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C6orf10 Gene

protein-coding   GIFtS: 46
GCID: GC06M032261

Chromosome 6 Open Reading Frame 10

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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 6 Open Reading Frame 101 2
Testis Specific Basic Protein1 2
TSBP2
Uncharacterized Protein C6orf102
C6orf1065

External Ids:    HGNC: 139221   Entrez Gene: 106652   Ensembl: ENSG000002042967   OMIM: 6122175   UniProtKB: Q5SRN23   

Export aliases for C6orf10 gene to outside databases

Previous GC identifers: GC06M032287 GC06M032031 GC06M032332 GC06M032368


(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 C6orf10 Gene:
C6orf10 (chromosome 6 open reading frame 10) is a protein-coding gene.

Gene Wiki entry for C6orf10 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_000006.11  NT_007592.16  NT_167245.2  NT_167246.2  NT_167248.2  NT_113891.3  NT_167249.2  NC_018917.2  
NT_167244.2  NT_167247.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the C6orf10 gene promoter:
         NF-1   FOXO3   CUTL1   LCR-F1   FOXO3b   FOXJ2 (long isoform)   FOXO1a   ARP-1   FOXO3a   FOXJ2   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for C6orf10

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C6orf10


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

Entrez Gene cytogenetic band: 6p21.3   Ensembl cytogenetic band:  6p21.32   HGNC cytogenetic band: 6p21.32

C6orf10 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C6orf10 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M032261:  view genomic region     (about GC identifiers)

Start:
32,256,303 bp from pter      End:
32,339,684 bp from pter
Size:
83,382 bases      Orientation:
minus strand

Selected alternative locations (see all 7):
Chr6-,NT_167247 3,670,160-3,719,241      Chr6-,NT_113891.2 3,731,253-3,810,116      Chr6-,NT_167248 3,521,694-3,600,524     
Chr6-,NT_167246 3,603,311-3,682,495      Chr6-,NT_167244 3,604,982-3,654,041      Chr6-,NT_167249 3,608,270-3,687,126     

(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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CF010_HUMAN, Q5SRN2 (See protein sequence)
Recommended Name: Uncharacterized protein C6orf10  
Size: 563 amino acids; 61626 Da
Secondary accessions: A2BET1 A2BET2 A6NME2 B0S7R2 B0S7R3 Q5SPI9 Q5SPJ0 Q5SPK9 Q5SPL0 Q5SRN3
Q5TG25 Q5TG26 Q8N4B6
Alternative splicing: 2 isoforms:  Q5SRN2-1   Q5SRN2-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for C6orf10: NX_Q5SRN2

Explore proteomics data for C6orf10 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See C6orf10 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001273403.1  NP_001273404.1  NP_006772.3  

    ENSEMBL proteins: 
     ENSP00000411164   ENSP00000415517   ENSP00000364155   ENSP00000431199   ENSP00000435103  
     ENSP00000432814   ENSP00000432566   ENSP00000364146  

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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: Q5SRN2


    (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, 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:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for C6orf10
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    2 qRT-PCR Assays for microRNAs that regulate C6orf10:
    hsa-miR-33a* hsa-miR-4307
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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
    CF010_HUMAN, Q5SRN2: Membrane; Multi-pass membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with C6orf10           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 C6orf10
    Interactions:

        Search GeneGlobe Interaction Network for C6orf10

    (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 C6orf10 (CF010)



    (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 C6orf10 gene (3 alternative transcripts): 
    NM_001286474.1  NM_001286475.1  NM_006781.4  

    Unigene Cluster for C6orf10:

    Chromosome 6 open reading frame 10
    Hs.567414  [show with all ESTs]
    Unigene Representative Sequence: BC034774
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000442822(uc011dpx.2) ENST00000447241(uc021yvs.1 uc021yvt.1)
    ENST00000375015(uc011dpz.2) ENST00000533191(uc021yvu.1 uc021yvv.1)
    ENST00000527965 ENST00000532023 ENST00000534588 ENST00000375007
    miRNA
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    2 qRT-PCR Assays for microRNAs that regulate C6orf10:
    hsa-miR-33a* hsa-miR-4307
    SwitchGear 3'UTR luciferase reporter plasmidC6orf10 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AK225742.1 AK302176.1 AK310230.1 BC034774.1 

    6 DOTS entries:

    DT.103888  DT.100743472  DT.99996483  DT.100743473  DT.121380749  DT.99961872 

    8 AceView cDNA sequences:

    AI935027 BV183550 AA629287 NM_006781 BC034774 BX113229 BI826769 AA936514 

    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™, 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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    C6orf10 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GATGAAGAAC
    C6orf10 Expression
    About this image

    C6orf10 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    C6orf10 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.567414
        Custom PCR Arrays for C6orf10
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C6orf10

    (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 C6orf10 gene from Selected species (see all 3)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 175 testis specific basic protein   --   syntenic -


    ENSEMBL Gene Tree for C6orf10 (if available)
    TreeFam Gene Tree for C6orf10 (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 C6orf10 (see all 1998)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1163297231,2
    C,F--32260060(+) AATCTT/GCCGTA 1 -- ds50011Minor allele frequency- G:0.11WA 118
    rs1142595691,2
    C,F--32260063(+) CTTCCG/ATAACA 1 -- ds50011Minor allele frequency- A:0.11WA 118
    rs1468120501,2
    --32260107(+) GACAGA/CCTTTA 1 -- ds50010--------
    rs5654481,2
    C,F,O,H--32260270(+) TTTTTG/CTAACT 1 -- ds500113Minor allele frequency- C:0.15NS EA NA WA CSA 912
    rs1397204491,2
    C--32260311(+) CATATA/GTCACT 1 -- ds50010--------
    rs1156079591,2
    C,F--32260326(+) ATGTTA/CTAAGC 1 -- ds50011Minor allele frequency- C:0.11WA 118
    rs69352691,2
    C,F,A,H--32260350(+) GAGCTT/CTGACT 1 -- ds500118Minor allele frequency- C:0.26NS EA NA CSA WA 2336
    rs1151586701,2
    C,F--32260534(+) CTTGAC/TGGAAT 1 -- ut311Minor allele frequency- T:0.02WA 118
    rs4821941,2
    C,F,A,H--32260559(-) TGTTTT/CATAAG 1 -- ut31 ese321Minor allele frequency- C:0.32MN NS EA NA WA 2660
    rs1380148831,2
    F--32261008(+) CTTTTA/GGTACA 2 P L mis11Minor allele frequency- G:0.00NA 4538

    HapMap Linkage Disequilibrium report for C6orf10 (32256303 - 32339684 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for C6orf10 (see all 20):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1081136CNV Deletion17803354
    esv3397CNV Deletion18987735
    esv2351738CNV Deletion18987734
    esv2731827CNV Deletion23290073
    esv2731826CNV Deletion23290073
    esv2569081CNV Deletion19546169
    esv2731828CNV Deletion23290073
    dgv6649n71CNV Loss21882294
    dgv6651n71CNV Loss21882294
    nsv830630CNV Loss17160897

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing C6orf10
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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.)
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    OMIM gene information: 612217    OMIM disorders: --


    Find genes that share disorders with C6orf10           About GenesLikeMe

    Genetic Association Database (GAD): C6orf10
    Human Genome Epidemiology (HuGE) Navigator: C6orf10 (14 documents)

    Export disorders for C6orf10 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)
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    PubMed articles for C6orf10 gene, integrated from 10 sources (see all 36):
    (articles sorted by number of sources associating them with C6orf10)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. BTL-II: a polymorphic locus with homology to the butyrophilin gene family, located at the border of the major histocompatibility complex class II and class III regions in human and mouse. (PubMed id 10803852)1, 3, 9 Stammers M.... Beck S. (Immunogenetics 2000)
    2. A genome-wide association study in progressive multiple sclerosis. (PubMed id 22457343)1, 4 Martinelli-Boneschi F....Comi G. (Mult. Scler. 2012)
    3. Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population. (PubMed id 21804548)1, 4 Hirota T....Tamari M. (Nat. Genet. 2011)
    4. Identification of independent risk loci for Graves' disease within the MHC in the Japanese population. (PubMed id 21900946)1, 4 Nakabayashi K....Shirasawa S. (J. Hum. Genet. 2011)
    5. A genome-wide study identifies HLA alleles associated with lumiracoxib-related liver injury. (PubMed id 20639878)1, 4 Singer J.B....Paulding C.A. (Nat. Genet. 2010)
    6. Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci. (PubMed id 20453842)1, 4 Stahl E.A....Plenge R.M. (Nat. Genet. 2010)
    7. Identification of a novel risk locus for multiple sclerosis at 13q31.3 by a pooled genome-wide scan of 500,000 single nucleotide polymorphisms. (PubMed id 18941528)1, 4 Comabella M....Martin R. (PLoS ONE 2008)
    8. Association of the TRAF1-C5 locus on chromosome 9 with juvenile idiopathic arthritis. (PubMed id 18576341)1, 4 Behrens E.M....Hakonarson H. (Arthritis Rheum. 2008)
    9. Multiple genetic loci for bone mineral density and fractures. (PubMed id 18445777)1, 4 Styrkarsdottir U....Stefansson K. (N. Engl. J. Med. 2008)
    10. 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. (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: 10665 HGNC: 13922 AceView: C6orf10 Ensembl:ENSG00000204296 euGenes: HUgn10665
    ECgene: C6orf10 H-InvDB: C6orf10

    (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 C6orf10 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 C6orf10 gene:
    Search GeneIP for patents involving C6orf10

    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, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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