The protein encoded by this gene is thought to be a human-specific protein. Currently available evidence suggests that orthologous regions in other organisms contain sequence differences that would not support production of a protein product. Genome-wide association studies have suggested the possibility that a SNP in the 3' UTR, rs17123507, could be associated with nicotine ad... See more...

Aliases for C20orf203 Gene

Aliases for C20orf203 Gene

  • Chromosome 20 Open Reading Frame 203 2 3 5
  • Uncharacterized Protein C20orf203 3 4
  • Alugen 3

External Ids for C20orf203 Gene

Previous GeneCards Identifiers for C20orf203 Gene

  • GC20M031221
  • GC20M028008

Summaries for C20orf203 Gene

Entrez Gene Summary for C20orf203 Gene

  • The protein encoded by this gene is thought to be a human-specific protein. Currently available evidence suggests that orthologous regions in other organisms contain sequence differences that would not support production of a protein product. Genome-wide association studies have suggested the possibility that a SNP in the 3' UTR, rs17123507, could be associated with nicotine addiction. Expression of this gene may be elevated in some individuals with Alzheimer's disease. [provided by RefSeq, Mar 2017]

GeneCards Summary for C20orf203 Gene

C20orf203 (Chromosome 20 Open Reading Frame 203) is a Protein Coding gene. Diseases associated with C20orf203 include Midface Dysplasia.

Additional gene information for C20orf203 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for C20orf203 Gene

Genomics for C20orf203 Gene

GeneHancer (GH) Regulatory Elements for C20orf203 Gene

Promoters and enhancers for C20orf203 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 C20orf203 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for C20orf203

Genomic Locations for C20orf203 Gene

Genomic Locations for C20orf203 Gene
chr20:32,631,625-32,673,941
(GRCh38/hg38)
Size:
42,317 bases
Orientation:
Minus strand
chr20:31,219,427-31,261,743
(GRCh37/hg19)
Size:
42,317 bases
Orientation:
Minus strand

Genomic View for C20orf203 Gene

Genes around C20orf203 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C20orf203 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C20orf203 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C20orf203 Gene

Proteins for C20orf203 Gene

  • Protein details for C20orf203 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NBC4-CT203_HUMAN
    Recommended name:
    Uncharacterized protein C20orf203
    Protein Accession:
    Q8NBC4
    Secondary Accessions:
    • B8JHY2

    Protein attributes for C20orf203 Gene

    Size:
    194 amino acids
    Molecular mass:
    21159 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • Originated from non-coding DNA sequences (insertion of repeat elements especially Alu). Seems to exist only in human.

neXtProt entry for C20orf203 Gene

Post-translational modifications for C20orf203 Gene

No Post-translational modifications

Other Protein References for C20orf203 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for C20orf203 Gene

Domains & Families for C20orf203 Gene

Gene Families for C20orf203 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for C20orf203 Gene

InterPro:
ProtoNet:
genes like me logo Genes that share domains with C20orf203: view

No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for C20orf203 Gene

Function for C20orf203 Gene

Phenotypes From GWAS Catalog for C20orf203 Gene

Phenotypes for C20orf203 Gene

GenomeRNAi human phenotypes for C20orf203:
genes like me logo Genes that share phenotypes with C20orf203: view

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for C20orf203 Gene

Localization for C20orf203 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C20orf203 Gene

Cytoplasm.

Gene Ontology (GO) - Cellular Components for C20orf203 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with C20orf203: view

No data available for Subcellular locations from COMPARTMENTS and Subcellular locations from the Human Protein Atlas (HPA) for C20orf203 Gene

Pathways & Interactions for C20orf203 Gene

PathCards logo

SuperPathways for C20orf203 Gene

No Data Available

Interacting Proteins for C20orf203 Gene

Selected Interacting proteins: Q8NBC4-CT203_HUMAN for C20orf203 Gene via IID

Symbol External ID(s) Details
CNRIP1
POTEI
;

Gene Ontology (GO) - Biological Process for C20orf203 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C20orf203 Gene

Drugs & Compounds for C20orf203 Gene

No Compound Related Data Available

Transcripts for C20orf203 Gene

mRNA/cDNA for C20orf203 Gene

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

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for C20orf203 Gene

No ASD Table

Relevant External Links for C20orf203 Gene

GeneLoc Exon Structure for
C20orf203

Expression for C20orf203 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for C20orf203 Gene

mRNA differential expression in normal tissues according to GTEx for C20orf203 Gene

This gene is overexpressed in Brain - Cerebellum (x4.8) and Brain - Cerebellar Hemisphere (x4.1).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for C20orf203

SOURCE GeneReport for Unigene cluster for C20orf203 Gene:

Hs.353262

mRNA Expression by UniProt/SwissProt for C20orf203 Gene:

Q8NBC4-CT203_HUMAN
Tissue specificity: Expressed most abundantly in the brain at protein level. Present in cortex, cerebellum and midbrain. Found in neurons. Elevated expressions detected in Alzheimer brain samples. Also expressed in testis.
genes like me logo Genes that share expression patterns with C20orf203: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for C20orf203 Gene

Orthologs for C20orf203 Gene

This gene was present in the common ancestor of human and chimp.

Orthologs for C20orf203 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C20H20orf203 30
  • 97.94 (n)
Species where no ortholog for C20orf203 was found in the sources mined by GeneCards:
  • 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)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • dog (Canis familiaris)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • mouse (Mus musculus)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for C20orf203 Gene

ENSEMBL:
Gene Tree for C20orf203 (if available)
TreeFam:
Gene Tree for C20orf203 (if available)

Paralogs for C20orf203 Gene

No data available for Paralogs for C20orf203 Gene

Variants for C20orf203 Gene

Additional dbSNP identifiers (rs#s) for C20orf203 Gene

Structural Variations from Database of Genomic Variants (DGV) for C20orf203 Gene

Variant ID Type Subtype PubMed ID
nsv1056411 CNV loss 25217958
nsv470547 CNV loss 18288195
nsv509766 CNV insertion 20534489
nsv516018 CNV loss 19592680
nsv521347 CNV gain 19592680
nsv523511 CNV loss 19592680
nsv833956 CNV loss 17160897

Additional Variant Information for C20orf203 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C20orf203

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP and Variation tolerance for C20orf203 Gene

Disorders for C20orf203 Gene

MalaCards: The human disease database

(1) MalaCards diseases for C20orf203 Gene - From: DISEASES

Disorder Aliases PubMed IDs
midface dysplasia
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for C20orf203

genes like me logo Genes that share disorders with C20orf203: view

No data available for UniProtKB/Swiss-Prot and Genatlas for C20orf203 Gene

Publications for C20orf203 Gene

  1. A human-specific de novo protein-coding gene associated with human brain functions. (PMID: 20376170) Li CY … Wei L (PLoS computational biology 2010) 2 3 4 54
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 54
  5. De novo origin of human protein-coding genes. (PMID: 22102831) Wu DD … Zhang YP (PLoS genetics 2011) 3 54

Products for C20orf203 Gene

Sources for C20orf203 Gene