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

C4orf50 Gene

protein-coding   GIFtS: 33
GCID: GC04M005958

Chromosome 4 Open Reading Frame 50

  Search for C4orf50
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 4 Open Reading Frame 501 2
Uncharacterized Protein C4orf502

External Ids:    HGNC: 337661   Entrez Gene: 3891972   Ensembl: ENSG000001812157   UniProtKB: Q6ZRC13   

Export aliases for C4orf50 gene to outside databases

Previous GC identifers: GC04M006009 GC04M005899


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

GeneCards Summary for C4orf50 Gene: 
C4orf50 (chromosome 4 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_000004.11  NT_006051.18  NC_018915.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C4orf50 gene promoter:
         LHX3b/Lhx3b   Tal-1   AP-4   E47   AREB6   PPAR-gamma1   LHX3a/Lhx3a   PPAR-gamma2   ZID   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for C4orf50

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C4orf50


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

Entrez Gene cytogenetic band: 4p16.2   Ensembl cytogenetic band:  4p16.2   HGNC cytogenetic band: 4p16.1

C4orf50 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C4orf50 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M005958:  view genomic region     (about GC identifiers)

Start:
5,958,839 bp from pter      End:
5,991,545 bp from pter
Size:
32,707 bases      Orientation:
minus 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: CD050_HUMAN, Q6ZRC1 (See protein sequence)
Recommended Name: Uncharacterized protein C4orf50  
Size: 276 amino acids; 30622 Da

Explore the universe of human proteins at neXtProt for C4orf50: NX_Q6ZRC1

Explore proteomics data for C4orf50 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q6ZRC1

  • C4orf50 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    C4orf50 Protein Expression

    ENSEMBL proteins: 
     ENSP00000437121   ENSP00000317287  

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

    ProtoNet protein and cluster: Q6ZRC1


    (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 C4orf50

    (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 C4orf50 (CD050)

    Search CenterWatch for drugs/clinical trials and news about C4orf50 / CD050

    (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,
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    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 C4orf50 gene: 
    NM_207405.1  

    Unigene Cluster for C4orf50:

    Chromosome 4 open reading frame 50
    Hs.479065  [show with all ESTs]
    Unigene Representative Sequence: XM_003118524
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000531445(uc003git.2) ENST00000324058
    miRNA
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    Additional mRNA sequence: 

    AK128339.1 BC140710.1 XM_003118524.1 

    1 DOTS entry:

    DT.40310552 

    13 AceView cDNA sequences:

    Z40860 AK127243 F07774 R20834 D25271 AI949401 AK055457 BX648674 
    AK128339 NM_207405 R42014 D81859 BF943730 

    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™, 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

    C4orf50 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTCCCCTCTG
    C4orf50 Expression
    About this image


    See C4orf50 Protein Expression from SPIRE MOPED and PaxDB
    SOURCE GeneReport for Unigene cluster: Hs.479065
        SABiosciences Custom PCR Arrays for C4orf50
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C4orf50

    (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 human and mouse.

    Orthologs for C4orf50 gene from 1/5 species (see all 5)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gm10435 predicted gene 1043   --   5 (19.84 cM) 37185897 


    ENSEMBL Gene Tree for C4orf50 (if available)
    TreeFam Gene Tree for C4orf50 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for C4orf50 gene
    1 SIMAP similar gene for C4orf50 using alignment to 2 protein entries:     CD050_HUMAN (see all proteins):
    FLJ46481

    C4orf50 for paralogs           About GeneDecksing



    (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

    10/1004 SNPs in C4orf50 are shown (see all 1004)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0426814
    A breast cancer sample4--see VAR_0426812 A P mis40--------
    rs339248221,2
    C--5904060(+) AAACG-/AGAATT 1 -- int10--------
    rs1490818281,2
    C--5905863(+) GTGGC-/AGGAGG 1 -- int10--------
    rs1995750821,2
    --5936638(+) CAACC-/CTCTCCT 1 -- ds50010--------
    rs1138758251,2
    C--5936640(+) ACCCTCTC/-CTCTG 1 -- ds50011Minor allele frequency- -:0.50CSA 2
    rs1999219401,2
    C--5936641(+) CCCTCC/TCCTCT 1 -- ds50010--------
    rs776466481,2
    C,F--5936663(+) ACGCCG/AAGGTG 1 -- ds50012Minor allele frequency- A:0.08CSA WA 119
    rs668414481,2
    C,F--5936689(+) GTGGCG/AGAGGG 1 -- ds50016Minor allele frequency- A:0.29WA CSA NA 245
    rs782170441,2
    C,F--5936712(+) CGCAGG/AGTTTA 1 -- ds50012Minor allele frequency- A:0.03WA NA 238
    rs168379061,2
    C,F,H--5936765(+) AGTCCG/TTGTGA 1 -- ds500120Minor allele frequency- T:0.11NA NS EA WA 2436

    HapMap Linkage Disequilibrium report for C4orf50 (5958839 - 5991545 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for C4orf50: --
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing C4orf50
    DNA2.0 Custom Variant and Variant Library Synthesis for C4orf50

    (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

    C4orf50 for disorders           About MalaCards

    C4orf50 for disorders           About GeneDecksing

    Genetic Association Database (GAD): C4orf50
    Human Genome Epidemiology (HuGE) Navigator: C4orf50 (1 document)

    Export disorders for C4orf50 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)
    About This Section

    PubMed articles for C4orf50 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with C4orf50)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    2. The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974)2 Sjoeblom T.... Velculescu V.E. (2006)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)
    4. 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. (2002)

    (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: 389197 HGNC: 33766 AceView: FLJ46481 Ensembl:ENSG00000181215 euGenes: HUgn389197
    ECgene: C4orf50 H-InvDB: C4orf50

    (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 C4orf50 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 C4orf50 gene:
    Search GeneIP for patents involving C4orf50

    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
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    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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    Category
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    transforming growth factor, beta 1
    GIFtS Group
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    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

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