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Aliases for C2orf83 Gene

Aliases for C2orf83 Gene

  • Chromosome 2 Open Reading Frame 83 2 3 5

External Ids for C2orf83 Gene

Previous GeneCards Identifiers for C2orf83 Gene

  • GC02M228184
  • GC02M228474
  • GC02M220318

Summaries for C2orf83 Gene

GeneCards Summary for C2orf83 Gene

C2orf83 (Chromosome 2 Open Reading Frame 83) is a Protein Coding gene.

Additional gene information for C2orf83 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C2orf83 Gene

Genomics for C2orf83 Gene

GeneHancer (GH) Regulatory Elements for C2orf83 Gene

Promoters and enhancers for C2orf83 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02I227649 Enhancer 0.5 ENCODE 550.8 -0.6 -554 0.2 SMARCE1 ZNF217 CTBP1 GATA3 TCF7L2 LOC100420667 C2orf83 GC02P227657
GH02I227633 Promoter 0.5 EPDnew 550.4 +15.5 15474 0.1 C2orf83 LOC729968
GH02I227674 Enhancer 0.5 FANTOM5 dbSUPER 11.3 -26.0 -26003 0.3 SLC19A3 C2orf83 CCL20 ENSG00000284667 GC02M227708
GH02I228009 Enhancer 0.3 FANTOM5 1.5 -360.7 -360653 0.2 SETDB1 SPHKAP C2orf83 GC02M228005 GC02P227989 LOC105373918
GH02I227626 Enhancer 0.5 FANTOM5 0.3 +21.8 21844 0.2 CREB1 ATF7 ATF2 CCL20 DAW1 LOC729968 GC02P227613 C2orf83
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around C2orf83 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the C2orf83 gene promoter:

Genomic Locations for C2orf83 Gene

Genomic Locations for C2orf83 Gene
38,517 bases
Minus strand

Genomic View for C2orf83 Gene

Genes around C2orf83 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C2orf83 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C2orf83 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C2orf83 Gene

Proteins for C2orf83 Gene

  • Protein details for C2orf83 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Folate transporter-like protein C2orf83
    Protein Accession:
    Secondary Accessions:
    • A2RRG6
    • B8ZZI8
    • Q9NPW4

    Protein attributes for C2orf83 Gene

    150 amino acids
    Molecular mass:
    16373 Da
    Quaternary structure:
    No Data Available
    • Sequence=CAB95774.1; Type=Erroneous termination; Positions=141; Note=Translated as Trp.; Evidence={ECO:0000305}; Sequence=CAH18470.1; Type=Erroneous termination; Positions=141; Note=Translated as Trp.; Evidence={ECO:0000305};

    Alternative splice isoforms for C2orf83 Gene


neXtProt entry for C2orf83 Gene

Post-translational modifications for C2orf83 Gene

No Post-translational modifications

Other Protein References for C2orf83 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for C2orf83 Gene

Domains & Families for C2orf83 Gene

Gene Families for C2orf83 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for C2orf83 Gene


Suggested Antigen Peptide Sequences for C2orf83 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the reduced folate carrier (RFC) transporter (TC 2.A.48) family.
  • Belongs to the reduced folate carrier (RFC) transporter (TC 2.A.48) family.
genes like me logo Genes that share domains with C2orf83: view

Function for C2orf83 Gene

Phenotypes From GWAS Catalog for C2orf83 Gene

Gene Ontology (GO) - Molecular Function for C2orf83 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0090482 vitamin transmembrane transporter activity IEA --
genes like me logo Genes that share ontologies with C2orf83: view

Phenotypes for C2orf83 Gene

genes like me logo Genes that share phenotypes with C2orf83: view

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for C2orf83 Gene

Localization for C2orf83 Gene

Subcellular locations from

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 C2orf83 gene
Compartment Confidence
extracellular 2
mitochondrion 1
nucleus 1
cytosol 1

Gene Ontology (GO) - Cellular Components for C2orf83 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with C2orf83: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for C2orf83 Gene

Pathways & Interactions for C2orf83 Gene

SuperPathways for C2orf83 Gene

No Data Available

Interacting Proteins for C2orf83 Gene

Gene Ontology (GO) - Biological Process for C2orf83 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0051180 vitamin transport IEA --
GO:0071934 thiamine transmembrane transport IBA --
genes like me logo Genes that share ontologies with C2orf83: view

No data available for Pathways by source and SIGNOR curated interactions for C2orf83 Gene

Drugs & Compounds for C2orf83 Gene

(1) Drugs for C2orf83 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Folic Acid Approved, Vet_approved Nutra 4610
genes like me logo Genes that share compounds with C2orf83: view

Transcripts for C2orf83 Gene

mRNA/cDNA for C2orf83 Gene

(2) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(6) Selected AceView cDNA sequences:
(6) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for C2orf83 Gene

Chromosome 2 open reading frame 83:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for C2orf83 Gene

No ASD Table

Relevant External Links for C2orf83 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for C2orf83 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for C2orf83 Gene

mRNA differential expression in normal tissues according to GTEx for C2orf83 Gene

This gene is overexpressed in Testis (x13.5) and Brain - Spinal cord (cervical c-1) (x5.5).

NURSA nuclear receptor signaling pathways regulating expression of C2orf83 Gene:


SOURCE GeneReport for Unigene cluster for C2orf83 Gene:


Evidence on tissue expression from TISSUES for C2orf83 Gene

  • Nervous system(4)
genes like me logo Genes that share expression patterns with C2orf83: 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 , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for C2orf83 Gene

Orthologs for C2orf83 Gene

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

Orthologs for C2orf83 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia C2BH2orf83 33
  • 98.81 (n)
C2orf83 34
  • 97 (a)
Species where no ortholog for C2orf83 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 C2orf83 Gene

Gene Tree for C2orf83 (if available)
Gene Tree for C2orf83 (if available)

Paralogs for C2orf83 Gene

No data available for Paralogs for C2orf83 Gene

Variants for C2orf83 Gene

Sequence variations from dbSNP and Humsavar for C2orf83 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1000028840 -- 227,629,872(-) A/G intron_variant
rs1000040318 -- 227,630,068(-) C/A intron_variant
rs1000252580 -- 227,618,235(-) T/G intron_variant
rs1000407586 -- 227,629,938(-) C/T intron_variant
rs1000495919 -- 227,623,554(-) T/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for C2orf83 Gene

Variant ID Type Subtype PubMed ID
esv21547 CNV loss 19812545
esv2721560 CNV deletion 23290073
nsv1000263 CNV gain 25217958
nsv213271 CNV deletion 16902084
nsv834560 CNV loss 17160897
nsv834561 CNV gain 17160897

Variation tolerance for C2orf83 Gene

Residual Variation Intolerance Score: 83.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.86; 93.49% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C2orf83 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C2orf83 Gene

Disorders for C2orf83 Gene

Additional Disease Information for C2orf83

No disorders were found for C2orf83 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C2orf83 Gene

Publications for C2orf83 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  2. Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients. (PMID: 22610502) Kennedy RB … Poland GA (Human genetics 2012) 3 58
  3. The full-ORF clone resource of the German cDNA Consortium. (PMID: 17974005) Bechtel S … Schupp I (BMC genomics 2007) 4 58
  4. The LIFEdb database in 2006. (PMID: 16381901) Mehrle A … Wiemann S (Nucleic acids research 2006) 3 58
  5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 4 58

Products for C2orf83 Gene

Sources for C2orf83 Gene

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