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

C12orf43 Gene

protein-coding   GIFtS: 43
GCID: GC12M121440          (predicted)

chromosome 12 open reading frame 43

  Search for C12orf43
in our new
 Human Malady Compendium 
Biological research products
for C12orf43
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Chromosome 12 Open Reading Frame 431 2
FLJ124481
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

Gene Wiki entry for C12orf43


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.1  NT_009775.17  
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:
121,440,243 bp from pter      End:
121,454,305 bp from pter
Size:
14,063 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q96C57

  • C12orf43 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    C12orf43 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR026694 UPF_C12orf43

    Graphical View of Domain Structure for InterPro Entry Q96C57

    ProtoNet protein and cluster: Q96C57


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

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


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 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, 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
    Search CenterWatch for drugs/clinical trials and news about C12orf43 / CL043 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
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    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

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    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
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    Additional cDNA 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):

    BM685927 CR604606 AI696291 CB068818 BE382680 CR618697 AW261897 BM704982 
    BG033395 BF970208 BU734570 AA307302 BM724029 BM663470 BU190005 AI289448 
    BP870746 BC014661 BG685157 BQ221045 AK022510 BM847867 BG325487 BG763053 

    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
    CGAP TAG: GCGAGACCCC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene 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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    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 3/10 species (see all 10)    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, UniProtKB, 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

    10/305 NCBI SNPs in C12orf43 are shown (see all 305    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1932459131,2
    --121440822(+) CTTTTA/CTTTTT 1 -- ds50010--------
    rs2012297801,2
    --121440828(+) TTTTC-/TTTTTT 1 -- ds50010--------
    rs666453351,2
    C--121440834(+) TTTTTT/CTTTTT 1 -- ds50012Minor allele frequency- C:0.00NA CSA 3
    rs1407300811,2
    C,--121440834(+) TTTTT-/CTTTTT 1 -- ds50010--------
    rs710766991,2
    C--121440835(+) TTTTTT/-GAGAT 1 -- ds50011Minor allele frequency- -:0.00NA 2
    rs1179547481,2
    F,--121440865(+) TGCTCC/TATTGC 1 -- ut312Minor allele frequency- T:0.10NA EA 240
    rs1175095701,2
    F,--121440878(+) AGGCTA/GGAGTG 1 -- ut312Minor allele frequency- G:0.15NA EA 240
    rs1836348011,2
    --121440891(+) GTGGCA/GCAATC 1 -- ut310--------
    rs1885823291,2
    --121440970(+) GATTAC/TGGGCG 1 -- ut310--------
    rs1431822371,2
    --121440993(+) CTCAGC/TTAATT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for C12orf43 (121440243 - 121454305 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for C12orf43
         1 CNV: 3899

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    (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.)
    About This Section

    C12orf43 for disorders           About MalaCards

    C12orf43 for disorders           About GeneDecksing

    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 14):
    (articles sorted by number of sources associating them with C12orf43)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    2. 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)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. Large-scale concatenation cDNA sequencing. (PubMed id 9110174)1, 3 Yu W.... Gibbs R.A. (1997)
    5. A "double adaptor" method for improved shotgun library construction. (PubMed id 8619474)1, 3 Andersson B.... Gibbs R.A. (1996)
    6. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    7. 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)
    8. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (2010)
    9. Genomics meets glycomics-the first GWAS study of huma n N-Glycome identifies HNF1I+ as a master regulator of plasma protein fucosylati on. (PubMed id 21203500)1 Lauc G....Rudan I. (2010)
    10. New susceptibility locus for coronary artery disease on chromosome 3q22.3. (PubMed id 19198612)1 Erdmann J....Schunkert H. (2009)

    (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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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
    About This Section

     
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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

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    VWF
    (GIFTS: 73)
    von Willebrand factor
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    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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