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

FOXC1 Gene

protein-coding   GIFtS: 57
GCID: GC06P001610

forkhead box C1


(Previous symbols: FKHL7, IRID1)
 Explore 43 diseases affiliated with
FOXC1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for FOXC1    

Aliases
for FOXC1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Forkhead Box C11 2     Forkhead-Related Transcription Factor 32 3
FKHL71 2 3 5     FREAC-32 3
FREAC31 2 3 5     RIEG32 5
IRID11 2 5     Forkhead Box Protein C12
ARA1 2     Forkhead, Drosophila, Homolog-Like 72
IGDA1 2     Forkhead-Related Activator 32
IHG11 2     Forkhead/Winged Helix-Like Transcription Factor 72
Forkhead-Related Protein FKHL72 3     Myeloid Factor-Delta2

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


Summaries
for FOXC1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for FOXC1:
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)

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)


Genomic Views
for FOXC1 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.1  NT_007592.15  
Regulatory elements:
   SABiosciences 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 plasmid: FOXC1 promoter sequence
   Search SABiosciences Chromatin IP Primers for FOXC1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for FOXC1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: FOXC1_HUMAN, Q12948 (See protein sequence)
Recommended Name: Forkhead box protein C1  
Size: 553 amino acids; 56789 Da
Subunit: Monomer. Interacts with C1QBP
Subcellular location: Nucleus
Secondary accessions: Q86UP7 Q9BYM1 Q9NUE5 Q9UDD0 Q9UP06

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q12948

    • FOXC1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001444.2  
    ENSEMBL proteins: 
     ENSP00000370256  

    Human Recombinant Protein Products: 
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    Novus Biologicals FOXC1 Protein
    Novus Biologicals FOXC1 Lysate
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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for FOXC1

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    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



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    ThermoFisher Antibody for FOXC1

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    Uscn ELISAs and CLIAs for FOXC1

    Protein Domains /
    Families
    for FOXC1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    FOXC1 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR011991 WHTH_trsnscrt_rep_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


    Function
    for FOXC1 gene

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

         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

         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

    10/323 SABiosciences Target genes for FOXC1 (see all 323):
    AADACL2 ABCC2 ACPL2 ACYP2 ADAMTS19 ADH1C ADSS ALX4 AMPD1 AMY2B

    miRNA
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    8/21 QIAGEN miScript miRNA 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 plasmid: FOXC1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for FOXC1 (see all 4)
    OriGene shRNA RFP: FOXC1
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    Gene Editing
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    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FOXC1 (see all 2)
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    Cell Line
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    In Situ Assay
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    Gene Ontology (GO): 5/10 molecular function terms (GO ID links to tree view) (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 IPI--


    FOXC1 for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-out Foxc1tm1.1Tsku for FOXC1
         15/22 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  homeostasis/metabolism  integument  limbs/digits/tail 
     liver/biliary system  mortality/aging  muscle  nervous system  normal 

    FOXC1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for FOXC1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Wnt / Hedgehog / Notch
    		Wnt / Hedgehog / Notch1.00
    2TGF-beta/Smad Signaling
    		TGF-beta/Smad Signaling1.00
    3Heart Development
    		Heart Development1.00
    4Transcriptional Regulatory Network in Embryonic Stem Cell
    		Transcriptional Regulatory Network in Embryonic Stem Cell1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 Downloadable PowerPoint Slide of QIAGEN 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

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for FOXC1

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    5/9 Interacting proteins for FOXC1 (Q129481, 3 ENSP000003702564) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HMGB1P094293, ENSP000003430404I2D: score=1 STRING: ENSP00000343040
    PITX2Q996973I2D: score=1 
    C1QBPQ070211EBI-1175253,EBI-347528
    FLNAP213331EBI-1175253,EBI-1103234
    PBX1P404241EBI-1175253,EBI-301611
    About this table

    Gene Ontology (GO): 5/42 biological process terms (GO ID links to tree view) (see all 42):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001501skeletal system development IEA--
    GO:0001503ossification IBA--
    GO:0001541ovarian follicle development IBA--
    GO:0001568blood vessel development ----
    GO:0001570vasculogenesis IBA--


    FOXC1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for FOXC1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    FOXC1 for compounds           About GeneDecksing

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

    Browse Tocris compounds for FOXC1
    1 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about FOXC1 

    Transcripts
    for FOXC1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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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    8/21 QIAGEN miScript miRNA 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 plasmid: FOXC1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for FOXC1 (see all 4)
    OriGene shRNA RFP: FOXC1
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FOXC1
    Clone
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    Primer
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    Additional cDNA sequence: 

    AF343007.1 AK021858.1 BC134421.1 L12143.1 U13221.1 

    1 DOTS entry:

    DT.216270 

    24/118 AceView cDNA sequences (see all 118):

    AW304880 AI701617 AI216334 AA865139 AI333220 AA885880 AW084229 AI763387 
    AA334694 BQ446283 CD723161 AU119584 AA688135 AA495846 BQ002117 BQ446091 
    BM931965 BF940303 CA438044 AI804844 N40582 BM714400 CA313159 AA977661 

    GeneLoc Exon Structure


    Expression
    for FOXC1 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    FOXC1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GACTTGTTTT

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

    FOXC1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/12 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 12) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BrainAnterior MeningesMeningeal CellsMeninges
    BrainAnterior MeningesMeningeal Progenitor CellsMeninges
    KidneyMetanephric MesenchymeMetanephric Mesenchyme CellsKidney
    Head MesenchymeBranchial Arch 3,4,6Cardiac Neural Crest CellsNeural Crest
    HeartEndocardiumEndocardial CellsEndocardium
    HeartMyocardiumCardiomyocytesMyocardium
    Lateral Plate MesodermEmbryonic Blood IslandsAngioblastsEndothelium
    Lateral Plate MesodermEmbryonic Capillary PlexusAngioblastsEndothelium
    Neural CrestCardiac Neural CrestCardiac Neural Crest CellsNeural Crest
    Skeletal MuscleExtraocular MusclesMuscle Progenitor CellsSkeletal Muscle
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 8 LifeMap Cells 
    NameCategory
    PureStem™ progenitor T42 (Embryonic Progenitor Cell)
    PureStem™ mesenchymal progenitor MEL2 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ mesenchymal progenitor 7SMOO32 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ mesenchymal progenitor 4D20.8 (Embryonic Progenitor Cell)Lateral Plate Mesoderm, Neural Crest
    PureStem™ mesenchymal progenitor E15 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ progenitor E69 (Embryonic Progenitor Cell)
    Primitive gut tube-like cells (A scalable, suspensi...)
    Beating cell clusters (Spontaneous differen...)

    See FOXC1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FOXC1

    SOURCE GeneReport for Unigene cluster: Hs.348883

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

        SABiosciences Expression via Pathway-Focused PCR Array including FOXC1: 
              Notch Signaling Targets in human mouse rat

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    In Situ
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    Orthologs
    for FOXC1 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for FOXC1 gene from 4/16 species (see all 16)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves FOXC11 forkhead box C1 73.54(n)
    67.84(a)    		   395856  NM_205006.1  NP_990337.1 
    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
    for FOXC1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FOXC1 gene
    FOXF12  FOXA22  FOXD4L12  FOXF22  FOXC22  FOXB12  FOXI22  FOXE32  
    FOXD4L22  FOXQ12  FOXD4L32  FOXA32  FOXD12  FOXD32  FOXD4L52  FOXD4L42  
    FOXE12  FOXL12  FOXA12  FOXB22  FOXI12  FOXD4L62  FOXS12  FOXL22  
    FOXD22  FOXD42  
    18/19 SIMAP similar genes for FOXC1 using alignment to 3 protein entries:     FOXC1_HUMAN (see all proteins) (see all similar genes):
    FOXJ3    FOXC2    FOXI3    FOXN3    FOXN2    FOXL1
    FOXB1    FOXE1    FOXS1    FOXA2    FOXK2    FOXD1
    FOXD4    FOXA1    FOXE3    FOXI2    FOXI1    FOXL2

    FOXC1 for paralogs           About GeneDecksing



    Genomic Variants
    for FOXC1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/98 NCBI SNPs in FOXC1 are shown (see all 98)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 6 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1048939521,2
    		Cpathogenic1610747(+) GCGAGC/TAGAGC 2 Q * stg10--------
    rs1048939531,2
    		Cpathogenic1610925(+) CTATAC/GCTACA 2 T S mis10--------
    rs1048939541,2
    		Cpathogenic1610941(+) CTCATC/GACCAT 2 I M mis10--------
    rs1048939511,2
    		Cpathogenic1611015(+) CCGCTC/TCCCCT 2 S F mis10--------
    rs1048939581,2
    		Cpathogenic1611058(+) AGCATC/GCGCCA 2 I M mis10--------
    rs1048939571,2
    		Cpathogenic1611072(+) 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
    rs354212751,2
    		C,F,--1608877(+) TTCCCG/ACTCCT 1 -- us2k19Minor allele frequency- A:0.01MN NS CSA 495
    rs1454497681,2
    		--1609553(+) GTAGCC/TGAGTT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for FOXC1 (1610681 - 1614132 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for FOXC1: --
    Human Gene Mutation Database (HGMD): FOXC1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing FOXC1
    DNA2.0 Custom Variant and Variant Library Synthesis for FOXC1

    Disorders / Diseases
    for FOXC1 gene

    (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.)
    About This Section
    FOXC1 for disorders           About GeneDecksing

    OMIM gene information: 601090   
    OMIM disorders: 601631  602482  
    UniProtKB/Swiss-Prot: FOXC1_HUMAN, Q12948
  • Defects in FOXC1 are the cause of Axenfeld-Rieger syndrome type 3 (RIEG3) [MIM:602482]; also known as
    • Axenfeld-Rieger syndrome (ARS) or Axenfeld syndrome or Axenfeld anomaly. It is characterized by posterior corneal
    embryotoxon, prominent Schwalbe line and iris adhesion to the Schwalbe line. Other features may be hypertelorism (wide
    spacing of the eyes), hypoplasia of the malar bones, congenital absence of some teeth and mental retardation. When
    associated with tooth anomalies, the disorder is known as Rieger syndrome. Glaucoma is a progressive blinding
    condition that occurs in approximately half of patients with Axenfeld-Rieger malformations
  • Defects in FOXC1 are the cause of iridogoniodysgenesis anomaly (IGDA) [MIM:601631]. IGDA is an autosomal
    • dominant phenotype characterized by iris hypoplasia, goniodysgenesis, and juvenile glaucoma
  • Defects in FOXC1 are a cause of Peters anomaly (PAN) [MIM:604229]. Peters anomaly 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

    20/43 diseases for FOXC1 (see all 43):    About MalaCards
    iridogoniodysgenesis    primary congenital glaucoma    axenfeld-rieger syndrome type 3    axenfeld-rieger syndrome
    glaucoma    persistent hyperplastic primary vitreous    dandy-walker malformation    iridogoniodysgenesis, type 1
    iris hypoplasia    ring chromosome 6    ring chromosomes    iris hypoplasia and glaucoma
    developmental disabilities    peters anomaly    craniofacial anomalies    cataract-glaucoma
    aniridia    congenital heart defect    glaucoma, congenital    intestinal atresia

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

    10/19 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: FOXC1 (14 documents)

    Export disorders for FOXC1 gene to outside databases

    Publications
    for FOXC1 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for FOXC1 gene, integrated from 9 sources (see all 140):
    (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. (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. (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. (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. (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. (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. (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. (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. (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. (1998)
    10. Novel mutation in FOXC1 wing region causing Axenfeld-Rieger anomaly. (PubMed id 12454026)1, 2, 9 Panicker S.G....Hasnain S.E. (2002)

    External Searches for FOXC1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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    Genome Databases showing FOXC1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2296 HGNC: 3800 AceView: FOXC1 Ensembl:ENSG00000054598 euGenes: HUgn2296
    ECgene: FOXC1 H-InvDB: FOXC1

    Other Databases showing FOXC1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing FOXC1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for FOXC1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for FOXC1 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FOXC1

    Intellectual Property
    for FOXC1 gene

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

    GeneCards and IP:
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