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C2orf70 Gene

protein-coding   GIFtS: 37
GCID: GC02P026785          (predicted)

Chromosome 2 Open Reading Frame 70

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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 2 Open Reading Frame 701 2
Hypothetical Protein LOC3397781
UPF0573 Protein C2orf702

External Ids:    HGNC: 279381   Entrez Gene: 3397782   Ensembl: ENSG000001735577   UniProtKB: A6NJV13   

Export aliases for C2orf70 gene to outside databases

Previous GC identifers: GC02P026638 GC02P026524


(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 C2orf70 Gene:
C2orf70 (chromosome 2 open reading frame 70) 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 at NCBI GenBank:
NC_000002.11  NT_022184.16  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the C2orf70 gene promoter:
         RFX1   p53   POU3F2   HNF-1A   Meis-1b   HSF2   Meis-1a   ZIC2/Zic2   Meis-1   RSRFC4   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for C2orf70

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C2orf70


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

Entrez Gene cytogenetic band: 2p23.3   Ensembl cytogenetic band:  2p23.3   HGNC cytogenetic band: 2p23.3

C2orf70 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C2orf70 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P026785:  view genomic region     (about GC identifiers)

Start:
26,785,450 bp from pter      End:
26,802,400 bp from pter
Size:
16,951 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: CB070_HUMAN, A6NJV1 (See protein sequence)
Recommended Name: UPF0573 protein C2orf70  
Size: 201 amino acids; 23421 Da

Explore the universe of human proteins at neXtProt for C2orf70: NX_A6NJV1

Explore proteomics data for C2orf70 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See C2orf70 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001098989.1  
    ENSEMBL proteins: 
     ENSP00000332875   ENSP00000386615   ENSP00000395924  

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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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    1 InterPro protein domain:
     IPR018902 UPF0573/UPF0605

    Graphical View of Domain Structure for InterPro Entry A6NJV1

    ProtoNet protein and cluster: A6NJV1

    UniProtKB/Swiss-Prot: CB070_HUMAN, A6NJV1
    Similarity: Belongs to the UPF0573 family


    Find genes that share domains with C2orf70           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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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    Phenotypes:
         2 GenomeRNAi human phenotypes for C2orf70:
     Decreased viability of wild-ty  Increased S DNA content 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for C2orf70

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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 COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    cytosol1
    peroxisome1

    (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 C2orf70
    Interactions:

        Search GeneGlobe Interaction Network for C2orf70

    (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 C2orf70 (CB070)



    (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 C2orf70 gene: 
    NM_001105519.1  

    Unigene Cluster for C2orf70:

    Chromosome 2 open reading frame 70
    Hs.407083  [show with all ESTs]
    Unigene Representative Sequence: AK091483
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000329615(uc010eyn.3) ENST00000409392 ENST00000479453 ENST00000453368

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    Additional mRNA sequence: AK091483.1 

    2 DOTS entries:

    DT.210401  DT.91953578 

    23 AceView cDNA sequences:

    AI125455 AX747015 AA725022 AK091483 BX114846 AA431363 AA609698 AI023484 
    AA994248 AA432361 AW082275 AW448928 BF591162 AA758869 AA577292 AA759197 
    AI911006 AF281038 AW362072 AI829675 AA778539 AA905348 AI215954 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for C2orf70    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6
    SP1:        -                       -         
    SP2:              -                           


    ECgene alternative splicing isoforms for C2orf70

    (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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    C2orf70 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGACTTTTAG
    C2orf70 Expression
    About this image


    C2orf70 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Testis (Reproductive System)
             Mature Sertoli Cells Seminiferous Tubules
    C2orf70 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    C2orf70 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.407083
        Custom PCR Arrays for C2orf70
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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 chordates.

    Orthologs for C2orf70 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 1700001C02Rik1 , 5 RIKEN cDNA 1700001C02 gene1, 5 77(n)1
    68.5(a)1
      5 (16.57 cM)5
    754341  NM_029285.11  NP_083561.11 
     304660475 
    chicken
    (Gallus gallus)
    Aves C3H2ORF701 chromosome 3 open reading frame, human C2orf70 64.47(n)
    58.49(a)
      422006  XM_420014.2  XP_420014.1 
    lizard
    (Anolis carolinensis)
    Reptilia C2orf706
    chromosome 2 open reading frame 70
    61(a)
    1 ↔ 1
    GL343824.1(42556-68292)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia c2orf701 chromosome 2 open reading frame 70 62.25(n)
    50.99(a)
      100124944  NM_001102884.1  NP_001096354.1 
    zebrafish
    (Danio rerio)
    Actinopterygii si:ch211-198b3.41 si:ch211-198b3.4 53.79(n)
    43.18(a)
      100149329  XM_001923808.2  XP_001923843.2 


    ENSEMBL Gene Tree for C2orf70 (if available)
    TreeFam Gene Tree for C2orf70 (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 C2orf70 (see all 479)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1447521431,2
    Cuntested126800443(+) GTCCCC/TTACTT 2 P syn10--------
    rs1508026481,2
    --26783599(+) ATGTGC/TTACCA 1 -- us2k10--------
    rs1829264131,2
    --26783691(+) TGATCC/TGCCTG 1 -- us2k10--------
    rs1886715281,2
    --26783712(+) CCAAAA/GTGCTG 1 -- us2k10--------
    rs75643331,2
    C--26783778(+) CTTCTA/GTTACC 1 -- us2k112Minor allele frequency- G:0.00NA WA CSA EA 374
    rs1932342011,2
    --26783824(+) ACATTA/TACTGA 1 -- us2k10--------
    rs789026811,2
    F--26783833(+) GAATTC/TTTTCC 1 -- us2k11Minor allele frequency- T:0.02WA 118
    rs1158243471,2
    F--26783850(+) AGGTGC/GTGAGA 1 -- us2k11Minor allele frequency- G:0.01WA 118
    rs1391334341,2
    --26783873(+) TATGAC/TATGGA 1 -- us2k10--------
    rs75644541,2
    C,F,A,H--26783886(+) GCACAA/GGATCC 1 -- us2k129Minor allele frequency- G:0.08NS EA NA WA CSA 2362

    HapMap Linkage Disequilibrium report for C2orf70 (26785450 - 26802400 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for C2orf70:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv517800CNV Loss19592680
    esv33316CNV Loss17666407

    Site Specific Mutation Identification with PCR Assays
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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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      --

    (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 C2orf70 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with C2orf70)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W.... Wilson R.K. (Nature 2005)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (Nat. Genet. 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: 339778 HGNC: 27938 AceView: LOC339778 Ensembl:ENSG00000173557 euGenes: HUgn339778
    ECgene: C2orf70 H-InvDB: C2orf70

    (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 C2orf70 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 C2orf70 gene:
    Search GeneIP for patents involving C2orf70

    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, eBioscience, antibodies-online, 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
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     Browse SwitchGear 3'UTR luciferase reporter plasmids for C2orf70
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     Browse compounds at ApexBio
     Search Addgene for plasmids for C2orf70
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      eBioscience FlowRNA Probe Sets
     genOway: Develop your customized and physiologically relevant rodent model for C2orf70
     antibodies-online antibodies for C2orf70
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

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