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C2orf83 Gene

protein-coding   GIFtS: 39
GCID: GC02M228474

Chromosome 2 Open Reading Frame 83

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Chromosome 2 Open Reading Frame 831 2
Folate Transporter-Like Protein C2orf832

External Ids:    HGNC: 253441   Entrez Gene: 569182   Ensembl: ENSG000000423047   UniProtKB: Q53S993   

Export aliases for C2orf83 gene to outside databases

Previous GC identifers: GC02M228184 GC02M220318


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for C2orf83 Gene:
C2orf83 (chromosome 2 open reading frame 83) is a protein-coding gene. GO annotations related to this gene include reduced folate carrier activity and folic acid binding.


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NC_018913.2  NT_005403.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the C2orf83 gene promoter:
         HOXA9   NF-AT4   NF-AT2   AML1a   Brachyury   NF-AT3   POU6F1 (c2)   NF-AT1   NF-AT   FOXL1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for C2orf83

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C2orf83


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q36.3   Ensembl cytogenetic band:  2q36.3   HGNC cytogenetic band: 2q36.3

C2orf83 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C2orf83 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M228474:  view genomic region     (about GC identifiers)

Start:
228,474,806 bp from pter      End:
228,498,036 bp from pter
Size:
23,231 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
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UniProtKB/Swiss-Prot: CB083_HUMAN, Q53S99 (See protein sequence)
Recommended Name: Folate transporter-like protein C2orf83  
Size: 150 amino acids; 16373 Da
Caution: Although related to reduced folate carrier family, it lacks transmembrane domains, suggesting that it has
probably no transporter function
Sequence caution: Sequence=CAB95774.1; Type=Erroneous termination; Positions=141; Note=Translated as Trp;
Sequence=CAH18470.1; Type=Erroneous termination; Positions=141; Note=Translated as Trp;
Secondary accessions: A2RRG6 B8ZZI8 Q9NPW4
Alternative splicing: 2 isoforms:  Q53S99-1   Q53S99-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for C2orf83: NX_Q53S99

Explore proteomics data for C2orf83 at MOPED


See C2orf83 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (2 alternative transcripts): 
NP_001155955.1  NP_064546.3  

ENSEMBL proteins: 
 ENSP00000264387   ENSP00000387149  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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1 InterPro protein domain:
 IPR002666 Folate_carrier

Graphical View of Domain Structure for InterPro Entry Q53S99

ProtoNet protein and cluster: Q53S99

UniProtKB/Swiss-Prot: CB083_HUMAN, Q53S99
Similarity: Belongs to the reduced folate carrier (RFC) transporter (TC 2.A.48) family


Find genes that share domains with C2orf83           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Phenotypes:
     1 GenomeRNAi human phenotype for C2orf83:
 Increased gamma-H2AX phosphory 

Animal Models:
   genOway: Develop your customized and physiologically relevant rodent model for C2orf83

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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
extracellular2
cytosol1
mitochondrion1
nucleus1

Gene Ontology (GO): 1 cellular component term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0016020membrane IEA--

Find genes that share ontologies with C2orf83           About GenesLikeMe


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for C2orf83
Interactions:

    Search GeneGlobe Interaction Network for C2orf83

Gene Ontology (GO): 1 biological process term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006810transport IEA--

Find genes that share ontologies with C2orf83           About GenesLikeMe



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for C2orf83 (CB083)

1 HMDB Compound for C2orf83    About this table
CompoundSynonyms CAS #PubMed Ids
Folic acidAcifolic (see all 37)59-30-3--



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for C2orf83 gene (2 alternative transcripts): 
NM_001162483.1  NM_020161.3  

Unigene Cluster for C2orf83:

Chromosome 2 open reading frame 83
Hs.283092  [show with all ESTs]
Unigene Representative Sequence: NM_001162483
2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000264387 ENST00000409066(uc010zlu.2 uc002vph.3)
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Additional mRNA sequence: 

AK055355.1 AL359944.1 BC131618.1 CR749679.1 

2 DOTS entries:

DT.91973066  DT.95362907 

6 AceView cDNA sequences:

NM_020161 AK055355 CR749679 AL359944 BX371898 BX360578 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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C2orf83 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: ACTGGCCAAT
C2orf83 Expression
About this image

C2orf83 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

C2orf83 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.283092
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In Situ
Assay Products:
 

 
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(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of human and chimp.

Orthologs for C2orf83 gene from 1 species (see representative species )    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
chimpanzee
(Pan troglodytes)
Mammalia C2BH2orf831 chromosome 2B open reading frame, human C2orf83 98.81(n)
97.14(a)
  470727  XM_003309498.1  XP_003309546.1 


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

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for C2orf83 (see all 637)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 2 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs579261121,2
C--228474323(+) TGGAT-/GCGCAGT 2 -- int10--------
rs779931201,2
C--228474324(+) GGATGG/CGCAGT 2 -- int11Minor allele frequency- C:0.50CSA 2
rs130034401,2
--228474325(+) GATGCG/TCAGTG 2 -- int11Minor allele frequency- T:0.50NA 2
rs1913488161,2
--228474369(+) TTCCTC/GCCTCT 2 -- int10--------
rs596623151,2
C--228474400(+) ACCAAA/GCAGAA 2 -- int13Minor allele frequency- G:0.07CSA WA NA 239
rs101725651,2
C,F,A--228474401(+) CCAAAG/CAGAAT 2 -- int19Minor allele frequency- C:0.43NA WA CSA EA 370
rs1406620791,2
--228474436(+) CAGTTA/CGTATT 2 -- int10--------
rs1458383301,2
--228474536(+) GAGGCA/GGGCAG 2 -- int10--------
rs1825732921,2
--228474577(+) CTGGCC/TAACAT 2 -- int10--------
rs1122286411,2
C,F--228474623(+) TTAGCC/TGGGCG 2 -- int11Minor allele frequency- T:0.50NA 2

HapMap Linkage Disequilibrium report for C2orf83 (228474806 - 228498036 bp)

Structural Variations
     Database of Genomic Variants (DGV) 5 variations for C2orf83:    About this table    
Variant IDTypeSubtypePubMed ID
esv2721560CNV Deletion23290073
nsv213271CNV Loss16902084
esv21547CNV Loss19812545
nsv834560CNV Loss17160897
nsv834561CNV Gain17160897

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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PubMed articles for C2orf83 gene integrated from 10 sources:
(articles sorted by number of sources associating them with C2orf83)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
  2. Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients. (PubMed id 22610502)1 Kennedy R.B....Poland G.A. (Hum. Genet. 2012)
  3. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (BMC Genomics 2007)
  4. The LIFEdb database in 2006. (PubMed id 16381901)1 Mehrle A....Wiemann S. (Nucleic Acids Res. 2006)
  5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W.... Wilson R.K. (Nature 2005)
  6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
  7. From ORFeome to biology: a functional genomics pipeline. (PubMed id 15489336)1 Wiemann S....Poustka A. (Genome Res. 2004)
  8. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
  9. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1 Wiemann S.... Poustka A. (Genome Res. 2001)
  10. DNA cloning using in vitro site-specific recombination. (PubMed id 11076863)1 Hartley J.L....Brasch M.A. (Genome Res. 2000)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 56918 HGNC: 25344 AceView: DKFZp547H025 Ensembl:ENSG00000042304 euGenes: HUgn56918
ECgene: C2orf83 H-InvDB: C2orf83

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for C2orf83 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for C2orf83 gene:
Search GeneIP for patents involving C2orf83

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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 Browse SwitchGear 3'UTR luciferase reporter plasmids for C2orf83
 Browse SwitchGear Promoter luciferase reporter plasmids for C2orf83
 Search ThermoFisher Antibodies for C2orf83
 Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C2orf83
 Browse compounds at ApexBio
 Search Addgene for plasmids for C2orf83
  Search eBioscience for proteins for C2orf83
  Search eBioscience for elisas for C2orf83
  eBioscience FlowRNA Probe Sets
 genOway: Develop your customized and physiologically relevant rodent model for C2orf83
 antibodies-online antibodies for C2orf83 (8 products)
 antibodies-online kits for C2orf83 (2 products)
  Search antibodies-online for peptides for C2orf83
 antibodies-online proteins for C2orf83 (2 products)
       
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