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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

C2orf50 Gene

protein-coding   GIFtS: 33
GCID: GC02P011273

Chromosome 2 Open Reading Frame 50

  Search for C2orf50
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Chromosome 2 Open Reading Frame 501 2
Uncharacterized Protein C2orf502

External Ids:    HGNC: 263241   Entrez Gene: 1308132   Ensembl: ENSG000001508737   UniProtKB: Q96LR73   

Export aliases for C2orf50 gene to outside databases

Previous GC identifers: GC02P011190 GC02P011123


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for C2orf50 Gene: 
C2orf50 (chromosome 2 open reading frame 50) is a protein-coding gene.


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.2  NT_005334.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C2orf50 gene promoter:
         AML1a   RelA   Tal-1beta   E47   c-Rel   PPAR-gamma1   FAC1   SEF-1 (1)   PPAR-gamma2   LyF-1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for C2orf50

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C2orf50


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

C2orf50 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C2orf50 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P011273:  view genomic region     (about GC identifiers)

Start:
11,273,179 bp from pter      End:
11,286,916 bp from pter
Size:
13,738 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CB050_HUMAN, Q96LR7 (See protein sequence)
Recommended Name: Uncharacterized protein C2orf50  
Size: 162 amino acids; 17838 Da
Secondary accessions: A8K9W3 D6W503

Explore the universe of human proteins at neXtProt for C2orf50: NX_Q96LR7

Explore proteomics data for C2orf50 at MOPED 

C2orf50 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

C2orf50 Protein Expression

REFSEQ proteins: NP_872306.1  
ENSEMBL proteins: 
 ENSP00000370997   ENSP00000384186  

Human Recombinant Protein Products for C2orf50: 
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Cloud-Clone Corp. CLIAs for C2orf50


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

ProtoNet protein and cluster: Q96LR7


(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,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Animal Models:
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(Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
About This Section



Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for C2orf50

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for C2orf50 (CB050)

Search CenterWatch for drugs/clinical trials and news about C2orf50 / CB050

(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,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for C2orf50 gene: 
NM_182500.2  

Unigene Cluster for C2orf50:

Chromosome 2 open reading frame 50
Hs.406894  [show with all ESTs]
Unigene Representative Sequence: AK057872
2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000381585(uc010yji.1) ENST00000405022(uc010yjj.1)
miRNA
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  QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C2orf50

Additional mRNA sequence: 

AK057872.1 AK292828.1 BC120930.2 

1 DOTS entry:

DT.95122390 

2 AceView cDNA sequences:

NM_182500 AK057872 

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for C2orf50    About this scheme

ExUns: 1 ^ 2 ^ 3a · 3b · 3c
SP1:                              
SP2:                              
SP3:        -                     


ECgene alternative splicing isoforms for C2orf50

(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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

C2orf50 expression in normal human tissues (normalized intensities)      C2orf50 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: GAAGCTGGGC
C2orf50 Expression
About this image


C2orf50 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database 
 5/2 selected tissues (see all 2) fully expand
 
 Epithelium (Respiratory System)    fully expand to see all 2 entries
         bronchial epithelial cells   
 
 Pancreas (Endocrine System)
         Posterior foregut-like cells ( A scalable, suspension protocol for derivation of...

See C2orf50 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for C2orf50

SOURCE GeneReport for Unigene cluster: Hs.406894
    SABiosciences Custom PCR Arrays for C2orf50
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C2orf50

(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)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for C2orf50 gene from 5/11 species (see all 11)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia 2410004P03Rik1 , 5 RIKEN cDNA 2410004P03 gene1, 5 74.83(n)1
69.23(a)1
  12 (8.04 cM)5
736671  NM_001201332.11  NP_001188261.11 
 170049585 
chicken
(Gallus gallus)
Aves LOC1008596661 uncharacterized LOC100859666 62.79(n)
57.36(a)
  100859666  XM_003641064.1  XP_003641112.1 
lizard
(Anolis carolinensis)
Reptilia C2ORF506
Uncharacterized protein
52(a)
1 ↔ 1
1(147194573-147197367)
tropical clawed frog
(Xenopus tropicalis)
Amphibia BQ524821.12   -- 69.92(n)    BQ524821.1 
zebrafish
(Danio rerio)
Actinopterygii C13H2orf506
chromosome 2 open reading frame 50
39(a)
1 ↔ 1
13(33124960-33129908)


ENSEMBL Gene Tree for C2orf50 (if available)
TreeFam Gene Tree for C2orf50 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
  --

(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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/315 SNPs in C2orf50 are shown (see all 315)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 2 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1378998571,2
C--11274327(+) ATAGG-/AGAAGGAG 1 -- int10--------
rs1857749411,2
--11274355(+) ATCTAA/GAAAAC 1 -- int10--------
rs775819351,2
F--11274603(+) AGCAAC/TGCCCC 1 -- int11Minor allele frequency- T:0.02WA 118
rs1450547941,2
--11274792(+) TAAGGG/TTGAAT 1 -- int10--------
rs562754371,2
C,F--11274825(+) TATTCA/GTTTGT 1 -- int12Minor allele frequency- G:0.06WA 120
rs1889916251,2
--11274833(+) TGTCAA/GTGGAC 1 -- int10--------
rs1389141481,2
--11274836(+) CAATGA/GACTTT 1 -- int10--------
rs116815601,2
C,F,H--11274852(+) TGCTTC/ACACAT 1 -- int13Minor allele frequency- A:0.12NA 128
rs1159182511,2
C,F--11274868(+) TATTAT/CGTGTA 1 -- int11Minor allele frequency- C:0.03WA 118
rs134187831,2
C,F--11275046(+) tccacT/Ctggct 1 -- int11Minor allele frequency- C:0.04WA 118

HapMap Linkage Disequilibrium report for C2orf50 (11273179 - 11286916 bp)

Structural Variations
     Database of Genomic Variants (DGV) 1 variation for C2orf50:    About this table     
Variant IDTypeSubtypePubMed ID
nsv520789CNV Loss19592680

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
  --

(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)
About This Section

PubMed articles for C2orf50 gene integrated from 9 sources:
(articles sorted by number of sources associating them with C2orf50)
    Utopia: connect your pdf to the dynamic
world of online information

  1. 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. (2002)
  2. Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid. (PubMed id 23319000)1 Luykx J.J....Ophoff R.A. (2013)
  3. A yeast two-hybrid screen reveals that osteopontin ass ociates with MAP1A and MAP1B in addition to other proteins linked to microtubule stability, apoptosis and protein degradation in the human brain. (PubMed id 22779921)1 Long P....Rose S. (2012)
  4. 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. (2004)
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section
 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)
About This Section
Entrez Gene: 130813 HGNC: 26324 AceView: FLJ25143 Ensembl:ENSG00000150873 euGenes: HUgn130813
ECgene: C2orf50 H-InvDB: C2orf50

(According to HUGE)
About This Section
  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
NameDescription
PharmGKB entry for C2orf50 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
About This Section
Patent Information for C2orf50 gene:
Search GeneIP for patents involving C2orf50

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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
About This Section

 
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GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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transforming growth factor, beta 1
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