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FOXC2 Gene

protein-coding   GIFtS: 59
GCID: GC16P086600

Forkhead Box C2 (MFH-1, Mesenchyme Forkhead 1)


(Previous symbol: FKHL14)
  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)
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Aliases
Forkhead Box C2 (MFH-1, Mesenchyme Forkhead 1)1 2     LD2
FKHL141 2 3 5     MFH-12
MFH12 3 5     Forkhead Box Protein C22
Forkhead-Related Protein FKHL142 3     Forkhead, Drosophila, Homolog-Like 142
Mesenchyme Fork Head Protein 12 3     MFH-1,Mesenchyme Forkhead 12
Transcription Factor FKH-142 3     MFH-1 Protein3

External Ids:    HGNC: 38011   Entrez Gene: 23032   Ensembl: ENSG000001766927   OMIM: 6024025   UniProtKB: Q999583   

Export aliases for FOXC2 gene to outside databases

Previous GC identifers: GC16P077956 GC16P087633 GC16P086341 GC16P086382 GC16P085158 GC16P072340


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for FOXC2 Gene:
This gene belongs to the forkhead family of transcription factors which is characterized by a distinct DNA-binding
forkhead domain. The specific function of this gene has not yet been determined; however, it may play a role in
the development of mesenchymal tissues. (provided by RefSeq, Jul 2008)

GeneCards Summary for FOXC2 Gene:
FOXC2 (forkhead box C2 (MFH-1, mesenchyme forkhead 1)) is a protein-coding gene. Diseases associated with FOXC2 include arachnoiditis, and varicose veins. GO annotations related to this gene include transcription factor binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is FOXA2.

UniProtKB/Swiss-Prot: FOXC2_HUMAN, Q99958
Function: Transcriptional activator. Might be involved in the formation of special mesenchymal tissues

Gene Wiki entry for FOXC2 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_000016.10  NC_018927.2  NT_010498.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the FOXC2 gene promoter:
         MyoD   Pax-4a   C/EBPalpha   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for FOXC2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FOXC2


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

Entrez Gene cytogenetic band: 16q24.1   Ensembl cytogenetic band:  16q24.1   HGNC cytogenetic band: 16q24.1

FOXC2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FOXC2 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P086600:  view genomic region     (about GC identifiers)

Start:
86,600,857 bp from pter      End:
86,602,539 bp from pter
Size:
1,683 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: FOXC2_HUMAN, Q99958 (See protein sequence)
Recommended Name: Forkhead box protein C2  
Size: 501 amino acids; 53719 Da
1 PDB 3D structure from and Proteopedia for FOXC2:
1D5V (3D)    
Secondary accessions: C6KMR9 Q14DA6

Explore the universe of human proteins at neXtProt for FOXC2: NX_Q99958

Explore proteomics data for FOXC2 at MOPED

Post-translational modifications: 

  • Phosphorylation regulates FOXC2 transcriptional activity by promoting its recruitment to chromatin1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See FOXC2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_005242.1  
    ENSEMBL proteins: 
     ENSP00000326371  

    FOXC2 Human Recombinant Protein Products:

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    Novus Biologicals FOXC2 Proteins
    Novus Biologicals FOXC2 Lysate
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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for FOXC2

    FOXC2 Antibody Products:

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    Novus Biologicals FOXC2 Antibodies
    Abcam antibodies for FOXC2
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    ThermoFisher Antibody for FOXC2
    LSBio Antibodies in human, mouse, rat for FOXC2

    FOXC2 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for FOXC2
    Cloud-Clone Corp. CLIAs for FOXC2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    FOX: Forkhead boxes

    3 InterPro protein domains:
     IPR011991 WHTH_DNA-bd_dom
     IPR018122 TF_fork_head_CS
     IPR001766 TF_fork_head

    Graphical View of Domain Structure for InterPro Entry Q99958

    ProtoNet protein and cluster: Q99958

    UniProtKB/Swiss-Prot: FOXC2_HUMAN, Q99958
    Similarity: Contains 1 fork-head DNA-binding domain


    FOXC2 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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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: FOXC2_HUMAN, Q99958
    Function: Transcriptional activator. Might be involved in the formation of special mesenchymal tissues

         Genatlas biochemistry entry for FOXC2:
    transcription factor-like 14,with a Drosophila homeo forkhead DNA binding domain homolog,homolog to mouse
    mesenchyme forkhead 1 (MFH-1)

         Gene Ontology (GO): Selected molecular function terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001077RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IDA--
    GO:0003677DNA binding ----
    GO:0003690double-stranded DNA binding IBA--
    GO:0003700sequence-specific DNA binding transcription factor activity IDA9169153
    GO:0003705RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity IBA--
         
    FOXC2 for ontologies           About GeneDecksing


    Phenotypes:
         Selected MGI mutant phenotypes (inferred from 5 alleles(MGI details for Foxc2) (see all 20):
     adipose tissue  cardiovascular system  craniofacial  digestive/alimentary  embryogenesis 
     growth/size/body  hearing/vestibular/ear  homeostasis/metabolism  immune system  liver/biliary system 
     mortality/aging  muscle  nervous system  no phenotypic analysis  normal 

    FOXC2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for FOXC2: Foxc2tm1Miu Foxc2tm1.2Tsku Foxc2tm1Blh

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for FOXC2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for FOXC2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for FOXC2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for FOXC2

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat FOXC2 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate FOXC2:
    hsa-miR-1184 hsa-miR-593
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for FOXC2
    Predesigned siRNA for gene silencing in human, mouse, rat FOXC2

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for FOXC2

    Clone
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    OriGene clones in human, mouse for FOXC2 (see all 6)
    OriGene ORF clones in mouse, rat for FOXC2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: FOXC2 (NM_005251)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FOXC2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FOXC2

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for FOXC2
    Browse ESI BIO Cell Lines and PureStem Progenitors for FOXC2 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FOXC2


    (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 UniProtKB/Swiss-Prot
    FOXC2_HUMAN, Q99958: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus4
    cytoskeleton1
    extracellular1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA11562355
    GO:0005667transcription factor complex IBA--

    FOXC2 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).
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    SuperPaths for FOXC2 About    
    See pathways by source

    SuperPathContained pathways About
    1Heart Development
    Heart Development
    2Adipogenesis
    Adipogenesis


    2 BioSystems Pathways for FOXC2
        Heart Development
    Adipogenesis


        Pathway & Disease-focused RT2 Profiler PCR Arrays including FOXC2: 
              Cancer PathwayFinder in human mouse rat
              Epithelial to Mesenchymal Transition (EMT) in human mouse rat
              Diabetes in human mouse rat
              Adipogenesis in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for FOXC2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    Selected Interacting proteins for FOXC2 (Q999583 ENSP000003263714) via UniProtKB, MINT, STRING, and/or I2D (see all 13)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MYCP011063, ENSP000003672074I2D: score=1 STRING: ENSP00000367207
    KDM5BQ9UGL13, ENSP000003562344I2D: score=1 STRING: ENSP00000356234
    SUMO2ENSP000004059654STRING: ENSP00000405965
    CDC5LENSP000003605324STRING: ENSP00000360532
    DDX46ENSP000003462364STRING: ENSP00000346236
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 48):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter ISS--
    GO:0001501skeletal system development ----
    GO:0001503ossification IBA--
    GO:0001568blood vessel development ----
    GO:0001569patterning of blood vessels IBA--

    FOXC2 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)
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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 FOXC2

    2 Novoseek inferred chemical compound relationships for FOXC2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glucose 4.06 2 15298355 (1), 12716768 (1)
    lipid 0 1 16786163 (1)



    FOXC2 for compounds           About GeneDecksing



    (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 FOXC2 gene: 
    NM_005251.2  

    Unigene Cluster for FOXC2:

    Forkhead box C2 (MFH-1, mesenchyme forkhead 1)
    Hs.436448  [show with all ESTs]
    Unigene Representative Sequence: NM_005251
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000320354(uc002fjq.3)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat FOXC2 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate FOXC2:
    hsa-miR-1184 hsa-miR-593
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for FOXC2
    Predesigned siRNA for gene silencing in human, mouse, rat FOXC2
    Clone
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    OriGene clones in human, mouse for FOXC2 (see all 6)
    OriGene ORF clones in mouse, rat for FOXC2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: FOXC2 (NM_005251)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FOXC2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FOXC2
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for FOXC2
    OriGene qSTAR qPCR primer pairs in human, mouse for FOXC2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat FOXC2
      QuantiTect SYBR Green Assays in human, mouse, rat FOXC2
      QuantiFast Probe-based Assays in human, mouse, rat FOXC2

    Additional mRNA sequence: 

    BC113437.1 BC113439.1 

    4 DOTS entries:

    DT.437963  DT.40299149  DT.100749672  DT.95326906 

    7 AceView cDNA sequences:

    AU119542 BM728520 AU118037 AA373083 NM_005251 CD172158 AA373084 

    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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    FOXC2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGCGTCCCGC
    FOXC2 Expression
    About this image


    FOXC2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 20) fully expand
     
     Adipose (Muscoskeletal System)    fully expand to see all 9 entries
             Sacral Brown Adipocyte Cells Sacral Brown Adipose Depot
     
     Somite (Muscoskeletal System)    fully expand to see all 9 entries
             Sacral Somite Cells Sacral Somite
     
     Kidney (Urinary System)    fully expand to see all 8 entries
             Metanephric Mesenchyme Cells Metanephric Mesenchyme
             S-shaped Body
     
     Epithelial Cells
             Podocytes Podocyte Layer
     
     Cartilage (Muscoskeletal System)    fully expand to see all 5 entries
             Cervical Sclerotome Cells Cervical Mesenchymal Sclerotome
    FOXC2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FOXC2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.436448
        Pathway & Disease-focused RT2 Profiler PCR Arrays including FOXC2: 
              Cancer PathwayFinder in human mouse rat
              Epithelial to Mesenchymal Transition (EMT) in human mouse rat
              Diabetes in human mouse rat
              Adipogenesis in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for FOXC2
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    QuantiFast Probe-based Assays in human, mouse, rat FOXC2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FOXC2

    (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 animals.

    Orthologs for FOXC2 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Foxc21 , 5 forkhead box C21, 5 86.84(n)1
    88.26(a)1
      8 (70.33 cM)5
    142341  NM_013519.21  NP_038547.21 
     1211161715 
    chicken
    (Gallus gallus)
    Aves FOXC21 forkhead box C2 (MFH-1, mesenchyme forkhead 1) 77.52(n)
    76.83(a)
      396039  NM_205138.1  NP_990469.1 
    lizard
    (Anolis carolinensis)
    Reptilia FOXC26
    forkhead box C2 (MFH-1, mesenchyme forkhead 1)
    58(a)
    1 ↔ 1
    AAWZ02037033(11383-12843)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.5082 Xenopus laevis mRNA for XFD-4' protein (fd-4' gene) 79.89(n)    AJ249225.1 
    zebrafish
    (Danio rerio)
    Actinopterygii foxl26
    forkhead box L2
    32(a)
    many ↔ many
    15(6982388-6985848) ENSDARG00000042180
    fruit fly
    (Drosophila melanogaster)
    Insecta fd64A3 embryonic morphogenesis transcription
    factor
    65(a)
    (best of 3)
      64A4   --


    ENSEMBL Gene Tree for FOXC2 (if available)
    TreeFam Gene Tree for FOXC2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for FOXC2 gene
    FOXA22  FOXD4L12  FOXI22  FOXB12  FOXE32  FOXC12  FOXD4L22  FOXD4L32  
    FOXA32  FOXD4L52  FOXD12  FOXD32  FOXD4L42  FOXA12  FOXE12  FOXL12  
    FOXB22  FOXI12  FOXD4L62  FOXS12  FOXD22  FOXL22  FOXD42  
    11 SIMAP similar genes for FOXC2 using alignment to 7 protein entries:     FOXC2_HUMAN (see all proteins):
    FOXJ3    FOXN3    FOXN4    FOXC1    FOXK2    FOXL2
    FOXP2    FOXL1    FOXD4L1    FOXS1    FOXA3

    FOXC2 for paralogs           About GeneDecksing



    (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 FOXC2 (see all 124)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0184184
    Lymphedema-distichiasis (LYD)4--see VAR_0184182 S L mis40--------
    rs1048945161,2
    Cpathogenic187605310(+) ATCTAC/GCAGTT 2 Y * stg10--------
    rs788697791,2
    C,F--86599099(+) CAAATAAAC/-  
            
    AAACT
    1 -- us2k13Minor allele frequency- -:0.09NS 110
    rs740337241,2
    C,F--87602970(+) CCGATG/AAACAG 1 -- us2k12Minor allele frequency- A:0.03WA 120
    rs1818324761,2
    --87603119(+) GGGAAA/GAGGGG 1 -- us2k10--------
    rs1450320561,2
    --87603253(+) AATAAC/TATCAT 1 -- us2k10--------
    rs1176644381,2
    F--87603312(+) CCACGG/CAGCGC 1 -- us2k11Minor allele frequency- C:0.02NA 120
    rs774790101,2
    C,F--87603342(+) CCACCC/TAACAA 1 -- us2k13Minor allele frequency- T:0.00NS 110
    rs1476056561,2
    C--87603350(+) AAAAC-/AAAAAA 1 -- us2k10--------
    rs48431621,2
    C,F,A--87603476(+) GGGAAA/GCGTCC 1 -- us2k18Minor allele frequency- G:0.12NS WA CSA NA EA 474

    HapMap Linkage Disequilibrium report for FOXC2 (86600857 - 86602539 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for FOXC2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv525024CNV Loss19592680
    nsv907138CNV Loss21882294
    nsv907132CNV Loss21882294
    nsv907137CNV Loss21882294
    dgv2947n71CNV Loss21882294
    dgv498n67CNV Gain20364138
    esv4262CNV Complex18987735

    Human Gene Mutation Database (HGMD): FOXC2
    Site Specific Mutation Identification with PCR Assays
    1 Copy Number PCR Panel containing FOXC2:
    Birth Defects
    SeqTarget long-range PCR primers for resequencing FOXC2
    DNA2.0 Custom Variant and Variant Library Synthesis for FOXC2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 602402   
    OMIM disorders: 153400  
    UniProtKB/Swiss-Prot: FOXC2_HUMAN, Q99958
  • Lymphedema, hereditary, 2 (LMPH2) [MIM:153200]: A chronic disabling condition which results in swelling
    of the extremities due to altered lymphatic flow. Patients with lymphedema suffer from recurrent local
    infections, and physical impairment. Note=The disease is caused by mutations affecting the gene represented in
    this entry
  • Lymphedema-yellow nails (LYYN) [MIM:153300]: A disorder characterized by yellow, dystrophic, thick and
    slowly growing nails, associated with lymphedema and respiratory involvement. Lymphedema occurs more often in the
    lower limbs. It can appear at birth or later in life. Onset generally follows the onset of ungual abnormalities.
    Note=The disease is caused by mutations affecting the gene represented in this entry
  • Lymphedema-distichiasis (LYD) [MIM:153400]: A disorder characterized by primary limb lymphedema usually
    starting at puberty (but in some cases later or at birth) and associated with distichiasis (double rows of
    eyelashes, with extra eyelashes growing from the Meibomian gland orifices). Drooping of the upper eyelid (ptosis)
    is a variable feature of the lymphedema-distichiasis syndrome, occurring in about 30% of patients. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for FOXC2 (see all 39):    
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    arachnoiditis    varicose veins    arachnoid cysts    lymphedema-distichiasis syndrome with renal disease and diabetes mellitus
    lymphedema - cleft palate    lymphedema-distichiasis syndrome    alveolar capillary dysplasia    yellow nail syndrome
    intestinal lymphangiectasia    exotropia    hereditary lymphedema    klippel-trenaunay syndrome
    hypoplastic left heart syndrome    lymphedema    gestational diabetes    hydrops fetalis
    cleft palate    hypertriglyceridemia    hypotrichosis    insulin resistance

    3 diseases from the University of Copenhagen DISEASES database for FOXC2:
    Lymphedema     Meige syndrome     Klippel-Trenaunay syndrome

    FOXC2 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for FOXC2 gene (see all 17)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lymphedema-distichiasis syndrome 98.7 16 20218083 (2), 11371511 (2), 12719382 (1), 17366583 (1) (see all 13)
    distichiasis 97.2 15 14566319 (2), 16081467 (2), 17372167 (2), 18197197 (2) (see all 10)
    lymphedema primary 92.4 5 19760751 (2), 18986489 (1), 18564920 (1), 17372167 (1)
    congenital lymphedema 90.4 4 16081467 (2), 19093784 (1), 18519967 (1)
    lymphedema 87.6 22 11371511 (3), 17372167 (3), 18197197 (3), 12485195 (2) (see all 12)
    klippel-trenaunay syndrome 56.1 1 16379592 (1)
    cleft palate 45.2 1 12485195 (1)
    vascular anomaly 40.8 1 15905966 (1)
    congenital malformation 36 1 12543715 (1)
    hypertriglyceridemia 33.1 3 11551504 (2), 12716768 (1)

    GeneTests: FOXC2
    GeneReviews: FOXC2
    Genetic Association Database (GAD): FOXC2
    Human Genome Epidemiology (HuGE) Navigator: FOXC2 (23 documents)

    Export disorders for FOXC2 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)
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    PubMed articles for FOXC2 gene, integrated from 10 sources (see all 124):
    (articles sorted by number of sources associating them with FOXC2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Isolation of the mouse (MFH-1) and human (FKHL 14) mesenchyme fork head-1 genes reveals conservation of their gene and protein structures. (PubMed id 9169153)1, 2, 3, 9 Miura N.... Sugiyama T. (Genomics 1997)
    2. FOXC2 mRNA Expression and a 5' untranslated region polymorphism of the gene are associated with insulin resistance. (PubMed id 12453913)1, 4, 9 RidderstrAYle M....Groop L. (Diabetes 2002)
    3. Association of polymorphisms in forkhead box C2 and perilipin genes with bone mineral density in community-dwelling Japanese individuals. (PubMed id 16786163)1, 4, 9 Yamada Y....Shimokata H. (Int. J. Mol. Med. 2006)
    4. Truncating mutations in FOXC2 cause multiple lymphedema syndromes. (PubMed id 11371511)1, 2, 9 Finegold D.N.... Ferrell R.E. (Hum. Mol. Genet. 2001)
    5. Clustered arrangement of winged helix genes fkh-6 and MFH-1: possible implications for mesoderm development. (PubMed id 8674414)1, 3, 9 Kaestner K.H....SchA1tz G. (Development 1996)
    6. Role of the FOXC2 -512C&gt;T polymorphism in type 2 diabetes: possible association with the dysmetabolic syndrome. (PubMed id 15597109)1, 4, 9 Carlsson E....RidderstrAYle M. (Int J Obes (Lond) 2005)
    7. Genetic variation in the human winged helix/forkhead transcription factor gene FOXC2 in Pima Indians. (PubMed id 12716768)1, 4, 9 Kovacs P....Baier L.J. (Diabetes 2003)
    8. The FOXC2 C-512T polymorphism is associated with obesity and dyslipidemia. (PubMed id 15601967)1, 4, 9 Carlsson E....RidderstrAYle M. (Obes. Res. 2004)
    9. Analysis of lymphoedema-distichiasis families for FOXC2 mutations reveals small insertions and deletions throughout the gene. (PubMed id 11499682)1, 2, 9 Bell R....Jeffery S. (Hum. Genet. 2001)
    10. High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PubMed id 19453261)1, 4, 9 Yerges L.M....Zmuda J.M. (J. Bone Miner. Res. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 2303 HGNC: 3801 AceView: FOXC2 Ensembl:ENSG00000176692 euGenes: HUgn2303
    ECgene: FOXC2 H-InvDB: FOXC2

    (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 FOXC2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=FOXC2[genesymbol]
    NIEHS-SNPshttp://egp.gs.washington.edu/data/foxc2/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for FOXC2 gene:
    Search GeneIP for patents involving FOXC2

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



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