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C3orf20 Gene

protein-coding   GIFtS: 41
GCID: GC03P014716

Chromosome 3 Open Reading Frame 20

  Search for C3orf20
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 3 Open Reading Frame 201 2
Uncharacterized Protein C3orf202

External Ids:    HGNC: 253201   Entrez Gene: 840772   Ensembl: ENSG000001313797   UniProtKB: Q8ND613   

Export aliases for C3orf20 gene to outside databases

Previous GC identifer: GC03P014692


(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 C3orf20 Gene:
C3orf20 (chromosome 3 open reading frame 20) 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_000003.11  NT_022517.19  NC_018914.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the C3orf20 gene promoter:
         POU2F2 (Oct-2.1)   Oct-B1   oct-B2   oct-B3   POU2F2   GATA-2   Nkx6-1   POU2F1   POU2F1a   POU2F2B   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for C3orf20

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C3orf20


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

Entrez Gene cytogenetic band: 3p25.1   Ensembl cytogenetic band:  3p25.1   HGNC cytogenetic band: 3p25.1

C3orf20 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C3orf20 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P014716:  view genomic region     (about GC identifiers)

Start:
14,716,606 bp from pter      End:
14,814,543 bp from pter
Size:
97,938 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., 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: CC020_HUMAN, Q8ND61 (See protein sequence)
Recommended Name: Uncharacterized protein C3orf20  
Size: 904 amino acids; 101266 Da
Secondary accessions: Q7L0U6 Q8NCP2 Q9H0I7
Alternative splicing: 2 isoforms:  Q8ND61-1   Q8ND61-2   

Explore the universe of human proteins at neXtProt for C3orf20: NX_Q8ND61

Explore proteomics data for C3orf20 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See C3orf20 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001171886.1  NP_001171887.1  NP_115513.4  

    ENSEMBL proteins: 
     ENSP00000253697   ENSP00000402933   ENSP00000396081  

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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: Q8ND61


    (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 C3orf20
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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 UniProtKB/Swiss-Prot
    CC020_HUMAN, Q8ND61: Membrane; Single-pass membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    nucleus2
    endoplasmic reticulum1
    golgi apparatus1
    mitochondrion1
    plasma membrane1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with C3orf20           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 C3orf20
    Interactions:

        Search GeneGlobe Interaction Network for C3orf20

    (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 C3orf20 (CC020)



    (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 C3orf20 gene (3 alternative transcripts): 
    NM_001184957.1  NM_001184958.1  NM_032137.4  

    Unigene Cluster for C3orf20:

    Chromosome 3 open reading frame 20
    Hs.661452  [show with all ESTs]
    Unigene Representative Sequence: BC038406
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000253697(uc003byx.2 uc003byy.3 uc003byz.3 uc003bza.3)
    ENST00000435614 ENST00000412910(uc003bzb.1 uc011avj.2) ENST00000495387

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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C3orf20
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      QuantiTect SYBR Green Assays in human, mouse, rat C3orf20
      QuantiFast Probe-based Assays in human, mouse, rat C3orf20

    Additional mRNA sequence: 

    AL136781.1 AL834386.1 BC030599.2 BC038406.1 

    4 DOTS entries:

    DT.100019184  DT.91662650  DT.102822562  DT.40275161 

    14 AceView cDNA sequences:

    BU734887 AV728682 BG718869 AA486119 AA486059 BI832014 BI831619 BC038406 
    AL136781 NM_032137 BC030599 AK131481 AL834386 BI544667 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for C3orf20    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18
    SP1:                    -     -                                                                                             
    SP2:        -                                                                                                               
    SP3:                                                                                                                        


    ECgene alternative splicing isoforms for C3orf20

    (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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    C3orf20 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GACGACAAGG
    C3orf20 Expression
    About this image


    C3orf20 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
    C3orf20 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    C3orf20 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.661452
        Custom PCR Arrays for C3orf20
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    In Situ
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    (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 chordates.

    Orthologs for C3orf20 gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 4930590J08Rik1 , 5 RIKEN cDNA 4930590J08 gene1, 5 74.24(n)1
    66.07(a)1
      6 (40.94 cM)5
    3817981  NM_198668.21  NP_941070.11 
     919147595 
    lizard
    (Anolis carolinensis)
    Reptilia C3orf206
    chromosome 3 open reading frame 20
    35(a)
    1 ↔ 1
    2(170382823-170409461)


    ENSEMBL Gene Tree for C3orf20 (if available)
    TreeFam Gene Tree for C3orf20 (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 C3orf20 (see all 2154)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1845004491,2
    --14714708(+) GAAAGA/GGTAGA 3 -- us2k10--------
    rs1413880281,2
    --14714731(+) GGGCAC/TGGTGG 3 -- us2k10--------
    rs76176241,2
    C,F,A,H--14714857(+) aattaC/Gccagg 3 -- us2k13Minor allele frequency- G:0.33NA WA 6
    rs76395221,2
    C,F,A,H--14714860(+) tagccG/Aggcgt 3 -- us2k13Minor allele frequency- A:0.33NA WA 6
    rs76395251,2
    C,F,A,H--14714872(+) gtggcG/Aggtgc 3 -- us2k19Minor allele frequency- A:0.25NA WA CSA 20
    rs76292761,2
    C--14714972(+) cactcC/Tagcct 3 -- us2k10--------
    rs106712281,2
    C--14715004(+) aaaaaAAA/-aaaaa 3 -- cds1 trp31Minor allele frequency- -:0.00NA 2
    rs1152794831,2
    C--14715021(+) AAAAAA/CAATGA 3 -- us2k10--------
    rs119281231,2
    C,H--14715100(+) GAGTAG/TAAAGG 3 -- us2k1 trp34Minor allele frequency- T:0.00NS EA 402
    rs1902421611,2
    --14715116(+) GGAGAC/GAGAGA 3 -- us2k10--------

    HapMap Linkage Disequilibrium report for C3orf20 (14716606 - 14814543 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for C3orf20 (see all 12):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2724959CNV Deletion23290073
    esv2671265CNV Deletion23128226
    esv2667245CNV Deletion23128226
    esv2724945CNV Deletion23290073
    esv2658697CNV Deletion23128226
    nsv507082CNV Insertion20534489
    nsv520162CNV Loss19592680
    nsv876576CNV Loss21882294
    nsv508210CNV Loss20534489
    esv33420CNV Gain17666407

    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 C3orf20           About GenesLikeMe

    Genetic Association Database (GAD): C3orf20
    Human Genome Epidemiology (HuGE) Navigator: C3orf20 (1 document)

    Export disorders for C3orf20 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 C3orf20 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with C3orf20)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2, 3 Wiemann S.... Poustka A. (Genome Res. 2001)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    3. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (J. Biol. Chem. 2011)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    5. The LIFEdb database in 2006. (PubMed id 16381901)1 Mehrle A....Wiemann S. (Nucleic Acids Res. 2006)
    6. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
    7. From ORFeome to biology: a functional genomics pipeline. (PubMed id 15489336)1 Wiemann S....Poustka A. (Genome Res. 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. Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing. (PubMed id 11256614)1 Simpson J.C.... Wiemann S. (EMBO Rep. 2000)
    10. DNA cloning using in vitro site-specific recombination. (PubMed id 11076863)1 Hartley J.L....Brasch M.A. (Genome Res. 2000)

    (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: 84077 HGNC: 25320 AceView: DKFZP434N1817 Ensembl:ENSG00000131379 euGenes: HUgn84077
    ECgene: C3orf20 H-InvDB: C3orf20

    (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 C3orf20 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 C3orf20 gene:
    Search GeneIP for patents involving C3orf20

    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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