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

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)
About This Section

Aliases
Forkhead Box C11 2     ARA2
FKHL71 2 3 5     IGDA2
IRID11 2 5     IHG12
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

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

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 intestinal atresia, 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 FOXF1.

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.2  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 plasmidFOXC1 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

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for FOXC1 at MOPED 

Post-translational modifications:

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

  • FOXC1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    FOXC1 Protein Expression
    REFSEQ proteins: NP_001444.2  
    ENSEMBL proteins: 
     ENSP00000370256  

    Human Recombinant Protein Products for FOXC1: 
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    Novus Biologicals FOXC1 Lysate
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. 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



    FOXC1 Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for FOXC1 

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    Cloud-Clone Corp. CLIAs for FOXC1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 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 IPI15684392
         
    FOXC1 for ontologies           About GeneDecksing


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

         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

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

       inGenious Targeting Laboratory - Custom generated mouse model solutions for FOXC1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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 

    10/316 SABiosciences Target genes for FOXC1 (see all 316):
    AADACL2 ABCC2 ACPL2 ACYP2 ADAMTS19 ADH1C ADSS ALX4 AMPD1 AMY2B

    miRNA
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    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:
        
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    Gene Editing
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FOXC1


    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for FOXC1 About                                                                                                See pathways by source

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

    Pathways by source                                                                                                                                                                 See SuperPaths
    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-350432
    PBX1P404241EBI-1175253,EBI-301611
    About this table

    Gene Ontology (GO): 5/46 biological process terms (GO ID links to tree view) (see all 46):    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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 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)

    Search CenterWatch for drugs/clinical trials and news about FOXC1

    (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,
    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, Sirion Biotech, 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):
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    SwitchGear 3'UTR luciferase reporter plasmidFOXC1 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

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

    1 DOTS entry:

    DT.216270 

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

    AW084229 BI493911 CB138684 AA688135 BF222491 BQ189565 BQ446091 AI804844 
    AA885880 N40582 AA232742 AA977661 BM931965 AI216334 CD723788 AI342983 
    BF222589 AI701617 BM714400 CD721988 AA865139 AA348051 AW195359 CA438044 

    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™, 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)      FOXC1 embryonic expression: see
    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 
     5/24 selected tissues (see all 24) fully expand
     
     Neural Crest (Gastrulation Derivatives)    fully expand to see all 5 entries
             Cardiac Neural Crest Cells Cardiac Neural Crest
             PureStem 4D20.8, NCr-fac Progenitor
     
     Heart (Cardiovascular System)    fully expand to see all 3 entries
             Cardiomyocytes Myocardium
             Beating cell clusters ( Spontaneous differentiation of cardiomyocytes and further...
     
     Cartilage (Muscoskeletal System)    fully expand to see all 3 entries
             HyStem+BMP4-induced SM30 cells
             Human Annulus Fibrosus Cells (HAFC)   
     
     Endothelium (Cardiovascular System)    fully expand to see all 3 entries
             Angioblasts Embryonic Capillary Plexus
             Peripheral blood-derived endothelial progenitor cells
     
     Lateral Plate Mesoderm (Gastrulation Derivatives)    fully expand to see all 3 entries
             Angioblasts Embryonic Capillary Plexus
             PureStem E15, Meso-prx/latp Progenitor

    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
    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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for FOXC1 gene from 5/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Foxc11 , 5 forkhead box C11, 5 91.44(n)1
    94.68(a)1
      13 (13.52 cM)5
    173001  NM_008592.21  NP_032618.21 
     318066915 
    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 according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FOXC1 gene
    FOXF12  FOXA22  FOXF22  FOXD4L12  FOXC22  FOXI22  FOXB12  FOXE32  
    FOXD4L22  FOXD4L32  FOXA32  FOXD4L52  FOXD12  FOXD32  FOXD4L42  FOXL12  
    FOXA12  FOXE12  FOXB22  FOXI12  FOXD4L62  FOXS12  FOXD22  FOXL22  
    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    FOXL1    FOXN3    FOXN2
    FOXB1    FOXE1    FOXS1    FOXA2    FOXK2    FOXD1
    FOXD4    FOXA1    FOXE3    FOXI2    FOXI1    FOXL2

    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) 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

    10/146 SNPs in FOXC1 are shown (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--------
    VAR_0078174
    ----see VAR_0078172 S L mis40--------
    VAR_0079454
    ----see VAR_0079452 I M mis40--------

    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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 20/46 diseases for FOXC1 (see all 46):    About MalaCards
    intestinal atresia    iris hypoplasia and glaucoma    ring chromosome 6    ring chromosomes
    axenfeld-rieger syndrome type 3    iridogoniodysgenesis, type 1    glaucoma, congenital    axenfeld-rieger syndrome
    iris hypoplasia    persistent hyperplastic primary vitreous    juvenile glaucoma    peters anomaly
    aniridia    primary congenital glaucoma    hereditary lymphedema    cataract-glaucoma
    glaucoma    ductal carcinoma in situ    developmental disabilities    lymphedema

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

    FOXC1 for disorders           About GeneDecksing

    10/19 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)
    About This Section

    PubMed articles for FOXC1 gene, integrated from 9 sources (see all 148):
    (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. Molecular analysis of FOXC1 in subjects presenting wi th severe developmental eye anomalies. (PubMed id 19626132)1, 4, 9 Kaur K....Ragoussis J. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
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      Query String
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    (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

    (According to HUGE)
    About This Section
      --

    (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

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



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