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

C12orf60 Gene

protein-coding   GIFtS: 36
GCID: GC12P014956

Chromosome 12 Open Reading Frame 60

  Search for C12orf60
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 601 2
Uncharacterized Protein C12orf602

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

Export aliases for C12orf60 gene to outside databases

Previous GC identifers: GC12P014848 GC12P014725


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

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NT_009714.17  NC_018923.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for C12orf60

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: 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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q5U649

  • C12orf60 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    C12orf60 Protein Expression
    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)
    About This Section

    ProtoNet protein and cluster: Q5U649


    (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 C12orf60

    (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 C12orf60 (CL060)

    Search CenterWatch for drugs/clinical trials and news about 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,
    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 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 

    24/39 AceView cDNA sequences (see all 39):

    CR592987 BE463680 AI433454 AA716298 AI916553 BX114765 AI147650 AW105187 
    N93185 AW273998 AA476339 BC015546 AI301111 BQ013336 W38931 BC038836 
    AA843630 AI247449 AA861435 AA476389 BE890693 AI688741 BI826546 AI377715 

    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

    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


    See C12orf60 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C12orf60

    SOURCE GeneReport for Unigene cluster: Hs.659951
        SABiosciences Custom PCR Arrays for C12orf60
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C12orf60

    (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 C12orf60 gene from 2/7 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 69.96(n)1
    55.14(a)1
      6 (66.72 cM)5
    3201351  NM_178776.31  NP_848891.21 
     1368288435 
    lizard
    (Anolis carolinensis)
    Reptilia C12ORF606
    Uncharacterized protein
    26(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)
    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

    10/140 SNPs in C12orf60 are shown (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

    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing C12orf60
    DNA2.0 Custom Variant and Variant Library Synthesis for C12orf60

    (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 C12orf60 gene integrated from 9 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. (2004)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (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. (2002)
    4. Genome-wide association and longitudinal analyses reve al genetic loci linking pubertal height growth, pubertal timing and childhood ad iposity. (PubMed id 23449627)1 Cousminer D.L....Widen E. (2013)

    (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: 144608 HGNC: 28726 AceView: MGC47869 Ensembl:ENSG00000182993 euGenes: HUgn144608
    ECgene: C12orf60 H-InvDB: C12orf60

    (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 C12orf60 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 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, 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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     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C12orf60
     inGenious Targeting Laboratory - Custom generated mouse model solutions for C12orf60
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for C12orf60
    Customized:
     lentivirus for stable overexpression of C12orf60
     lentivirus expression plasmids for stable overexpression of C12orf60
     adenovirus for overexpression of C12orf60
     Search LSBio for Antibodies for C12orf60
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
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     Tissue-specific gene expresssion
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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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