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Aliases for FOXC1 Gene

Aliases for FOXC1 Gene

  • Forkhead Box C1 2 3 5
  • Forkhead-Related Transcription Factor 3 3 4
  • Forkhead-Related Protein FKHL7 3 4
  • FREAC-3 3 4
  • FREAC3 3 4
  • FKHL7 3 4
  • Forkhead/Winged Helix-Like Transcription Factor 7 3
  • Forkhead, Drosophila, Homolog-Like 7 3
  • Forkhead-Related Activator 3 3
  • Forkhead Box C1 Protein 3
  • Myeloid Factor-Delta 3
  • RIEG3 3
  • IRID1 3
  • IGDA 3
  • IHG1 3
  • ARA 3

External Ids for FOXC1 Gene

Previous HGNC Symbols for FOXC1 Gene

  • FKHL7
  • IRID1

Previous GeneCards Identifiers for FOXC1 Gene

  • GC06P001595
  • GC06P001555
  • GC06P001480

Summaries for FOXC1 Gene

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 iridogoniodysgenesis, type 1. Among its related pathways are Heart Development and Transcriptional Regulatory Network in Embryonic Stem Cell. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and transcription factor binding. An important paralog of this gene is FOXE3.

UniProtKB/Swiss-Prot for FOXC1 Gene

  • 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 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FOXC1 Gene

Genomics for FOXC1 Gene

Regulatory Elements for FOXC1 Gene

Genomic Location for FOXC1 Gene

Chromosome:
6
Start:
1,609,972 bp from pter
End:
1,613,897 bp from pter
Size:
3,926 bases
Orientation:
Plus strand

Genomic View for FOXC1 Gene

Genes around FOXC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FOXC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FOXC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FOXC1 Gene

Proteins for FOXC1 Gene

  • Protein details for FOXC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q12948-FOXC1_HUMAN
    Recommended name:
    Forkhead box protein C1
    Protein Accession:
    Q12948
    Secondary Accessions:
    • Q86UP7
    • Q9BYM1
    • Q9NUE5
    • Q9UDD0
    • Q9UP06

    Protein attributes for FOXC1 Gene

    Size:
    553 amino acids
    Molecular mass:
    56789 Da
    Quaternary structure:
    • Monomer. Interacts with C1QBP.

neXtProt entry for FOXC1 Gene

Proteomics data for FOXC1 Gene at MOPED

Post-translational modifications for FOXC1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FOXC1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for FOXC1 (FOXC1)

No data available for DME Specific Peptides for FOXC1 Gene

Domains & Families for FOXC1 Gene

Gene Families for FOXC1 Gene

Protein Domains for FOXC1 Gene

Suggested Antigen Peptide Sequences for FOXC1 Gene

Graphical View of Domain Structure for InterPro Entry

Q12948

UniProtKB/Swiss-Prot:

FOXC1_HUMAN :
  • Contains 1 fork-head DNA-binding domain.
Domain:
  • Contains 1 fork-head DNA-binding domain.
genes like me logo Genes that share domains with FOXC1: view

Function for FOXC1 Gene

Molecular function for FOXC1 Gene

GENATLAS Biochemistry:
transcription factor-like 7,ubiquitously expressed,with a Drosophila homeo forkhead DNA binding domain homolog,homolog to the murine MF1,disrupted in congenital hydrocephalus
UniProtKB/Swiss-Prot 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 Ontology (GO) - Molecular Function for FOXC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15684392
GO:0044212 transcription regulatory region DNA binding IEA,ISS --
genes like me logo Genes that share ontologies with FOXC1: view
genes like me logo Genes that share phenotypes with FOXC1: view

Human Phenotype Ontology for FOXC1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FOXC1 Gene

MGI Knock Outs for FOXC1:

Animal Model Products

  • Taconic Biosciences Mouse Models for FOXC1

miRNA for FOXC1 Gene

miRTarBase miRNAs that target FOXC1

Transcription Factor Targets for FOXC1 Gene

Selected GeneGlobe predicted Target genes for FOXC1

No data available for Enzyme Numbers (IUBMB) and HOMER Transcription for FOXC1 Gene

Localization for FOXC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FOXC1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FOXC1 Gene COMPARTMENTS Subcellular localization image for FOXC1 gene
Compartment Confidence
nucleus 5
cytosol 2
cytoskeleton 1

No data available for Gene Ontology (GO) - Cellular Components for FOXC1 Gene

Pathways & Interactions for FOXC1 Gene

genes like me logo Genes that share pathways with FOXC1: view

Pathways by source for FOXC1 Gene

1 BioSystems pathway for FOXC1 Gene

SIGNOR curated interactions for FOXC1 Gene

Activates:

Gene Ontology (GO) - Biological Process for FOXC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development IEA --
GO:0001503 ossification IEA --
GO:0001541 ovarian follicle development IEA --
GO:0001568 blood vessel development IEA --
GO:0001654 eye development IEA,IDA 9792859
genes like me logo Genes that share ontologies with FOXC1: view

Drugs & Compounds for FOXC1 Gene

(1) Drugs for FOXC1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with FOXC1: view

Transcripts for FOXC1 Gene

mRNA/cDNA for FOXC1 Gene

(1) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(118) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for FOXC1 Gene

Forkhead box C1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for FOXC1 Gene

No ASD Table

Relevant External Links for FOXC1 Gene

GeneLoc Exon Structure for
FOXC1
ECgene alternative splicing isoforms for
FOXC1

Expression for FOXC1 Gene

mRNA expression in normal human tissues for FOXC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FOXC1 Gene

This gene is overexpressed in Artery - Tibial (x9.2), Artery - Aorta (x8.8), and Artery - Coronary (x5.1).

Protein differential expression in normal tissues from HIPED for FOXC1 Gene

This gene is overexpressed in Pancreas (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for FOXC1 Gene



SOURCE GeneReport for Unigene cluster for FOXC1 Gene Hs.348883

mRNA Expression by UniProt/SwissProt for FOXC1 Gene

Q12948-FOXC1_HUMAN
Tissue specificity: Expressed in all tissues and cell lines examined.
genes like me logo Genes that share expression patterns with FOXC1: view

Protein tissue co-expression partners for FOXC1 Gene

Primer Products

In Situ Assay Products

Orthologs for FOXC1 Gene

This gene was present in the common ancestor of animals.

Orthologs for FOXC1 Gene

Organism Taxonomy Gene Similarity Type Details
mouse
(Mus musculus)
Mammalia Foxc1 35
  • 90.03 (n)
  • 92.48 (a)
Foxc1 16
Foxc1 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia FOXC1 35
  • 99.44 (n)
  • 99.58 (a)
rat
(Rattus norvegicus)
Mammalia Foxc1 35
  • 89.36 (n)
  • 91.93 (a)
cow
(Bos Taurus)
Mammalia -- 36
  • 26 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia FOXI3 36
  • 27 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia FOXC1 36
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia foxc1 35
  • 73.02 (n)
  • 74.8 (a)
African clawed frog
(Xenopus laevis)
Amphibia xfd-11 35
zebrafish
(Danio rerio)
Actinopterygii foxc1a 35
  • 72.06 (n)
  • 73.74 (a)
foxc1a 35
foxc1a 36
  • 76 (a)
ManyToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10228 35
fruit fly
(Drosophila melanogaster)
Insecta croc 37
  • 83 (a)
fd64A 37
  • 64 (a)
fd96Cb 37
  • 63 (a)
croc 36
  • 29 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 30 (a)
ManyToMany
Species with no ortholog for FOXC1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FOXC1 Gene

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

Paralogs for FOXC1 Gene

(20) SIMAP similar genes for FOXC1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with FOXC1: view

Variants for FOXC1 Gene

Sequence variations from dbSNP and Humsavar for FOXC1 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
VAR_007815 Iridogoniodysgenesis anomaly (IGDA)
VAR_007815 Peters anomaly (PETAN)
VAR_007816 Axenfeld-Rieger syndrome 3 (RIEG3)
VAR_007817 Axenfeld-Rieger syndrome 3 (RIEG3)
VAR_007944 Axenfeld-Rieger syndrome 3 (RIEG3)

Structural Variations from Database of Genomic Variants (DGV) for FOXC1 Gene

Variant ID Type Subtype PubMed ID
nsv883376 CNV Gain 21882294
dgv992n67 CNV Gain 20364138
dgv6426n71 CNV Loss 21882294
nsv883382 CNV Loss 21882294
nsv823397 CNV Gain 20364138
nsv823399 CNV Gain 20364138
nsv823400 CNV Gain 20364138

Variation tolerance for FOXC1 Gene

Gene Damage Index Score: 7.63; 82.73% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FOXC1 Gene

HapMap Linkage Disequilibrium report
FOXC1
Human Gene Mutation Database (HGMD)
FOXC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FOXC1 Gene

Disorders for FOXC1 Gene

MalaCards: The human disease database

(26) MalaCards diseases for FOXC1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
axenfeld-rieger syndrome, type 3
  • anterior segment mesenchymal dysgenesis
iridogoniodysgenesis, type 1
  • iris hypoplasia and glaucoma
peters anomaly
  • peters-plus syndrome
anterior segment mesenchymal dysgenesis
  • anterior segment ocular dysgenesis
iridogoniodysgenesis, type 2
  • iridogoniodysgenesis, type 1
- elite association - COSMIC cancer census association via MalaCards
Search FOXC1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FOXC1_HUMAN
  • 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. {ECO:0000269 PubMed:11170889, ECO:0000269 PubMed:11589884, ECO:0000269 PubMed:11740218, ECO:0000269 PubMed:12454026, ECO:0000269 PubMed:12592227, ECO:0000269 PubMed:14578375, ECO:0000269 PubMed:15277473, ECO:0000269 PubMed:15477465, ECO:0000269 PubMed:16936096, ECO:0000269 PubMed:17210863, ECO:0000269 PubMed:9620769, ECO:0000269 PubMed:9792859}. 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 (PETAN) [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. {ECO:0000269 PubMed:12614756}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for FOXC1

Genetic Association Database (GAD)
FOXC1
Human Genome Epidemiology (HuGE) Navigator
FOXC1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FOXC1
genes like me logo Genes that share disorders with FOXC1: view

No data available for Genatlas for FOXC1 Gene

Publications for FOXC1 Gene

  1. The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25. (PMID: 9620769) Nishimura D.Y. … Sheffield V.C. (Nat. Genet. 1998) 2 3 4 67
  2. Frequent aberrant DNA methylation of ABCB1, FOXC1, PPP2R2B and PTEN in ductal carcinoma in situ and early invasive breast cancer. (PMID: 20056007) Muggerud A.A. … Tost J. (Breast Cancer Res. 2010) 3 23
  3. DNA methylation profiling in doxorubicin treated primary locally advanced breast tumours identifies novel genes associated with survival and treatment response. (PMID: 20338046) Dejeux E. … Tost J. (Mol. Cancer 2010) 3 23
  4. FOXC1 is a potential prognostic biomarker with functional significance in basal-like breast cancer. (PMID: 20406990) Ray P.S. … Cui X. (Cancer Res. 2010) 3 23
  5. A new autosomal dominant Peters' anomaly phenotype expanding the anterior segment dysgenesis spectrum. (PMID: 18616618) Berker N. … Alikasifoglu M. (Acta Ophthalmol 2009) 3 23

Products for FOXC1 Gene

Sources for FOXC1 Gene

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