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
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:
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.
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
Front
Top
Side
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.