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C12orf75 Gene

protein-coding   GIFtS: 38
GCID: GC12P105629

Chromosome 12 Open Reading Frame 75

  See related diseases
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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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 751 2     OCC12
Adipogenesis Down-Regulated 31 2     Overexpressed In Colon Carcinoma 1 Protein2
AGD32 3     Overexpressed In Colon Carcinoma-12
OCC-12 3     Putative Overexpressed In Colon Carcinoma-1 Protein Variant C2
Overexpressed In Colon Carcinoma 11     

External Ids:    HGNC: 351641   Entrez Gene: 3878822   Ensembl: ENSG000002351627   UniProtKB: Q8TAD73   
ORGUL members:         

Export aliases for C12orf75 gene to outside databases

Previous GC identifers: GC12P104154 GC12P105724 GC12P102783


(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 C12orf75 Gene:
C12orf75 (chromosome 12 open reading frame 75) is a protein-coding gene. Diseases associated with C12orf75 include fainting, and cerebritis.


(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  NC_018923.2  NT_029419.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the C12orf75 gene promoter:
         AhR   ISGF-3   Olf-1   Arnt   Evi-1   AREB6   RORalpha1   STAT3   NF-Y   CBF(2)   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for C12orf75

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C12orf75


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

Entrez Gene cytogenetic band: 12q23.3   Ensembl cytogenetic band:  12q23.3   HGNC cytogenetic band: 12q23.3

C12orf75 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C12orf75 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P105629:  view genomic region     (about GC identifiers)

Start:
105,629,068 bp from pter      End:
105,789,875 bp from pter
Size:
160,808 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, 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: OCC1_HUMAN, Q8TAD7 (See protein sequence)
Recommended Name: Overexpressed in colon carcinoma 1 protein  
Size: 63 amino acids; 6407 Da
Caution: Was reported to be transcribed but not translated (PubMed:11890990). However, it was later shown that it
is expressed at protein level (PubMed:19531736)
Sequence caution: Sequence=AAH13920.2; Type=Erroneous translation; Note=Wrong choice of CDS; Sequence=AAH45812.1;
Type=Erroneous translation; Note=Wrong choice of CDS; Sequence=AAH61920.1; Type=Erroneous translation; Note=Wrong
choice of CDS; Sequence=AAH67897.1; Type=Erroneous translation; Note=Wrong choice of CDS; Sequence=CAC85391.1;
Type=Erroneous translation; Note=Wrong choice of CDS; Sequence=CAC85392.1; Type=Erroneous translation; Note=Wrong
choice of CDS;

Explore the universe of human proteins at neXtProt for C12orf75: NX_Q8TAD7

Explore proteomics data for C12orf75 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See C12orf75 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001138671.1  
    ENSEMBL proteins: 
     ENSP00000448536   ENSP00000447440   ENSP00000449096   ENSP00000450095  

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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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    ProtoNet protein and cluster: Q8TAD7

    UniProtKB/Swiss-Prot: OCC1_HUMAN, Q8TAD7
    Similarity: Belongs to the OCC1 family


    (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 C12orf75
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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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    (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 C12orf75
    Interactions:

        Search GeneGlobe Interaction Network for C12orf75

    (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 C12orf75 (OCC1)



    (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 C12orf75 gene (2 alternative transcripts): 
    NM_207376.1  NM_001145199.1  

    Unigene Cluster for C12orf75:

    Chromosome 12 open reading frame 75
    Hs.368938  [show with all ESTs]
    Unigene Representative Sequence: BC013920
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000548458 ENST00000443585(uc001tlh.4) ENST00000552457 ENST00000549893
    ENST00000546866 ENST00000549934 ENST00000548336
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate C12orf75 (see all 15):
    hsa-miR-203 hsa-miR-3163 hsa-miR-4307 hsa-miR-653 hsa-miR-548am hsa-miR-106a* hsa-miR-548aa hsa-miR-340
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      QuantiFast Probe-based Assays in human, mouse, rat C12orf75

    Additional mRNA sequence: 

    AB735446.1 AB735447.1 AJ311377.1 AJ311378.1 AK056999.1 BC013920.1 BC045812.1 BC061920.1 
    BC067897.1 BC126980.1 BC127012.1 BC131552.1 

    10 DOTS entries:

    DT.75199506  DT.97774903  DT.100790481  DT.100790486  DT.100790487  DT.95186456  DT.121114319  DT.430337 
    DT.92435275  DT.95349195 

    Selected AceView cDNA sequences (see all 230):

    BM068867 CA865489 BQ021766 AJ311378 BC061920 BM762303 BQ925287 AW666002 
    AA885508 CA443286 BQ021101 CR610289 AA677743 CR597208 BU679019 CB216453 
    AI337976 CR622507 AA810960 AI826719 BC045812 W78894 CB142606 CN481454 

    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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    C12orf75 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGCAACTACA
    C12orf75 Expression
    About this image


    C12orf75 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Liver (Hepatobiliary System)
             Hematopoietic Stem Cells Liver Bud
     
     Blood (Cardiovascular System)
             Hematopoietic Stem Cells Liver Bud
    C12orf75 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    C12orf75 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.368938

    UniProtKB/Swiss-Prot: OCC1_HUMAN, Q8TAD7
    Tissue specificity: High expression in placenta, skeletal muscle, kidney and pancreas tissues. Absent or very
    faint expression in heart, brain, lung and liver. Expressed during adipogenic differentiation of mesenchymal stem
    cells (at protein level)

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C12orf75

    (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 C12orf75 gene from Selected species (see all 4)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 1500009L16Rik5 RIKEN cDNA 1500009L16 gene   --   10 (41.30 cM) 83722865 
    chicken
    (Gallus gallus)
    Aves OCC-16
    Gallus gallus overexpressed in colon carcinoma 1 p...
    66(a)
    1 ↔ 1
    1(54142067-54158684)


    ENSEMBL Gene Tree for C12orf75 (if available)
    TreeFam Gene Tree for C12orf75 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for C12orf75 gene
    2 SIMAP similar genes for C12orf75 using alignment to 3 protein entries:     F8VQD4_HUMAN (see all proteins):
    OCC1    OCC-1

    C12orf75 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), 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 C12orf75 (see all 842)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs351858691,2
    C--105578815(+) TGTCA-/A/AA  
            
    AAAAA
    1 -- int10--------
    rs124247231,2
    C,F,H--105722457(+) caatgA/Gccttg 1 -- us2k15Minor allele frequency- G:0.00NS EA NA 406
    rs561527971,2
    C,F--105722465(+) TTGTTG/TTTGTC 1 -- us2k11Minor allele frequency- T:0.50WA 2
    rs73163241,2
    C,F,A,H--105722529(+) tatagG/Agtggc 1 -- us2k127Minor allele frequency- A:0.31NS EA NA WA CSA 2767
    rs1164018131,2
    C,F--105722660(+) CAAGTG/ATCCTA 1 -- us2k11Minor allele frequency- A:0.01WA 118
    rs1384868221,2
    --105722704(+) AGGAGA/GATATC 1 -- us2k10--------
    rs1419638911,2
    --105722877(+) CCACAC/GCTAAT 1 -- us2k10--------
    rs786945151,2
    C,F--105722896(+) GGAGAA/GTGCTG 1 -- us2k11Minor allele frequency- G:0.03WA 118
    rs791651091,2
    F--105723026(+) TCAGGG/AAAGTC 1 -- us2k11Minor allele frequency- A:0.06WA 118
    rs752556091,2
    --105723044(+) TTTTTG/TTTTTG 1 -- us2k11Minor allele frequency- T:0.50CSA 2

    HapMap Linkage Disequilibrium report for C12orf75 (105629068 - 105789875 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for C12orf75:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2746323CNV Deletion23290073
    nsv510589CNV Loss20534489
    nsv510316CNV Loss20534489
    nsv899500CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing C12orf75
    DNA2.0 Custom Variant and Variant Library Synthesis for C12orf75

    (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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    2 diseases for C12orf75:    
    About MalaCards
    fainting    cerebritis


    C12orf75 for disorders           About GeneDecksing

    Genetic Association Database (GAD): C12orf75

    Export disorders for C12orf75 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 C12orf75 gene, integrated from 10 sources (see all 14):
    (articles sorted by number of sources associating them with C12orf75)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Transcripts of unknown function in multiple-signaling pathways involved in human stem cell differentiation. (PubMed id 19531736)1, 2, 3 Kikuchi K.... Aizawa Y. (Nucleic Acids Res. 2009)
    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. Cloning of the mRNA of overexpression in colon carcinoma-1: a sequence overexpressed in a subset of colon carcinomas. (PubMed id 11890990)1, 2 Pibouin L.... Goubin G. (Cancer Genet. Cytogenet. 2002)
    4. APOE and BCHE as modulators of cerebral amyloid deposition: a florbetapir PET genome-wide association study. (PubMed id 23419831)1 Ramanan V.K....Saykin A.J. (Mol. Psychiatry 2013)
    5. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (EMBO J. 2009)
    6. Genome-wide association with bone mass and geometry in the Framingham Heart Study. (PubMed id 17903296)4 Kiel D.P....Karasik D. (BMC Med. Genet. 2007)
    7. A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study. (PubMed id 17903299)4 Kathiresan S....Cupples L.A. (BMC Med. Genet. 2007)
    8. Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project. (PubMed id 17903300)4 Fox C.S....Atwood L.D. (BMC Med. Genet. 2007)
    9. Framingham Heart Study 100K project: genome-wide associations for cardiovascular disease outcomes. (PubMed id 17903304)4 Larson M.G....Levy D. (BMC Med. Genet. 2007)
    10. Genome-wide association with diabetes-related traits in the Framingham Heart Study. (PubMed id 17903298)4 Meigs J.B....Dupuis J. (BMC Med. Genet. 2007)

    (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: 387882 HGNC: 35164 AceView: LOC387882 Ensembl:ENSG00000235162 euGenes: HUgn387882
    ECgene: C12orf75 H-InvDB: C12orf75

    (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 C12orf75 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 C12orf75 gene:
    Search GeneIP for patents involving C12orf75

    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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