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

C3orf56 Gene

protein-coding   GIFtS: 34
GCID: GC03P126911

chromosome 3 open reading frame 56
  Search for C3orf56
in
MalaCards
our new
 Human Malady Compendium 
Biological research products
for C3orf56    

Aliases
for C3orf56 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Chromosome 3 Open Reading Frame 561 2
FLJ401411

External Ids:    HGNC: 324811   Entrez Gene: 2853112   Ensembl: ENSG000002143247   UniProtKB: Q8N8133   

Export aliases for C3orf56 gene to outside databases

Previous GC identifers: GC03P128396 GC03P124290


Summaries
for C3orf56 gene

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

Genomic Views
for C3orf56 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NT_005612.16  NC_018914.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C3orf56 gene promoter:
         LHX3b/Lhx3b   Pbx1a   FOXD1   Nkx2-5   CUTL1   E47   S8   LHX3a/Lhx3a   Hand1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for C3orf56

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C3orf56


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

Entrez Gene cytogenetic band: 3q21.3   Ensembl cytogenetic band:  3q21.3   HGNC cytogenetic band: 3q21.3

C3orf56 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C3orf56 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P126911:  view genomic region     (about GC identifiers)

Start:
 126,911,974 bp from pter      End:
 126,917,025 bp from pter
Size:
 5,052 bases      Orientation:
 plus strand

Proteins
for C3orf56 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: CC056_HUMAN, Q8N813 (See protein sequence)
Recommended Name: Putative uncharacterized protein C3orf56  
Size: 242 amino acids; 26007 Da
Secondary accessions: B2RNW5

Explore the universe of human proteins at neXtProt for C3orf56: NX_Q8N813

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8N813

    • C3orf56 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).


    ENSEMBL proteins: 
     ENSP00000381182  

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    Uscn ELISAs and CLIAs for C3orf56

    Protein Domains /
    Families
    for C3orf56 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ProtoNet protein and cluster: Q8N813


    Function
    for C3orf56 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    miRNA
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    1 GenomeRNAi human phenotype for C3orf56:
     Decreased p24 protein expressi 


    Pathways & Interactions
    for C3orf56 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for C3orf56

    Drugs & Compounds
    for C3orf56 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 C3orf56
    Search CenterWatch for drugs/clinical trials and news about C3orf56 / CC056 

    Transcripts
    for C3orf56 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for C3orf56 gene: 
    NM_001007534.1  

    Unigene Cluster for C3orf56:

    Chromosome 3 open reading frame 56
    Hs.591284  [show with all ESTs]
    Unigene Representative Sequence: AK097460
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000398112(uc003eji.1)

    miRNA
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    Inhib. RNA
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    Primer
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    Additional cDNA sequence: 

    AK097460.1 BC137154.1 BC137155.1 XR_108480.1 XR_112539.1 XR_171405.1 

    1 DOTS entry:

    DT.75171965 

    1 AceView cDNA sequence:

    AK097460 

    GeneLoc Exon Structure


    Expression
    for C3orf56 gene

    (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

    C3orf56 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CTTTTAAAAA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    C3orf56 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    OvaryAntral FollicleSecondary OocyteFemale Gametocytes, Germ Cells
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See C3orf56 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C3orf56

    SOURCE GeneReport for Unigene cluster: Hs.591284
        SABiosciences Custom PCR Arrays for C3orf56
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    In Situ
    Assay Products:     
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    Orthologs
    for C3orf56 gene

    (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
    		   --

    ENSEMBL Gene Tree for C3orf56 (if available)
    TreeFam Gene Tree for C3orf56 (if available) 

    Paralogs
    for C3orf56 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for C3orf56 gene

    C3orf56 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for C3orf56
    PGOHUM00000247157 PGOHUM00000237754


    Genomic Variants
    for C3orf56 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/119 NCBI SNPs in C3orf56 are shown (see all 119)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 3 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1122892721,2
    		C,--124289648(+) TCCACC/TGCACT 1 -- us2k11Minor allele frequency- T:0.50NA 2
    rs776914781,2
    		F--124289992(+) AAGGCG/ACAATG 1 -- us2k11Minor allele frequency- A:0.33NA 6
    rs783005621,2
    		F--124289995(+) GCGCAA/CTGTCA 1 -- us2k11Minor allele frequency- C:0.33NA 6
    rs748219271,2
    		F,--124290255(+) TAAACG/ATTAGG 1 -- us2k11Minor allele frequency- A:0.02NA 120
    rs117072481,2
    		C,F,H,--124290849(+) ATTCCC/GGTAAA 1 -- us2k15Minor allele frequency- G:0.03NS EA NA 538
    rs796082241,2
    		C,F,--124290850(+) TTCCCG/ATAAAA 1 -- us2k11Minor allele frequency- A:0.07NA 120
    rs64390391,2
    		C,F,A,H,--124290896(+) TGAGGC/TCTCCA 1 -- us2k116Minor allele frequency- T:0.14NS EA NA WA CSA 1891
    rs67671071,2
    		C,--124291198(+) GCTTCC/TCTTGC 1 -- int10--------
    rs1145753771,2
    		C,F,--124291650(+) TGGAAC/TATTTT 1 -- int11Minor allele frequency- T:0.02WA 118
    rs801949701,2
    		F,--124292495(+) TCCTAC/TGGGCA 1 -- int11Minor allele frequency- T:0.02WA 118

    HapMap Linkage Disequilibrium report for C3orf56 (126911974 - 126917025 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for C3orf56: --

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for C3orf56

    Disorders / Diseases
    for C3orf56 gene

    (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.)
    About This Section
    C3orf56 for disorders           About MalaCards

    C3orf56 for disorders           About GeneDecksing

    Human Genome Epidemiology (HuGE) Navigator: C3orf56 (1 document)

    Export disorders for C3orf56 gene to outside databases

    Publications
    for C3orf56 gene

    (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 C3orf56 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with C3orf56)    		    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, 3 Ota T.... Sugano S. (2004)
    2. 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)
    3. 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. (2002)

    External Searches for C3orf56 gene

    (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)

    Genome Databases showing C3orf56 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 285311 HGNC: 32481 AceView: LOC285311 Ensembl:ENSG00000214324 euGenes: HUgn285311
    ECgene: C3orf56 H-InvDB: C3orf56

    Other Databases showing C3orf56 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing C3orf56 gene

    (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 C3orf56 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for C3orf56 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for C3orf56 gene:
    Search GeneIP for patents involving C3orf56

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

     
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