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

C17orf51 Gene

protein-coding   GIFtS: 35
GCID: GC17M021428

Chromosome 17 Open Reading Frame 51

  Search for C17orf51
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 17 Open Reading Frame 511 2
Uncharacterized Protein C17orf512

External Ids:    HGNC: 279041   Entrez Gene: 3392632   Ensembl: ENSG000002127197   UniProtKB: A8MQB33   

Export aliases for C17orf51 gene to outside databases

Previous GC identifers: GC17M021377 GC17M020633


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

GeneCards Summary for C17orf51 Gene: 
C17orf51 (chromosome 17 open reading frame 51) 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NT_010718.16  NC_018928.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C17orf51 gene promoter:
         HFH-3   ISGF-3   AP-1   FOXD3   Nkx2-5   FOXI1   POU2F1   POU2F1a   c-Myb   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for C17orf51

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C17orf51


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

Entrez Gene cytogenetic band: 17p11.2   Ensembl cytogenetic band:  17p11.2   HGNC cytogenetic band: 17p11.2

C17orf51 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C17orf51 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M021428:  view genomic region     (about GC identifiers)

Start:
21,428,051 bp from pter      End:
21,477,781 bp from pter
Size:
49,731 bases      Orientation:
minus strand

1 alternative location:
Chr17-,NW_003315950 180,675-204,043     

(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: CQ051_HUMAN, A8MQB3 (See protein sequence)
Recommended Name: Uncharacterized protein C17orf51  
Size: 221 amino acids; 24325 Da
Secondary accessions: B2RN29 B5MCL4

Explore the universe of human proteins at neXtProt for C17orf51: NX_A8MQB3

Explore proteomics data for C17orf51 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_A8MQB3

  • C17orf51 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    C17orf51 Protein Expression
    REFSEQ proteins: NP_001106905.1  
    ENSEMBL proteins: 
     ENSP00000384286   ENSP00000445158  

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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: A8MQB3


    (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:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for C17orf51 
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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 C17orf51

    (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 C17orf51 (CQ051)

    Search CenterWatch for drugs/clinical trials and news about C17orf51 / CQ051

    (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 C17orf51 gene: 
    NM_001113434.4  

    Unigene Clusters for C17orf51:

    Chromosome 17 open reading frame 51
    Hs.514016  [show with all ESTs], Hs.745165  [show with all ESTs]
    Unigene Representative Sequences: NM_001113434, BX640850
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000540508 ENST00000538604 ENST00000391411(uc002gyw.4) ENST00000426261
    ENST00000468381(uc002gyx.1) ENST00000535846 ENST00000412778
    miRNA
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C17orf51

    Additional mRNA sequence: 

    AK090937.1 BX640850.1 

    6 DOTS entries:

    DT.95157549  DT.112199  DT.309970  DT.75155610  DT.100754454  DT.95153780 

    24/100 AceView cDNA sequences (see all 100):

    BX643233 AA234772 AW665843 AK056436 BX089315 BC010612 BE550623 BM714548 
    BU740875 AI589783 BQ613752 CD245268 CA445161 AK123143 AI863443 BI259658 
    BC052777 AI939614 BC040371 BC053952 BE048218 AI475020 AI436005 AI803203 

    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

    C17orf51 expression in normal human tissues (normalized intensities)      C17orf51 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAAGATTGAG
    C17orf51 Expression
    About this image


    C17orf51 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/1 selected tissues (see all 1) fully expand
     
     Gut Tube (Gastrointestinal Tract)
             Definitive endoderm-like cells ( A scalable, suspension protocol for derivation of...

    See C17orf51 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C17orf51

    SOURCE GeneReport for Unigene clusters: Hs.514016 Hs.745165
        SABiosciences Custom PCR Arrays for C17orf51
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C17orf51

    (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 C17orf51 gene from 1 species (see representative species )    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chimpanzee
    (Pan troglodytes)
    Mammalia C17H17orf511 chromosome 17 open reading frame, human C17orf51 99.55(n)
    99.55(a)
      454516  XM_529828.4  XP_529828.2 


    ENSEMBL Gene Tree for C17orf51 (if available)
    TreeFam Gene Tree for C17orf51 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for C17orf51 gene
    3 SIMAP similar genes for C17orf51 using alignment to 2 protein entries:     CQ051_HUMAN (see all proteins):
    C14orf178    PLA2G15    PACSIN2

    C17orf51 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for C17orf51
    PGOHUM00000237313


    (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

    10/429 SNPs in C17orf51 are shown (see all 429)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1412564111,2
    --21431252(+) ATTAGC/TGTGTA 1 -- ds50010--------
    rs1450190061,2
    C--21431373(+) TGACCG/TCCTAT 1 -- ds50010--------
    rs674624471,2
    C,F--21431416(+) GGGAAC/TGCAGC 1 -- ds50017Minor allele frequency- T:0.13WA CSA NA EA 366
    rs65871591,2
    C,H--21431484(+) cccagC/Tcccta 1 -- ds500113Minor allele frequency- T:0.00NA WA CSA EA 375
    rs98990881,2
    C,F--21431530(+) gcaTTT/CATATT 1 -- ds50011Minor allele frequency- C:0.18WA 118
    rs65871601,2
    C,F,A--21431543(+) AATATG/ATAGAA 1 -- ds500111Minor allele frequency- A:0.43NA WA CSA EA 372
    rs1920594921,2
    --21431564(+) ATTACA/GTGCAG 1 -- ds50010--------
    rs739815101,2
    C,F--21431579(+) TTTTTA/CATATT 1 -- ut312Minor allele frequency- C:0.10WA 120
    rs1840070701,2
    C--21431617(+) GCCTGA/CCCTCT 1 -- ut310--------
    rs1885484041,2
    --21431638(+) TGGGCC/TTCTGG 1 -- ut310--------

    HapMap Linkage Disequilibrium report for C17orf51 (21428051 - 21477781 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/18 variations for C17orf51 (see all 18):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2660756CNV Deletion23128226
    esv32532CNV Loss17666407
    nsv9517CNV Loss18304495
    nsv2009CNV Loss18451855
    esv2751620CNV Loss17911159
    nsv907894CNV Loss21882294
    nsv907897CNV Gain21882294
    dgv3106n71CNV Gain21882294
    nsv907913CNV Gain21882294
    dgv363n27CNV Gain19166990

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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

    C17orf51 for disorders           About MalaCards

    C17orf51 for disorders           About GeneDecksing

    Genetic Association Database (GAD): C17orf51

    Export disorders for C17orf51 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 C17orf51 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with C17orf51)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PubMed id 16625196)1, 2 Zody M.C.... Nusbaum C. (2006)
    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. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. Genome-wide association analysis identifies three pso riasis susceptibility loci. (PubMed id 20953189)4 Stuart P.E....Elder J.T. (2010)
    5. 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)

    (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: 339263 HGNC: 27904 AceView: LOC339263 Ensembl:ENSG00000212719 euGenes: HUgn339263
    ECgene: C17orf51 H-InvDB: C17orf51

    (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 C17orf51 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 C17orf51 gene:
    Search GeneIP for patents involving C17orf51

    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
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    (GIFtS: 73)
    transforming growth factor, beta 1
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