Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



C12orf5 Gene

protein-coding   GIFtS: 50
GCID: GC12P004430

Chromosome 12 Open Reading Frame 5

  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)
About This Section

TryGeneCards Plus

Aliases
Chromosome 12 Open Reading Frame 51 2     Fructose-2,6-Bisphosphate 2-Phosphatase2
TP53-Induced Glycolysis And Apoptosis Regulator1 2 3     Probable Fructose-2,6-Bisphosphatase TIGAR2
TIGAR2 5     Transactivated By NS3TP2 Protein2
FR2BP2     EC 3.1.3.463
Fructose-2,6-Bisphosphatase TIGAR2     

External Ids:    HGNC: 11851   Entrez Gene: 571032   Ensembl: ENSG000000782377   OMIM: 6107755   UniProtKB: Q9NQ883   

Export aliases for C12orf5 gene to outside databases

Previous GC identifers: GC12P004167 GC12P004322 GC12P004300


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

TryGeneCards Plus

Entrez Gene summary for C12orf5 Gene:
This gene is regulated as part of the p53 tumor suppressor pathway and encodes a protein with sequence similarity
to the bisphosphate domain of the glycolytic enzyme that degrades fructose-2,6-bisphosphate. The protein
functions by blocking glycolysis and directing the pathway into the pentose phosphate shunt. Expression of this
protein also protects cells from DNA damaging reactive oxygen species and provides some protection from DNA
damage-induced apoptosis. The 12p13.32 region that includes this gene is paralogous to the 11q13.3 region.
(provided by RefSeq, Jul 2008)

GeneCards Summary for C12orf5 Gene:
C12orf5 (chromosome 12 open reading frame 5) is a protein-coding gene. Diseases associated with C12orf5 include rickets, and major depressive disorder. GO annotations related to this gene include fructose-2,6-bisphosphate 2-phosphatase activity.

UniProtKB/Swiss-Prot: TIGAR_HUMAN, Q9NQ88
Function: Fructose-bisphosphatase hydrolyzing fructose-2,6-bisphosphate as well as fructose-1,6-bisphosphate.
Inhibits glycolysis by reducing cellular levels of fructose-2,6-bisphosphate. May protect cells against reactive
oxygen species and against apoptosis induced by tp53

Gene Wiki entry for C12orf5 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)
About This Section

TryGeneCards Plus
RefSeq DNA sequence:
NC_000012.12  NT_009759.17  NC_018923.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the C12orf5 gene promoter:
         E2F-4   E2F-3a   E2F-5   p300   E2F-2   CBF-C   E2F   E2F-1   CP1A   CP1C   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for C12orf5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C12orf5


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

Entrez Gene cytogenetic band: 12p13.3   Ensembl cytogenetic band:  12p13.32   HGNC cytogenetic band: 12p13.32

C12orf5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C12orf5 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P004430:  view genomic region     (about GC identifiers)

Start:
4,430,359 bp from pter      End:
4,469,194 bp from pter
Size:
38,836 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.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: TIGAR_HUMAN, Q9NQ88 (See protein sequence)
Recommended Name: Fructose-2,6-bisphosphatase TIGAR  
Size: 270 amino acids; 30063 Da
Subunit: Monomer (By similarity)
Caution: Not expected to have any kinase activity
1 PDB 3D structure from and Proteopedia for C12orf5:
3DCY (3D)    
Secondary accessions: B2R840

Explore the universe of human proteins at neXtProt for C12orf5: NX_Q9NQ88

Explore proteomics data for C12orf5 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See C12orf5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_065108.1  
    ENSEMBL proteins: 
     ENSP00000179259  

    C12orf5 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for C12orf5
    OriGene Protein Over-expression Lysate for C12orf5
    OriGene MassSpec for C12orf5
    OriGene Custom Protein Services for C12orf5
    GenScript Custom Purified and Recombinant Proteins Services for C12orf5
    Novus Biologicals C12orf5 Proteins
    Novus Biologicals C12orf5 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

    C12orf5 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of C12orf5
    R&D Systems Antibodies for C12orf5 (TIGAR/C12orf5)
    OriGene Antibodies for C12orf5
    OriGene Custom Antibody Services for C12orf5
    Novus Biologicals C12orf5 Antibodies
    Search for Antibodies for C12orf5 at Abcam
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibodies for C12orf5
    LSBio Antibodies in human, mouse, rat for C12orf5

    C12orf5 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for C12orf5
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for C12orf5
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


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

    TryGeneCards Plus
    2 InterPro protein domains:
     IPR001345 PG/BPGM_mutase_AS
     IPR013078 His_Pase_superF_clade-1

    Graphical View of Domain Structure for InterPro Entry Q9NQ88

    ProtoNet protein and cluster: Q9NQ88

    1 Blocks protein domain: IPB001345 Phosphoglycerate/bisphosphoglycerate mutase

    UniProtKB/Swiss-Prot: TIGAR_HUMAN, Q9NQ88
    Similarity: Belongs to the phosphoglycerate mutase family


    C12orf5 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.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TIGAR_HUMAN, Q9NQ88
    Function: Fructose-bisphosphatase hydrolyzing fructose-2,6-bisphosphate as well as fructose-1,6-bisphosphate.
    Inhibits glycolysis by reducing cellular levels of fructose-2,6-bisphosphate. May protect cells against reactive
    oxygen species and against apoptosis induced by tp53
    Catalytic activity: Beta-D-fructose 2,6-bisphosphate + H(2)O = D-fructose 6-phosphate + phosphate
    Induction: Rapidly up-regulated by p53/TP53

         Enzyme Number (IUBMB): EC 3.1.3.461

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004331fructose-2,6-bisphosphate 2-phosphatase activity IEA--
         
    C12orf5 for ontologies           About GeneDecksing


    Phenotypes:
         9 MGI mutant phenotypes (inferred from 4 alleles(MGI details for 9630033F20Rik):
     cardiovascular system  cellular  digestive/alimentary  homeostasis/metabolism  immune system 
     mortality/aging  muscle  no phenotypic analysis  tumorigenesis 

    C12orf5 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out 9630033F20Riktm1.2Smat for C12orf5

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for C12orf5
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for C12orf5

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for C12orf5
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for C12orf5

    miRNA
    Products:
        
    miRTarBase miRNAs that target C12orf5:
    hsa-mir-193b-3p (MIRT041240), hsa-mir-26b-5p (MIRT030058), hsa-mir-34a-5p (MIRT025394)

    Block miRNA regulation of human, mouse, rat C12orf5 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate C12orf5 (see all 14):
    hsa-miR-875-3p hsa-miR-188-5p hsa-miR-605 hsa-miR-410 hsa-miR-520a-5p hsa-miR-211 hsa-miR-144 hsa-miR-204
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for C12orf5
    Predesigned siRNA for gene silencing in human, mouse, rat C12orf5

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for C12orf5

    Clone
    Products:
         
    OriGene clones in human, mouse for C12orf5 (see all 7)
    OriGene ORF clones in mouse, rat for C12orf5
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: C12orf5 (NM_020375)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for C12orf5
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C12orf5

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for C12orf5
    Browse ESI BIO Cell Lines and PureStem Progenitors for C12orf5 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C12orf5


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    mitochondrion2
    chloroplast1
    endoplasmic reticulum1
    nucleus1
    vacuole1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular IDA--

    C12orf5 for ontologies           About GeneDecksing


    (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).
    About This Section

    TryGeneCards Plus

    SuperPaths for C12orf5 About    
    See pathways by source

    SuperPathContained pathways About
    1Fructose and mannose metabolism
    Fructose and mannose metabolism
    2Direct p53 effectors
    Direct p53 effectors

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for C12orf5
        Direct p53 effectors


    1 Kegg Pathway  (Kegg details for C12orf5):
        Fructose and mannose metabolism


    C12orf5 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for C12orf5
    Interactions:

        Search GeneGlobe Interaction Network for C12orf5

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for C12orf5 (ENSP000001792594) via UniProtKB, MINT, STRING, and/or I2D (see all 33)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FBP1ENSP000003644754STRING: ENSP00000364475
    HK2ENSP000002905734STRING: ENSP00000290573
    HK3ENSP000002924324STRING: ENSP00000292432
    HKDC1ENSP000003466434STRING: ENSP00000346643
    PFKLENSP000002698484STRING: ENSP00000269848
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0010666positive regulation of cardiac muscle cell apoptotic process IEA--
    GO:1901525negative regulation of macromitophagy IEA--
    GO:2000378negative regulation of reactive oxygen species metabolic process IEA--

    C12orf5 for ontologies           About GeneDecksing



    (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)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for C12orf5 (TIGAR)



    (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 )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for C12orf5 gene: 
    NM_020375.2  

    Unigene Cluster for C12orf5:

    Chromosome 12 open reading frame 5
    Hs.504545  [show with all ESTs]
    Unigene Representative Sequence: NM_020375
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000179259(uc001qmp.3) ENST00000539671 ENST00000537251
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat C12orf5 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate C12orf5 (see all 14):
    hsa-miR-875-3p hsa-miR-188-5p hsa-miR-605 hsa-miR-410 hsa-miR-520a-5p hsa-miR-211 hsa-miR-144 hsa-miR-204
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for C12orf5
    Predesigned siRNA for gene silencing in human, mouse, rat C12orf5
    Clone
    Products:
         
    OriGene clones in human, mouse for C12orf5 (see all 7)
    OriGene ORF clones in mouse, rat for C12orf5
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: C12orf5 (NM_020375)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for C12orf5
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C12orf5
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for C12orf5
    OriGene qSTAR qPCR primer pairs in human, mouse for C12orf5
    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat C12orf5
      QuantiTect SYBR Green Assays in human, mouse, rat C12orf5
      QuantiFast Probe-based Assays in human, mouse, rat C12orf5

    Additional mRNA sequence: 

    AJ272206.1 AK313226.1 AY425618.1 BC012340.1 

    5 DOTS entries:

    DT.441019  DT.99960633  DT.100725881  DT.408307  DT.95161847 

    Selected AceView cDNA sequences (see all 100):

    CR613889 AI435416 AA503851 AI949681 AI341056 AI805174 AW466953 AI376293 
    AI803333 AA903744 AI741732 AI861829 CK820201 BQ011607 AI625405 AI889011 
    BE463938 AA570142 AA897774 AI928246 AI968331 AW104400 F09684 AW236937 

    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)
    About This Section

    TryGeneCards Plus

    C12orf5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTATATTGA
    C12orf5 Expression
    About this image


    C12orf5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Brain (Nervous System)    fully expand to see all 15 entries
             Thalamus
             Septum   
    C12orf5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    C12orf5 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.504545
        Custom PCR Arrays for C12orf5
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for C12orf5
    OriGene qSTAR qPCR primer pairs in human, mouse for C12orf5
    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat C12orf5
    QuantiTect SYBR Green Assays in human, mouse, rat C12orf5
    QuantiFast Probe-based Assays in human, mouse, rat C12orf5
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C12orf5

    (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

    TryGeneCards Plus

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for C12orf5 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 9630033F20Rik1 , 5 RIKEN cDNA 9630033F20 gene1, 5 75.56(n)1
    73.31(a)1
      6 (61.92 cM)5
    3198011  NM_177003.51  NP_795977.11 
     1270851165 
    chicken
    (Gallus gallus)
    Aves C1H12ORF51 chromosome 1 open reading frame, human C12orf5 67.18(n)
    60.15(a)
      419040  XM_417232.4  XP_417232.1 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia c12orf51 chromosome 12 open reading frame 5 58.77(n)
    53.38(a)
      100145723  NM_001127097.1  NP_001120569.1 
    zebrafish
    (Danio rerio)
    Actinopterygii C4H12orf5 (1 of 2)6
    C25H12orf5 (2 of 2)6
    chromosome 12 open reading frame 5
    39(a)
    38(a)
    many → 1
    many → 1
    4(5029366-5035126) ENSDARG00000045858
    25(17320028-17326978) ENSDARG00000051749
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes --
    Phosphatase with a broad substrate specificity and...
    27(a)
    1 ↔ 1
    XV(847453-848145) YOR283W


    ENSEMBL Gene Tree for C12orf5 (if available)
    TreeFam Gene Tree for C12orf5 (if available)

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

    TryGeneCards Plus
      --

    (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)
    About This Section

    TryGeneCards Plus

    Selected SNPs for C12orf5 (see all 878)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs73131341,2
    C,F--4428410(+) gtgatA/Gttaca 1 -- us2k16Minor allele frequency- G:0.13NA CSA WA EA 363
    rs1449899681,2
    C--4428714(+) ATTTTC/TTTTTT 1 -- us2k10--------
    rs97399061,2
    C,F,A,H--4428721(+) ttttaA/Gttctc 1 -- us2k1 tfbs34Minor allele frequency- G:0.00NS EA 418
    rs1829709891,2
    --4428784(+) GTGAGC/TGCACA 1 -- us2k10--------
    rs1419456921,2
    --4428826(+) CCTGAC/TGCACG 1 -- us2k10--------
    rs97377061,2
    C,F,A--4428845(+) gctgcT/Agtgta 1 -- us2k11Minor allele frequency- A:0.03WA 118
    rs1863074761,2
    --4428907(+) TGATGA/GGGGTG 1 -- us2k10--------
    rs1902793591,2
    --4428923(+) TTTGGC/TGGGAA 1 -- us2k10--------
    rs762143731,2
    F--4428968(+) GGTGGC/AGTAGG 1 -- us2k12Minor allele frequency- A:0.50NA CSA 4
    rs1825283651,2
    --4429228(+) GCAGGC/TGCCTG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for C12orf5 (4430359 - 4469194 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for C12orf5:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv523578CNV Loss19592680
    nsv528492CNV Loss19592680
    nsv468985CNV Loss19166990
    nsv519278CNV Loss19592680
    nsv832317CNV Gain17160897
    esv275025CNV Gain+Loss21479260

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing C12orf5
    DNA2.0 Custom Variant and Variant Library Synthesis for C12orf5

    (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

    TryGeneCards Plus
    OMIM gene information: 610775    OMIM disorders: --

    10 diseases for C12orf5:    
    About MalaCards
    rickets    major depressive disorder    lymphoblastic leukemia    chronic lymphocytic leukemia
    hypoxia    leukemia    colorectal cancer    cerebritis
    breast cancer    endotheliitis


    C12orf5 for disorders           About GeneDecksing

    Genetic Association Database (GAD): C12orf5

    Export disorders for C12orf5 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

    TryGeneCards Plus

    PubMed articles for C12orf5 gene, integrated from 10 sources (see all 42):
    (articles sorted by number of sources associating them with C12orf5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. TIGAR, a p53-inducible regulator of glycolysis and apoptosis. (PubMed id 16839880)1, 2, 3 Bensaad K.... Vousden K.H. (Cell 2006)
    2. Modulation of intracellular ROS levels by TIGAR controls autophagy. (PubMed id 19713938)1, 3 Bensaad K....Vousden K.H. (EMBO J. 2009)
    3. Germline genomic variants associated with childhood acute lymphoblastic leukemia. (PubMed id 19684603)1, 4 Trevino L.R.... Relling M.V. (Nat. Genet. 2009)
    4. Identification of TIGAR in the equilibrative nucleoside transporter 2-mediated response to fludarabine in chronic lymphocytic leukemia cells. (PubMed id 18945750)1, 3 LA^pez-Guerra M....Pastor-Anglada M. (Haematologica 2008)
    5. Identification of novel p53 target genes in ionizing radiation response. (PubMed id 16140933)1, 3 Jen K.Y. and Cheung V.G. (Cancer Res. 2005)
    6. 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)
    7. Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23. (PubMed id 11062477)1, 2 White K.E.... Strom T.M. (Nat. Genet. 2000)
    8. Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies. (PubMed id 23377640)1 (Am J Psychiatry 2013)
    9. CREB, another culprit for TIGAR promoter activity and expression. (PubMed id 24036271)1 Zou S....Luo J. (Biochem. Biophys. Res. Commun. 2013)
    10. Two p53-related metabolic regulators, TIGAR and SCO2, contribute to oroxylin A-mediated glucose metabolism in human hepatoma HepG2 cells. (PubMed id 23612020)1 Dai Q....Guo Q. (amp 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     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

    TryGeneCards Plus
    Entrez Gene: 57103 HGNC: 1185 AceView: C12orf5 Ensembl:ENSG00000078237 euGenes: HUgn57103
    ECgene: C12orf5 Kegg: 57103 H-InvDB: C12orf5

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for C12orf5 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for C12orf5 gene:
    Search GeneIP for patents involving C12orf5

    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)
    About This Section

    TryGeneCards Plus

     Browse Purified and Recombinant Proteins at EMD Millipore
     EMD Millipore Mono- and Polyclonal Antibodies for the study of C12orf5
     Browse Small Molecules at EMD Millipore
     Browse Kits and Assays available from EMD Millipore
     
     EMD Millipore genomic analysis products

      
     Antibodies for C12orf5 (TIGAR/C12orf5)   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for C12orf5   OriGene RNAi products in human, mouse, rat for C12orf5  
     OriGene qPCR primer pairs and template standards for C12orf5   OriGene Protein Over-expression Lysate for C12orf5  
     OriGene MassSpec something-or-other for C12orf5   OriGene clones in human, mouse for C12orf5  
     OriGene qSTAR qPCR primer pairs in human, mouse for C12orf5   OriGene Purified Protein for C12orf5  
     OriGene ORF clones in mouse, rat for C12orf5   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for C12orf5   OriGene Custom Protein Services for C12orf5  

     
     
     Block miRNA regulation of human, mouse, rat C12orf5 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing C12orf5
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C12orf5 Predesigned siRNA for gene silencing in human, mouse, rat C12orf5
     QuantiFast Probe-based Assays in human, mouse, rat C12orf5 QuantiTect SYBR Green Assays in human, mouse, rat C12orf5
     Custom PCR Arrays for C12orf5 Search Chromatin IP Primers for C12orf5
     Pre-validated RT2 qPCR Primer Assay in human, mouse / rat C12orf5  Search GeneGlobe Interaction Network for C12orf5
     Regulatory tfbs in C12orf5 promoter
     GenScript Custom Purified and Recombinant Proteins Services for C12orf5 GenScript cDNA clones with any tag delivered in your preferred vector for C12orf5
     GenScript Custom Assay Services for C12orf5 GenScript Custom overexpressing Cell Line Services for C12orf5
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for C12orf5 (TIGAR)
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     C12orf5 antibodies
     C12orf5 proteins
     C12orf5 lysates
     Search for Antibodies for C12orf5 at Abcam
     See all of Abcam's Antibodies, Kits and Proteins for C12orf5
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Browse Proteins at Cloud-Clone Corp.
     Browse Antibodies at Cloud-Clone Corp.
     Browse ELISAs at Cloud-Clone Corp.
     Browse CLIAs at Cloud-Clone Corp.



     Browse ESI BIO Cell Lines and PureStem Progenitors for C12orf5
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C12orf5
     Browse SwitchGear 3'UTR luciferase reporter plasmids for C12orf5
     Browse SwitchGear Promoter luciferase reporter plasmids for C12orf5
     ThermoFisher Antibodies for C12orf5
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C12orf5
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for C12orf5
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for C12orf5
     LSBio Antibodies in human, mouse, rat for C12orf5
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 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 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      C12orf5 gene at Home site.
    Version: 3.12.166 28 Aug 2014
    hostname: 356980-web2.xennexinc.com index build: 126 solr: 1.4