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C12orf66 Gene

protein-coding   GIFtS: 42
GCID: GC12M064581

Chromosome 12 Open Reading Frame 66

  See related disease
at  

(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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Aliases
Chromosome 12 Open Reading Frame 661 2
UPF0536 Protein C12orf662

External Ids:    HGNC: 265171   Entrez Gene: 1445772   Ensembl: ENSG000001742067   UniProtKB: Q96MD23   

Export aliases for C12orf66 gene to outside databases

Previous GC identifers: GC12M062867 GC12M061638


(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 C12orf66 Gene:
C12orf66 (chromosome 12 open reading frame 66) is a protein-coding gene. Diseases associated with C12orf66 include hepatocellular carcinoma.


(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:
NC_000012.12  NT_029419.13  NC_018923.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the C12orf66 gene promoter:
         Spz1   RFX1   AML1a   MyoD   MIF-1   GATA-1   Max   MZF-1   c-Myc   ATF6   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for C12orf66

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C12orf66


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

Entrez Gene cytogenetic band: 12q14.2   Ensembl cytogenetic band:  12q14.2   HGNC cytogenetic band: 12q14.2

C12orf66 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C12orf66 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M064581:  view genomic region     (about GC identifiers)

Start:
64,580,096 bp from pter      End:
64,616,076 bp from pter
Size:
35,981 bases      Orientation:
minus 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CL066_HUMAN, Q96MD2 (See protein sequence)
Recommended Name: UPF0536 protein C12orf66  
Size: 445 amino acids; 50415 Da
Secondary accessions: C9JX54 Q8IYA0

Explore the universe of human proteins at neXtProt for C12orf66: NX_Q96MD2

Explore proteomics data for C12orf66 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See C12orf66 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_689653.3  
    ENSEMBL proteins: 
     ENSP00000311486   ENSP00000445481   ENSP00000381132  

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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:
     IPR018544 DUF2003

    Graphical View of Domain Structure for InterPro Entry Q96MD2

    ProtoNet protein and cluster: Q96MD2

    UniProtKB/Swiss-Prot: CL066_HUMAN, Q96MD2
    Similarity: Belongs to the UPF0536 family


    C12orf66 for domains           About GeneDecksing


    (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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for C12orf66
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    hsa-mir-19b-3p (MIRT031216)

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    hsa-miR-4291 hsa-miR-142-5p hsa-miR-922 hsa-miR-513a-3p hsa-miR-340 hsa-miR-511 hsa-miR-135b hsa-miR-9
    SwitchGear 3'UTR luciferase reporter plasmidC12orf66 3' UTR sequence
    Inhib. RNA
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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
    nucleus2
    peroxisome2

    (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 C12orf66
    Interactions:

        Search GeneGlobe Interaction Network for C12orf66

    (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 C12orf66 (CL066)



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for C12orf66 gene: 
    NM_152440.4  

    Unigene Cluster for C12orf66:

    Chromosome 12 open reading frame 66
    Hs.505871  [show with all ESTs]
    Unigene Representative Sequence: NM_152440
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000311915 ENST00000544871 ENST00000398055(uc001srw.4) ENST00000540673

    miRNA
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    hsa-miR-4291 hsa-miR-142-5p hsa-miR-922 hsa-miR-513a-3p hsa-miR-340 hsa-miR-511 hsa-miR-135b hsa-miR-9
    SwitchGear 3'UTR luciferase reporter plasmidC12orf66 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat C12orf66
      QuantiFast Probe-based Assays in human, mouse, rat C12orf66

    Additional mRNA sequence: 

    AK057111.1 AK129933.1 BC071634.1 

    4 DOTS entries:

    DT.441897  DT.40129189  DT.408180  DT.75136603 

    Selected AceView cDNA sequences (see all 65):

    BM785226 AV653957 BG529673 AI885871 BM998922 CR604240 CR620910 AI298834 
    NM_152440 AI253207 BX385725 BG390525 F09586 AA179483 BM839224 BX355747 
    BE545061 BX355748 AA179524 BM794476 BG176963 AW235048 BE909300 AA918088 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for C12orf66    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5
    SP1:                    -                 -     -         
    SP2:              -     -                                 
    SP3:                    -                                 
    SP4:                                                      


    ECgene alternative splicing isoforms for C12orf66

    (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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    C12orf66 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    C12orf66 Expression
    About this image

    C12orf66 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    C12orf66 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.505871
        Custom PCR Arrays for C12orf66
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C12orf66

    (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 C12orf66 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia BC0484031 , 5 cDNA sequence BC0484031, 5 89.21(n)1
    94.83(a)1
      10 (69.94 cM)5
    2708021  NM_173022.21  NP_766610.21 
     1217399375 
    chicken
    (Gallus gallus)
    Aves C1H12ORF661 chromosome 1 open reading frame, human C12orf66 83.3(n)
    93.71(a)
      417822  XM_416063.4  XP_416063.1 
    lizard
    (Anolis carolinensis)
    Reptilia C12orf666
    chromosome 12 open reading frame 66
    88(a)
    1 ↔ 1
    5(50527945-50541723)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.239152 Xenopus laevis transcribed sequences 77.81(n)    BU914557.1 
    zebrafish
    (Danio rerio)
    Actinopterygii si:ch211-125a15.11 si:ch211-125a15.1 71.94(n)
    77.29(a)
      555715  NM_001030090.3  NP_001025261.3 


    ENSEMBL Gene Tree for C12orf66 (if available)
    TreeFam Gene Tree for C12orf66 (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 C12orf66 (see all 558)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1437724801,2
    C--64422831(+) GGTCTC/TGCTCT 1 -- ds50010--------
    rs128171371,2
    A--64422858(+) tgcagC/Ttgcac 1 -- ds50010--------
    rs1481292761,2
    C--64422861(+) AGCTGC/TACAGT 1 -- ds50010--------
    rs128171451,2
    H--64422867(+) acagtC/Atcagc 1 -- ds50014Minor allele frequency- A:0.00NS EA 420
    rs1420101391,2
    --64422949(+) TCACCC/TGTCAC 1 -- ds50010--------
    rs1867907421,2
    --64422957(+) CACTAC/TAACCG 1 -- ds50010--------
    rs1915939921,2
    --64422961(+) ACAACC/TGGCCA 1 -- ds50010--------
    rs1838392101,2
    C--64422962(+) CAACCA/GGCCAA 1 -- ds50010--------
    rs1502699691,2
    --64423046(+) TCCACA/GCGTCT 1 -- ds50010--------
    rs1876829801,2
    --64423076(+) GATTAC/TAGGCG 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for C12orf66 (64580096 - 64616076 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for C12orf66:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1536875CNV Insertion17803354

    Human Gene Mutation Database (HGMD): C12orf66
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing C12orf66
    DNA2.0 Custom Variant and Variant Library Synthesis for C12orf66

    (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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    1 disease for C12orf66:    
    About MalaCards
    hepatocellular carcinoma


    C12orf66 for disorders           About GeneDecksing

    Genetic Association Database (GAD): C12orf66

    Export disorders for C12orf66 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)
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    PubMed articles for C12orf66 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with C12orf66)
        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. (Nat. Genet. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    3. The finished DNA sequence of human chromosome 12. (PubMed id 16541075)2 Scherer S.E.... Gibbs R.A. (Nature 2006)
    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. (Genome Res. 2004)
    5. Insight into hepatocellular carcinogenesis at transcriptome level by comparing gene expression profiles of hepatocellular carcinoma with those of corresponding noncancerous liver. (PubMed id 11752456)1 Xu X.R.... Han Z.G. (Proc. Natl. Acad. Sci. U.S.A. 2001)

    (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: 144577 HGNC: 26517 AceView: FLJ32549 Ensembl:ENSG00000174206 euGenes: HUgn144577
    ECgene: C12orf66 H-InvDB: C12orf66

    (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 C12orf66 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 C12orf66 gene:
    Search GeneIP for patents involving C12orf66

    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, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, 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 inGenious Targeting Laboratory, genOway)
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