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

C19orf47 Gene

protein-coding   GIFtS: 40
GCID: GC19M040826

chromosome 19 open reading frame 47

  Search for C19orf47
in our new
 Human Malady Compendium 
Biological research products
for C19orf47
    

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

Aliases
Chromosome 19 Open Reading Frame 471 2
FLJ368881
Uncharacterized Protein C19orf472

External Ids:    HGNC: 267231   Entrez Gene: 1265262   Ensembl: ENSG000001603927   UniProtKB: Q8N9M13   

Export aliases for C19orf47 gene to outside databases

Previous GC identifers: GC19M045517 GC19M037262


(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_000019.9  NC_018930.1  NT_011109.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C19orf47 gene promoter:
         Max1   Pax-5   AREB6   CP2   CBF-A   CBF-B   CP1A   c-Myc   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidC19orf47 promoter sequence
   Search SABiosciences Chromatin IP Primers for C19orf47

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C19orf47


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

Entrez Gene cytogenetic band: 19q13.2   Ensembl cytogenetic band:  19q13.2   HGNC cytogenetic band: 19q13.2

C19orf47 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C19orf47 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M040826:  view genomic region     (about GC identifiers)

Start:
40,825,443 bp from pter      End:
40,854,434 bp from pter
Size:
28,992 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: CS047_HUMAN, Q8N9M1 (See protein sequence)
Recommended Name: Uncharacterized protein C19orf47  
Size: 422 amino acids; 44746 Da
Secondary accessions: Q8IZ33 Q8N0V9
Alternative splicing: 3 isoforms:  Q8N9M1-1   Q8N9M1-2   Q8N9M1-3   

Explore the universe of human proteins at neXtProt for C19orf47: NX_Q8N9M1

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8N9M1

  • C19orf47 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001243369.1  NP_001243370.1  

    ENSEMBL proteins: 
     ENSP00000463159   ENSP00000464567   ENSP00000375889   ENSP00000350556   ENSP00000463305  
     ENSP00000464478   ENSP00000463294  

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

    C19orf47 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR013761 SAM/pointed

    Graphical View of Domain Structure for InterPro Entry Q8N9M1

    ProtoNet protein and cluster: Q8N9M1


    (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 C19orf47

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

    1 Interacting protein for C19orf47 (ENSP000003758894) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PRKAA2ENSP000003602904STRING: ENSP00000360290
    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 C19orf47
    Search CenterWatch for drugs/clinical trials and news about C19orf47 / CS047 

    (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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    About This Section

    REFSEQ mRNAs for C19orf47 gene (3 alternative transcripts): 
    NM_178830.2  NM_001256440.1  NM_001256441.1  

    Unigene Cluster for C19orf47:

    Chromosome 19 open reading frame 47
    Hs.631557  [show with all ESTs]
    Unigene Representative Sequence: CR936760
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000582783(uc002oni.4) ENST00000577617 ENST00000392035(uc002ong.3 uc002onh.3)
    ENST00000582734 ENST00000584868 ENST00000357884 ENST00000582006 ENST00000580606
    ENST00000580977

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    hsa-miR-224 hsa-miR-539 hsa-miR-766 hsa-miR-132 hsa-miR-570 hsa-miR-656 hsa-miR-1827 hsa-miR-212
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    Additional cDNA sequence: 

    AK094207.1 AL834131.1 BC023623.2 BC027935.1 CR936760.1 NR_046202.1 

    10 DOTS entries:

    DT.308784  DT.100783728  DT.121470397  DT.95070273  DT.100783731  DT.121470336  DT.100783729  DT.100707851 
    DT.100885917  DT.91781047 

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

    AI886956 AL834131 BC027935 BI256930 BQ879861 F36994 BG680008 NM_178830 
    AI969781 BM763065 BM459040 BX363522 BI259748 BI827924 BM987294 CR615433 
    BE395946 BM703209 AK094207 BQ064955 AL555423 BQ675553 CR591102 BQ686373 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for C19orf47 (see all 6)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b · 12c ^ 13a · 13b
    SP1:        -     -           -                       -                                                   
    SP2:              -                                   -                                                   
    SP3:                          -                                                                           
    SP4:                          -                       -                                                   
    SP5:                                                  -                                                   


    ECgene alternative splicing isoforms for C19orf47

    (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

    C19orf47 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TCCTCTGTGC

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

    About this image
    See C19orf47 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C19orf47

    SOURCE GeneReport for Unigene cluster: Hs.631557
        SABiosciences Custom PCR Arrays for C19orf47
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    In Situ
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    (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 animals.

    Orthologs for C19orf47 gene from 5/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    lizard
    (Anolis carolinensis)
    Reptilia C19orf476
    --
    62(a)
    1 ↔ 1
    LGf(2268935-2276631)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.67392 Xenopus laevis transcribed sequence with weak similarity more 75.82(n)    BX854187.1 
    zebrafish
    (Danio rerio)
    Actinopterygii si:ch211-160d20.36
    si:ch211-160d20.3
    51(a)
    1 ↔ 1
    18(35122766-35139877)
    fruit fly
    (Drosophila melanogaster)
    Insecta CG168126
    --
    20(a)
    1 ↔ 1
    2L(13222561-13224550)
    worm
    (Caenorhabditis elegans)
    Secernentea F53F8.56
    Protein F53F8.5
    19(a)
    1 ↔ 1
    V(20700528-20704006)
            Species with no ortholog for C19orf47

    ENSEMBL Gene Tree for C19orf47 (if available)
    TreeFam Gene Tree for C19orf47 (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

    10/424 NCBI SNPs in C19orf47 are shown (see all 424    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1511458541,2
    --40826503(+) GCCCTA/GGCCAC 3 -- ds50010--------
    rs1410804371,2
    --40826707(+) GGTGCC/TAGCAG 3 -- ds50010--------
    rs773350651,2
    C,--40826722(+) GTGAAA/CTCCAT 3 -- ds50012Minor allele frequency- C:0.09CSA WA 120
    rs1895903071,2
    --40826855(+) TGTGTA/GTGCAG 3 -- ds50010--------
    rs1820537351,2
    --40826947(+) ACTCAC/TCCTGA 3 -- ds50010--------
    rs454976951,2
    C,F,--40826964(+) GGGGGA/TAATGA 3 -- ds50016Minor allele frequency- T:0.20WA CSA NA EA 363
    rs761056091,2
    C,F,--40827436(+) GCTGGG/AGTCTG 3 -- ut31 nc-transcript-variant1Minor allele frequency- A:0.04EA 120
    rs1406571471,2
    --40827598(+) CCAGGC/TCAGCT 3 -- ut31 nc-transcript-variant0--------
    rs1458407411,2
    --40827606(+) GCTGCA/GACGAC 3 -- ut31 nc-transcript-variant0--------
    rs1876611821,2
    --40827645(+) CCCCCA/GAATGC 3 -- ut31 nc-transcript-variant0--------

    HapMap Linkage Disequilibrium report for C19orf47 (40825443 - 40854434 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for C19orf47
         1 CNV: 4080

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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
      --

    (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 C19orf47 gene, integrated from 9 sources (see all 11):
    (articles sorted by number of sources associating them with C19orf47)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
    3. Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. (PubMed id 19690332)2 Mayya V.... Han D.K. (2009)
    4. Two-hybrid analysis identifies PSMD11, a non-ATPase s ubunit of the proteasome, as a novel interaction partner of AMP-activated prote in kinase. (PubMed id 19616115)1 Moreno D....Sanz P. (2009)
    5. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (2008)
    6. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    7. The LIFEdb database in 2006. (PubMed id 16381901)1 Mehrle A....Wiemann S. (2006)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    9. From ORFeome to biology: a functional genomics pipeline. (PubMed id 15489336)1 Wiemann S....Poustka A. (2004)
    10. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1 Wiemann S.... Poustka A. (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: 126526 HGNC: 26723 AceView: FLJ36888 Ensembl:ENSG00000160392 euGenes: HUgn126526
    ECgene: C19orf47 H-InvDB: C19orf47

    (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 C19orf47 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 C19orf47 gene:
    Search GeneIP for patents involving C19orf47

    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 , 27 Apr 2013

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    VWF
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    von Willebrand factor
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