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C18orf56 Gene

protein-coding   GIFtS: 40
GCID: GC18M000640

Chromosome 18 Open Reading Frame 56

  Search for C18orf56
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 18 Open Reading Frame 561 2
Putative Uncharacterized Protein C18orf562

External Ids:    HGNC: 295531   Entrez Gene: 4945142   Ensembl: ENSG000001769127   UniProtKB: Q8TAI13   

Export aliases for C18orf56 gene to outside databases

Previous GC identifer: GC18U900223


(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 C18orf56 Gene:
C18orf56 (chromosome 18 open reading frame 56) 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_000018.10  NC_018929.2  NT_010859.15  
Regulatory elements:
   Regulatory transcription factor binding sites in the C18orf56 gene promoter:
         AML1a   p53   Egr-1   RREB-1   Ik-2   POU2F1   POU2F1a   aMEF-2   MRF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidC18orf56 promoter sequence
   Search Chromatin IP Primers for C18orf56

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C18orf56


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

Entrez Gene cytogenetic band: 18p11.32   Ensembl cytogenetic band:  18p11.32   HGNC cytogenetic band: 18p11.32

C18orf56 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C18orf56 gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18M000640:  view genomic region     (about GC identifiers)

Start:
641,320 bp from pter      End:
658,340 bp from pter
Size:
17,021 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CR056_HUMAN, Q8TAI1 (See protein sequence)
Recommended Name: Putative uncharacterized protein C18orf56  
Size: 123 amino acids; 13402 Da
Secondary accessions: A8K1S1

Explore the universe of human proteins at neXtProt for C18orf56: NX_Q8TAI1

Explore proteomics data for C18orf56 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See C18orf56 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001012734.2  
    ENSEMBL proteins: 
     ENSP00000463397   ENSP00000316465  

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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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    ProtoNet protein and cluster: Q8TAI1


    (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, 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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    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for C18orf56
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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
    mitochondrion2
    cytosol1
    extracellular1
    nucleus1

    (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 C18orf56
    Interactions:

        Search GeneGlobe Interaction Network for C18orf56

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    3 Interacting proteins for C18orf56 (Q8TAI12, 3 ENSP000003164654) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MDFIQ997502, 3, ENSP000002303214MINT-66236 I2D: score=3 STRING: ENSP00000230321
    PRNPP041563I2D: score=1 
    --ENSP000003687484STRING: ENSP00000368748
    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 C18orf56 (CR056)

    3 PharmGKB related drug/compound annotations for C18orf56 gene    About this table
    Drug/compound PharmGKB Annotation
    methotrexateCA  
    pemetrexedCA  
    raltitrexedCA  



    Find genes that share compounds with C18orf56           About GenesLikeMe



    (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 C18orf56 gene: 
    NM_001012716.2  

    Unigene Cluster for C18orf56:

    Chromosome 18 open reading frame 56
    Hs.274959  [show with all ESTs]
    Unigene Representative Sequence: BI754401
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000585033 ENST00000323813(uc002kkr.3)
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    Additional mRNA sequence: 

    AK289986.1 BC028301.1 

    4 DOTS entries:

    DT.209162  DT.121095554  DT.111185  DT.100743389 

    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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    C18orf56 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GATATTCTTA
    C18orf56 Expression
    About this image

    C18orf56 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    C18orf56 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.274959
        Custom PCR Arrays for C18orf56
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C18orf56

    (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 chimp.

    Orthologs for C18orf56 gene from 1 species (see representative species )    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chimpanzee
    (Pan troglodytes)
    Mammalia C18orf566
    chromosome 18 open reading frame 56
    95(a)
    1 ↔ 1
    18(16059803-16068415)


    ENSEMBL Gene Tree for C18orf56 (if available)
    TreeFam Gene Tree for C18orf56 (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 C18orf56 (see all 100)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs110812341,2
    C,F,A,H--650816(+) TGCATG/ATATTT 1 -- int123Minor allele frequency- A:0.32NS EA NA WA CSA 2349
    rs1386194861,2
    --650848(+) CAGCCA/GTTGAT 1 -- int10--------
    rs784332671,2
    C,F--650860(+) GACACG/TTGGGT 1 -- int11Minor allele frequency- T:0.50WA 2
    rs1816034941,2
    --650967(+) ACATAC/TGTATT 1 -- int10--------
    rs116642831,2
    C,F,A,H--650968(+) CATACG/ATATTT 1 -- int123Minor allele frequency- A:0.36NS EA NA WA CSA 2348
    rs1851136501,2
    --651020(+) TAATTC/TGGACC 1 -- int10--------
    rs4835991,2
    --651087(-) ATACTC/GTCATT 1 -- int10--------
    rs664839371,2
    C--651091(+) AGAGTA/GTATAC 1 -- int15Minor allele frequency- G:0.19NA CSA WA EA 361
    rs1393474051,2
    C--651135(+) GCCAGA/GCACGG 1 -- int10--------
    rs713529621,2
    C,F--651179(+) GCCAAG/CGTGGG 1 -- int12Minor allele frequency- C:0.50NA 4

    HapMap Linkage Disequilibrium report for C18orf56 (641320 - 658340 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for C18orf56:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2662618CNV Deletion23128226
    esv29026CNV Loss19812545
    nsv909289CNV Loss21882294
    nsv528169CNV Loss19592680
    nsv909288CNV Loss21882294
    nsv909287CNV Gain21882294
    nsv833577CNV Gain+Loss17160897

    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 C18orf56           About GenesLikeMe

    Human Genome Epidemiology (HuGE) Navigator: C18orf56 (4 documents)

    Export disorders for C18orf56 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 C18orf56 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with C18orf56)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1 Bailey S.D....Anand S. (Diabetes Care 2010)
    2. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)1 Talmud P.J.... . (Am. J. Hum. Genet. 2009)
    3. Protein microarray analysis identifies human cellular prion protein interactors. (PubMed id 18482256)1 Satoh J....Tabunoki H. (Neuropathol. Appl. Neurobiol. 2009)
    4. Towards a proteome-scale map of the human protein-protein interaction network. (PubMed id 16189514)1 Rual J.F....Vidal M. (Nature 2005)
    5. DNA sequence and analysis of human chromosome 18. (PubMed id 16177791)2 Nusbaum C.... Lander E.S. (Nature 2005)
    6. 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)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. 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)
    9. Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1 Bonaldo M.F.... Soares M.B. (Genome Res. 1996)

    (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: 494514 HGNC: 29553 Ensembl:ENSG00000176912 euGenes: HUgn494514 ECgene: C18orf56
    H-InvDB: C18orf56

    (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 C18orf56 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 C18orf56 gene:
    Search GeneIP for patents involving C18orf56

    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, eBioscience, 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 inGenious Targeting Laboratory, genOway)
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