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

C5orf56 Gene

protein-coding   GIFtS: 34
GCID: GC05P131775

Chromosome 5 Open Reading Frame 56

  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

Aliases
Chromosome 5 Open Reading Frame 561 2

External Ids:    HGNC: 338381   Entrez Gene: 4411082   Ensembl: ENSG000001975367   UniProtKB: Q8N8D93   

Export aliases for C5orf56 gene to outside databases

Previous GC identifer: GC05P126938


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

GeneCards Summary for C5orf56 Gene: 
C5orf56 (chromosome 5 open reading frame 56) is a protein-coding gene. Diseases associated with C5orf56 include crohn's disease, and psoriasis.


(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_000005.9  NC_018916.2  NT_034772.6  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C5orf56 gene promoter:
         c-Fos   C/EBPbeta   AP-1   E47   GATA-2   c-Ets-1   MEF-2A   aMEF-2   c-Jun   Pax-4a   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for C5orf56

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C5orf56


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

C5orf56 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C5orf56 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P131775:  view genomic region     (about GC identifiers)

Start:
131,746,328 bp from pter      End:
131,822,549 bp from pter
Size:
76,222 bases      Orientation:
plus strand

(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: CE056_HUMAN, Q8N8D9 (See protein sequence)
Recommended Name: Uncharacterized protein C5orf56  
Size: 126 amino acids; 14652 Da
Secondary accessions: A1L3V9 A6NKA0
Alternative splicing: 2 isoforms:  Q8N8D9-1   Q8N8D9-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for C5orf56: NX_Q8N8D9

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8N8D9

  • C5orf56 Protein expression data from MOPED1, PaxDb2 and MAXQB3 : --

    ENSEMBL proteins: 
     ENSP00000368236   ENSP00000338228   ENSP00000368230   ENSP00000385513  

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

    ProtoNet protein and cluster: Q8N8D9


    (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

    Animal Models:
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    (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



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for C5orf56

    (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 C5orf56 (CE056)

    Search CenterWatch for drugs/clinical trials and news about C5orf56 / CE056

    (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,
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    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 C5orf56 gene (4 alternative transcripts): 
    NM_001013717.2  NM_001207001.1  NM_001207002.1  NM_001207003.1  

    Unigene Cluster for C5orf56:

    Chromosome 5 open reading frame 56
    Hs.658288  [show with all ESTs]
    Unigene Representative Sequence: AL713721
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000378953(uc003kwz.2 uc010jds.2) ENST00000461203 ENST00000337752(uc003kwy.2 uc021ydl.1)
    ENST00000378947 ENST00000407797 ENST00000464024
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    Additional mRNA sequence: 

    AK096941.1 AK128882.1 AK309191.1 AL713721.1 BC130299.1 BC130656.1 NR_045116.1 

    15 DOTS entries:

    DT.211638  DT.120846158  DT.97832204  DT.99930770  DT.120846277  DT.211640  DT.95136413  DT.86852360 
    DT.91666246  DT.100652196  DT.206801  DT.211639  DT.40245309  DT.92436975  DT.95220220 

    24/49 AceView cDNA sequences (see all 49):

    AA295106 CR615570 CN480423 AW014287 AA358892 BM985103 AA324298 AK128882 
    BX456850 AW002034 BF931426 AL713721 AI018587 AF086145 BM007885 AI143416 
    AK129632 AW008030 BF476224 AL564637 AW072550 AK096941 AK025221 AI033261 

    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

    C5orf56 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTCCTTTTAC
    C5orf56 Expression
    About this image


    Genevestigator expression for C5orf56

    SOURCE GeneReport for Unigene cluster: Hs.658288
        SABiosciences Custom PCR Arrays for C5orf56
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C5orf56

    (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 human and chimp.

    Orthologs for C5orf56 gene from 1 species (see representative species )    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chimpanzee
    (Pan troglodytes)
    Mammalia LOC7439896
    PREDICTED: Pan troglodytes uncharacterized protein...
    99(a)
    1 ↔ 1
    5(133077417-133142592)


    ENSEMBL Gene Tree for C5orf56 (if available)
    TreeFam Gene Tree for C5orf56 (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

    10/1268 SNPs in C5orf56 are shown (see all 1268)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs131900011,2
    C,F,A,H--131744482(+) GTTCCC/TGACAG 1 -- us2k112Minor allele frequency- T:0.14NS EA NA WA CSA 788
    rs1432006551,2
    --131744550(+) CAAACA/CCTGCC 1 -- us2k10--------
    rs562900201,2
    C,F--131744567(+) ATACAT/CAGTAA 1 -- us2k13Minor allele frequency- C:0.03WA CSA 122
    rs10169881,2
    C,F,H--131744574(+) gtaacT/Catgtg 1 -- us2k117Minor allele frequency- C:0.21NS EA NA WA 2338
    rs1879300021,2
    --131744594(+) TTTCCC/TTCATC 1 -- us2k10--------
    rs1912404021,2
    --131744638(+) TAATAC/TACCAC 1 -- us2k10--------
    rs1482701801,2
    --131744651(+) GATAGC/TAGGGA 1 -- us2k10--------
    rs131528791,2
    C,F,H--131744728(+) AATCAG/ATCAGT 1 -- us2k111Minor allele frequency- A:0.06NS EA NA WA CSA 786
    rs131528851,2
    C--131744751(+) TTTATG/CCAACA 1 -- us2k13Minor allele frequency- C:0.15NA EA 242
    rs801203661,2
    C,F--131744765(+) CTAATC/TGACTC 1 -- us2k11Minor allele frequency- T:0.10WA 118

    HapMap Linkage Disequilibrium report for C5orf56 (131746328 - 131822549 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for C5orf56:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2730790CNV Deletion23290073
    nsv5002CNV Insertion18451855
    nsv882898CNV Loss21882294
    nsv462452CNV Gain19166990
    nsv471048CNV Gain18288195

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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
    3 diseases for C5orf56:    About MalaCards
    crohn's disease    psoriasis    asthma


    C5orf56 for disorders           About GeneDecksing

    Genetic Association Database (GAD): C5orf56
    Human Genome Epidemiology (HuGE) Navigator: C5orf56 (4 documents)

    Export disorders for C5orf56 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 C5orf56 gene, integrated from 9 sources (see all 13):
    (articles sorted by number of sources associating them with C5orf56)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Fucosyltransferase 2 (FUT2) non-secretor status is as sociated with Crohn's disease. (PubMed id 20570966)1, 4 McGovern D.P....Rotter J.I. (2010)
    2. Analysis of 39 Crohn's disease risk loci in Swedish i nflammatory bowel disease patients. (PubMed id 19760754)1, 4 TAPrkvist L....Pettersson S. (2010)
    3. Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. (PubMed id 21102463)1, 4 Franke A....Parkes M. (2010)
    4. Molecular reclassification of Crohn's disease by clus ter analysis of genetic variants. (PubMed id 20886065)1, 4 Cleynen I....Vermeire S. (2010)
    5. Novel loci, including those related to Crohn disease, psoriasis, and inflammation, identified in a genome-wide association study of fibrinogen in 17 686 women: the Women's Genome Health Study. (PubMed id 20031577)1, 4 Danik J.S....Ridker P.M. (2009)
    6. Association of novel genetic Loci with circulating fi brinogen levels: a genome-wide association study in 6 population-based cohorts. (PubMed id 20031576)1, 4 Dehghan A....Gieger C. (2009)
    7. Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. (PubMed id 18587394)1, 4 Barrett J.C....Daly M.J. (2008)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    9. Genome-wide association study to identify genetic dete rminants of severe asthma. (PubMed id 22561531)1 Wan Y.I....Hall I.P. (2012)
    10. Host-microbe interactions have shaped the genetic arch itecture of inflammatory bowel disease. (PubMed id 23128233)1 Jostins L....Cho J.H. (2012)

    (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: 441108 HGNC: 33838 AceView: LOC441108 Ensembl:ENSG00000197536 euGenes: HUgn441108
    ECgene: C5orf56 H-InvDB: C5orf56

    (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 C5orf56 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 C5orf56 gene:
    Search GeneIP for patents involving C5orf56

    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, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, 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, In Situ Hybridization Assays from
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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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