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

C12orf56 Gene

protein-coding   GIFtS: 36
GCID: GC12M064661

chromosome 12 open reading frame 56
  Search for C12orf56
in
MalaCards
our new
 Human Malady Compendium 
Biological research products
for C12orf56    

Aliases
for C12orf56 gene

(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 561 2
Uncharacterized Protein C12orf562

External Ids:    HGNC: 269671   Entrez Gene: 1157492   Ensembl: ENSG000001853067   UniProtKB: Q8IXR93   

Export aliases for C12orf56 gene to outside databases

Previous GC identifers: GC12M062948 GC12M061713


Summaries
for C12orf56 gene

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

Genomic Views
for C12orf56 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 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_029419.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C12orf56 gene promoter:
         C/EBPbeta   Pbx1a   MyoD   Pax-2   CUTL1   Pax-2a   E47   N-Myc   ATF6   Hlf   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for C12orf56

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C12orf56


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

C12orf56 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C12orf56 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M064661:  view genomic region     (about GC identifiers)

Start:
 64,660,763 bp from pter      End:
 64,784,471 bp from pter
Size:
 123,709 bases      Orientation:
 minus strand

Proteins
for C12orf56 gene

(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: CL056_HUMAN, Q8IXR9 (See protein sequence)
Recommended Name: Uncharacterized protein C12orf56  
Size: 622 amino acids; 71046 Da
Alternative splicing: 2 isoforms:  Q8IXR9-1   Q8IXR9-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for C12orf56: NX_Q8IXR9

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8IXR9

    • C12orf56 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001093146.1  NP_001164104.1  

    ENSEMBL proteins: 
     ENSP00000329698   ENSP00000446101   ENSP00000443341  

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    Protein Domains /
    Families
    for C12orf56 gene

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

    ProtoNet protein and cluster: Q8IXR9


    Function
    for C12orf56 gene

    (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 C12orf56:
     Synthetic lethal with Ras 


    Pathways & Interactions
    for C12orf56 gene

    (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 C12orf56

    Drugs & Compounds
    for C12orf56 gene

    (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 C12orf56
    Search CenterWatch for drugs/clinical trials and news about C12orf56 / CL056 

    Transcripts
    for C12orf56 gene

    (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 C12orf56 gene (2 alternative transcripts): 
    NM_001099676.2  NM_001170633.1  

    Unigene Cluster for C12orf56:

    Chromosome 12 open reading frame 56
    Hs.535190  [show with all ESTs]
    Unigene Representative Sequence: NM_001170633
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000535515 ENST00000542397(uc001srz.3) ENST00000536975(uc001sry.3)
    ENST00000333722(uc001ssa.4) ENST00000543942(uc021qzu.1) ENST00000541802
    ENST00000541613 ENST00000543259

    miRNA
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    hsa-miR-3143 hsa-miR-543
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    Inhib. RNA
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    Clone
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    Additional cDNA sequence: 

    BC014352.1 BC015121.1 BC039369.1 

    5 DOTS entries:

    DT.121176749  DT.75100718  DT.95366682  DT.121176762  DT.100747090 

    21 AceView cDNA sequences:

    BI462190 AI635775 BM694463 BC039369 BX089271 AI522132 BC014352 BC015121 
    AI468255 AW450302 AI632021 BI830702 R66203 AI473408 AI242842 BF029659 
    BE566584 R67081 BF028589 BE565136 BE565030 

    GeneLoc Exon Structure


    Expression
    for C12orf56 gene

    (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

    C12orf56 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CCAGCCTTGC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    C12orf56 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 6 LifeMap Cells 
    NameCategory
    PureStem™ myogenic progenitor Z11 (Embryonic Progenitor Cell)Heart, Myocardium, Smooth Muscle
    PureStem™ mesenchymal Progenitor SK11 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ progenitor EN13 (Embryonic Progenitor Cell)
    PureStem™ progenitor EN7 (Embryonic Progenitor Cell)
    PureStem™ progenitor SM22 (Embryonic Progenitor Cell)
    PureStem™ progenitor W8 (Embryonic Progenitor Cell)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See C12orf56 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C12orf56

    SOURCE GeneReport for Unigene cluster: Hs.535190
        SABiosciences Custom PCR Arrays for C12orf56
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    In Situ
    Assay Products:     
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    Orthologs
    for C12orf56 gene

    (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 C12orf56 gene from 2/8 species (see all 8)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia D930020B18Rik1 , 5 RIKEN cDNA D930020B18 gene1, 5 79.72(n)1
    75.89(a)1    		   10 (69.89 cM)5
    2163931  NM_177335.41  NP_796309.31 
     1216415885 
    zebrafish
    (Danio rerio)    		 Actinopterygii LOC1003302131 uncharacterized LOC100330213 48.5(n)
    36.16(a)    		   100330213  XM_002661359.1  XP_002661405.1 


    ENSEMBL Gene Tree for C12orf56 (if available)
    TreeFam Gene Tree for C12orf56 (if available) 

    Paralogs
    for C12orf56 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    		  --

    Genomic Variants
    for C12orf56 gene

    (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

    10/2052 NCBI SNPs in C12orf56 are shown (see all 2052)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 12 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1916658261,2
    		--64660888(+) AAAAAA/TGTTTC 2 -- ut310--------
    rs1841237671,2
    		C,--64660896(+) TTCTCG/ATGAAT 2 -- ut311Minor allele frequency- A:0.00EU 569
    rs1885711901,2
    		--64660955(+) ACATTG/TTTTGT 2 -- ut310--------
    rs1500722381,2
    		C,--64660970(+) ATTCAA/GCCAAT 4 A V mis10--------
    rs1443824921,2
    		--64661123(+) TTCACA/GTTGGT 2 -- int10--------
    rs1149810371,2
    		F,--64661199(+) GGTCAG/ACATTT 2 -- int11Minor allele frequency- A:0.09WA 118
    rs16570571,2
    		C,H,--64661209(+) TTCAGC/ATCTCC 2 -- int15Minor allele frequency- A:0.02WA NA 130
    rs16570581,2
    		C,H,--64661210(+) TCAGAC/TCTCCA 2 -- int17Minor allele frequency- T:0.01WA NA EA 368
    rs1486194581,2
    		--64661304(+) GACATA/GTGGAC 2 -- int10--------
    rs79567261,2
    		C,F,A,H,--64661374(+) TGAGGT/AGTTGA 2 -- int126Minor allele frequency- A:0.30NS EA NA WA 2886

    HapMap Linkage Disequilibrium report for C12orf56 (64660763 - 64784471 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for C12orf56
         1 CNV: 49120
         1 Indel: 25052

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    Disorders / Diseases
    for C12orf56 gene

    (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
    C12orf56 for disorders           About MalaCards

    C12orf56 for disorders           About GeneDecksing

    Human Genome Epidemiology (HuGE) Navigator: C12orf56 (2 documents)

    Export disorders for C12orf56 gene to outside databases

    Publications
    for C12orf56 gene

    (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 C12orf56 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with C12orf56)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    2. The finished DNA sequence of human chromosome 12. (PubMed id 16541075)2 Scherer S.E.... Gibbs R.A. (2006)
    3. 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. (2004)
    4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

    External Searches for C12orf56 gene

    (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)

    Genome Databases showing C12orf56 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 115749 HGNC: 26967 AceView: LOC115749 Ensembl:ENSG00000185306 euGenes: HUgn115749
    ECgene: C12orf56 H-InvDB: C12orf56

    Other Databases showing C12orf56 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing C12orf56 gene

    (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 C12orf56 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for C12orf56 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for C12orf56 gene:
    Search GeneIP for patents involving C12orf56

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    Products
    for C12orf56 gene

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    About This Section

     
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