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

C2orf16 Gene

protein-coding   GIFtS: 39
GCID: GC02P027799

Chromosome 2 Open Reading Frame 16

  Search for C2orf16
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 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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.2  NT_022184.15  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for C2orf16

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: 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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q68DN1

  • C2orf16 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    C2orf16 Protein Expression
    REFSEQ proteins: NP_115642.3  
    ENSEMBL proteins: 
     ENSP00000386190  

    Human Recombinant Protein Products for C2orf16: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    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, 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 C2orf16:
     Synthetic lethal with Ras 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for C2orf16 
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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 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 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 C2orf16 (CB016)

    Search CenterWatch for drugs/clinical trials and news about 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,
    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 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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    Inhib. RNA
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    Additional mRNA sequence: 

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

    1 DOTS entry:

    DT.40128569 

    24/195 AceView cDNA sequences (see all 195):

    BE675109 BE669524 AA292267 BX490393 NM_032266 T33419 AI765343 AK074460 
    CK826128 AA987715 AI768018 NM_032434 AW016695 AW769939 BE220056 AI372713 
    BM717631 CR749335 BQ215308 BX115888 CD652891 BC043221 BU782559 AI887892 

    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™, 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

    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


    See C2orf16 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C2orf16

    SOURCE GeneReport for Unigene cluster: Hs.131021
        SABiosciences 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)
    About This Section

    This gene was present in the common ancestor of human and mouse.

    Orthologs for C2orf16 gene from 1/5 species (see all 5)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gm176955
    Gm174341
    predicted gene, 176955
    predicted gene, 174341
    68.94(n)1
    48.72(a)1
      5 (13.80 cM)5
    1005038031  XM_003085506.11  XP_003085554.11 
     279714365 


    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)
    About This Section
    Paralogs for C2orf16 gene

    C2orf16 for paralogs           About GeneDecksing


    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) 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

    10/219 SNPs in C2orf16 are shown (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
    ----------
    VAR_0313214
    ----see VAR_0313212 H Y mis40--------
    VAR_0313234
    ----see VAR_0313232 S P mis40--------
    VAR_0313204
    ----see VAR_0313202 S F mis40--------
    VAR_0313224
    ----see VAR_0313222 N S mis40--------
    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

    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

    SABiosciences Cancer Mutation PCR Assays
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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.)
    About This Section

    C2orf16 for disorders           About MalaCards

    C2orf16 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for C2orf16 gene, integrated from 9 sources (see all 11):
    (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 syndrom e: STAMPEED consortium. (PubMed id 21386085)1, 4 Kraja A.T....Borecki I.B. (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. (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. (2001)
    4. Genome-wide association study identifies novel loci as sociated with concentrations of four plasma phospholipid fatty acids in the de n ovo lipogenesis pathway: results from the Cohorts for Heart and Aging Research i n Genomic Epidemiology (CHARGE) consortium. (PubMed id 23362303)1 Wu J.H....Mozaffarian D. (2013)
    5. Genomic study in Mexicans identifies a new locus for t riglycerides and refines European lipid loci. (PubMed id 23505323)1 Weissglas-Volkov D....Pajukanta P. (2013)
    6. Genome-wide association study identifies loci influenc ing concentrations of liver enzymes in plasma. (PubMed id 22001757)1 Chambers J.C....Kooner J.S. (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. (2010)
    8. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    9. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1 Olsen J.V....Mann M. (2006)
    10. 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)

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

    (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 C2orf16 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 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, 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
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    About This Section

     
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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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    (GIFtS: 73)
    transforming growth factor, beta 1
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