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C2orf16 Gene

protein-coding   GIFtS: 41
GCID: GC02P027799

Chromosome 2 Open Reading Frame 16

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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 161 2
P-S-E-R-S-H-H-S Repeats Containing1 2
Uncharacterized Protein C2orf162

External Ids:    HGNC: 252751   Entrez Gene: 842262   Ensembl: ENSG000002218437   UniProtKB: Q68DN13   

Export aliases for C2orf16 gene to outside databases

Previous GC identifers: GC02P027777 GC02P027714 GC02P027652 GC02P027541


(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 C2orf16 Gene:
C2orf16 (chromosome 2 open reading frame 16) 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  NC_018913.2  NT_022184.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the C2orf16 gene promoter:
         STAT5B   USF1   Sox5   AML1a   FOXD1   XBP-1   LCR-F1   Cdc5   PPAR-gamma1   PPAR-gamma2   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for C2orf16

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C2orf16


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

C2orf16 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C2orf16 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P027799:  view genomic region     (about GC identifiers)

Start:
27,799,389 bp from pter      End:
27,805,589 bp from pter
Size:
6,201 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: CB016_HUMAN, Q68DN1 (See protein sequence)
Recommended Name: Uncharacterized protein C2orf16  
Size: 1984 amino acids; 224321 Da
Sequence caution: Sequence=AAX93198.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: B9EIQ4 Q53S01 Q8ND64 Q9H088

Explore the universe of human proteins at neXtProt for C2orf16: NX_Q68DN1

Explore proteomics data for C2orf16 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See C2orf16 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_115642.3  
    ENSEMBL proteins: 
     ENSP00000386190  

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    antibodies-online kits for C2orf16 (2 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    ProtoNet protein and cluster: Q68DN1

    UniProtKB/Swiss-Prot: CB016_HUMAN, Q68DN1
    Domain: The P-S-E-R-S-H-H-S repeats give rise to an antiparallel beta-structure


    (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:
         1 GenomeRNAi human phenotype for C2orf16:
     Synthetic lethal with Ras 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for C2orf16

    miRNA
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    hsa-mir-335-5p (MIRT017385)

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    1 qRT-PCR Assays for microRNA that regulate C2orf16:
    hsa-miR-3180-3p
    SwitchGear 3'UTR luciferase reporter plasmidC2orf16 3' UTR sequence
    Inhib. RNA
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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

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0070062extracellular vesicular exosome IDA19056867

    Find genes that share ontologies with C2orf16           About GenesLikeMe


    (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 C2orf16
    Interactions:

        Search GeneGlobe Interaction Network for C2orf16

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

    1 Interacting protein for C2orf16 (Q68DN13 ENSP000003861904) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MYCP011063, ENSP000003672074I2D: score=1 STRING: ENSP00000367207
    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 C2orf16 (CB016)



    (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 C2orf16 gene: 
    NM_032266.3  

    Unigene Cluster for C2orf16:

    Chromosome 2 open reading frame 16
    Hs.131021  [show with all ESTs]
    Unigene Representative Sequence: CR749335
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000408964(uc002rkz.4)
    miRNA
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    1 qRT-PCR Assays for microRNA that regulate C2orf16:
    hsa-miR-3180-3p
    SwitchGear 3'UTR luciferase reporter plasmidC2orf16 3' UTR sequence
    Inhib. RNA
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      QuantiFast Probe-based Assays in human, mouse, rat C2orf16

    Additional mRNA sequence: 

    AL136898.1 AL834384.1 BC115376.1 BC115377.1 BC140828.1 CR749335.1 

    1 DOTS entry:

    DT.40128569 

    Selected AceView cDNA sequences (see all 195):

    AW016695 BM782796 NM_032434 BE891950 AI765343 AW769939 BX115888 BE047133 
    BQ478203 BX441286 BU782559 AA306083 AK074460 CD722360 BC015707 AI972990 
    AI887892 BG057669 T33419 BM669485 BG570919 BE220056 BU508484 BE669524 

    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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    C2orf16 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAACTGCTTT
    C2orf16 Expression
    About this image

    C2orf16 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    C2orf16 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.131021
        Custom PCR Arrays for C2orf16
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C2orf16

    (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 human and mouse.

    Orthologs for C2orf16 gene from Selected species (see all 5)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gm176955
    LOC1026359901
    predicted gene, 176955
    uncharacterized LOC1026359901
    68.68(n)1
    49.39(a)1
      5 (13.80 cM)5
    1026359901  XM_006514360.11  XP_006514423.11 


    ENSEMBL Gene Tree for C2orf16 (if available)
    TreeFam Gene Tree for C2orf16 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for C2orf16 gene

    Find genes that share paralogs with C2orf16           About GenesLikeMe


    2 Pseudogenes.org Pseudogenes for C2orf16
    PGOHUM00000240606 PGOHUM00000240607


    (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 C2orf16 (see all 219)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1887726511,2
    --27797395(+) CAGTTC/TTGGAC 1 -- us2k10--------
    rs1399694611,2
    --27797398(+) TTCTGC/GACAAC 1 -- us2k10--------
    rs1932958851,2
    --27797499(+) AAAGCA/GAAAAA 1 -- us2k10--------
    rs1498295141,2
    --27797524(+) TCAGGA/GAACAA 1 -- us2k10--------
    rs1457995381,2
    C--27797548(+) TAAATA/CTGTAG 1 -- us2k10--------
    rs1145995041,2
    C,F--27797570(+) GGTCTA/GAAGTT 1 -- us2k11Minor allele frequency- G:0.05WA 118
    rs67083151,2
    C--27797644(+) GTTCAA/GCTCGG 1 -- us2k10--------
    rs1489559391,2
    C--27797717(+) AAATCG/TATGGA 1 -- us2k10--------
    rs748890241,2
    C--27797734(+) TTCTGG/TATCAC 1 -- us2k10--------
    rs1465749621,2
    --27797777(+) CCAGCA/GACAAA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for C2orf16 (27799389 - 27805589 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for C2orf16:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv817684CNV Gain17921354

    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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    Find genes that share disorders with C2orf16           About GenesLikeMe

    Genetic Association Database (GAD): C2orf16

    Export disorders for C2orf16 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 C2orf16 gene, integrated from 10 sources (see all 12):
    (articles sorted by number of sources associating them with C2orf16)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium. (PubMed id 21386085)1, 4 Kraja A.T....Borecki I.B. (Diabetes 2011)
    2. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W.... Wilson R.K. (Nature 2005)
    3. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2 Wiemann S.... Poustka A. (Genome Res. 2001)
    4. Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium. (PubMed id 23362303)1 Wu J.H....Mozaffarian D. (Circ Cardiovasc Genet 2013)
    5. Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci. (PubMed id 23505323)1 Weissglas-Volkov D....Pajukanta P. (J. Med. Genet. 2013)
    6. Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. (PubMed id 22001757)1 Chambers J.C....Kooner J.S. (Nat. Genet. 2011)
    7. Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels. (PubMed id 20705733)1 O'Seaghdha C.M....KAPttgen A. (Hum. Mol. Genet. 2010)
    8. Large-scale proteomics and phosphoproteomics of urinary exosomes. (PubMed id 19056867)1 Gonzales P.A....Knepper M.A. (J. Am. Soc. Nephrol. 2009)
    9. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (BMC Genomics 2007)
    10. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1 Olsen J.V....Mann M. (Cell 2006)

    (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: 84226 HGNC: 25275 AceView: C2orf16andZNF512 Ensembl:ENSG00000221843 euGenes: HUgn84226
    ECgene: C2orf16 H-InvDB: C2orf16

    (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 C2orf16 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 C2orf16 gene:
    Search GeneIP for patents involving C2orf16

    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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