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C2orf68 Gene

protein-coding   GIFtS: 42
GCID: GC02M085832

Chromosome 2 Open Reading Frame 68

  See C2orf68-related disease
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 681 2
HCRCN812
UPF0561 Protein C2orf682

External Ids:    HGNC: 343531   Entrez Gene: 3889692   Ensembl: ENSG000001688877   UniProtKB: Q2NKX93   

Export aliases for C2orf68 gene to outside databases

Previous GC identifers: GC02M085688 GC02M085729


(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 C2orf68 Gene:
C2orf68 (chromosome 2 open reading frame 68) is a protein-coding gene. Diseases associated with C2orf68 include colorectal adenocarcinoma.


(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 C2orf68 gene promoter:
         c-Fos   Elk-1   Pax-5   AP-1   JunB   Brachyury   Fra-1   FosB   JunD   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidC2orf68 promoter sequence
   Search Chromatin IP Primers for C2orf68

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C2orf68


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

Entrez Gene cytogenetic band: 2p11.2   Ensembl cytogenetic band:  2p11.2   HGNC cytogenetic band: 2p11.2

C2orf68 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C2orf68 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M085832:  view genomic region     (about GC identifiers)

Start:
85,832,376 bp from pter      End:
85,839,189 bp from pter
Size:
6,814 bases      Orientation:
minus 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: CB068_HUMAN, Q2NKX9 (See protein sequence)
Recommended Name: UPF0561 protein C2orf68  
Size: 166 amino acids; 18751 Da
Secondary accessions: B4DT10 Q4G0J7 Q6ZVA6
Alternative splicing: 2 isoforms:  Q2NKX9-1   Q2NKX9-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for C2orf68: NX_Q2NKX9

Explore proteomics data for C2orf68 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See C2orf68 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001013671.2  
    ENSEMBL proteins: 
     ENSP00000304410   ENSP00000401625   ENSP00000395730   ENSP00000386301  

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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:
     IPR018888 UPF0561

    Graphical View of Domain Structure for InterPro Entry Q2NKX9

    ProtoNet protein and cluster: Q2NKX9

    UniProtKB/Swiss-Prot: CB068_HUMAN, Q2NKX9
    Similarity: Belongs to the UPF0561 family


    Find genes that share domains with C2orf68           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 C2orf68:
     Increased HPV18 LCR reporter a  Increased cell number in S 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for C2orf68

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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

    (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 C2orf68
    Interactions:

        Search GeneGlobe Interaction Network for C2orf68

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for C2orf68 (ENSP000003044104) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ELAVL1ENSP000003852694STRING: ENSP00000385269
    About this table

    (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 C2orf68 (CB068)



    (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 C2orf68 gene: 
    NM_001013649.3  

    Unigene Cluster for C2orf68:

    Chromosome 2 open reading frame 68
    Hs.516159  [show with all ESTs]
    Unigene Representative Sequence: NM_001013649
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000306336(uc002sqc.2) ENST00000420686 ENST00000423181 ENST00000409734(uc002sqd.2)
    ENST00000478626
    miRNA
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    hsa-miR-3607-3p hsa-miR-607 hsa-miR-19b-2* hsa-miR-429 hsa-miR-4305 hsa-miR-759 hsa-miR-764 hsa-miR-124
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      QuantiFast Probe-based Assays in human, mouse, rat C2orf68

    Additional mRNA sequence: 

    AK092972.1 AK300003.1 AK311297.1 BC111483.1 JX960761.1 

    13 DOTS entries:

    DT.209055  DT.215855  DT.432023  DT.40275136  DT.405539  DT.40316334  DT.120979914  DT.120979887 
    DT.102842879  DT.120979851  DT.95158384  DT.101964299  DT.40206919 

    Selected AceView cDNA sequences (see all 186):

    AI197958 AI694971 AK092972 AI633815 AI123683 AW770660 BM850498 BF440050 
    BQ015556 N34888 BQ010693 BU071152 AW071507 AW770504 CA430503 BE218141 
    BE218830 AI783832 CA310867 AW612097 BX090065 BU071017 BI063047 CB152991 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for C2orf68    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c · 4d ^ 5 ^ 6a · 6b
    SP1:        -                 -     -     -     -                     
    SP2:                    -     -     -     -     -                     
    SP3:        -                                                         
    SP4:                    -                                             
    SP5:                          -                                       


    ECgene alternative splicing isoforms for C2orf68

    (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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    C2orf68 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAATGTTGAC
    C2orf68 Expression
    About this image

    C2orf68 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    C2orf68 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.516159
        Custom PCR Arrays for C2orf68
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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 C2orf68 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 0610030E20Rik1 , 5 RIKEN cDNA 0610030E20 gene1, 5 85.34(n)1
    83.13(a)1
      6 (32.27 cM)5
    683641  NM_026696.11  NP_080972.11 
     723473175 
    lizard
    (Anolis carolinensis)
    Reptilia C2orf686
    chromosome 2 open reading frame 68
    58(a)
    1 ↔ 1
    GL343608.1(123187-126837)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.193022 Xenopus laevis transcribed sequences 73.11(n)    BQ384221.1 
    zebrafish
    (Danio rerio)
    Actinopterygii si:ch211-283h6.41 si:ch211-283h6.4 59.13(n)
    54.79(a)
      100001127  NM_001114693.1  NP_001108165.1 


    ENSEMBL Gene Tree for C2orf68 (if available)
    TreeFam Gene Tree for C2orf68 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for C2orf68 gene
    1 SIMAP similar gene for C2orf68 using alignment to 3 protein entries:     CB068_HUMAN (see all proteins):
    HCRCN81

    Find genes that share paralogs with C2orf68           About GenesLikeMe



    (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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    2 SNPs for C2orf68    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1910103661,2
    --85738141(+) ATCCCA/GTCTCT 1 -- us2k10--------
    rs1827233691,2
    --85738310(+) GTCGCA/GGCTTA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for C2orf68 (85832376 - 85839189 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for C2orf68:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv4202n71CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing C2orf68
    DNA2.0 Custom Variant and Variant Library Synthesis for C2orf68

    (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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    1 disease for C2orf68:    
    About MalaCards
    colorectal adenocarcinoma


    Find genes that share disorders with C2orf68           About GenesLikeMe


    Export disorders for C2orf68 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 C2orf68 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with C2orf68)
        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. (Nat. Genet. 2004)
    2. NM_001013649.3 gene is down-regulated in human colorectal adenocarcinoma. (PubMed id 21874238)1 Jiang Q....Chen Y. (Mol Med Rep 2011)
    3. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (EMBO J. 2009)
    4. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PubMed id 15146197)1 Brandenberger R.... Stanton L.W. (Nat. Biotechnol. 2004)
    5. 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. (Genome Res. 2004)
    6. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (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: 388969 HGNC: 34353 AceView: LOC388969 Ensembl:ENSG00000168887 euGenes: HUgn388969
    ECgene: C2orf68 H-InvDB: C2orf68

    (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 C2orf68 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 C2orf68 gene:
    Search GeneIP for patents involving C2orf68

    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
    Advanced Cell Diagnostics, Animal models from genOway)
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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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