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

C6orf10 Gene

protein-coding   GIFtS: 44
GCID: GC06M032261

Chromosome 6 Open Reading Frame 10

  See related diseases
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 6 Open Reading Frame 101 2
Testis Specific Basic Protein1 2
TSBP2
Uncharacterized Protein C6orf102

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

Export aliases for C6orf10 gene to outside databases

Previous GC identifers: GC06M032287 GC06M032031 GC06M032332 GC06M032368


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

GeneCards Summary for C6orf10 Gene: 
C6orf10 (chromosome 6 open reading frame 10) is a protein-coding gene. Diseases associated with C6orf10 include vitiligo, and psoriasis.

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NT_007592.15  NT_113891.2  NT_167245.1  NT_167246.1  NT_167248.1  NT_167249.1  NC_018917.2  
NT_167244.1  NT_167247.1  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for C6orf10

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

6/7 alternative locations (see all 7):
Chr6-,NT_113891.2 3,731,253-3,810,116      Chr6-,NT_167247 3,670,160-3,719,241      Chr6-,NT_167245 3,539,722-3,618,578     
Chr6-,NT_167249 3,608,270-3,687,126      Chr6-,NT_167246 3,603,311-3,682,495      Chr6-,NT_167244 3,604,982-3,654,041     

(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: CF010_HUMAN, Q5SRN2 (See protein sequence)
Recommended Name: Uncharacterized protein C6orf10  
Size: 563 amino acids; 61626 Da
Subcellular location: Membrane; Multi-pass membrane protein (Potential)
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q5SRN2

  • C6orf10 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    C6orf10 Protein Expression
    REFSEQ proteins: NP_006772.3  
    ENSEMBL proteins: 
     ENSP00000411164   ENSP00000415517   ENSP00000364155   ENSP00000431199   ENSP00000435103  
     ENSP00000432814   ENSP00000432566   ENSP00000364146  

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    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral to membrane IEA--

    C6orf10 for ontologies           About GeneDecksing



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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: 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,
    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 C6orf10 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for C6orf10 
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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 C6orf10

    (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 C6orf10 (CF010)

    Search CenterWatch for drugs/clinical trials and news about 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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    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 C6orf10 gene: 
    NM_006781.3  

    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 QIAGEN miScript miRNA Assays for microRNAs that regulate C6orf10:
    hsa-miR-33a* hsa-miR-4307
    SwitchGear 3'UTR luciferase reporter plasmidC6orf10 3' UTR sequence
    Inhib. RNA
    Products:
         
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    Clone
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    Sirion Biotech Customized lentivirus for stable overexpression of C6orf10 
                         Customized lentivirus expression plasmids for stable overexpression of C6orf10 
    Primer
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C6orf10

    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 AA629287 BV183550 BC034774 BX113229 BI826769 NM_006781 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™, 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

    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


    See C6orf10 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C6orf10

    SOURCE GeneReport for Unigene cluster: Hs.567414
        SABiosciences Custom PCR Arrays for C6orf10
    Primer
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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)
    About This Section

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

    Orthologs for C6orf10 gene from 1/4 species (see all 4)    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)
    About This Section
      --

    (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

    10/1998 SNPs in C6orf10 are shown (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) 10/20 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

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    DNA2.0 Custom Variant and Variant Library Synthesis for C6orf10

    (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
    9 diseases for C6orf10:    About MalaCards
    vitiligo    psoriasis    type 1 diabetes    systemic lupus erythematosus
    multiple sclerosis    lupus erythematosus    asthma    rheumatoid arthritis
    arthritis


    C6orf10 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for C6orf10 gene, integrated from 9 sources (see all 33):
    (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. (2000)
    2. A genome-wide association study in progressive multipl e sclerosis. (PubMed id 22457343)1, 4 Martinelli-Boneschi F....Comi G. (2012)
    3. Genome-wide association study identifies three new sus ceptibility loci for adult asthma in the Japanese population. (PubMed id 21804548)1, 4 Hirota T....Tamari M. (2011)
    4. Identification of independent risk loci for Graves' di sease within the MHC in the Japanese population. (PubMed id 21900946)1, 4 Nakabayashi K....Shirasawa S. (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. (2010)
    6. Genome-wide association study meta-analysis identifie s seven new rheumatoid arthritis risk loci. (PubMed id 20453842)1, 4 Stahl E.A....Plenge R.M. (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. (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. (2008)
    9. Multiple genetic loci for bone mineral density and fractures. (PubMed id 18445777)1, 4 Styrkarsdottir U....Stefansson K. (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. (2004)

    (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: 10665 HGNC: 13922 AceView: C6orf10 Ensembl:ENSG00000204296 euGenes: HUgn10665
    ECgene: C6orf10 H-InvDB: C6orf10

    (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 C6orf10 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 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, 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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    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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