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Aliases for C2orf83 Gene

Aliases for C2orf83 Gene

  • Chromosome 2 Open Reading Frame 83 2 3

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.

No data available for Entrez Gene 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

Regulatory Elements for C2orf83 Gene

Genomic Location for C2orf83 Gene

Chromosome:
2
Start:
227,610,090 bp from pter
End:
227,633,320 bp from pter
Size:
23,231 bases
Orientation:
Minus strand

Genomic View for C2orf83 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
    Q53S99-CB083_HUMAN
    Recommended name:
    Folate transporter-like protein C2orf83
    Protein Accession:
    Q53S99
    Secondary Accessions:
    • A2RRG6
    • B8ZZI8
    • Q9NPW4

    Protein attributes for C2orf83 Gene

    Size:
    150 amino acids
    Molecular mass:
    16373 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • 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

    UniProtKB/Swiss-Prot:

neXtProt entry for C2orf83 Gene

Proteomics data for C2orf83 Gene at MOPED

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

Protein Domains for C2orf83 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for C2orf83 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q53S99

UniProtKB/Swiss-Prot:

CB083_HUMAN :
  • Belongs to the reduced folate carrier (RFC) transporter (TC 2.A.48) family.
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

No data available for Gene Families for C2orf83 Gene

Function for C2orf83 Gene

Gene Ontology (GO) - Molecular Function for C2orf83 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015403 thiamine uptake transmembrane transporter activity IBA --
genes like me logo Genes that share ontologies with C2orf83: view

Phenotypes for C2orf83 Gene

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

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for C2orf83

In Situ Assay Products

Flow Cytometry Products

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

Localization for C2orf83 Gene

Gene Ontology (GO) - Cellular Components for C2orf83 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005887 integral component of plasma membrane IBA --
GO:0016020 membrane --
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 COMPARTMENTS 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:0006810 transport --
GO:0006855 drug transmembrane transport IBA --
GO:0042723 thiamine-containing compound metabolic process IBA --
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 Nutra 2851
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:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for C2orf83 Gene

Chromosome 2 open reading frame 83:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for C2orf83

Flow Cytometry Products

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

No ASD Table

Relevant External Links for C2orf83 Gene

GeneLoc Exon Structure for
C2orf83
ECgene alternative splicing isoforms for
C2orf83

Expression for C2orf83 Gene

mRNA expression in normal human tissues 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).

SOURCE GeneReport for Unigene cluster for C2orf83 Gene Hs.283092

genes like me logo Genes that share expression patterns with C2orf83: view

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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
chimpanzee
(Pan troglodytes)
Mammalia C2BH2orf83 35
  • 98.81 (n)
  • 97.14 (a)
C2orf83 36
  • 97 (a)
OneToOne
Species with no ortholog for C2orf83:
  • 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

ENSEMBL:
Gene Tree for C2orf83 (if available)
TreeFam:
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 Sequence Context AA Info Type MAF
rs968814 -- 227,622,953(-) AAGTC(C/T)ACCCC intron-variant
rs968815 -- 227,622,826(-) GAGGA(C/T)CTGAT intron-variant
rs1568039 -- 227,625,095(-) AAGCC(A/G)GGAGG intron-variant
rs1568040 -- 227,625,047(-) catca(C/T)tattt intron-variant
rs1568041 -- 227,624,845(-) aggct(G/T)caatg intron-variant

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

Variant ID Type Subtype PubMed ID
nsv834560 CNV Loss 17160897
nsv834561 CNV Gain 17160897
esv2721560 CNV Deletion 23290073
nsv213271 CNV Loss 16902084
esv21547 CNV Loss 19812545

Variation tolerance for C2orf83 Gene

Residual Variation Intolerance Score: 83.95% 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)

Relevant External Links for C2orf83 Gene

HapMap Linkage Disequilibrium report
C2orf83

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

Disorders for C2orf83 Gene

Relevant External Links for C2orf83

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
C2orf83
genes like me logo Genes that share disorders with C2orf83: view

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

Publications for C2orf83 Gene

  1. Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients. (PMID: 22610502) Kennedy R.B. … Poland G.A. (Hum. Genet. 2012) 67
  2. The full-ORF clone resource of the German cDNA consortium. (PMID: 17974005) Bechtel S. … Schupp I. (BMC Genomics 2007) 67
  3. The LIFEdb database in 2006. (PMID: 16381901) Mehrle A. … Wiemann S. (Nucleic Acids Res. 2006) 67
  4. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier L.W. … Wilson R.K. (Nature 2005) 67
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 67

Products for C2orf83 Gene

Sources for C2orf83 Gene

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