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

C6orf70 Gene

protein-coding   GIFtS: 41
GCID: GC06P170151

chromosome 6 open reading frame 70

 Explore 3 diseases affiliated with
C6orf70 via our new
 Human Malady Compendium 
Biological research products
for C6orf70
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Chromosome 6 Open Reading Frame 701 2
DJ266L20.31
FLJ111521
Transmembrane Protein C6orf702

External Ids:    HGNC: 210561   Entrez Gene: 557802   Ensembl: ENSG000001300237   UniProtKB: Q5T6L93   

Export aliases for C6orf70 gene to outside databases

Previous GC identifers: GC00U914259 GC06P169909 GC06P169969 GC06P167571


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

  --

(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_000006.11  NC_018917.1  NT_025741.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C6orf70 gene promoter:
         Sox5   RP58   AML1a   FOXD3   Cdc5   FOXJ2 (long isoform)   FOXO4   FOXJ2   RSRFC4   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for C6orf70

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C6orf70


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

Entrez Gene cytogenetic band: 6q27   Ensembl cytogenetic band:  6q27   HGNC cytogenetic band: 6q27

C6orf70 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C6orf70 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P170151:  view genomic region     (about GC identifiers)

Start:
170,151,718 bp from pter      End:
170,181,680 bp from pter
Size:
29,963 bases      Orientation:
plus strand

(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: CF070_HUMAN, Q5T6L9 (See protein sequence)
Recommended Name: Transmembrane protein C6orf70  
Size: 678 amino acids; 77788 Da
Subcellular location: Membrane; Multi-pass membrane protein (Potential)
Sequence caution: Sequence=AAH44812.1; Type=Erroneous termination; Positions=679; Note=Translated as stop;
Sequence=BAA91653.1; Type=Erroneous initiation;
Secondary accessions: Q3ZCS8 Q5T6L8 Q9NUT5 Q9NVU2
Alternative splicing: 3 isoforms:  Q5T6L9-1   Q5T6L9-2   Q5T6L9-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for C6orf70: NX_Q5T6L9

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q5T6L9

  • C6orf70 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_060811.1  
    ENSEMBL proteins: 
     ENSP00000468722   ENSP00000466474   ENSP00000355734   ENSP00000466679   ENSP00000467582  
     ENSP00000375945   ENSP00000355735   ENSP00000468124   ENSP00000397661   ENSP00000467665  
     ENSP00000468240   ENSP00000466335  

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    Uscn Proteins for C6orf70

    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--


    C6orf70 for ontologies           About GeneDecksing



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

    C6orf70 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR025209 DUF4209

    Graphical View of Domain Structure for InterPro Entry Q5T6L9

    ProtoNet protein and cluster: Q5T6L9


    (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 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 C6orf70

    (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
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for C6orf70
    Search CenterWatch for drugs/clinical trials and news about C6orf70 / CF070 

    (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,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for C6orf70 gene: 
    NM_018341.1  

    Unigene Cluster for C6orf70:

    Chromosome 6 open reading frame 70
    Hs.47546  [show with all ESTs]
    Unigene Representative Sequence: NM_018341
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000592367 ENST00000590711 ENST00000366772(uc010kky.1) ENST00000592745
    ENST00000592315 ENST00000392095 ENST00000366773(uc003qxg.1 uc011ehb.1)
    ENST00000592580 ENST00000586341 ENST00000418781(uc003qxh.1) ENST00000588437
    ENST00000588451 ENST00000590017 ENST00000366771(uc003qxi.1) ENST00000492738
    ENST00000477995

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    Additional cDNA sequence: 

    AK001369.1 AK002014.1 AK021520.1 AK294090.1 BC044812.1 

    12 DOTS entries:

    DT.209783  DT.100754682  DT.100754681  DT.91745368  DT.97841109  DT.97841110  DT.102824350  DT.40233433 
    DT.97801942  DT.121377624  DT.95284955  DT.121377621 

    24/67 AceView cDNA sequences (see all 67):

    BE645867 AI270699 BQ447071 AA765149 AI089187 BM715916 AI078788 AI082584 
    BX119479 AI087800 BQ446447 AI522177 BM909202 AW385335 BQ008434 AK002014 
    BU633029 BM852869 AK001369 AA610587 BF380791 CA396814 BC044812 BI016164 

    GeneLoc Exon Structure

    5/9 Alternative Splicing Database (ASD) splice patterns (SP) for C6orf70 (see all 9)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19a · 19b ^
    SP1:                          -                                               -                       -                             -                           
    SP2:                          -                                               -                       -                                   -     -               
    SP3:                          -                                               -                       -                             -     -     -               
    SP4:                                                                                                  -                             -                           
    SP5:                                                                                                  -                             -                           

    ExUns: 20a · 20b
    SP1:            
    SP2:            
    SP3:            
    SP4:            
    SP5:            


    ECgene alternative splicing isoforms for C6orf70

    (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

    C6orf70 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AGTATCAGCA

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

    About this image
    See C6orf70 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C6orf70

    SOURCE GeneReport for Unigene cluster: Hs.47546
        SABiosciences Custom PCR Arrays for C6orf70
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C6orf70

    (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 chordates.

    Orthologs for C6orf70 gene from 3/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 2210404J11Rik1 , 5 RIKEN cDNA 2210404J11 gene1, 5 76.15(n)1
    70.26(a)1
      17 (8.95 cM)5
    3810621  NM_001039552.21  NP_001034641.21 
     150416415 
    chicken
    (Gallus gallus)
    Aves C3H6orf701 chromosome 3 open reading frame, human C6orf70 65.71(n)
    59.48(a)
      421553  XM_419594.3  XP_419594.2 
    lizard
    (Anolis carolinensis)
    Reptilia C6orf706
    --
    65(a)
    1 ↔ 1
    1(223705804-223715183)


    ENSEMBL Gene Tree for C6orf70 (if available)
    TreeFam Gene Tree for C6orf70 (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, 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

    10/574 NCBI SNPs in C6orf70 are shown (see all 574    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs22749531,2
    C,F,H,--170153702(-) GTCTAT/GGGGGT 1 -- int115Minor allele frequency- G:0.08NS EA WA NA 2022
    rs1415363781,2
    --170153712(+) CAGAGC/TAGTTT 1 -- int10--------
    rs617368201,2
    C,F,--170153962(+) TAGGTA/CTTAAT 2 V syn14Minor allele frequency- C:0.02NS CSA WA NA 2770
    rs1877255321,2
    C,--170154124(+) ACAGAC/GTCAGG 2 D E mis10--------
    rs1925302861,2
    C,--170154164(+) ATAACG/TGTCCC 1 -- int10--------
    rs778464841,2
    --170154219(+) GTTCCA/TTTTGT 1 -- int10--------
    rs1837719011,2
    --170154277(+) ATGTGA/TAAAGA 1 -- int10--------
    rs1151082241,2
    F,--170154355(+) GAGGAG/AGTGTC 1 -- int11Minor allele frequency- A:0.02WA 118
    rs1393189301,2
    C,--170154389(+) GCTGT-/TGATGATG 1 -- int10--------
    rs47163911,2
    C,F,A,H,--170154506(+) TTCTTG/ACACAC 1 -- int112Minor allele frequency- A:0.33NS EA NA WA CSA 787

    HapMap Linkage Disequilibrium report for C6orf70 (170151718 - 170181680 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for C6orf70
         2 CNVs: 94258 99817

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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.)
    About This Section

    C6orf70 for disorders           About GeneDecksing

    3 diseases for C6orf70:    About MalaCards
    visceral leishmaniasis    leishmaniasis    choroiditis

    1 disease from the University of Copenhagen DISEASES database for C6orf70:
    Visceral leishmaniasis

    Export disorders for C6orf70 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 C6orf70 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with C6orf70)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    3. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)2 Mungall A.J.... Beck S. (2003)
    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)
    5. Expressed sequence tag analysis of human RPE/choroid for the NEIBank project: over 6000 non-redundant transcripts, novel genes and splice variants. (PubMed id 12107410)1 Wistow G.... Peterson K. (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: 55780 HGNC: 21056 AceView: C6orf70 Ensembl:ENSG00000130023 euGenes: HUgn55780
    ECgene: C6orf70 H-InvDB: C6orf70

    (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 C6orf70 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 C6orf70 gene:
    Search GeneIP for patents involving C6orf70

    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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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
    About This Section

     
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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
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