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

C2orf42 Gene

protein-coding   GIFtS: 41
GCID: GC02M070377          (predicted)

Chromosome 2 Open Reading Frame 42

  Search for C2orf42
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 2 Open Reading Frame 421 2
Uncharacterized Protein C2orf422

External Ids:    HGNC: 260561   Entrez Gene: 549802   Ensembl: ENSG000001159987   UniProtKB: Q9NWW73   

Export aliases for C2orf42 gene to outside databases

Previous GC identifers: GC02M070230 GC02M070113


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

GeneCards Summary for C2orf42 Gene: 
C2orf42 (chromosome 2 open reading frame 42) 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NT_022184.15  NC_018913.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C2orf42 gene promoter:
         STAT5B   GR   MyoD   STAT5A   E47   CBF-A   HFH-1   Hand1   GR-alpha   CBF(2)   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for C2orf42

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C2orf42


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

Entrez Gene cytogenetic band: 2p13.3   Ensembl cytogenetic band:  2p13.3   HGNC cytogenetic band: 2p14

C2orf42 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C2orf42 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M070377:  view genomic region     (about GC identifiers)

Start:
70,377,012 bp from pter      End:
70,475,747 bp from pter
Size:
98,736 bases      Orientation:
minus strand

(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: CB042_HUMAN, Q9NWW7 (See protein sequence)
Recommended Name: Uncharacterized protein C2orf42  
Size: 574 amino acids; 64077 Da
Secondary accessions: D6W5G3 Q9H629

Explore the universe of human proteins at neXtProt for C2orf42: NX_Q9NWW7

Explore proteomics data for C2orf42 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9NWW7

  • C2orf42 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    C2orf42 Protein Expression
    REFSEQ proteins: NP_060350.1  
    ENSEMBL proteins: 
     ENSP00000264434   ENSP00000404515   ENSP00000396751   ENSP00000407799   ENSP00000389921  
     ENSP00000391119   ENSP00000394401   ENSP00000388437   ENSP00000405955   ENSP00000399442  

    Human Recombinant Protein Products for C2orf42: 
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    Cloud-Clone Corp. Proteins for C2orf42 


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    LSBio Antibodies in human, mouse, rat for C2orf42 

    Assay Products for C2orf42: 
    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for C2orf42
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for C2orf42 
    Cloud-Clone Corp. CLIAs for C2orf42


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR026049 C2orf42

    Graphical View of Domain Structure for InterPro Entry Q9NWW7

    ProtoNet protein and cluster: Q9NWW7


    C2orf42 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,
    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

    Phenotypes:
         1 GenomeRNAi human phenotype for C2orf42:
     Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for C2orf42 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for C2orf42 
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    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidC2orf42 3' UTR sequence
    Inhib. RNA
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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 C2orf42

    (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 C2orf42 (CB042)

    Search CenterWatch for drugs/clinical trials and news about C2orf42 / CB042

    (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 C2orf42 gene: 
    NM_017880.1  

    Unigene Cluster for C2orf42:

    Chromosome 2 open reading frame 42
    Hs.720049  [show with all ESTs]
    Unigene Representative Sequence: AK000565
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000264434(uc002sgh.3) ENST00000420306 ENST00000447804 ENST00000417865
    ENST00000419381 ENST00000470096 ENST00000457952 ENST00000428010 ENST00000425268
    ENST00000428751 ENST00000417203 ENST00000495353 ENST00000487560 ENST00000464505

    miRNA
    Products:
         
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    8/14 QIAGEN miScript miRNA Assays for microRNAs that regulate C2orf42 (see all 14):
    hsa-miR-548p hsa-miR-19b-2* hsa-miR-15a hsa-miR-497 hsa-miR-545 hsa-miR-424 hsa-miR-19b-1* hsa-miR-19b
    SwitchGear 3'UTR luciferase reporter plasmidC2orf42 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for C2orf42
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat C2orf42
    Clone
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    OriGene ORF clones in mouse, rat for C2orf42
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: C2orf42 (NM_017880)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for C2orf42
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C2orf42
    Sirion Biotech Customized lentivirus for stable overexpression of C2orf42 
                         Customized lentivirus expression plasmids for stable overexpression of C2orf42 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for C2orf42
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat C2orf42
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C2orf42

    Additional mRNA sequence: 

    AK000565.1 AK026303.1 AL136834.1 BC002825.2 BC005079.1 

    10 DOTS entries:

    DT.454963  DT.120959503  DT.100778503  DT.95270497  DT.436131  DT.120959461  DT.120959511  DT.92421878 
    DT.120959536  DT.91743944 

    24/96 AceView cDNA sequences (see all 96):

    AI697954 NM_017880 BC005079 CA426723 AK000565 BX103963 BM728139 BM906820 
    CK904752 AI184248 AA701557 AL136834 CB852442 AA846075 BM069780 BM468630 
    BU624242 AL705573 BG253598 BQ719260 AI298362 BC002825 BP370505 BI828455 

    GeneLoc Exon Structure

    5/11 Alternative Splicing Database (ASD) splice patterns (SP) for C2orf42 (see all 11)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c · 8d · 8e · 8f · 8g · 8h ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^
    SP1:                    -     -     -     -     -     -     -                 -                                                                                 
    SP2:                    -     -     -     -                 -                 -                                                                                 
    SP3:                                -     -     -     -     -                 -                                                                                 
    SP4:                                -     -     -     -     -           -     -                                                                                 
    SP5:                                                  -     -                 -                                                                                 

    ExUns: 14 ^ 15
    SP1:            
    SP2:            
    SP3:            
    SP4:            
    SP5:            


    ECgene alternative splicing isoforms for C2orf42

    (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

    C2orf42 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGGCGGAGTA
    C2orf42 Expression
    About this image


    See C2orf42 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C2orf42

    SOURCE GeneReport for Unigene cluster: Hs.720049
        SABiosciences Custom PCR Arrays for C2orf42
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C2orf42

    (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 animals.

    Orthologs for C2orf42 gene from 5/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia C874361 , 5 expressed sequence C874361, 5 87.22(n)1
    91.64(a)1
      6 (37.69 cM)5
    2321961  NM_146170.41  NP_666282.31 
     864383745 
    chicken
    (Gallus gallus)
    Aves C22H2orf421 chromosome 22 open reading frame, human C2orf42 74.5(n)
    83.51(a)
      426298  NM_001195595.1  NP_001182524.1 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.158172 Transcribed sequence with moderate similarity to protein more 77.82(n)    142032095 
    zebrafish
    (Danio rerio)
    Actinopterygii si:ch211-127d4.31 si:ch211-127d4.3 58.32(n)
    57.11(a)
      560957  XM_684355.3  XP_689447.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG23216
    --
    20(a)
    1 ↔ 1
    3R(25312733-25315024)


    ENSEMBL Gene Tree for C2orf42 (if available)
    TreeFam Gene Tree for C2orf42 (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

    10/886 SNPs in C2orf42 are shown (see all 886)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1467897881,2
    Cuntested170387814(+) TATACA/G/TACCGT 2 R C mis11NA 4546
    rs1441307821,2
    --70376562(+) CTTTGC/TAATAA 1 -- int10--------
    rs43389861,2
    C,F,H--70376574(+) tcttgA/Ctactg 1 -- int11Minor allele frequency- C:0.00NA 2
    rs1394663071,2
    C--70376628(+) TCACCA/GCGAAG 1 -- int10--------
    rs43389871,2
    C,A,H--70376665(+) CGAGAT/CCACGA 1 -- int11Minor allele frequency- C:0.00NA 2
    rs1452427071,2
    --70376698(+) CTCCAA/GACGCG 1 -- int10--------
    rs1885223141,2
    --70376729(+) CTCACC/TGCGAA 1 -- int10--------
    rs45850581,2
    C,A,H--70376756(+) CCTGAA/GCCAGC 1 -- int10--------
    rs1433314851,2
    --70376782(+) CCAGAA/GGGAAG 1 -- int10--------
    rs1513099041,2
    C--70376794(+) AACTCC/TGAACG 1 -- int10--------

    HapMap Linkage Disequilibrium report for C2orf42 (70377012 - 70475747 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for C2orf42:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2671105CNV Deletion23128226
    nsv518294CNV Loss19592680


    Human Gene Mutation Database (HGMD): C2orf42
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing C2orf42
    DNA2.0 Custom Variant and Variant Library Synthesis for C2orf42

    (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

    C2orf42 for disorders           About MalaCards

    C2orf42 for disorders           About GeneDecksing


    Export disorders for C2orf42 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 C2orf42 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with C2orf42)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
    2. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (2012)
    3. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PubMed id 23251661)1 Comuzzie A.G....Butte N.F. (2012)
    4. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W....Wilson R.K. (2005)
    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. (2004)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)
    7. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)2 Wiemann S.... Poustka A. (2001)

    (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: 54980 HGNC: 26056 AceView: FLJ20558 Ensembl:ENSG00000115998 euGenes: HUgn54980
    ECgene: C2orf42 H-InvDB: C2orf42

    (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 C2orf42 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 C2orf42 gene:
    Search GeneIP for patents involving C2orf42

    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)
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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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