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C2orf78 Gene

protein-coding   GIFtS: 31
GCID: GC02P074011          (predicted)

Chromosome 2 Open Reading Frame 78

  Search for C2orf78
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 2 Open Reading Frame 781 2
COG53732
hCG19895382
Uncharacterized Protein C2orf782

External Ids:    HGNC: 343491   Entrez Gene: 3889602   Ensembl: ENSG000001878337   UniProtKB: A6NCI83   

Export aliases for C2orf78 gene to outside databases

Previous GC identifers: GC02P073864 GC02P073745


(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 C2orf78 Gene:
C2orf78 (chromosome 2 open reading frame 78) 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_000002.12  NT_022184.16  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the C2orf78 gene promoter:
         FOXI1   HFH-3   RFX1   E2F-1   E2F   Evi-1   C/EBPalpha   Hlf   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for C2orf78

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C2orf78


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

Entrez Gene cytogenetic band: 2p13.1   Ensembl cytogenetic band:  2p13.1   HGNC cytogenetic band: 2p13.2

C2orf78 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C2orf78 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P074011:  view genomic region     (about GC identifiers)

Start:
74,011,316 bp from pter      End:
74,044,274 bp from pter
Size:
32,959 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: CB078_HUMAN, A6NCI8 (See protein sequence)
Recommended Name: Uncharacterized protein C2orf78  
Size: 922 amino acids; 100170 Da

Explore the universe of human proteins at neXtProt for C2orf78: NX_A6NCI8

Explore proteomics data for C2orf78 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See C2orf78 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001073943.1  
    ENSEMBL proteins: 
     ENSP00000387124  

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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:
     IPR027898 DUF4629

    Graphical View of Domain Structure for InterPro Entry A6NCI8

    ProtoNet protein and cluster: A6NCI8


    C2orf78 for domains           About GeneDecksing


    (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 GenomeRNAi human phenotype for C2orf78:
     Low eccentricity cells 

    Animal Models:
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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
    nucleus2

    (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 C2orf78
    Interactions:

        Search GeneGlobe Interaction Network for C2orf78

    (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 C2orf78 (CB078)



    (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 C2orf78 gene: 
    NM_001080474.1  

    Unigene Cluster for C2orf78:

    Chromosome 2 open reading frame 78
    Hs.456833  [show with all ESTs]
    Unigene Representative Sequence: NM_001080474
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000409561(uc002sjr.1)
    miRNA
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      QuantiFast Probe-based Assays in human, mouse, rat C2orf78

    Additional mRNA sequence: AK125975.1 

    2 DOTS entries:

    DT.100675509  DT.97822637 

    4 AceView cDNA sequences:

    AK125975 AL705389 AL705427 CD359692 

    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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    C2orf78 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAGAGAAAGG
    C2orf78 Expression
    About this image

    C2orf78 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    C2orf78 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.456833
        Custom PCR Arrays for C2orf78
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    In Situ
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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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      --

    ENSEMBL Gene Tree for C2orf78 (if available)
    TreeFam Gene Tree for C2orf78 (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 C2orf78 (see all 363)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1883936641,2
    --74009322(+) TGTAGC/TCCAGG 1 -- us2k10--------
    rs1139474611,2
    C,F--74009356(+) GAATGG/CCTTGA 1 -- us2k11Minor allele frequency- C:0.50CSA 2
    rs586604741,2
    --74009405(+) CATTGC/GACTCC 1 -- us2k10--------
    rs1424749291,2
    --74009442(+) TATCAC/TGAAAT 1 -- us2k10--------
    rs729154711,2
    C,F--74009606(+) GCTTAC/GACTTT 1 -- us2k12Minor allele frequency- G:0.02WA 120
    rs1912981831,2
    --74009631(+) ACACAA/GCATTG 1 -- us2k10--------
    rs1156722321,2
    F--74009634(+) CAACAT/CTGGGG 1 -- us2k11Minor allele frequency- C:0.03WA 118
    rs1835283451,2
    --74009661(+) TATAGC/TTGACA 1 -- us2k10--------
    rs1904517821,2
    --74009695(+) AATAGA/GGTTCC 1 -- us2k10--------
    rs1161609501,2
    C,F--74009712(+) GTAACC/AAGACA 1 -- us2k11Minor allele frequency- A:0.07WA 118

    HapMap Linkage Disequilibrium report for C2orf78 (74011316 - 74044274 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for C2orf78 (see all 11):    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv15n31CNV Duplication19718026
    nsv508842CNV Insertion20534489
    nsv2781CNV Insertion18451855
    nsv2780CNV Loss18451855
    nsv482051CNV Gain20164927
    nsv834260CNV Gain17160897
    esv28264CNV Gain+Loss19812545
    nsv10024CNV Gain+Loss18304495
    essv105CNV CNV17122850
    nsv511053CNV Complex20534489

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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 C2orf78 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with C2orf78)
        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)2 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: 388960 HGNC: 34349 AceView: LOC388960 Ensembl:ENSG00000187833 euGenes: HUgn388960
    ECgene: C2orf78 H-InvDB: C2orf78

    (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 C2orf78 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 C2orf78 gene:
    Search GeneIP for patents involving C2orf78

    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
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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