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C17orf99 Gene

protein-coding   GIFtS: 37
GCID: GC17P076142

Chromosome 17 Open Reading Frame 99

  Search for C17orf99
at  

(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 17 Open Reading Frame 991 2
GLPG4642
Uncharacterized Protein C17orf992

External Ids:    HGNC: 344901   Entrez Gene: 1001415152   Ensembl: ENSG000001879977   UniProtKB: Q6UX523   

Export aliases for C17orf99 gene to outside databases

Previous GC identifers: GC17U901110 GC17P073655 GC17P071566


(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 C17orf99 Gene:
C17orf99 (chromosome 17 open reading frame 99) 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:
NC_000017.11  NT_010783.16  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the C17orf99 gene promoter:
         GATA-3   Pax-5   Nkx6-1   AML1a   p53   POU3F1   GATA-1   GATA-2   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for C17orf99

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C17orf99


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

Entrez Gene cytogenetic band: 17q25.3   Ensembl cytogenetic band:  17q25.3   HGNC cytogenetic band: 17q25.3

C17orf99 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C17orf99 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P076142:  view genomic region     (about GC identifiers)

Start:
76,142,434 bp from pter      End:
76,162,364 bp from pter
Size:
19,931 bases      Orientation:
plus 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: CQ099_HUMAN, Q6UX52 (See protein sequence)
Recommended Name: Uncharacterized protein C17orf99 precursor  
Size: 265 amino acids; 29091 Da

Explore the universe of human proteins at neXtProt for C17orf99: NX_Q6UX52

Explore proteomics data for C17orf99 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn86, Asn132

  • See C17orf99 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001156547.1  
    ENSEMBL proteins: 
     ENSP00000343493   ENSP00000464854   ENSP00000466133  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    ProtoNet protein and cluster: Q6UX52


    (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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Phenotypes:
         1 MGI phenotypic allele for 6030468B19Rik (no phenotypes)

    C17orf99 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out 6030468B19Riktm1Lex for C17orf99

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    (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 UniProtKB/Swiss-Prot
    CQ099_HUMAN, Q6UX52: Secreted (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular4
    cytosol1
    mitochondrion1
    nucleus1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--

    C17orf99 for ontologies           About GeneDecksing


    (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 C17orf99
    Interactions:

        Search GeneGlobe Interaction Network for C17orf99

    (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 C17orf99 (CQ099)



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for C17orf99 gene: 
    NM_001163075.1  

    Unigene Cluster for C17orf99:

    Chromosome 17 open reading frame 99
    Hs.633034  [show with all ESTs]
    Unigene Representative Sequence: NM_001163075
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000340363(uc002jus.4) ENST00000586999 ENST00000591995 ENST00000451352(uc010wts.1)
    ENST00000586029 ENST00000586246
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    Additional mRNA sequence: AY358510.1 

    4 DOTS entries:

    DT.91676796  DT.443129  DT.87046233  DT.99953257 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for C17orf99    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5a · 5b
    SP1:        -                                             
    SP2:                                -                     
    SP3:                                                      


    ECgene alternative splicing isoforms for C17orf99

    (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 Genevestigator, and/or 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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    C17orf99 expression in normal human tissues (normalized intensities)      C17orf99 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAAAATGAGT
    C17orf99 Expression
    About this image


    C17orf99 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Blood (Hematopoietic System)
             Proerythroblasts Hematopoietic Bone Marrow
     
     Spleen (Hematopoietic System)
    C17orf99 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    C17orf99 Protein Expression

    Genevestigator expression for C17orf99

    SOURCE GeneReport for Unigene cluster: Hs.633034
        Custom PCR Arrays for C17orf99
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    In Situ
    Assay Products:
     

     
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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)
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    This gene was present in the common ancestor of human and mouse.

    Orthologs for C17orf99 gene from Selected species (see all 5)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 6030468B19Rik1 , 5 RIKEN cDNA 6030468B19 gene1, 5 70.35(n)1
    57.21(a)1
      11 (82.96 cM)5
    777271  NM_029964.11  NP_084240.11 
     1177976605 


    ENSEMBL Gene Tree for C17orf99 (if available)
    TreeFam Gene Tree for C17orf99 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (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 C17orf99 (see all 608)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs759450701,2
    C,F--76140605(+) TCTTCA/GGTTCC 1 -- us2k11Minor allele frequency- G:0.13WA 118
    rs283753301,2
    C,F--76140752(+) GGCAGC/ACTCCA 1 -- us2k13Minor allele frequency- A:0.23WA CSA 121
    rs1449196341,2
    --76140772(+) CCATGA/GGTAGC 1 -- us2k10--------
    rs728962631,2
    C--76140773(+) CATGGG/ATAGCA 1 -- us2k14Minor allele frequency- A:0.29WA NA 242
    rs1837116181,2
    C--76140822(+) CCACCA/GAGGGG 1 -- us2k10--------
    rs1387476121,2
    --76140906(+) GGTCAG/TCAGGG 1 -- us2k10--------
    rs713859341,2
    C,F--76140935(+) TTCCCA/GACACA 1 -- us2k15Minor allele frequency- G:0.04NA WA EA 246
    rs1412927671,2
    --76140980(+) GCTGAC/GAGGAG 1 -- us2k10--------
    rs1882318411,2
    --76141020(+) TTGGTC/TAGGTG 1 -- us2k10--------
    rs1925831971,2
    C--76141036(+) TCCTGG/TACGGT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for C17orf99 (76142434 - 76162364 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for C17orf99:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv3277n71CNV Loss21882294
    nsv908871CNV Loss21882294
    dgv3275n71CNV Loss21882294
    nsv908860CNV Loss21882294
    nsv470607CNV Loss18288195
    dgv3279n71CNV Loss21882294
    dgv3276n71CNV Loss21882294
    dgv3278n71CNV Loss21882294
    nsv908872CNV Gain21882294
    nsv833554CNV Gain+Loss17160897

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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.)
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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 C17orf99 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with C17orf99)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PubMed id 15340161)1, 2 Zhang Z. and Henzel W.J. (Protein Sci. 2004)
    2. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (Genome Res. 2003)
    3. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PubMed id 16625196)2 Zody M.C.... Nusbaum C. (Nature 2006)
    4. The sequence of the human genome. (PubMed id 11181995)1 Venter J.C.... Zhu X. (Science 2001)

    (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: 100141515 HGNC: 34490 Ensembl:ENSG00000187997 euGenes: HUgn100141515 ECgene: C17orf99
    H-InvDB: C17orf99

    (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)
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    NameDescription
    PharmGKB entry for C17orf99 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 C17orf99 gene:
    Search GeneIP for patents involving C17orf99

    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C17orf99
     Browse SwitchGear 3'UTR luciferase reporter plasmids for C17orf99
     Browse SwitchGear Promoter luciferase reporter plasmids for C17orf99
     Search ThermoFisher Antibodies for C17orf99
     Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat C17orf99
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for C17orf99
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for C17orf99
     LSBio Antibodies in human, mouse, rat for C17orf99
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