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] See more...

Aliases for C20orf194 Gene

Aliases for C20orf194 Gene

  • Chromosome 20 Open Reading Frame 194 2 3 5
  • Uncharacterized Protein C20orf194 3 4
  • DKFZp434N061 2
  • C20orf194 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 Summary for C20orf194 Gene

Additional gene information for C20orf194 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for C20orf194 Gene

Genomics for C20orf194 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for C20orf194 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C20orf194 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for C20orf194

Top Transcription factor binding sites by QIAGEN in the C20orf194 gene promoter:
  • AREB6
  • ATF
  • Egr-3
  • Evi-1
  • NF-kappaB
  • NF-kappaB1
  • POU2F1
  • POU2F1a
  • RelA
  • TBP

Genomic Locations for C20orf194 Gene

Genomic Locations for C20orf194 Gene
chr20:3,249,302-3,407,662
(GRCh38/hg38)
Size:
158,361 bases
Orientation:
Minus strand
chr20:3,229,948-3,388,272
(GRCh37/hg19)
Size:
158,325 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

Post-translational modifications for C20orf194 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C20orf194 Gene

No data available for DME Specific Peptides for C20orf194 Gene

Domains & Families for C20orf194 Gene

Gene Families for C20orf194 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for C20orf194 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for C20orf194 Gene

GenScript: Design optimal peptide antigens:
  • C20orf194 protein (Q0IIP3_HUMAN)
  • C20orf194 protein (Q3KQR5_HUMAN)
genes like me logo Genes that share domains with C20orf194: view

No data available for Graphical View of Domain Structure 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 From GWAS Catalog for C20orf194 Gene

Gene Ontology (GO) - Molecular Function for C20orf194 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 22085962
genes like me logo Genes that share ontologies with C20orf194: view
genes like me logo Genes that share phenotypes with C20orf194: view

Animal Models for C20orf194 Gene

MGI Knock Outs for C20orf194:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C20orf194

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for C20orf194 Gene

Localization for C20orf194 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for C20orf194 gene
Compartment Confidence
nucleus 3
cytosol 1
mitochondrion 0
peroxisome 0
endoplasmic reticulum 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoli fibrillar center (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for C20orf194 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
genes like me logo Genes that share ontologies with C20orf194: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for C20orf194 Gene

Pathways & Interactions for C20orf194 Gene

PathCards logo

SuperPathways for C20orf194 Gene

No Data Available

Interacting Proteins for C20orf194 Gene

Gene Ontology (GO) - Biological Process for C20orf194 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with C20orf194: view

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

Drugs & Compounds for C20orf194 Gene

No Compound Related Data Available

Transcripts for C20orf194 Gene

mRNA/cDNA for C20orf194 Gene

1 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C20orf194

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

Expression for C20orf194 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for C20orf194 Gene



Protein tissue co-expression partners for C20orf194 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for C20orf194

SOURCE GeneReport for Unigene cluster for C20orf194 Gene:

Hs.516853

Evidence on tissue expression from TISSUES for C20orf194 Gene

  • Nervous system(3.3)
genes like me logo Genes that share expression patterns with C20orf194: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 C20orf194 31
  • 100 (a)
OneToOne
C20H20orf194 30
  • 98.58 (n)
Dog
(Canis familiaris)
Mammalia C24H20orf194 30
  • 92.24 (n)
C20orf194 31
  • 92 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia C13H20orf194 30 31
  • 90.85 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia RGD1565616 30
  • 87.09 (n)
Mouse
(Mus musculus)
Mammalia 4930402H24Rik 30 17 31
  • 86.64 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 84 (a)
OneToMany
-- 31
  • 80 (a)
OneToMany
-- 31
  • 75 (a)
OneToMany
-- 31
  • 72 (a)
OneToMany
-- 31
  • 70 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia C20orf194 31
  • 80 (a)
OneToOne
Chicken
(Gallus gallus)
Aves C20orf194 31
  • 76 (a)
OneToOne
C4H20ORF194 30
  • 74.71 (n)
Lizard
(Anolis carolinensis)
Reptilia C20orf194 31
  • 74 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100486685 30
  • 67.16 (n)
Zebrafish
(Danio rerio)
Actinopterygii si:ch211-194c3.5 30
  • 59.32 (n)
C13H20orf194 31
  • 52 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 42 (a)
OneToMany
CSA.3345 31
  • 32 (a)
OneToMany
Species where no ortholog for C20orf194 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for C20orf194 Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
rs149767043 - p.Phe265Leu
rs16988463 - p.Thr481Pro
rs2422864 - p.Arg577Gly
rs8124486 - p.Thr86Met

Additional dbSNP identifiers (rs#s) for C20orf194 Gene

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

Variant ID Type Subtype PubMed ID
dgv7441n54 CNV loss 21841781
dgv7442n54 CNV loss 21841781
esv24766 CNV loss 19812545
esv2660318 CNV deletion 23128226
esv2671132 CNV deletion 23128226
esv2675063 CNV deletion 23128226
esv2722118 CNV deletion 23290073
esv2722119 CNV deletion 23290073
esv3305166 CNV mobile element insertion 20981092
esv3410928 CNV insertion 20981092
esv3556743 CNV deletion 23714750
esv3556746 CNV deletion 23714750
esv3575354 CNV gain 25503493
esv3584428 CNV loss 25503493
esv3645037 CNV loss 21293372
esv3645038 CNV loss 21293372
nsv1067207 CNV gain 25217958
nsv1071675 CNV deletion 25765185
nsv179045 CNV deletion 16902084
nsv585276 CNV gain 21841781
nsv585281 CNV loss 21841781
nsv833898 CNV gain+loss 17160897
nsv965845 CNV duplication 23825009

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)

Additional Variant Information for C20orf194 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C20orf194

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

Disorders for C20orf194 Gene

Additional Disease Information for C20orf194

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform

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 AJ … Muir AJ (Journal of hepatology 2012) 3 41
  2. An ARL3-UNC119-RP2 GTPase cycle targets myristoylated NPHP3 to the primary cilium. (PMID: 22085962) Wright KJ … Jackson PK (Genes & development 2011) 3 4
  3. 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 (American journal of human genetics 2011) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P … Rogers J (Nature 2001) 3 4

Products for C20orf194 Gene

Sources for C20orf194 Gene