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C2orf48 Gene

protein-coding   GIFtS: 34
GCID: GC02P010281          (predicted)

Chromosome 2 Open Reading Frame 48

  See related diseases
at  

(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 481 2
Uncharacterized Protein C2orf482

External Ids:    HGNC: 263221   Entrez Gene: 3487382   Ensembl: ENSG000001630097   UniProtKB: Q96LS83   

Export aliases for C2orf48 gene to outside databases

Previous GC identifer: GC02P010198


(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 C2orf48 Gene:
C2orf48 (chromosome 2 open reading frame 48) is a protein-coding gene. Diseases associated with C2orf48 include prostate cancer, and prostatitis.


(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:
NC_000002.12  NC_018913.2  NT_005334.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the C2orf48 gene promoter:
         AREB6   CREB   Sp1   POU2F1a   POU2F1b   deltaCREB   POU2F1c   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for C2orf48

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C2orf48


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

Entrez Gene cytogenetic band: 2p25.1   Ensembl cytogenetic band:  2p25.1   HGNC cytogenetic band: 2p25.1

C2orf48 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C2orf48 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P010281:  view genomic region     (about GC identifiers)

Start:
10,281,509 bp from pter      End:
10,351,851 bp from pter
Size:
70,343 bases      Orientation:
plus 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CB048_HUMAN, Q96LS8 (See protein sequence)
Recommended Name: Uncharacterized protein C2orf48  
Size: 159 amino acids; 17367 Da

Explore the universe of human proteins at neXtProt for C2orf48: NX_Q96LS8

Explore proteomics data for C2orf48 at MOPED


See C2orf48 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_872432.1  
ENSEMBL proteins: 
 ENSP00000371205  

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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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ProtoNet protein and cluster: Q96LS8


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Animal Models:
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hsa-mir-1 (MIRT024090)

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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
cytosol2
nucleus2
extracellular1

(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 C2orf48
Interactions:

    Search GeneGlobe Interaction Network for C2orf48

(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 C2orf48 (CB048)



(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, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for C2orf48 gene: 
NM_182626.2  

Unigene Cluster for C2orf48:

Chromosome 2 open reading frame 48
Hs.454981  [show with all ESTs]
Unigene Representative Sequence: AK057831
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000381786(uc021vds.1)
miRNA
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Additional mRNA sequence: 

AK057831.1 BC093999.1 BC094001.1 

4 DOTS entries:

DT.91892645  DT.101966823  DT.121027886  DT.91666184 

Selected AceView cDNA sequences (see all 609):

BU521963 BM836045 BE297806 BM460735 BQ646138 AA046748 BI226132 AK123010 
BQ646216 AA714766 BM848372 CB108764 CR614990 BM468712 CR603569 CB125984 
AI444936 AI970574 AU124108 AI139965 CB151237 BC030154 BE613857 BQ684648 

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for C2orf48    About this scheme

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b · 6c
SP1:                                -     -                     
SP2:                                -                           
SP3:                                -     -     -               
SP4:                                                            


ECgene alternative splicing isoforms for C2orf48

(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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See probesets specificity/sensitivity at GeneAnnot
CGAP TAG: --

C2orf48 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

C2orf48 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.454981
    Custom PCR Arrays for C2orf48
Primer
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C2orf48

(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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  --

ENSEMBL Gene Tree for C2orf48 (if available)
TreeFam Gene Tree for C2orf48 (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 C2orf48 (see all 1630)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 2 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1500656811,2
--10279987(+) CTCCAA/GTGTTA 1 -- us2k10--------
rs1857661001,2
--10279994(+) GTTAAA/CGGAGC 1 -- us2k10--------
rs1444260491,2
--10280002(+) AGCAGG/TGGTCA 1 -- us2k10--------
rs731693051,2
C,F--10280039(+) TTCACC/TGCCTG 1 -- us2k14Minor allele frequency- T:0.17WA CSA 124
rs1901933501,2
--10280080(+) TTTTAA/CAAATC 1 -- us2k10--------
rs1824063991,2
C--10280095(+) GAATGA/GCTGGG 1 -- us2k10--------
rs1867942241,2
--10280177(+) GAGACA/CATCCT 1 -- us2k10--------
rs1912041411,2
C--10280465(+) CTTCGC/TTGGGG 1 -- us2k10--------
rs1484029051,2
--10280472(+) GGGGCA/GCAGCC 1 -- us2k10--------
rs1425407121,2
--10280560(+) TTTCTA/GTCTTT 1 -- us2k10--------

HapMap Linkage Disequilibrium report for C2orf48 (10281509 - 10351851 bp)

Structural Variations
     Database of Genomic Variants (DGV) 10 variations for C2orf48:    About this table    
Variant IDTypeSubtypePubMed ID
esv2719635CNV Deletion23290073
esv2719636CNV Deletion23290073
esv2176584CNV Deletion18987734
esv2719634CNV Deletion23290073
dgv4049n71CNV Loss21882294
nsv873636CNV Loss21882294
dgv4050n71CNV Loss21882294
dgv146e55CNV Gain17911159
nsv818977CNV Gain17921354
dgv1147e1CNV Complex17122850

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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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2 diseases for C2orf48:    
About MalaCards
prostate cancer    prostatitis


C2orf48 for disorders           About GeneDecksing


Export disorders for C2orf48 gene to outside databases

(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 C2orf48 gene integrated from 10 sources:
(articles sorted by number of sources associating them with C2orf48)
    Utopia: connect your pdf to the dynamic
world of online information

  1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
  4. Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. (PubMed id 23535732)1 Eeles R.A....Easton D.F. (Nat. Genet. 2013)

(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: 348738 HGNC: 26322 AceView: RRM2 Ensembl:ENSG00000163009 euGenes: HUgn348738
ECgene: C2orf48 H-InvDB: C2orf48

(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 C2orf48 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 C2orf48 gene:
Search GeneIP for patents involving C2orf48

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, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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