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

C12orf50 Gene

protein-coding   GIFtS: 40
GCID: GC12M088373

Chromosome 12 Open Reading Frame 50

  Search for C12orf50
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 12 Open Reading Frame 501 2
Uncharacterized Protein C12orf502

External Ids:    HGNC: 266651   Entrez Gene: 1604192   Ensembl: ENSG000001658057   UniProtKB: Q8NA573   

Export aliases for C12orf50 gene to outside databases

Previous GC identifers: GC12M086877 GC12M085440


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

GeneCards Summary for C12orf50 Gene: 
C12orf50 (chromosome 12 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_000012.11  NT_029419.12  NC_018923.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C12orf50 gene promoter:
         C/EBPbeta   FOXF2   POU2F1   POU2F1a   HSF1short   FOXD3   E4BP4   MRF-2   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for C12orf50

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C12orf50


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

Entrez Gene cytogenetic band: 12q21.32   Ensembl cytogenetic band:  12q21.32   HGNC cytogenetic band: 12q21.32

C12orf50 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C12orf50 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M088373:  view genomic region     (about GC identifiers)

Start:
88,373,816 bp from pter      End:
88,427,814 bp from pter
Size:
53,999 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: CL050_HUMAN, Q8NA57 (See protein sequence)
Recommended Name: Uncharacterized protein C12orf50  
Size: 414 amino acids; 47326 Da
Secondary accessions: Q6P674

Explore the universe of human proteins at neXtProt for C12orf50: NX_Q8NA57

Explore proteomics data for C12orf50 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8NA57

  • C12orf50 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    C12orf50 Protein Expression
    REFSEQ proteins: NP_689802.1  
    ENSEMBL proteins: 
     ENSP00000298699   ENSP00000448344   ENSP00000448855  

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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: Q8NA57


    (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

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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 C12orf50

    (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 C12orf50 (CL050)

    Search CenterWatch for drugs/clinical trials and news about C12orf50 / CL050

    (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 C12orf50 gene: 
    NM_152589.1  

    Unigene Cluster for C12orf50:

    Chromosome 12 open reading frame 50
    Hs.112930  [show with all ESTs]
    Unigene Representative Sequence: AL833338
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000298699(uc001tam.1) ENST00000550553 ENST00000551944(uc001tan.3)
    ENST00000551163 ENST00000546547
    miRNA
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    hsa-miR-374a*
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    Inhib. RNA
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    Additional mRNA sequence: 

    AK093140.1 AL833338.1 BC038413.2 BC062424.1 

    3 DOTS entries:

    DT.410165  DT.92068063  DT.121159052 

    24/28 AceView cDNA sequences (see all 28):

    AA953070 AX747948 BC062424 NM_152589 BP370599 AA923573 AK093140 AA620994 
    BG722396 AL833338 BU570651 BU854391 AI024225 AI139603 BG208169 AA885079 
    AW340321 BI828587 BC038413 AA813709 AW104614 BG724254 BU854121 BU852150 

    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

    C12orf50 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TATTAAATGC
    C12orf50 Expression
    About this image


    See C12orf50 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C12orf50

    SOURCE GeneReport for Unigene cluster: Hs.112930
        SABiosciences Custom PCR Arrays for C12orf50
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C12orf50

    (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 C12orf50 gene from 4/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 1700017N19Rik1 , 5 RIKEN cDNA 1700017N19 gene1, 5 85.88(n)1
    82.57(a)1
      10 (51.51 cM)5
    666051  NM_001081246.11  NP_001074715.11 
     1005923865 
    chicken
    (Gallus gallus)
    Aves C1H12orf501 chromosome 1 open reading frame, human C12orf50 60.63(n)
    47.08(a)
      417885  XM_416128.3  XP_416128.2 
    lizard
    (Anolis carolinensis)
    Reptilia --
    C12orf506
    (see all 3)
    chromosome 12 open reading frame 50
    (see all 3)
    9(a)
    43(a)
    (see all 3)
    possible ortholog
    1 ↔ 1
    (see all 3)
    4(118062486-118098807)
    5(33549975-33577396)
    zebrafish
    (Danio rerio)
    Actinopterygii C11H12orf506
    chromosome 12 open reading frame 50
    7(a)
    1 → many
    11(25013444-25023175)


    ENSEMBL Gene Tree for C12orf50 (if available)
    TreeFam Gene Tree for C12orf50 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for C12orf50 gene
    1 SIMAP similar gene for C12orf50 using alignment to 4 protein entries:     CL050_HUMAN (see all proteins):
    ZC3H11A

    C12orf50 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

    10/1061 SNPs in C12orf50 are shown (see all 1061)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1385532461,2
    --88373318(+) AATATG/TTATGC 1 -- ds50010--------
    rs788661441,2
    C,F--88373374(+) CACCAT/GGTTAT 1 -- ds50012Minor allele frequency- G:0.13CSA WA 120
    rs1413430511,2
    --88373474(+) TGAATA/CTAGCA 1 -- ds50010--------
    rs123043511,2
    C,F,A,H--88373570(+) TACCAT/CGCATT 1 -- ds500111Minor allele frequency- C:0.34NS EA NA WA CSA 662
    rs1931810131,2
    --88373576(+) GCATTA/GAAGTG 1 -- ds50010--------
    rs1133344121,2
    C,F--88373782(+) TGTGTA/GATCTA 1 -- ds50013Minor allele frequency- G:0.14CSA WA 121
    rs1503854631,2
    C--88373789(+) TCTAAC/TTTGGT 1 -- ds50010--------
    rs1380230131,2
    C--88373882(+) CCTACA/CTAAAT 1 -- ut310--------
    rs1134374291,2
    C--88374072(+) GGCAAT/-TTTTT 1 -- ut311Minor allele frequency- -:0.50CSA 2
    rs1851452571,2
    C--88374121(+) TCCCAC/TTTCTT 2 N S mis10--------

    HapMap Linkage Disequilibrium report for C12orf50 (88373816 - 88427814 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for C12orf50:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2746171CNV Deletion23290073
    esv2746169CNV Deletion23290073
    esv2746170CNV Deletion23290073

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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

    C12orf50 for disorders           About MalaCards

    C12orf50 for disorders           About GeneDecksing

    Genetic Association Database (GAD): C12orf50
    Human Genome Epidemiology (HuGE) Navigator: C12orf50 (1 document)

    Export disorders for C12orf50 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 C12orf50 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with C12orf50)
        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. (2004)
    2. 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)
    3. The global gene-expression profiles of U-937 human mac rophages treated with Tat peptide and Tat-FITC conjugate. (PubMed id 22632162)1 Lin C.W....Jan M.S. (2012)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    5. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
    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. (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: 160419 HGNC: 26665 AceView: FLJ35821 Ensembl:ENSG00000165805 euGenes: HUgn160419
    ECgene: C12orf50 H-InvDB: C12orf50

    (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 C12orf50 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 C12orf50 gene:
    Search GeneIP for patents involving C12orf50

    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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    (GIFtS: 73)
    transforming growth factor, beta 1
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