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FOXC1 Gene

protein-coding   GIFtS: 62
GCID: GC06P001610

Forkhead Box C1


(Previous symbols: FKHL7, IRID1)
  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 C11 2     IGDA2
FKHL71 2 3 5     IHG12
IRID11 2 5     Forkhead Box C1 Protein2
FREAC32 3 5     Forkhead Box Protein C12
Forkhead-Related Protein FKHL72 3     Forkhead, Drosophila, Homolog-Like 72
Forkhead-Related Transcription Factor 32 3     Forkhead-Related Activator 32
FREAC-32 3     Forkhead/Winged Helix-Like Transcription Factor 72
RIEG32 5     Myeloid Factor-Delta2
ARA2     

External Ids:    HGNC: 38001   Entrez Gene: 22962   Ensembl: ENSG000000545987   OMIM: 6010905   UniProtKB: Q129483   

Export aliases for FOXC1 gene to outside databases

Previous GC identifers: GC06P001595 GC06P001555 GC06P001480


(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 FOXC1 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 has been shown to
play a role in the regulation of embryonic and ocular development. Mutations in this gene cause various glaucoma
phenotypes including primary congenital glaucoma, autosomal dominant iridogoniodysgenesis anomaly, and
Axenfeld-Rieger anomaly. (provided by RefSeq, Jul 2008)

GeneCards Summary for FOXC1 Gene:
FOXC1 (forkhead box C1) is a protein-coding gene. Diseases associated with FOXC1 include axenfeld-rieger syndrome type 3, and iris hypoplasia and glaucoma. 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: FOXC1_HUMAN, Q12948
Function: Binding of FREAC-3 and FREAC-4 to their cognate sites results in bending of the DNA at an angle of 80-90
degrees. Regulates FOXO1 through binding to a conserved element, 5'-GTAAACAAA-3' in its promoter region,
implicating FOXC1 as an important regulator of cell viability and resistance to oxidative stress in the eye

Gene Wiki entry for FOXC1 (Forkhead box C1) 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_000006.12  NC_018917.2  NT_007592.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the FOXC1 gene promoter:
         SRF   STAT1   SRF (504 AA)   FOXO4   FOXO1a   Nkx2-5   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFOXC1 promoter sequence
   Search Chromatin IP Primers for FOXC1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FOXC1


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

Entrez Gene cytogenetic band: 6p25   Ensembl cytogenetic band:  6p25.3   HGNC cytogenetic band: 6p25

FOXC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FOXC1 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P001610:  view genomic region     (about GC identifiers)

Start:
1,610,681 bp from pter      End:
1,614,132 bp from pter
Size:
3,452 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.)
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UniProtKB/Swiss-Prot: FOXC1_HUMAN, Q12948 (See protein sequence)
Recommended Name: Forkhead box protein C1  
Size: 553 amino acids; 56789 Da
Subunit: Monomer. Interacts with C1QBP
Secondary accessions: Q86UP7 Q9BYM1 Q9NUE5 Q9UDD0 Q9UP06

Explore the universe of human proteins at neXtProt for FOXC1: NX_Q12948

Explore proteomics data for FOXC1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See FOXC1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001444.2  
    ENSEMBL proteins: 
     ENSP00000370256  

    FOXC1 Human Recombinant Protein Products:

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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for FOXC1

    FOXC1 Antibody Products:

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    FOXC1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for FOXC1
    Cloud-Clone Corp. CLIAs for FOXC1


    (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 Q12948

    ProtoNet protein and cluster: Q12948

    UniProtKB/Swiss-Prot: FOXC1_HUMAN, Q12948
    Similarity: Contains 1 fork-head DNA-binding domain


    FOXC1 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: FOXC1_HUMAN, Q12948
    Function: Binding of FREAC-3 and FREAC-4 to their cognate sites results in bending of the DNA at an angle of 80-90
    degrees. Regulates FOXO1 through binding to a conserved element, 5'-GTAAACAAA-3' in its promoter region,
    implicating FOXC1 as an important regulator of cell viability and resistance to oxidative stress in the eye

         Genatlas biochemistry entry for FOXC1:
    transcription factor-like 7,ubiquitously expressed,with a Drosophila homeo forkhead DNA binding domain
    homolog,homolog to the murine MF1,disrupted in congenital hydrocephalus

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IDA11179011
    GO:0003690double-stranded DNA binding IBA--
    GO:0003700sequence-specific DNA binding transcription factor activity IDA11179011
    GO:0003705RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity IBA--
    GO:0005515protein binding IPI15684392
         
    FOXC1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for FOXC1:
     Decreased viability with carbo  Decreased viability with pacli 

         Selected MGI mutant phenotypes (inferred from 5 alleles(MGI details for Foxc1) (see all 22):
     cardiovascular system  cellular  craniofacial  digestive/alimentary  embryogenesis 
     endocrine/exocrine gland  growth/size/body  homeostasis/metabolism  integument  limbs/digits/tail 
     liver/biliary system  mortality/aging  muscle  nervous system  normal 

    FOXC1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Foxc1tm1.1Tsku for FOXC1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for FOXC1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for FOXC1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for FOXC1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for FOXC1

    miRNA
    Products:
        
    miRTarBase miRNAs that target FOXC1:
    hsa-mir-204-5p (MIRT006344), hsa-mir-940 (MIRT036606), hsa-mir-1236-3p (MIRT036256), hsa-mir-378a-3p (MIRT043933), hsa-mir-193b-3p (MIRT041194), hsa-mir-324-5p (MIRT043069), hsa-mir-877-5p (MIRT037280)

    Block miRNA regulation of human, mouse, rat FOXC1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate FOXC1 (see all 21):
    hsa-miR-623 hsa-miR-495 hsa-miR-200a hsa-miR-4275 hsa-miR-548l hsa-miR-374c hsa-miR-141 hsa-miR-204
    SwitchGear 3'UTR luciferase reporter plasmidFOXC1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for FOXC1
    Predesigned siRNA for gene silencing in human, mouse, rat FOXC1

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for FOXC1

    Clone
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    OriGene ORF clones in mouse, rat for FOXC1
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    GenScript: all cDNA clones in your preferred vector: FOXC1 (NM_001453)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FOXC1
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat FOXC1

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for FOXC1 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FOXC1


    (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
    FOXC1_HUMAN, Q12948: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005667transcription factor complex IBA--
    GO:0005720nuclear heterochromatin IDA15684392
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--

    FOXC1 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 FOXC1 About    
    See pathways by source

    SuperPathContained pathways About
    1Wnt / Hedgehog / Notch
    Wnt / Hedgehog / Notch
    2Transcriptional Regulatory Network in Embryonic Stem Cell
    Transcriptional Regulatory Network in Embryonic Stem Cell
    3TGF-beta/Smad Signaling
    TGF-beta/Smad Signaling
    4Heart Development
    Heart Development

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for FOXC1
        Transcriptional Regulatory Network in Embryonic Stem Cell

    2 Cell Signaling Technology (CST) Pathways for FOXC1
        Wnt / Hedgehog / Notch
    TGF-beta/Smad Signaling

    1 BioSystems Pathway for FOXC1
        Heart Development



    FOXC1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including FOXC1: 
              Notch Signaling Targets in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for FOXC1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

    Selected Interacting proteins for FOXC1 (Q129481, 3 ENSP000003702564) via UniProtKB, MINT, STRING, and/or I2D (see all 18)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PITX2Q996973, ENSP000003041694I2D: score=1 STRING: ENSP00000304169
    HMGB1P094293, ENSP000003430404I2D: score=1 STRING: ENSP00000343040
    C1QBPQ070211EBI-1175253,EBI-347528
    FLNAP213331EBI-1175253,EBI-350432
    PBX1P404241EBI-1175253,EBI-301611
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 43):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IBA--
    GO:0001501skeletal system development IEA--
    GO:0001503ossification IEA--
    GO:0001541ovarian follicle development IEA--
    GO:0001568blood vessel development ----

    FOXC1 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 FOXC1

    1 Novoseek inferred chemical compound relationship for FOXC1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    threonine 0 1 16142437 (1)



    FOXC1 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,
    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 FOXC1 gene: 
    NM_001453.2  

    Unigene Cluster for FOXC1:

    Forkhead box C1
    Hs.348883  [show with all ESTs]
    Unigene Representative Sequence: NM_001453
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000380874(uc003mtp.3)
    miRNA
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    Block miRNA regulation of human, mouse, rat FOXC1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate FOXC1 (see all 21):
    hsa-miR-623 hsa-miR-495 hsa-miR-200a hsa-miR-4275 hsa-miR-548l hsa-miR-374c hsa-miR-141 hsa-miR-204
    SwitchGear 3'UTR luciferase reporter plasmidFOXC1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat FOXC1
    Clone
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      QuantiFast Probe-based Assays in human, mouse, rat FOXC1

    Additional mRNA sequence: 

    AK021858.1 BC134421.1 L12143.1 U13221.1 

    1 DOTS entry:

    DT.216270 

    Selected AceView cDNA sequences (see all 118):

    AA977661 AW304880 AI804844 BF222589 AW195359 AW084229 AA885880 AI342983 
    AA232201 BU633133 BM714400 AA334694 BQ446283 BQ002117 AI701617 BQ446091 
    CD723788 AA232742 BI493911 AA688135 BQ189565 U13221 W94714 AA865139 

    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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    FOXC1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GACTTGTTTT
    FOXC1 Expression
    About this image


    FOXC1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 16) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Meningeal Cells Anterior Meninges
     
     Mesoderm (Gastrulation Derivatives)    fully expand to see all 2 entries
             Mesoderm Cells Mesoderm
             PureStem 7SMOO32, NCr-fac & Meso Progenitor
     
     Neural Crest (Gastrulation Derivatives)    fully expand to see all 5 entries
             Cardiac Neural Crest Cells Cardiac Neural Crest
             PureStem 4D20.8, NCr-fac Progenitor
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             Metanephric Mesenchyme Cells Metanephric Mesenchyme
     
     Heart (Cardiovascular System)    fully expand to see all 3 entries
             Endocardial Cells Endocardium
    FOXC1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FOXC1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.348883

    UniProtKB/Swiss-Prot: FOXC1_HUMAN, Q12948
    Tissue specificity: Expressed in all tissues and cell lines examined

        Pathway & Disease-focused RT2 Profiler PCR Array including FOXC1: 
              Notch Signaling Targets in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FOXC1

    (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 FOXC1 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Foxc11 , 5 forkhead box C11, 5 90.03(n)1
    92.48(a)1
      13 (13.52 cM)5
    173001  NM_008592.21  NP_032618.21 
     318066915 
    African clawed frog
    (Xenopus laevis)
    Amphibia xfd-112 XFD-11 protein 80.48(n)    AF116844.1 
    zebrafish
    (Danio rerio)
    Actinopterygii foxc1a2 forkhead box C1a 80.94(n)   79374  BC053129.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta croc3 specification of segmental identity,
    head DNA more
    83(a)
    (best of 3)
      78D3   --


    ENSEMBL Gene Tree for FOXC1 (if available)
    TreeFam Gene Tree for FOXC1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for FOXC1 gene
    FOXA22  FOXD4L12  FOXC22  FOXI22  FOXB12  FOXE32  FOXD4L22  FOXD4L32  
    FOXA32  FOXD4L52  FOXD12  FOXD32  FOXD4L42  FOXA12  FOXE12  FOXL12  
    FOXB22  FOXI12  FOXD4L62  FOXS12  FOXD22  FOXL22  FOXD42  
    Selected SIMAP similar genes for FOXC1 using alignment to 3 protein entries:     FOXC1_HUMAN (see all proteins) (see all similar genes):
    FOXJ3    FOXC2    FOXI3    FOXL1    FOXN4    FOXN3
    FOXN2    FOXB1    FOXE1    FOXS1    FOXA2    FOXK2
    FOXD1    FOXD4    FOXA1    FOXE3    FOXI2    FOXI1

    FOXC1 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 FOXC1 (see all 146)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0078154
    Peters anomaly (PAN)4--see VAR_0078152 F S mis40--------
    VAR_0587304
    Axenfeld-Rieger syndrome 3 (RIEG3)4--see VAR_0587302 L F mis40--------
    rs1048939521,2
    Cpathogenic11610747(+) GCGAGC/TAGAGC 2 Q * stg10--------
    rs1048939531,2
    Cpathogenic11610925(+) CTATAC/GCTACA 2 T S mis10--------
    rs1048939541,2
    Cpathogenic11610941(+) CTCATC/GACCAT 2 I M mis10--------
    rs1048939511,2
    Cpathogenic11611015(+) CCGCTC/TCCCCT 2 S F mis10--------
    rs1048939581,2
    Cpathogenic11611058(+) AGCATC/GCGCCA 2 I M mis10--------
    rs1048939571,2
    Cpathogenic11611072(+) CCTCTC/TGCTCA 2 S L mis10--------
    rs357927021,2
    F--1608688(+) TTTAAT/GAGATG 1 -- us2k15Minor allele frequency- G:0.01MN 400
    rs49595831,2
    C,F--1608845(+) ATCGCC/AGTGCC 1 -- us2k111Minor allele frequency- A:0.05MN NS WA NA EA 854

    HapMap Linkage Disequilibrium report for FOXC1 (1610681 - 1614132 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for FOXC1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv883382CNV Loss21882294
    dgv6426n71CNV Loss21882294
    dgv992n67CNV Gain20364138
    nsv883376CNV Gain21882294
    nsv823399CNV Gain20364138
    nsv823400CNV Gain20364138
    nsv823397CNV Gain20364138

    Human Gene Mutation Database (HGMD): FOXC1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing FOXC1
    DNA2.0 Custom Variant and Variant Library Synthesis for FOXC1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601090   
    OMIM disorders: 601631  602482  
    UniProtKB/Swiss-Prot: FOXC1_HUMAN, Q12948
  • Axenfeld-Rieger syndrome 3 (RIEG3) [MIM:602482]: An autosomal dominant disorder of morphogenesis that
    results in abnormal development of the anterior segment of the eye, and results in blindness from glaucoma in
    approximately 50% of affected individuals. Features include posterior corneal embryotoxon, prominent Schwalbe
    line and iris adhesion to the Schwalbe line, hypertelorism, hypodontia, sensorineural deafness, redundant
    periumbilical skin, and cardiovascular defects such as patent ductus arteriosus and atrial septal defect. When
    associated with tooth anomalies, the disorder is known as Rieger syndrome. Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • Iridogoniodysgenesis anomaly (IGDA) [MIM:601631]: Autosomal dominant phenotype characterized by iris
    hypoplasia, goniodysgenesis, and juvenile glaucoma. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Peters anomaly (PAN) [MIM:604229]: Consists of a central corneal leukoma, absence of the posterior
    corneal stroma and Descemet membrane, and a variable degree of iris and lenticular attachments to the central
    aspect of the posterior cornea. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • Selected diseases for FOXC1 (see all 54):    
    About MalaCards
    axenfeld-rieger syndrome type 3    iris hypoplasia and glaucoma    iridogoniodysgenesis, type 1    glaucoma, congenital
    ring chromosome 6    axenfeld-rieger syndrome    intestinal atresia    iris hypoplasia
    axenfeld-rieger syndrome type 1    iridogoniodysgenesis, dominant type    primary congenital glaucoma    juvenile glaucoma
    aniridia    persistent hyperplastic primary vitreous    cataract-glaucoma    glaucoma
    congenital anomalies of kidney and urinary tract    hereditary lymphedema    peters plus syndrome    developmental disabilities

    4 diseases from the University of Copenhagen DISEASES database for FOXC1:
    Axenfeld-Rieger syndrome     Glaucoma     Aniridia     Hydrocephalus

    FOXC1 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for FOXC1 gene (see all 19)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    irid1 94.4 5 9792859 (2), 10507730 (1)
    rieger syndrome 87.5 5 11821690 (3), 12614756 (1), 14630904 (1)
    anomaly peters 83.9 4 12614756 (2), 18498376 (2)
    glaucoma, congenital 82 5 11320352 (2), 18484311 (2), 19279310 (1)
    glaucoma 78.4 43 17197537 (5), 16638984 (3), 19458328 (3), 17653043 (2) (see all 21)
    congenital malformation 71.3 13 16449236 (2), 12454026 (2), 17653043 (1), 18708620 (1) (see all 10)
    aniridia 66.5 3 18484311 (2), 19279310 (1)
    hypoplasia 66 3 16470615 (1), 19668217 (1), 11007653 (1)
    eye diseases 43.1 2 18637741 (1), 16470615 (1)
    hydrocephalus 37.7 2 17486624 (1), 9635428 (1)

    Genetic Association Database (GAD): FOXC1
    Human Genome Epidemiology (HuGE) Navigator: FOXC1 (14 documents)

    Export disorders for FOXC1 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 FOXC1 gene, integrated from 10 sources (see all 149):
    (articles sorted by number of sources associating them with FOXC1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25. (PubMed id 9620769)1, 2, 3 Nishimura D.Y....Sheffield V.C. (Nat. Genet. 1998)
    2. Cloning and characterization of seven human forkhead proteins: binding site specificity and DNA bending. (PubMed id 7957066)1, 2, 3 Pierrou S.... Carlsson P. (EMBO J. 1994)
    3. Human p32 is a novel FOXC1-interacting protein that regulates FOXC1 transcriptional activity in ocular cells. (PubMed id 18676636)1, 2, 9 Huang L.... Walter M.A. (Invest. Ophthalmol. Vis. Sci. 2008)
    4. Identification and analysis of a novel mutation in the FOXC1 forkhead domain. (PubMed id 14578375)1, 2, 9 Saleem R.A.... Walter M.A. (Invest. Ophthalmol. Vis. Sci. 2003)
    5. FOXC1 is required for cell viability and resistance to oxidative stress in the eye through the transcriptional regulation of FOXO1A. (PubMed id 17993506)1, 2, 9 Berry F.B.... Walter M.A. (Hum. Mol. Genet. 2008)
    6. The wing 2 region of the FOXC1 forkhead domain is necessary for normal DNA-binding and transactivation functions. (PubMed id 15277473)1, 2, 9 Murphy T.C....Walter M.A. (Invest. Ophthalmol. Vis. Sci. 2004)
    7. A family with Axenfeld-Rieger syndrome and Peters Anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene. (PubMed id 12614756)1, 2, 9 Honkanen R.A.... Alward W.L.M. (Am. J. Ophthalmol. 2003)
    8. Mutation spectrum of FOXC1 and clinical genetic heterogeneity of Axenfeld-Rieger anomaly in India. (PubMed id 12592227)1, 2, 9 Komatireddy S.... Balasubramanian D. (Mol. Vis. 2003)
    9. Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly. (PubMed id 9792859)1, 2, 9 Mears A.J.... Walter M.A. (Am. J. Hum. Genet. 1998)
    10. Molecular analysis of FOXC1 in subjects presenting with severe developmental eye anomalies. (PubMed id 19626132)1, 4, 9 Kaur K....Ragoussis J. (Mol. Vis. 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: 2296 HGNC: 3800 AceView: FOXC1 Ensembl:ENSG00000054598 euGenes: HUgn2296
    ECgene: FOXC1 H-InvDB: FOXC1

    (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 FOXC1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for FOXC1 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=FOXC1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for FOXC1 gene:
    Search GeneIP for patents involving FOXC1

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



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