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C12orf45 Gene

protein-coding   GIFtS: 41
GCID: GC12P105380

Chromosome 12 Open Reading Frame 45

  Search for C12orf45
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 451 2
Uncharacterized Protein C12orf452

External Ids:    HGNC: 286281   Entrez Gene: 1210532   Ensembl: ENSG000001511317   UniProtKB: Q8N5I93   
ORGUL members:         

Export aliases for C12orf45 gene to outside databases

Previous GC identifers: GC12P103883 GC12P102439


(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 C12orf45 Gene:
C12orf45 (chromosome 12 open reading frame 45) 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:
NC_000012.12  NC_018923.2  NT_029419.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the C12orf45 gene promoter:
         SRF   SRF (504 AA)   FOXD1   Lmo2   MIF-1   SEF-1 (1)   Sox9   ATF6   En-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidC12orf45 promoter sequence
   Search Chromatin IP Primers for C12orf45

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C12orf45


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

C12orf45 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C12orf45 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P105380:  view genomic region     (about GC identifiers)

Start:
105,380,088 bp from pter      End:
105,443,515 bp from pter
Size:
63,428 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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: CL045_HUMAN, Q8N5I9 (See protein sequence)
Recommended Name: Uncharacterized protein C12orf45  
Size: 185 amino acids; 20123 Da
Sequence caution: Sequence=AAH32326.1; Type=Frameshift; Positions=185;

Explore the universe of human proteins at neXtProt for C12orf45: NX_Q8N5I9

Explore proteomics data for C12orf45 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See C12orf45 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_689531.2  
    ENSEMBL proteins: 
     ENSP00000447057   ENSP00000280749  

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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:
     IPR027921 DUF4598

    Graphical View of Domain Structure for InterPro Entry Q8N5I9

    ProtoNet protein and cluster: Q8N5I9


    C12orf45 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 C12orf45
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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
    nucleus3
    cytosol2

    (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 C12orf45
    Interactions:

        Search GeneGlobe Interaction Network for C12orf45

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    4 Interacting proteins for C12orf45 (Q8N5I93 ENSP000002807494) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RUVBL2Q9Y2303, ENSP000002214134I2D: score=1 STRING: ENSP00000221413
    RUVBL1Q9Y2653, ENSP000003182974I2D: score=1 STRING: ENSP00000318297
    BMXENSP000003087744STRING: ENSP00000308774
    TBC1D23ENSP000003406934STRING: ENSP00000340693
    About this table

    (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 C12orf45 (CL045)



    (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,
    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 C12orf45 gene: 
    NM_152318.2  

    Unigene Cluster for C12orf45:

    Chromosome 12 open reading frame 45
    Hs.295563  [show with all ESTs]
    Unigene Representative Sequence: BX447742
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000552951(uc001tlb.3) ENST00000280749 ENST00000548583
    miRNA
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    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat C12orf45
      QuantiFast Probe-based Assays in human, mouse, rat C12orf45

    Additional mRNA sequence: BC032326.1 

    2 DOTS entries:

    DT.100021072  DT.100774563 

    Selected AceView cDNA sequences (see all 75):

    CK904672 BM054801 AW016555 AA553681 AI280360 BU161006 AI141772 BU162050 
    AA010174 AA568551 AI140520 BU736692 BG337171 AA452572 AI971424 BM479007 
    AI005027 BM709922 AI139723 BG942680 N26868 N26867 BU928571 BE266517 

    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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    C12orf45 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCAAGCCCCA
    C12orf45 Expression
    About this image

    C12orf45 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    C12orf45 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.295563
        Custom PCR Arrays for C12orf45
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C12orf45

    (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 C12orf45 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia D10Wsu102e1 , 5 DNA segment, Chr 10, Wayne State University 102, expressed1, 5 71.92(n)1
    67.93(a)1
      10 (41.16 cM)5
    281091  NM_026579.31  NP_080855.11 
     833602215 
    chicken
    (Gallus gallus)
    Aves C12ORF451 chromosome 1 open reading frame, human C12orf45 63.29(n)
    53.38(a)
      418079  XM_416315.4  XP_416315.1 
    lizard
    (Anolis carolinensis)
    Reptilia C12orf456
    chromosome 12 open reading frame 45
    48(a)
    1 ↔ 1
    5(18696456-18700075)
    African clawed frog
    (Xenopus laevis)
    Amphibia CA982944.12   -- 73.52(n)    CA982944.1 
    zebrafish
    (Danio rerio)
    Actinopterygii si:dkey-48p11.31 si:dkey-48p11.3 50.84(n)
    48.92(a)
      566307  NM_001201412.1  NP_001188341.1 


    ENSEMBL Gene Tree for C12orf45 (if available)
    TreeFam Gene Tree for C12orf45 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for C12orf45 gene

    C12orf45 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for C12orf45
    PGOHUM00000245171


    (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 C12orf45 (see all 251)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs79701731,2
    C,F,A,H--105378181(+) tgggcA/Gcagga 1 -- us2k1 tfbs317Minor allele frequency- G:0.48NS EA NA WA CSA 781
    rs757451701,2
    F--105378195(+) GGGAAT/CGGCAG 1 -- us2k11Minor allele frequency- C:0.01WA 118
    rs1118071981,2
    C,F--105378221(+) TTTGGG/TCGAAA 1 -- us2k12Minor allele frequency- T:0.08CSA WA 119
    rs1922149991,2
    --105378222(+) TTGGGA/CGAAAA 1 -- us2k10--------
    rs125795811,2
    H--105378272(+) ctttaA/Gagtgg 1 -- us2k10--------
    rs1421748431,2
    --105378406(+) ACAGAC/TGCTCA 1 -- us2k10--------
    rs1839988371,2
    --105378420(+) AGTGAG/TCTGCC 1 -- us2k10--------
    rs1145459951,2
    C,F--105378446(+) TAAATG/TAATAA 1 -- us2k11Minor allele frequency- T:0.01WA 118
    rs1885407571,2
    --105378762(+) ATTAAA/GAAATG 1 -- us2k10--------
    rs755275971,2
    F--105378861(+) TAGAGA/CAATGC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for C12orf45 (105380088 - 105443515 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for C12orf45:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv869CNV Loss18451855
    nsv899498CNV Gain21882294
    nsv832505CNV Gain17160897
    nsv899495CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for C12orf45

    (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.)
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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 C12orf45 gene, integrated from 10 sources (see all 13):
    (articles sorted by number of sources associating them with C12orf45)
        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. 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. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    4. Toward an understanding of the protein interaction network of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (Mol. Syst. Biol. 2011)
    5. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    6. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (Sci. Signal. 2011)
    7. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (Sci. Signal. 2010)
    8. Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. (PubMed id 19413330)2 Gauci S....Mohammed S. (Anal. Chem. 2009)
    9. Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. (PubMed id 19690332)2 Mayya V.... Han D.K. (Sci. Signal. 2009)
    10. Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis. (PubMed id 18220336)2 Cantin G.T....Yates J.R. III (J. Proteome Res. 2008)

    (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: 121053 HGNC: 28628 AceView: MGC40397 Ensembl:ENSG00000151131 euGenes: HUgn121053
    ECgene: C12orf45 H-InvDB: C12orf45

    (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 C12orf45 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 C12orf45 gene:
    Search GeneIP for patents involving C12orf45

    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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