Free for academic non-profit institutions. Other users need a Commercial license

Aliases for C20orf194 Gene

Aliases for C20orf194 Gene

  • Chromosome 20 Open Reading Frame 194 2 3 5

External Ids for C20orf194 Gene

Previous GeneCards Identifiers for C20orf194 Gene

  • GC20M003179
  • GC20M003226

Summaries for C20orf194 Gene

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 for C20orf194 Gene

  • May act as an effector for ARL3.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C20orf194 Gene

Genomics for C20orf194 Gene

Regulatory Elements for C20orf194 Gene

Promoters for C20orf194 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around C20orf194 on UCSC Golden Path with GeneCards custom track

Genomic Location for C20orf194 Gene

Chromosome:
20
Start:
3,249,302 bp from pter
End:
3,407,662 bp from pter
Size:
158,361 bases
Orientation:
Minus strand

Genomic View for C20orf194 Gene

Genes around C20orf194 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C20orf194 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C20orf194 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C20orf194 Gene

Proteins for C20orf194 Gene

  • Protein details for C20orf194 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5TEA3-CT194_HUMAN
    Recommended name:
    Uncharacterized protein C20orf194
    Protein Accession:
    Q5TEA3
    Secondary Accessions:
    • Q66K86
    • Q6P2R9
    • Q9UFX9

    Protein attributes for C20orf194 Gene

    Size:
    1177 amino acids
    Molecular mass:
    132287 Da
    Quaternary structure:
    • Interacts with ARL3.

neXtProt entry for C20orf194 Gene

Proteomics data for C20orf194 Gene at MOPED

Post-translational modifications for C20orf194 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C20orf194 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for C20orf194 Gene

Domains & Families for C20orf194 Gene

Protein Domains for C20orf194 Gene

ProtoNet:

Suggested Antigen Peptide Sequences for C20orf194 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with C20orf194: view

No data available for Gene Families and UniProtKB/Swiss-Prot for C20orf194 Gene

Function for C20orf194 Gene

Molecular function for C20orf194 Gene

UniProtKB/Swiss-Prot Function:
May act as an effector for ARL3.

Phenotypes for C20orf194 Gene

genes like me logo Genes that share phenotypes with C20orf194: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for C20orf194 Gene

Localization for C20orf194 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for C20orf194 Gene COMPARTMENTS Subcellular localization image for C20orf194 gene
Compartment Confidence
nucleus 3
cytosol 1
endoplasmic reticulum 1
mitochondrion 1
peroxisome 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for C20orf194 Gene

Pathways & Interactions for C20orf194 Gene

SuperPathways for C20orf194 Gene

No Data Available

Interacting Proteins for C20orf194 Gene

Gene Ontology (GO) - Biological Process for C20orf194 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C20orf194 Gene

Drugs & Compounds for C20orf194 Gene

(2) Drugs for C20orf194 Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Peginterferon alfa-2a Approved, Investigational Pharma 537
Ribavirin Approved Pharma 948
genes like me logo Genes that share compounds with C20orf194: view

Transcripts for C20orf194 Gene

Unigene Clusters for C20orf194 Gene

Chromosome 20 open reading frame 194:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for C20orf194 Gene

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:

Relevant External Links for C20orf194 Gene

GeneLoc Exon Structure for
C20orf194
ECgene alternative splicing isoforms for
C20orf194

Expression for C20orf194 Gene

mRNA expression in normal human tissues for C20orf194 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for C20orf194 Gene

This gene is overexpressed in Heart (57.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for C20orf194 Gene



SOURCE GeneReport for Unigene cluster for C20orf194 Gene Hs.516853

genes like me logo Genes that share expression patterns with C20orf194: view

Protein tissue co-expression partners for C20orf194 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for C20orf194 Gene

Orthologs for C20orf194 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C20orf194 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C20H20orf194 35
  • 98.58 (n)
  • 98.47 (a)
C20orf194 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C13H20orf194 36
  • 91 (a)
OneToOne
C13H20orf194 35
  • 90.85 (n)
  • 90.91 (a)
dog
(Canis familiaris)
Mammalia C24H20orf194 35
  • 92.24 (n)
  • 92.35 (a)
C20orf194 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia 4930402H24Rik 16
4930402H24Rik 35
  • 86.64 (n)
  • 85.19 (a)
4930402H24Rik 36
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia C20orf194 36
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 75 (a)
OneToMany
-- 36
  • 70 (a)
OneToMany
-- 36
  • 84 (a)
OneToMany
-- 36
  • 72 (a)
OneToMany
-- 36
  • 80 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia RGD1565616 35
  • 87.09 (n)
  • 86.55 (a)
chicken
(Gallus gallus)
Aves C4H20ORF194 35
  • 74.71 (n)
  • 76.98 (a)
C20orf194 36
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C20orf194 36
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100486685 35
  • 67.16 (n)
  • 66.2 (a)
zebrafish
(Danio rerio)
Actinopterygii C13H20orf194 36
  • 52 (a)
OneToOne
si:ch211-194c3.5 35
  • 59.32 (n)
  • 53.7 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 42 (a)
OneToMany
CSA.3345 36
  • 32 (a)
OneToMany
Species with no ortholog for C20orf194:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for C20orf194 Gene

ENSEMBL:
Gene Tree for C20orf194 (if available)
TreeFam:
Gene Tree for C20orf194 (if available)

Paralogs for C20orf194 Gene

No data available for Paralogs for C20orf194 Gene

Variants for C20orf194 Gene

Sequence variations from dbSNP and Humsavar for C20orf194 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs16988463 - 3,318,316(+) AGAAG(A/G/T)CAAAA reference, missense
rs2422864 - 3,304,493(+) ACTTC(C/T)ATGAC reference, missense, utr-variant-5-prime
rs8124486 - 3,381,405(+) ATCCC(A/G/T)TTTTC reference, missense
rs149767043 - 3,343,726(+) CTTCT(C/G)AATGG intron-variant, reference, missense
rs750702 -- 3,374,581(-) ATTGA(A/C/T)GCTAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for C20orf194 Gene

Variant ID Type Subtype PubMed ID
nsv833898 CNV Gain+Loss 17160897
dgv4520n71 CNV Loss 21882294
esv2722118 CNV Deletion 23290073
nsv179045 CNV Loss 16902084
esv2660318 CNV Deletion 23128226
esv269444 CNV Insertion 20981092
esv24766 CNV Loss 19812545
esv2671132 CNV Deletion 23128226
esv2675063 CNV Deletion 23128226
esv2722119 CNV Deletion 23290073

Variation tolerance for C20orf194 Gene

Residual Variation Intolerance Score: 10.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.52; 64.64% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for C20orf194 Gene

HapMap Linkage Disequilibrium report
C20orf194

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C20orf194 Gene

Disorders for C20orf194 Gene

Relevant External Links for C20orf194

Genetic Association Database (GAD)
C20orf194
Human Genome Epidemiology (HuGE) Navigator
C20orf194
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
C20orf194

No disorders were found for C20orf194 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C20orf194 Gene

Publications for C20orf194 Gene

  1. Genome-wide association study of interferon-related cytopenia in chronic hepatitis C patients. (PMID: 21703177) Thompson A.J. … Muir A.J. (J. Hepatol. 2012) 3 48 67
  2. Insights into RNA biology from an atlas of mammalian mRNA-binding proteins. (PMID: 22658674) Castello A. … Hentze M.W. (Cell 2012) 3
  3. Quantitative analysis of HSP90-client interactions reveals principles of substrate recognition. (PMID: 22939624) Taipale M. … Lindquist S. (Cell 2012) 3
  4. Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement. (PMID: 21683323) Kobayashi H. … Koizumi A. (Am. J. Hum. Genet. 2011) 3
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3

Products for C20orf194 Gene

Sources for C20orf194 Gene

Back to Top

Content