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C19orf47 Gene

protein-coding   GIFtS: 43
GCID: GC19M040826

Chromosome 19 Open Reading Frame 47

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Chromosome 19 Open Reading Frame 471 2
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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for C19orf47 Gene:
C19orf47 (chromosome 19 open reading frame 47) is a protein-coding 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000019.9  NT_011109.17  NC_018930.2  
Regulatory elements:
   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 Chromatin IP Primers for C19orf47

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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

Explore proteomics data for C19orf47 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See C19orf47 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000463159   ENSP00000464567   ENSP00000375889   ENSP00000350556   ENSP00000463305  
     ENSP00000464478   ENSP00000463294  

    C19orf47 Human Recombinant Protein Products:

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    Novus Biologicals C19orf47 Lysate
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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for C19orf47

     
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    antibodies-online proteins for C19orf47 (2 products) 

     
    antibodies-online peptides for C19orf47

    C19orf47 Antibody Products:

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    antibodies-online antibodies for C19orf47 (19 products) 

    C19orf47 Assay Products:

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    Cloud-Clone Corp. ELISAs for C19orf47
    Cloud-Clone Corp. CLIAs for C19orf47
    Search eBioscience for ELISAs for C19orf47 
    antibodies-online kits for C19orf47 (2 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR013761 SAM/pointed

    Graphical View of Domain Structure for InterPro Entry Q8N9M1

    ProtoNet protein and cluster: Q8N9M1


    Find genes that share domains with C19orf47           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for C19orf47

    miRNA
    Products:
        
    miRTarBase miRNAs that target C19orf47:
    hsa-mir-128-3p (MIRT045866)

    Block miRNA regulation of human, mouse, rat C19orf47 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate C19orf47 (see all 9):
    hsa-miR-224 hsa-miR-539 hsa-miR-766 hsa-miR-132 hsa-miR-570 hsa-miR-656 hsa-miR-1827 hsa-miR-212
    SwitchGear 3'UTR luciferase reporter plasmidC19orf47 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat C19orf47

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    GenScript: all cDNA clones in your preferred vector: C19orf47 (NM_178830)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for C19orf47
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C19orf47

    Cell Line
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C19orf47


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus4
    cytosol1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--

    Find genes that share ontologies with C19orf47           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for C19orf47
    Interactions:

        Search GeneGlobe Interaction Network 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, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for C19orf47 (CS047)



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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
    miRNA
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    Block miRNA regulation of human, mouse, rat C19orf47 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate C19orf47 (see all 9):
    hsa-miR-224 hsa-miR-539 hsa-miR-766 hsa-miR-132 hsa-miR-570 hsa-miR-656 hsa-miR-1827 hsa-miR-212
    SwitchGear 3'UTR luciferase reporter plasmidC19orf47 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for C19orf47
    Predesigned siRNA for gene silencing in human, mouse, rat C19orf47
    Clone
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    OriGene clones in human, mouse for C19orf47 (see all 5)
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    GenScript: all cDNA clones in your preferred vector: C19orf47 (NM_178830)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for C19orf47
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C19orf47
    Primer
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    OriGene qPCR primer pairs and template standards for C19orf47
    OriGene qSTAR qPCR primer pairs in human, mouse for C19orf47
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat C19orf47
      QuantiTect SYBR Green Assays in human, mouse, rat C19orf47
      QuantiFast Probe-based Assays in human, mouse, rat C19orf47

    Additional mRNA 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.100783729  DT.100783731  DT.121470336  DT.100707851 
    DT.100885917  DT.91781047 

    Selected AceView cDNA sequences (see all 94):

    AL555423 AJ572881 AK094207 BU857685 BX363522 NM_178830 BI259748 BI256930 
    BC027935 BQ879861 BM987294 BI827924 F36994 BG680008 AI886956 BM670612 
    AI969781 BQ685500 BC023623 BM459040 BM763065 BQ686373 BM711112 BE395946 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    C19orf47 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCCTCTGTGC
    C19orf47 Expression
    About this image

    C19orf47 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    C19orf47 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.631557
        Custom PCR Arrays for C19orf47
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C19orf47

    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for C19orf47 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 2310022A10Rik1 RIKEN cDNA 2310022A10 gene 83.83(n)
    85.5(a)
      66367  NM_175107.5  NP_780316.3 
    lizard
    (Anolis carolinensis)
    Reptilia C19orf476
    chromosome 19 open reading frame 47
    62(a)
    1 ↔ 1
    LGf(2268935-2277057)
    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:ch211-160d20.31 si:ch211-160d20.3 61.38(n)
    62.61(a)
      692267  NM_001045241.1  NP_001038706.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG168126
    --
    22(a)
    1 ↔ 1
    2L(13222561-13224550)
    worm
    (Caenorhabditis elegans)
    Secernentea F53F8.56
    Protein F53F8.5 (F53F8.5) mRNA, complete cds
    20(a)
    1 ↔ 1
    V(20700559-20704037) WBGene00010002


    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)
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    Paralogs for C19orf47 gene
    Selected SIMAP similar genes for C19orf47 using alignment to 6 protein entries:     CS047_HUMAN (see all proteins) (see all similar genes):
    MTX2    ECD    COX7A2    C12orf23    ZNF738    SENP7
    SUN3    WDR6    PSD3    TGFBR3    IPO7    MST132
    C15orf40    ZNF415    ZNF616    CNOT2    FANCA    KLHDC1

    Find genes that share paralogs with C19orf47           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for C19orf47 (see all 557)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1511458541,2
    C--40826503(+) GCCCTA/GGCCAC 3 -- ds50010--------
    rs1410804371,2
    C--40826707(+) GGTGCC/TAGCAG 3 -- ds50010--------
    rs773350651,2
    C,F--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
    C--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
         Database of Genomic Variants (DGV) 3 variations for C19orf47:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv3867n71CNV Loss21882294
    nsv833831CNV Loss17160897
    dgv1083e1CNV Complex17122850

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing C19orf47
    DNA2.0 Custom Variant and Variant Library Synthesis for C19orf47

    (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.)
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      --

    (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)
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    PubMed articles for C19orf47 gene, integrated from 10 sources (see all 12):
    (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. (Nat. Genet. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    3. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    4. 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. (Sci. Signal. 2009)
    5. Two-hybrid analysis identifies PSMD11, a non-ATPase subunit of the proteasome, as a novel interaction partner of AMP-activated protein kinase. (PubMed id 19616115)1 Moreno D.... Sanz P. (Int. J. Biochem. Cell Biol. 2009)
    6. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (Proc. Natl. Acad. Sci. U.S.A. 2008)
    7. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (BMC Genomics 2007)
    8. The LIFEdb database in 2006. (PubMed id 16381901)1 Mehrle A....Wiemann S. (Nucleic Acids Res. 2006)
    9. 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. (Genome Res. 2004)
    10. From ORFeome to biology: a functional genomics pipeline. (PubMed id 15489336)1 Wiemann S....Poustka A. (Genome Res. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 126526 HGNC: 26723 AceView: FLJ36888 Ensembl:ENSG00000160392 euGenes: HUgn126526
    ECgene: C19orf47 H-InvDB: C19orf47

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    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.)
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    Patent Information for C19orf47 gene:
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    GeneCards and IP:
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