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C20orf194 Gene

protein-coding   GIFtS: 44
GCID: GC20M003226

Chromosome 20 Open Reading Frame 194

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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 20 Open Reading Frame 1941 2
Uncharacterized Protein C20orf1942

External Ids:    HGNC: 177211   Entrez Gene: 259432   Ensembl: ENSG000000888547   OMIM: 6141465   UniProtKB: Q5TEA33   

Export aliases for C20orf194 gene to outside databases

Previous GC identifer: GC20M003179


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for C20orf194 Gene:
This gene encodes an uncharacterized protein with a C-terminal coiled-coil region. The gene is located on
chromosome 20p13 in a 1.8 Mb region linked to a spinocerebellar ataxia phenotype, but this gene does not appear
to be a disease candidate. (provided by RefSeq, Dec 2011)

GeneCards Summary for C20orf194 Gene:
C20orf194 (chromosome 20 open reading frame 194) is a protein-coding gene.

UniProtKB/Swiss-Prot: CT194_HUMAN, Q5TEA3
Function: May act as an effector for ARL3




(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_000020.10  NT_011387.9  NC_018931.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the C20orf194 gene promoter:
         Egr-3   TBP   RelA   NF-kappaB   Evi-1   AREB6   POU2F1   POU2F1a   NF-kappaB1   ATF   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for C20orf194

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C20orf194


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

Entrez Gene cytogenetic band: 20p13   Ensembl cytogenetic band:  20p13   HGNC cytogenetic band: 20p13

C20orf194 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C20orf194 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20M003226:  view genomic region     (about GC identifiers)

Start:
3,229,948 bp from pter      End:
3,388,272 bp from pter
Size:
158,325 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., 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: CT194_HUMAN, Q5TEA3 (See protein sequence)
Recommended Name: Uncharacterized protein C20orf194  
Size: 1177 amino acids; 132287 Da
Subunit: Interacts with ARL3
Secondary accessions: Q66K86 Q6P2R9 Q9UFX9

Explore the universe of human proteins at neXtProt for C20orf194: NX_Q5TEA3

Explore proteomics data for C20orf194 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See C20orf194 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001009984.1  
    ENSEMBL proteins: 
     ENSP00000252032   ENSP00000407229  

    C20orf194 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for C20orf194

     
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    antibodies-online peptides for C20orf194

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    antibodies-online antibodies for C20orf194 (17 products) 

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    Cloud-Clone Corp. ELISAs for C20orf194
    Cloud-Clone Corp. CLIAs for C20orf194
    Search eBioscience for ELISAs for C20orf194 
    antibodies-online kits for C20orf194 (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: Q5TEA3


    (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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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CT194_HUMAN, Q5TEA3
    Function: May act as an effector for ARL3

    Animal Models:

       genOway: Develop your customized and physiologically relevant rodent model for C20orf194

    miRNA
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    miRTarBase miRNAs that target C20orf194:
    hsa-mir-335-5p (MIRT016857), hsa-mir-21-5p (MIRT030665)

    Block miRNA regulation of human, mouse, rat C20orf194 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate C20orf194 (see all 115):
    hsa-miR-194* hsa-miR-199a-3p hsa-miR-4272 hsa-miR-128 hsa-miR-1304 hsa-miR-4325 hsa-miR-509-3-5p hsa-miR-564
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    Predesigned siRNA for gene silencing in human, mouse, rat C20orf194

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    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for C20orf194
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C20orf194

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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
    cytosol1
    endoplasmic reticulum1
    mitochondrion1
    peroxisome1

    (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 C20orf194
    Interactions:

        Search GeneGlobe Interaction Network for C20orf194

    (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 C20orf194 (CT194)



    (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 C20orf194 gene: 
    NM_001009984.2  

    Unigene Cluster for C20orf194:

    Chromosome 20 open reading frame 194
    Hs.516853  [show with all ESTs]
    Unigene Representative Sequence: NM_001009984
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000252032(uc002wij.3 uc002wik.2 uc002wii.2 uc010gay.1)
    ENST00000498079 ENST00000453730
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate C20orf194 (see all 115):
    hsa-miR-194* hsa-miR-199a-3p hsa-miR-4272 hsa-miR-128 hsa-miR-1304 hsa-miR-4325 hsa-miR-509-3-5p hsa-miR-564
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat C20orf194
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat C20orf194
      QuantiTect SYBR Green Assays in human, mouse, rat C20orf194
      QuantiFast Probe-based Assays in human, mouse, rat C20orf194

    Additional mRNA sequence: 

    AK226100.1 AK310540.1 AL110249.1 BC041916.1 BC064352.1 BC080528.1 BC106086.1 BC122529.1 

    12 DOTS entries:

    DT.114274  DT.100661373  DT.100680546  DT.100647836  DT.40313465  DT.95075373  DT.95174869  DT.120798101 
    DT.95268158  DT.92025523  DT.92051855  DT.95358615 

    Selected AceView cDNA sequences (see all 185):

    AI823880 BU617968 F11115 BM051373 AI692295 BE298807 AW663724 BM698165 
    AI498144 R46490 CD743064 CR626597 BX282119 BI019912 BE205813 AI265825 
    AI241717 AI383620 AA988210 AI369619 BU735963 BU684737 BE220286 BC064352 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for C20orf194    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22a · 22b ^ 23 ^ 24 ^
    SP1:                                                                                      -                 -                                                   
    SP2:                                                                                                                                                            
    SP3:                                                                                                              -     -                                       
    SP4:                                                                                                        -                                                   

    ExUns: 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34
    SP1:                                                            
    SP2:                                                            
    SP3:                                                            
    SP4:                                                            


    ECgene alternative splicing isoforms for C20orf194

    (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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    C20orf194 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTAAGGACCA
    C20orf194 Expression
    About this image

    C20orf194 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    C20orf194 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.516853
        Custom PCR Arrays for C20orf194
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C20orf194

    (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 C20orf194 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 4930402H24Rik1 , 5 RIKEN cDNA 4930402H24 gene1, 5 86.64(n)1
    85.19(a)1
      2 (63.25 cM)5
    2286021  NM_029432.11  NP_083708.11 
     1307062005 
    chicken
    (Gallus gallus)
    Aves C4H20ORF1941 chromosome 4 open reading frame, human C20orf194 74.71(n)
    76.98(a)
      422945  XM_420883.4  XP_420883.3 
    lizard
    (Anolis carolinensis)
    Reptilia C20orf1946
    chromosome 20 open reading frame 194
    74(a)
    1 ↔ 1
    GL343301.1(972369-1097432)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004866851 chromosome unknown open reading frame, human C20orf194 67.16(n)
    66.2(a)
      100486685  XM_002936365.2  XP_002936411.2 
    zebrafish
    (Danio rerio)
    Actinopterygii si:ch211-194c3.51 si:ch211-194c3.5 59.32(n)
    53.7(a)
      556058  NM_001145562.1  NP_001139034.1 


    ENSEMBL Gene Tree for C20orf194 (if available)
    TreeFam Gene Tree for C20orf194 (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 C20orf194 (see all 3709)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs756151941,2
    C,F--3177805(+) GTATAA/GAGTAG 1 -- int13Minor allele frequency- G:0.11NA WA 240
    rs1911473761,2
    C--3177884(+) TCCTAC/GTACAG 1 -- int10--------
    rs96536311,2
    C,F,H--3178111(+) CTAGGG/TAGGGA 1 -- int18Minor allele frequency- T:0.12NS EA WA CSA 654
    rs1833212431,2
    --3178233(+) ACAGGA/CATCGT 1 -- int10--------
    rs1501350171,2
    C--3178383(+) TTACTA/GAATTA 1 -- ut310--------
    rs1385749221,2
    --3178414(+) GATAAC/GCAAAA 1 -- ut310--------
    rs779437811,2
    C,F--3178458(+) TACAGT/CAGTGT 1 -- ut311Minor allele frequency- C:0.03EA 120
    rs1875751411,2
    --3178540(+) TGGCAC/TGTAAG 1 -- ut310--------
    rs786508131,2
    C,F--3178541(+) GGCACG/ATAAGT 1 -- ut311Minor allele frequency- A:0.04WA 118
    rs1928458931,2
    --3178657(+) AATACA/TTCGTA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for C20orf194 (3229948 - 3388272 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for C20orf194:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2660318CNV Deletion23128226
    esv2671132CNV Deletion23128226
    esv2722119CNV Deletion23290073
    esv2675063CNV Deletion23128226
    esv2722118CNV Deletion23290073
    esv269444CNV Insertion20981092
    nsv179045CNV Loss16902084
    dgv4520n71CNV Loss21882294
    esv24766CNV Loss19812545
    nsv833898CNV Gain+Loss17160897

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing C20orf194
    DNA2.0 Custom Variant and Variant Library Synthesis for C20orf194

    (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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    OMIM gene information: 614146    OMIM disorders: --


    Find genes that share disorders with C20orf194           About GenesLikeMe

    Genetic Association Database (GAD): C20orf194
    Human Genome Epidemiology (HuGE) Navigator: C20orf194 (1 document)

    Export disorders for C20orf194 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 C20orf194 gene, integrated from 10 sources (see all 15):
    (articles sorted by number of sources associating them with C20orf194)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genome-wide association study of interferon-related cytopenia in chronic hepatitis C patients. (PubMed id 21703177)1, 4 Thompson A.J....Muir A.J. (J. Hepatol. 2012)
    2. Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement. (PubMed id 21683323)1, 2 Kobayashi H.... Koizumi A. (Am. J. Hum. Genet. 2011)
    3. 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)
    4. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (Nature 2001)
    5. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    6. Quantitative analysis of HSP90-client interactions reveals principles of substrate recognition. (PubMed id 22939624)1 Taipale M....Lindquist S. (Cell 2012)
    7. An ARL3-UNC119-RP2 GTPase cycle targets myristoylated NPHP3 to the primary cilium. (PubMed id 22085962)2 Wright K.J.... Jackson P.K. (Genes Dev. 2011)
    8. 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)
    9. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (Proc. Natl. Acad. Sci. U.S.A. 2008)
    10. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (BMC Genomics 2007)

    (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: 25943 HGNC: 17721 AceView: C20orf194 Ensembl:ENSG00000088854 euGenes: HUgn25943
    ECgene: C20orf194 H-InvDB: C20orf194

    (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 C20orf194 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 C20orf194 gene:
    Search GeneIP for patents involving C20orf194

    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
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