCAGG 1 -- ds500114Minor allele frequency- T:0.21NA NS EA WA 922
    rs1497676031,2
    --134779819(+) GAGTTC/TACAAA 1 -- ds50010--------
    rs74431981,2
    H--134779857(+) CTCACG/AGCCCG 1 -- ds50014Minor allele frequency- A:0.00NS EA 418
    rs1180976341,2
    --134779897(+) CAGCTG/AAGAAT 1 -- ds50011Minor allele frequency- A:0.01EA 120
    rs1875293321,2
    --134779918(+) TGGTAA/GGTTTT 1 -- ut310--------
    rs1457239301,2
    --134779938(+) TAATCC/TGCCTG 1 -- ut310--------

    HapMap Linkage Disequilibrium report for C5orf20 (134779904 - 134783038 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for C5orf20: --

    SABiosciences Cancer Mutation PCR Assays
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    (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

    C5orf20 for disorders           About MalaCards

    C5orf20 for disorders           About GeneDecksing

    OMIM gene information: 609710    OMIM disorders: --

    Human Genome Epidemiology (HuGE) Navigator: C5orf20 (2 documents)

    Export disorders for C5orf20 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 C5orf20 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with C5orf20)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and immunocytochemical analysis of DCNP1, a dendritic cell-associated nuclear protein. (PubMed id 11798177)1, 2, 3, 9 Masuda M.... Nishimura Y. (2002)
    2. 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)
    3. Shotgun sequencing of the human transcriptome with ORF expressed sequence tags. (PubMed id 10737800)1, 3 Dias Neto E....Simpson A.J.G. (2000)
    4. Dendritic cell nuclear protein-1, a novel depression- related protein, upregulates corticotropin-releasing hormone expression. (PubMed id 20693543)1 Zhou T....Swaab D.F. (2010)
    5. Poor replication of candidate genes for major depress ive disorder using genome-wide association data. (PubMed id 20351714)1 Bosker F.J....Nolen W.A. (2010)
    6. A promoter nucleotide variant of the dendritic cell-specific DCNP1 associates with serum IgE levels specific for dust mite allergens among the Korean asthmatics. (PubMed id 17460725)1 Kim Y....Kimm K. (2007)
    7. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
    8. DCNP1: a novel candidate gene for major depression. (PubMed id 16189510)1 Willis-Owen S.A.G.... Flint J. (2006)
    9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    10. The sequence of the human genome. (PubMed id 11181995)1 Venter J.C.... Zhu X. (2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 140947 HGNC: 24459 AceView: DCNP1 Ensembl:ENSG00000251380 euGenes: HUgn140947
    ECgene: C5orf20 H-InvDB: C5orf20

    (According to HUGE)
    About This Section
      --

    (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 C5orf20 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 C5orf20 gene:
    Search GeneIP for patents involving C5orf20

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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