Human Gene C20orf194 (uc002wii.3)
  Description: Homo sapiens chromosome 20 open reading frame 194 (C20orf194), mRNA.
RefSeq Summary (NM_001009984): 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]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. There are no human full-length transcripts representing this exon combination; it is predicted based on aligning partial transcripts and on full-length transcript support from mouse GeneID:228602.
Transcript (Including UTRs)
   Position: hg19 chr20:3,229,948-3,388,309 Size: 158,362 Total Exon Count: 37 Strand: -
Coding Region
   Position: hg19 chr20:3,233,218-3,388,204 Size: 154,987 Coding Exon Count: 37 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr20:3,229,948-3,388,309)mRNA (may differ from genome)Protein (1177 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
neXtProtOMIMPubMedUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CT194_HUMAN
DESCRIPTION: RecName: Full=Uncharacterized protein C20orf194;
FUNCTION: May act as an effector for ARL3.
SUBUNIT: Interacts with ARL3.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): C20orf194
CDC HuGE Published Literature: C20orf194
Positive Disease Associations: Hepatitis C, Chronic
Related Studies:
  1. Hepatitis C, Chronic
    Alexander J Thompson et al. Journal of hepatology 2012, Genome-wide association study of interferon-related cytopenia in chronic hepatitis C patients., Journal of hepatology. [PubMed 21703177]
    Two ITPA variants were associated with thrombocytopenia; this was largely explained by a thrombocytotic response to RBV-induced HA attenuating IFN-related thrombocytopenia. No genetic determinants of pegIFN-induced neutropenia were identified.

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 11.85 RPKM in Brain - Nucleus accumbens (basal ganglia)
Total median expression: 372.13 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -33.80105-0.322 Picture PostScript Text
3' UTR -1196.973270-0.366 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  ModBase Predicted Comparative 3D Structure on Q5TEA3
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
  Ensembl   
  Protein Sequence   
  Alignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding

Biological Process:
GO:0008150 biological_process

Cellular Component:
GO:0005575 cellular_component


-  Descriptions from all associated GenBank mRNAs
  AK226100 - Homo sapiens mRNA for chromosome 20 open reading frame 194 variant, clone: fj18843.
AL110249 - Homo sapiens mRNA; cDNA DKFZp434N061 (from clone DKFZp434N061); partial cds.
AK303375 - Homo sapiens cDNA FLJ50097 complete cds.
BC122529 - Homo sapiens chromosome 20 open reading frame 194, mRNA (cDNA clone MGC:141683 IMAGE:40012183), complete cds.
AK023919 - Homo sapiens cDNA FLJ13857 fis, clone THYRO1001003, weakly similar to UBIQUITIN-CONJUGATING ENZYME E2-21.2 KD (EC 6.3.2.19).
BC041916 - Homo sapiens chromosome 20 open reading frame 194, mRNA (cDNA clone IMAGE:5299984).
JD242372 - Sequence 223396 from Patent EP1572962.
JD236717 - Sequence 217741 from Patent EP1572962.
JD509818 - Sequence 490842 from Patent EP1572962.
JD208112 - Sequence 189136 from Patent EP1572962.
JD270655 - Sequence 251679 from Patent EP1572962.
JD524418 - Sequence 505442 from Patent EP1572962.
JD168334 - Sequence 149358 from Patent EP1572962.
JD513376 - Sequence 494400 from Patent EP1572962.
JD400906 - Sequence 381930 from Patent EP1572962.
JD174487 - Sequence 155511 from Patent EP1572962.
JD555699 - Sequence 536723 from Patent EP1572962.
JD297904 - Sequence 278928 from Patent EP1572962.
JD120237 - Sequence 101261 from Patent EP1572962.
JD378762 - Sequence 359786 from Patent EP1572962.
JD341913 - Sequence 322937 from Patent EP1572962.
JD265549 - Sequence 246573 from Patent EP1572962.
JD191133 - Sequence 172157 from Patent EP1572962.
JD045497 - Sequence 26521 from Patent EP1572962.
JD337918 - Sequence 318942 from Patent EP1572962.
JD439405 - Sequence 420429 from Patent EP1572962.
JD263288 - Sequence 244312 from Patent EP1572962.
BC106086 - Homo sapiens chromosome 20 open reading frame 194, mRNA (cDNA clone IMAGE:6189246), complete cds.
BC064352 - Homo sapiens chromosome 20 open reading frame 194, mRNA (cDNA clone IMAGE:4443844), partial cds.
BC080528 - Homo sapiens chromosome 20 open reading frame 194, mRNA (cDNA clone IMAGE:4589057), partial cds.
JD046358 - Sequence 27382 from Patent EP1572962.
JD451335 - Sequence 432359 from Patent EP1572962.
JD450297 - Sequence 431321 from Patent EP1572962.
JD230594 - Sequence 211618 from Patent EP1572962.
JD469630 - Sequence 450654 from Patent EP1572962.
JD236302 - Sequence 217326 from Patent EP1572962.
JD094203 - Sequence 75227 from Patent EP1572962.
JD477552 - Sequence 458576 from Patent EP1572962.
JD080550 - Sequence 61574 from Patent EP1572962.
JD107141 - Sequence 88165 from Patent EP1572962.
JD297427 - Sequence 278451 from Patent EP1572962.
JD550474 - Sequence 531498 from Patent EP1572962.
JD501221 - Sequence 482245 from Patent EP1572962.
JD190225 - Sequence 171249 from Patent EP1572962.
JD064996 - Sequence 46020 from Patent EP1572962.
JD459345 - Sequence 440369 from Patent EP1572962.
JD198734 - Sequence 179758 from Patent EP1572962.
JD082530 - Sequence 63554 from Patent EP1572962.
JD317988 - Sequence 299012 from Patent EP1572962.
JD467189 - Sequence 448213 from Patent EP1572962.
JD444355 - Sequence 425379 from Patent EP1572962.
AK310540 - Homo sapiens cDNA, FLJ17582.

-  Other Names for This Gene
  Alternate Gene Symbols: CT194_HUMAN, NM_001009984, NP_001009984, Q5TEA3, Q66K86, Q6P2R9, Q9UFX9, uc002wii.2
UCSC ID: uc002wii.3
RefSeq Accession: NM_001009984
Protein: Q5TEA3 (aka CT194_HUMAN)
CCDS: CCDS42851.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001009984.2
exon count: 37CDS single in 3' UTR: no RNA size: 6919
ORF size: 3534CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 7268.00frame shift in genome: no % Coverage: 99.86
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.