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

C17orf51 Gene

protein-coding   GIFtS: 36
GCID: GC17M021428

chromosome 17 open reading frame 51
  Search for C17orf51
in
MalaCards
our new
 Human Malady Compendium 
Biological research products
for C17orf51    

Aliases
for C17orf51 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Chromosome 17 Open Reading Frame 511 2
FLJ129771
FLJ318741
FLJ336181
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


Summaries
for C17orf51 gene

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

Genomic Views
for C17orf51 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.1  NT_010718.16  
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-,PATCHES 21,432,312-21,455,680     

Proteins
for C17orf51 gene

(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: 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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_A8MQB3

    • C17orf51 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001106905.1  
    ENSEMBL proteins: 
     ENSP00000384286   ENSP00000445158  

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    Protein Domains /
    Families
    for C17orf51 gene

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

    ProtoNet protein and cluster: A8MQB3


    Function
    for C17orf51 gene

    (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 & Interactions
    for C17orf51 gene

    (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 C17orf51

    Drugs & Compounds
    for C17orf51 gene

    (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
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    Browse Tocris compounds for C17orf51
    Search CenterWatch for drugs/clinical trials and news about C17orf51 / CQ051 

    Transcripts
    for C17orf51 gene

    (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,
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    About This Section
    REFSEQ mRNAs for C17orf51 gene: 
    NM_001113434.3  

    Unigene Clusters for C17orf51:

    Chromosome 17 open reading frame 51
    Hs.514016  [show with all ESTs], Hs.603880  [show with all ESTs]
    Unigene Representative Sequences: BX640850, NM_001113434
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000540508 ENST00000538604 ENST00000391411(uc002gyw.4) ENST00000426261
    ENST00000468381(uc002gyx.1) ENST00000535846 ENST00000412778

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    Additional cDNA sequence: 

    AK023039.1 AK056436.1 AK096256.1 AK123143.1 BC010612.1 BC019938.1 BC040371.1 BC052777.1 
    BC053952.1 BC132738.1 BC136630.1 

    6 DOTS entries:

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

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

    BE048218 AI436005 BX508561 AI261371 BX643233 AI863443 BX492444 AW665843 
    AI803203 BM676133 AK056436 AA436149 BX089315 AA234772 BC010612 BQ613752 
    BM714548 AI589783 CA445161 BE550623 BU740875 BC053952 AI475020 BC019938 

    GeneLoc Exon Structure


    Expression
    for C17orf51 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TAAGATTGAG

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

    C17orf51 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Definitive endoderm-like cells (A scalable, suspensi...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

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

    SOURCE GeneReport for Unigene clusters: Hs.514016 Hs.603880
        SABiosciences Custom PCR Arrays for C17orf51
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    In Situ
    Assay Products:     
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    Orthologs
    for C17orf51 gene

    (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
    		   --

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

    Paralogs
    for C17orf51 gene

    (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


    Genomic Variants
    for C17orf51 gene

    (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

    10/373 NCBI SNPs in C17orf51 are shown (see all 373)     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
    		--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,--21431579(+) TTTTTA/CATATT 1 -- ut312Minor allele frequency- C:0.10WA 120
    rs1840070701,2
    		--21431617(+) GCCTGA/CCCTCT 1 -- ut310--------
    rs1885484041,2
    		--21431638(+) TGGGCC/TTCTGG 1 -- ut310--------

    HapMap Linkage Disequilibrium report for C17orf51 (21428051 - 21477781 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 14 variations for C17orf51
         14 CNVs: 34476 22964 9285 23254 34521 49833 32161 9769 53641 49832 49834 4027 8837 7150

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    Disorders / Diseases
    for C17orf51 gene

    (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
    		   --

    Publications
    for C17orf51 gene

    (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. 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)

    External Searches for C17orf51 gene

    (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)

    Genome Databases showing C17orf51 gene

    (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

    Other Databases showing C17orf51 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing C17orf51 gene

    (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

    Intellectual Property
    for C17orf51 gene

    (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



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    for C17orf51 gene

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    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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