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

C12orf43 Gene

protein-coding   GIFtS: 44
GCID: GC12M121440

Chromosome 12 Open Reading Frame 43

  Search for C12orf43
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 431 2
Uncharacterized Protein C12orf432

External Ids:    HGNC: 257191   Entrez Gene: 648972   Ensembl: ENSG000001578957   UniProtKB: Q96C573   

Export aliases for C12orf43 gene to outside databases

Previous GC identifers: GC12M119904 GC12M118449


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

GeneCards Summary for C12orf43 Gene: 
C12orf43 (chromosome 12 open reading frame 43) is a protein-coding gene.

Gene Wiki entry for C12orf43 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_009775.17  NC_018923.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C12orf43 gene promoter:
         STAT1   RFX1   STAT1beta   CUTL1   STAT5A   STAT1alpha   Gfi-1   Ik-2   Zic1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidC12orf43 promoter sequence
   Search SABiosciences Chromatin IP Primers for C12orf43

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C12orf43


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

Entrez Gene cytogenetic band: 12q   Ensembl cytogenetic band:  12q24.31   HGNC cytogenetic band: 12q24.31

C12orf43 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C12orf43 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M121440:  view genomic region     (about GC identifiers)

Start:
121,440,225 bp from pter      End:
121,454,305 bp from pter
Size:
14,081 bases      Orientation:
minus 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: CL043_HUMAN, Q96C57 (See protein sequence)
Recommended Name: Uncharacterized protein C12orf43  
Size: 262 amino acids; 28171 Da
Secondary accessions: Q53HF0 Q9H9Z7

Explore the universe of human proteins at neXtProt for C12orf43: NX_Q96C57

Explore proteomics data for C12orf43 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96C57

  • C12orf43 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    C12orf43 Protein Expression
    REFSEQ proteins: NP_075046.1  
    ENSEMBL proteins: 
     ENSP00000409788   ENSP00000442224   ENSP00000437546   ENSP00000443642   ENSP00000437803  
     ENSP00000442041   ENSP00000438856   ENSP00000439393   ENSP00000288757   ENSP00000444399  

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    Cloud-Clone Corp. CLIAs for C12orf43


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR026694 UPF_C12orf43

    Graphical View of Domain Structure for InterPro Entry Q96C57

    ProtoNet protein and cluster: Q96C57


    C12orf43 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,
    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

    Phenotypes:
         1 GenomeRNAi human phenotype for C12orf43:
     Synthetic lethal with c-Myc af 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for C12orf43 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for C12orf43 
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    SwitchGear 3'UTR luciferase reporter plasmidC12orf43 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C12orf43


    (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 C12orf43

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for C12orf43 (ENSP000002887574) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TERF1ENSP000002766034STRING: ENSP00000276603
    About this table

    (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 C12orf43 (CL043)

    Search CenterWatch for drugs/clinical trials and news about C12orf43 / CL043

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    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 C12orf43 gene: 
    NM_022895.1  

    Unigene Cluster for C12orf43:

    Chromosome 12 open reading frame 43
    Hs.528671  [show with all ESTs]
    Unigene Representative Sequence: BC014661
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000445832 ENST00000502891 ENST00000537817 ENST00000536407 ENST00000546272
    ENST00000539736 ENST00000538296 ENST00000535367 ENST00000539088 ENST00000508193
    ENST00000288757(uc001tzh.1 uc009zxa.1 uc010szo.1 uc010szp.1 uc001tzi.1)
    ENST00000366211
    miRNA
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    8/10 QIAGEN miScript miRNA Assays for microRNAs that regulate C12orf43 (see all 10):
    hsa-miR-3194-5p hsa-miR-1321 hsa-miR-146b-3p hsa-miR-1324 hsa-miR-432 hsa-miR-544b hsa-miR-378* hsa-miR-1914
    SwitchGear 3'UTR luciferase reporter plasmidC12orf43 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat C12orf43
    Clone
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    OriGene ORF clones in mouse, rat for C12orf43
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                         Customized lentivirus expression plasmids for stable overexpression of C12orf43 
    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat C12orf43
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C12orf43

    Additional mRNA sequence: 

    AK022510.1 AK222630.1 AK225162.1 AK299170.1 AK301566.1 AK307971.1 BC009736.1 BC014661.1 

    5 DOTS entries:

    DT.423415  DT.95360079  DT.100785095  DT.97772304  DT.100785094 

    24/110 AceView cDNA sequences (see all 110):

    BM724029 BP870746 AA307302 AI696291 CB068818 BM685927 BM704982 BM663470 
    CR604606 BF970208 BE382680 BU734570 AI289448 CR618697 BG033395 AW261897 
    BU190005 BP346858 BG325575 NM_022895 BC014661 BG325487 BU526977 AA350755 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for C12orf43 (see all 6)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b · 6c · 6d
    SP1:                          -           -           -                                       
    SP2:                          -           -           -                                       
    SP3:                          -                       -                                       
    SP4:                                      -           -                                       
    SP5:                          -     -     -           -                                       


    ECgene alternative splicing isoforms for C12orf43

    (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

    C12orf43 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCGAGACCCC
    C12orf43 Expression
    About this image


    See C12orf43 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C12orf43

    SOURCE GeneReport for Unigene cluster: Hs.528671
        SABiosciences Custom PCR Arrays for C12orf43
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for C12orf43
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C12orf43
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C12orf43

    (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 C12orf43 gene from 3/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 2210016L21Rik1 , 5 RIKEN cDNA 2210016L21 gene1, 5 76.15(n)1
    69.57(a)1
      5 (55.99 cM)5
    723571  NM_028211.11  NP_082487.11 
     1149421585 
    chicken
    (Gallus gallus)
    Aves C15H12orf431 chromosome 15 open reading frame, human C12orf43 55.69(n)
    48.15(a)
      416966  XM_415259.3  XP_415259.3 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:1620251 zgc:162025 50.63(n)
    46.19(a)
      571775  NM_001089426.1  NP_001082895.1 


    ENSEMBL Gene Tree for C12orf43 (if available)
    TreeFam Gene Tree for C12orf43 (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

    10/374 SNPs in C12orf43 are shown (see all 374)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0304914
    ----see VAR_0304912 G R mis40--------
    rs634383601,2
    C--118453060(+) AGACA-/TAGTAAA 1 -- int12Minor allele frequency- TA:0.00NA CSA 4
    rs710766991,2
    C--121238993(+) TTTTTT/-GAGAT 1 -- ds50011Minor allele frequency- -:0.00NA 2
    rs1932459131,2
    --121440822(+) CTTTTA/CTTTTT 1 -- ds50010--------
    rs2012297801,2
    --121440828(+) TTTTC-/TTTTTT 1 -- ds50010--------
    rs19227641,2
    C--121440834(-) AAAAAA/GAAAAA 1 -- ds50012Minor allele frequency- G:0.00NA CSA 3
    rs1407300811,2
    C--121440834(+) TTTTTC/-TTTTT 1 -- ds50011Minor allele frequency- -:0.00NA 2
    rs1179547481,2
    C,F--121440865(+) TGCTCC/TATTGC 1 -- ut312Minor allele frequency- T:0.10NA EA 240
    rs1175095701,2
    C,F--121440878(+) AGGCTA/GGAGTG 1 -- ut312Minor allele frequency- G:0.15NA EA 240
    rs1836348011,2
    --121440891(+) GTGGCA/GCAATC 1 -- ut310--------

    HapMap Linkage Disequilibrium report for C12orf43 (121440225 - 121454305 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for C12orf43:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv521928CNV Gain19592680
    nsv899559CNV Gain21882294
    nsv832531CNV Gain17160897
    dgv1496n71CNV Gain21882294
    dgv529e1CNV Complex17122850

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    (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

    C12orf43 for disorders           About MalaCards

    C12orf43 for disorders           About GeneDecksing

    Genetic Association Database (GAD): C12orf43
    Human Genome Epidemiology (HuGE) Navigator: C12orf43 (2 documents)

    Export disorders for C12orf43 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)
    About This Section

    PubMed articles for C12orf43 gene, integrated from 9 sources (see all 16):
    (articles sorted by number of sources associating them with C12orf43)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. New susceptibility locus for coronary artery disease on chromosome 3q22.3. (PubMed id 19198612)1, 4 Erdmann J....Schunkert H. (2009)
    2. Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes. (PubMed id 18940312)1, 4 Yuan X....Mooser V. (2008)
    3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    4. 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)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. Large-scale concatenation cDNA sequencing. (PubMed id 9110174)1, 3 Yu W.... Gibbs R.A. (1997)
    7. A "double adaptor" method for improved shotgun library construction. (PubMed id 8619474)1, 3 Andersson B.... Gibbs R.A. (1996)
    8. Genome-wide association and population genetic analysi s of C-reactive protein in African American and Hispanic American women. (PubMed id 22939635)1 Reiner A.P....Tang H. (2012)
    9. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    10. Genome-wide YFP fluorescence complementation screen id entifies new regulators for telomere signaling in human cells. (PubMed id 21044950)1 Lee O.H....Songyang Z. (2011)

    (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: 64897 HGNC: 25719 AceView: FLJ12448 Ensembl:ENSG00000157895 euGenes: HUgn64897
    ECgene: C12orf43 H-InvDB: C12orf43

    (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 C12orf43 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 C12orf43 gene:
    Search GeneIP for patents involving C12orf43

    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
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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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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