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C12orf60 Gene

protein-coding   GIFtS: 39
GCID: GC12P014956

Chromosome 12 Open Reading Frame 60

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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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This gene clusters with an RNA gene
Subcategory (RNA class): antisense

Quality score for the ORGUL clustered with this gene is 3

Aliases
Chromosome 12 Open Reading Frame 601 2
Uncharacterized Protein C12orf602

External Ids:    HGNC: 287261   Entrez Gene: 1446082   Ensembl: ENSG000001829937   UniProtKB: Q5U6493   
ORGUL members:         

Export aliases for C12orf60 gene to outside databases

Previous GC identifers: GC12P014848 GC12P014725


(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 C12orf60 Gene:
C12orf60 (chromosome 12 open reading frame 60) 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000012.11  NT_009714.18  NC_018923.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the C12orf60 gene promoter:
         COUP-TF1   C/EBPbeta   MAZR   COUP   Olf-1   HNF-4alpha2   POU3F2   E47   HNF-4alpha1   COUP-TF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidC12orf60 promoter sequence
   Search Chromatin IP Primers for C12orf60

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C12orf60


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

Entrez Gene cytogenetic band: 12p12.3   Ensembl cytogenetic band:  12p12.3   HGNC cytogenetic band: 12p12.3

C12orf60 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C12orf60 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P014956:  view genomic region     (about GC identifiers)

Start:
14,956,506 bp from pter      End:
15,059,520 bp from pter
Size:
103,015 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: CL060_HUMAN, Q5U649 (See protein sequence)
Recommended Name: Uncharacterized protein C12orf60  
Size: 245 amino acids; 27626 Da
Secondary accessions: A8K1M7 Q5XKK8 Q8IXY2

Explore the universe of human proteins at neXtProt for C12orf60: NX_Q5U649

Explore proteomics data for C12orf60 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See C12orf60 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_787070.2  
    ENSEMBL proteins: 
     ENSP00000331691  

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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:
     IPR027895 DUF4533

    Graphical View of Domain Structure for InterPro Entry Q5U649

    ProtoNet protein and cluster: Q5U649


    Find genes that share domains with C12orf60           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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    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for C12orf60

    miRNA
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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
    extracellular1
    mitochondrion1
    nucleus1
    plasma membrane1

    (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 C12orf60
    Interactions:

        Search GeneGlobe Interaction Network for C12orf60

    (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 C12orf60 (CL060)



    (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 C12orf60 gene: 
    NM_175874.3  

    Unigene Cluster for C12orf60:

    Chromosome 12 open reading frame 60
    Hs.659951  [show with all ESTs]
    Unigene Representative Sequence: AK056213
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000330828(uc001rcj.4) ENST00000533472 ENST00000527783 ENST00000543822

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    Additional mRNA sequence: 

    AK056213.1 AK289942.1 AL833752.1 BC015546.1 BC029443.1 BC038836.1 

    4 DOTS entries:

    DT.209702  DT.433690  DT.92036029  DT.97847182 

    Selected AceView cDNA sequences (see all 39):

    AA716298 CR592987 BC015546 BE463680 BX114765 N93185 AA476339 AW105187 
    AI433454 AW273998 AI147650 AI916553 BG496006 AA744856 AL833752 AI301111 
    BI826546 AA861435 AA843630 BE890693 AA927197 AA476389 AI377715 AI688741 

    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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    C12orf60 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGCTATGTTA
    C12orf60 Expression
    About this image

    C12orf60 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    C12orf60 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.659951
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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 chordates.

    Orthologs for C12orf60 gene from Selected species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia BC0497151 , 5 cDNA sequence BC0497151, 5 69.27(n)1
    55.14(a)1
      6 (66.72 cM)5
    3201351  NM_178776.31  NP_848891.21 
     1368288435 
    lizard
    (Anolis carolinensis)
    Reptilia C12orf606
    chromosome 12 open reading frame 60
    27(a)
    1 ↔ 1
    5(27684518-27685294)


    ENSEMBL Gene Tree for C12orf60 (if available)
    TreeFam Gene Tree for C12orf60 (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 C12orf60 (see all 140)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs105560101,2
    C--14745879(+) CCACT-/ATGATAG 2 * M fra11Minor allele frequency- AT:0.00NA 2
    rs1832936421,2
    --14969222(+) ATCGTC/GTTTTA 1 -- int10--------
    rs1421422651,2
    --14969232(+) ATTTAA/GAATGC 1 -- int10--------
    rs1447610621,2
    C--14969330(+) CTGCCC/TGATTC 1 -- int10--------
    rs1132949161,2
    F--14969331(+) TGCCCG/AATTCA 1 -- int11Minor allele frequency- A:0.50CSA 2
    rs1485883341,2
    --14969341(+) AATTAC/TGATTG 1 -- int10--------
    rs1143152471,2
    F--14969439(+) CTCCTT/GTATCT 1 -- int11Minor allele frequency- G:0.03WA 118
    rs1923073251,2
    --14969515(+) CATTAA/GTTTTC 1 -- int10--------
    rs743461631,2
    C--14969562(+) CTCTTG/TCAAAA 1 -- int10--------
    rs1832235421,2
    --14969900(+) TCCAAC/TTCCTG 1 -- int10--------

    HapMap Linkage Disequilibrium report for C12orf60 (14956506 - 15059520 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for C12orf60:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2745588CNV Deletion23290073
    nsv898817CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing C12orf60
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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 C12orf60 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with C12orf60)
        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. Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity. (PubMed id 23449627)1 Cousminer D.L....WidAcn E. (Hum. Mol. 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: 144608 HGNC: 28726 AceView: MGC47869 Ensembl:ENSG00000182993 euGenes: HUgn144608
    ECgene: C12orf60 H-InvDB: C12orf60

    (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 C12orf60 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 C12orf60 gene:
    Search GeneIP for patents involving C12orf60

    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
    Advanced Cell Diagnostics, Animal models from genOway)
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      eBioscience FlowRNA Probe Sets
     genOway: Develop your customized and physiologically relevant rodent model for C12orf60
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