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

C6orf47 Gene

protein-coding   GIFtS: 41
GCID: GC06M031646

chromosome 6 open reading frame 47

 Explore 9 diseases affiliated with
C6orf47 via our new
 Human Malady Compendium 
Biological research products
for C6orf47
    

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

Aliases
Chromosome 6 Open Reading Frame 471 2
G41 2 3
D6S53E1 2
Protein G42 3
NG342
Uncharacterized Protein C6orf472

External Ids:    HGNC: 190761   Entrez Gene: 578272   Ensembl: ENSG000002044397   UniProtKB: O958733   

Export aliases for C6orf47 gene to outside databases

Previous GC identifers: GC06M031689 GC06M031396 GC06M031730 GC06M031735 GC06M031627 GC06M031630 GC06M031634 GC06M031637 GC06M031641


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

  --

(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_000006.11  NC_018917.1  NT_007592.15  NT_113891.2  NT_167245.1  NT_167246.1  NT_167247.1  NT_167248.1  
NT_167249.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C6orf47 gene promoter:
         PPAR-gamma1   Pax-5   HTF   Hand1   HNF-4alpha2   PPAR-gamma2   E47   HNF-4alpha1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for C6orf47

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C6orf47


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

Entrez Gene cytogenetic band: 6p21.3   Ensembl cytogenetic band:  6p21.33   HGNC cytogenetic band: 6p21.3

C6orf47 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C6orf47 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M031646:  view genomic region     (about GC identifiers)

Start:
31,626,075 bp from pter      End:
31,628,549 bp from pter
Size:
2,475 bases      Orientation:
minus strand

6 alternative locations:
Chr6-,ALT_REF_LOCI_3 31,608,257-31,621,769      Chr6-,ALT_REF_LOCI_4 31,588,623-31,591,098      Chr6-,ALT_REF_LOCI_2 31,613,489-31,655,152     
Chr6-,ALT_REF_LOCI_5 31,617,178-31,619,652      Chr6-,ALT_REF_LOCI_6 31,616,315-31,654,370      Chr6-,ALT_REF_LOCI_7 31,546,338-31,548,812     

(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: CF047_HUMAN, O95873 (See protein sequence)
Recommended Name: Uncharacterized protein C6orf47  
Size: 294 amino acids; 31710 Da
Secondary accessions: B0UXA1 B0UZ50 Q5SSS6 Q95IG0

Explore the universe of human proteins at neXtProt for C6orf47: NX_O95873

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O95873

  • C6orf47 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_067007.3  
    ENSEMBL proteins: 
     ENSP00000365076  

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

    ProtoNet protein and cluster: O95873


    (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
    Products:
        
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    SwitchGear 3'UTR luciferase reporter plasmidC6orf47 3' UTR sequence
    Inhib. RNA
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    1 GenomeRNAi human phenotype for C6orf47:
     Increased gamma-H2AX phosphory 


    (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 C6orf47

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    3 Interacting proteins for C6orf47 (O958733 ENSP000003650764) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FGFR3P226073, ENSP000002607954I2D: score=2 STRING: ENSP00000260795
    ENO2P091043I2D: score=3 
    --Q6FHV63I2D: score=1 
    About this table

    (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 C6orf47
    Search CenterWatch for drugs/clinical trials and news about C6orf47 / CF047 

    (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,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for C6orf47 gene: 
    NM_021184.3  

    Unigene Cluster for C6orf47:

    Chromosome 6 open reading frame 47
    Hs.247323  [show with all ESTs]
    Unigene Representative Sequence: NM_021184
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000375911(uc003nvm.1)

    miRNA
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    8/15 QIAGEN miScript miRNA Assays for microRNAs that regulate C6orf47 (see all 15):
    hsa-miR-142-3p hsa-miR-140-5p hsa-miR-125a-5p hsa-miR-137 hsa-miR-4299 hsa-miR-544b hsa-miR-149 hsa-miR-125b
    SwitchGear 3'UTR luciferase reporter plasmidC6orf47 3' UTR sequence
    Inhib. RNA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat C6orf47
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C6orf47

    Additional cDNA sequence: 

    AJ245433.1 AK315349.1 BC012950.1 BC063584.1 

    6 DOTS entries:

    DT.121312702  DT.452848  DT.91768636  DT.121312771  DT.91768626  DT.91700705 

    24/94 AceView cDNA sequences (see all 94):

    BE549642 AI272171 AI703075 BM808745 BM915324 BC012950 BC063584 BI820798 
    AV725733 AI278956 AA447094 AA236884 AA455884 BM550864 AL570738 AW189292 
    BQ446760 BI858749 BQ017906 BQ575043 BQ001892 BI457130 AA508848 AA351927 

    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

    C6orf47 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GGAGCCAGAG

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

    About this image
    See C6orf47 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C6orf47

    SOURCE GeneReport for Unigene cluster: Hs.247323
        SABiosciences Custom PCR Arrays for C6orf47
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C6orf47

    (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 mouse.

    Orthologs for C6orf47 gene from 1/5 species (see all 5)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia D17H6S53E1 , 5 DNA segment, Chr 17, human D6S53E1, 5 79.29(n)1
    76.11(a)1
      17 (18.59 cM)5
    1145851  NM_033477.21  NP_258438.11 
     351263735 


    ENSEMBL Gene Tree for C6orf47 (if available)
    TreeFam Gene Tree for C6orf47 (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

    10/41 NCBI SNPs in C6orf47 are shown (see all 41    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2003196801,2
    C--31626598(-) CACCTC/TCAGTT 1 -- ut310--------
    rs77565031,2
    C--31626634(+) AGCTGA/GTGAAT 1 -- ut31 ese30--------
    rs1448857331,2
    F--31626894(+) AACCCC/TTCACT 2 E syn11Minor allele frequency- T:0.00NA 4542
    rs1449370931,2
    C,F,--31626904(+) TCTCCC/GAGTCA 2 S W mis11Minor allele frequency- G:0.01NA 4542
    rs1140795721,2
    C,F,--31626938(+) CTCCCG/AGAGGC 2 /R /W mis12Minor allele frequency- A:0.00WA NA 4650
    rs1887248541,2
    --31627017(+) AGGCTC/TAGAAC 2 L syn10--------
    rs1456951131,2
    C,F--31627091(+) TCCACG/ACAGGC 2 /R /C mis12Minor allele frequency- A:0.00NA EU 5315
    rs1481243251,2
    F--31627242(+) CCTGGT/ATCCCC 2 /E /D mis11Minor allele frequency- A:0.00NA 4528
    rs769670271,2
    C--31627243(-) GGGGGA/GACCAG 2 E G mis10--------
    rs1479449341,2
    C,F--31627273(+) TCTCAC/TGCCTA 2 H R mis12Minor allele frequency- T:0.00NA EU 5761

    HapMap Linkage Disequilibrium report for C6orf47 (31626075 - 31628549 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for C6orf47: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing C6orf47
    DNA2.0 Custom Variant and Variant Library Synthesis for C6orf47

    (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

    C6orf47 for disorders           About GeneDecksing

    9 diseases for C6orf47:    About MalaCards
    human t-cell leukemia virus type 1    systemic lupus erythematosus    lupus erythematosus    gastroenteritis
    t-cell leukemia    rheumatoid arthritis    diarrhea    arthritis
    leukemia

    Human Genome Epidemiology (HuGE) Navigator: C6orf47 (7 documents)

    Export disorders for C6orf47 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 C6orf47 gene, integrated from 9 sources (see all 15):
    (articles sorted by number of sources associating them with C6orf47)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (2003)
    3. Analysis of the gene-dense major histocompatibility complex class III region and its comparison to mouse. (PubMed id 14656967)1, 2 Xie T.... Hood L. (2003)
    4. Identification of multiple HTF-island associated genes in the human major histocompatibility complex class III region. (PubMed id 2477242)1, 3 Sargent C.A.... Campbell R.D. (1989)
    5. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    6. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1 Bailey S.D....Anand S. (2010)
    7. Gene-centric association signals for lipids and apoli poproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)1 Talmud P.J.... . (2009)
    8. High-density SNP screening of the major histocompatib ility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions. (PubMed id 19851445)1 Barcellos L.F....Criswell L.A. (2009)
    9. Association of MHC SNP genotype with susceptibility to type 1 diabetes: a modified survival approach. (PubMed id 19143821)1 McKinnon E....James I. (2009)
    10. Fine mapping of the MHC Class III region demonstrates association of AIF1 and rheumatoid arthritis. (PubMed id 18835879)1 Harney S.M....Brown M.A. (2008)

    (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: 57827 HGNC: 19076 AceView: C6orf47 Ensembl:ENSG00000204439 euGenes: HUgn57827
    ECgene: C6orf47 H-InvDB: C6orf47

    (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 C6orf47 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 C6orf47 gene:
    Search GeneIP for patents involving C6orf47

    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),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

     
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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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    VWF
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    von Willebrand factor
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