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... See more...

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
  • Forkhead Box Protein C1 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
  • ASGD3 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 Anterior Segment Dysgenesis 3. Among its related pathways are Heart Development and Mesodermal Commitment Pathway. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and transcription factor binding. An important paralog of this gene is FOXC2.

UniProtKB/Swiss-Prot Summary for FOXC1 Gene

  • DNA-binding transcriptional factor that plays a role in a broad range of cellular and developmental processes such as eye, bones, cardiovascular, kidney and skin development (PubMed:11782474, PubMed:15299087, PubMed:15684392, PubMed:16492674, PubMed:27907090, PubMed:14506133, PubMed:14578375, PubMed:15277473, PubMed:16449236, PubMed:17210863, PubMed:19793056, PubMed:19279310, PubMed:25786029, PubMed:27804176). Acts either as a transcriptional activator or repressor (PubMed:11782474). Binds to the consensus binding site 5'-[G/C][A/T]AAA[T/C]AA[A/C]-3' in promoter of target genes (PubMed:7957066, PubMed:11782474, PubMed:12533514, PubMed:14506133, PubMed:19793056, PubMed:27804176). Upon DNA-binding, promotes DNA bending (PubMed:7957066, PubMed:14506133). Acts as a transcriptional coactivator (PubMed:26565916). Stimulates Indian hedgehog (Ihh)-induced target gene expression mediated by the transcription factor GLI2, and hence regulates endochondral ossification (By similarity). Acts also as a transcriptional coregulator by increasing DNA-binding capacity of GLI2 in breast cancer cells (PubMed:26565916). 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 (PubMed:17993506). Cooperates with transcription factor FOXC2 in regulating expression of genes that maintain podocyte integrity (By similarity). Promotes cell growth inhibition by stopping the cell cycle in the G1 phase through TGFB1-mediated signals (PubMed:12408963). Involved in epithelial-mesenchymal transition (EMT) induction by increasing cell proliferation, migration and invasion (PubMed:20406990, PubMed:22991501). Involved in chemokine CXCL12-induced endothelial cell migration through the control of CXCR4 expression (By similarity). Plays a role in the gene regulatory network essential for epidermal keratinocyte terminal differentiation (PubMed:27907090). Essential developmental transcriptional factor required for mesoderm-derived tissues, such as the somites, skin, bone and cartilage. Positively regulates CXCL12 and stem cell factor expression in bone marrow mesenchymal progenitor cells, and hence plays a role in the development and maintenance of mesenchymal niches for haematopoietic stem and progenitor cells (HSPC). Plays a role in corneal transparency by preventing both blood vessel and lymphatic vessel growth during embryonic development in a VEGF-dependent manner. Involved in chemokine CXCL12-induced endothelial cell migration through the control of CXCR4 expression (By similarity). May function as a tumor suppressor (PubMed:12408963).

Gene Wiki entry for FOXC1 Gene

Additional gene information for FOXC1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FOXC1 Gene

Genomics for FOXC1 Gene

GeneHancer (GH) Regulatory Elements for FOXC1 Gene

Promoters and enhancers for FOXC1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J001608 Promoter/Enhancer 2 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 8.7 +3.3 3284 8.8 ZSCAN5C POLR2G PHF8 FOS ZFX CTCF ZNF639 ZNF10 ZIC2 POLR2A lnc-FOXF2-9 FOXC1 FOXQ1 NONHSAG042612.2 hsa-miR-5096-033 lnc-GMDS-6
GH06J001641 Enhancer 1 Ensembl ENCODE 12.1 +31.7 31686 2 ZNF217 ZIC2 KLF4 CTBP1 GATAD2B HCFC1 HES1 SIN3A ESRRA MYC lnc-GMDS-6 hsa-miR-5096-033 FOXC1 lnc-FOXF2-9 GMDS
GH06J001708 Enhancer 0.8 Ensembl ENCODE CraniofacialAtlas 14.3 +99.1 99086 3.2 CUX1 RBM22 SPI1 POLR2A SCRT2 FOXC1 piR-43905 lnc-MYLK4-36 GMDS
GH06J001767 Enhancer 1.1 Ensembl ENCODE CraniofacialAtlas 7.2 +157.1 157086 3.2 ZSCAN5C REST MEF2C CUX1 OSR2 WT1 FOXA2 NFIC CEBPB MEF2B FOXC1 ENSG00000270937 piR-40110-563 lnc-MYLK4-34 GMDS
GH06J001723 Enhancer 0.9 Ensembl ENCODE CraniofacialAtlas 7.9 +115.0 114985 2.2 KLF7 CTBP1 KLF9 ZBTB17 NR3C1 FOXA1 FOXP2 DPF2 PRDM6 POLR2A lnc-MYLK4-36 FOXC1 piR-43905 GMDS
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FOXC1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FOXC1

Top Transcription factor binding sites by QIAGEN in the FOXC1 gene promoter:
  • FOXO1
  • FOXO1a
  • FOXO4
  • Nkx2-5
  • SRF
  • SRF (504 AA)
  • STAT1

Genomic Locations for FOXC1 Gene

Genomic Locations for FOXC1 Gene
chr6:1,609,915-1,613,897
(GRCh38/hg38)
Size:
3,983 bases
Orientation:
Plus strand
chr6:1,610,681-1,614,132
(GRCh37/hg19)
Size:
3,452 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 (PubMed:18676636). Interacts (via N-terminus) with GLI2 (via C-terminal internal region); this interaction is direct and increases GLI2 DNA-binding and transcriptional activity through a smoothened (SMO)-independent Hedgehog (Hh) signaling pathway (PubMed:26565916). Interacts (via C-terminus domain) with PITX2 isoform 3 (via homeobox domain) (PubMed:16449236). Interacts with FLNA and PBX1 (PubMed:15684392).

neXtProt entry for FOXC1 Gene

Post-translational modifications for FOXC1 Gene

  • Phosphorylated (PubMed:11782474, PubMed:19279310, PubMed:25786029). Phosphorylated on Ser-272 in response to epidermal growth factor (EGF) in a ERK1/2 MAPK-dependent signaling pathway; phosphorylation contributes to its protein stability and transcriptional activity (PubMed:16492674).
  • Sumoylated preferentially with SUMO2 or SUMO3 (PubMed:22493429). Desumoylated by SENP2 (PubMed:22493429).
  • Ubiquitinated, leading to its proteasomal degradation (PubMed:16492674).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FOXC1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FOXC1 Gene

Domains & Families for FOXC1 Gene

Gene Families for FOXC1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for FOXC1 Gene

Suggested Antigen Peptide Sequences for FOXC1 Gene

GenScript: Design optimal peptide antigens:
  • Forkhead box C1 (C6KMR8_HUMAN)
  • Forkhead-related transcription factor 3 (FOXC1_HUMAN)
genes like me logo Genes that share domains with FOXC1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for FOXC1 Gene

Function for FOXC1 Gene

Molecular function for FOXC1 Gene

UniProtKB/Swiss-Prot Function:
DNA-binding transcriptional factor that plays a role in a broad range of cellular and developmental processes such as eye, bones, cardiovascular, kidney and skin development (PubMed:11782474, PubMed:15299087, PubMed:15684392, PubMed:16492674, PubMed:27907090, PubMed:14506133, PubMed:14578375, PubMed:15277473, PubMed:16449236, PubMed:17210863, PubMed:19793056, PubMed:19279310, PubMed:25786029, PubMed:27804176). Acts either as a transcriptional activator or repressor (PubMed:11782474). Binds to the consensus binding site 5'-[G/C][A/T]AAA[T/C]AA[A/C]-3' in promoter of target genes (PubMed:7957066, PubMed:11782474, PubMed:12533514, PubMed:14506133, PubMed:19793056, PubMed:27804176). Upon DNA-binding, promotes DNA bending (PubMed:7957066, PubMed:14506133). Acts as a transcriptional coactivator (PubMed:26565916). Stimulates Indian hedgehog (Ihh)-induced target gene expression mediated by the transcription factor GLI2, and hence regulates endochondral ossification (By similarity). Acts also as a transcriptional coregulator by increasing DNA-binding capacity of GLI2 in breast cancer cells (PubMed:26565916). 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 (PubMed:17993506). Cooperates with transcription factor FOXC2 in regulating expression of genes that maintain podocyte integrity (By similarity). Promotes cell growth inhibition by stopping the cell cycle in the G1 phase through TGFB1-mediated signals (PubMed:12408963). Involved in epithelial-mesenchymal transition (EMT) induction by increasing cell proliferation, migration and invasion (PubMed:20406990, PubMed:22991501). Involved in chemokine CXCL12-induced endothelial cell migration through the control of CXCR4 expression (By similarity). Plays a role in the gene regulatory network essential for epidermal keratinocyte terminal differentiation (PubMed:27907090). Essential developmental transcriptional factor required for mesoderm-derived tissues, such as the somites, skin, bone and cartilage. Positively regulates CXCL12 and stem cell factor expression in bone marrow mesenchymal progenitor cells, and hence plays a role in the development and maintenance of mesenchymal niches for haematopoietic stem and progenitor cells (HSPC). Plays a role in corneal transparency by preventing both blood vessel and lymphatic vessel growth during embryonic development in a VEGF-dependent manner. Involved in chemokine CXCL12-induced endothelial cell migration through the control of CXCR4 expression (By similarity). May function as a tumor suppressor (PubMed:12408963).
UniProtKB/Swiss-Prot Induction:
Up-regulated during the progression of epidermal keratinocyte differentiation (at protein level) (PubMed:27907090). Up-regulated upon calcium-mediated keratinocyte differentiation (PubMed:27907090). Up-regulated by transforming growth factor TGFB1 (PubMed:12408963).
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

Phenotypes From GWAS Catalog for FOXC1 Gene

Gene Ontology (GO) - Molecular Function for FOXC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IDA 7957066
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific NAS,IEA 19274049
GO:0001223 transcription coactivator binding IEA,ISS --
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IC --
GO:0003677 DNA binding IEA,IDA 7957066
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

CRISPR Products

miRNA for FOXC1 Gene

miRTarBase miRNAs that target FOXC1

Transcription Factor Targets for FOXC1 Gene

Selected GeneGlobe predicted Target genes for FOXC1

Clone Products

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

Nucleus. Note=Colocalizes with PITX2 isoform 3 in the nucleus at subnuclear chromatine regions (PubMed:16449236). Colocalizes with CBX5 to a heterochromatin-rich region of the nucleus (PubMed:15684392). Colocalizes with GLI2 in the nucleus (By similarity). {ECO:0000250 UniProtKB:Q61572, ECO:0000269 PubMed:15684392, ECO:0000269 PubMed:16449236}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FOXC1 gene
Compartment Confidence
nucleus 5
cytosol 4
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Cytosol (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FOXC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005634 nucleus IBA,IDA 11179011
GO:0005654 nucleoplasm IDA --
GO:0005720 nuclear heterochromatin IDA 15684392
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with FOXC1: view

Pathways & Interactions for FOXC1 Gene

PathCards logo

SuperPathways for FOXC1 Gene

SuperPathway Contained pathways
1 Transcriptional Regulatory Network in Embryonic Stem Cell
-
2 Heart Development
3 Mesodermal Commitment Pathway
genes like me logo Genes that share pathways with FOXC1: view

Pathways by source for FOXC1 Gene

2 BioSystems pathways for FOXC1 Gene
1 Qiagen pathway for FOXC1 Gene
  • Transcriptional Regulatory Network in Embryonic Stem Cell

SIGNOR curated interactions for FOXC1 Gene

Activates:

Gene Ontology (GO) - Biological Process for FOXC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II ISS --
GO:0001501 skeletal system development IEA --
GO:0001503 ossification IEA --
GO:0001525 angiogenesis IEA --
GO:0001541 ovarian follicle development IEA --
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 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

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

No ASD Table

Relevant External Links for FOXC1 Gene

GeneLoc Exon Structure for
FOXC1

Expression for FOXC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for FOXC1 Gene



Protein tissue co-expression partners for FOXC1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FOXC1

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 keratinocytes of epidermis and hair follicle (PubMed:27907090). Expressed strongly in microvascular invasion (MVI) formation, basal-like breast cancer (BLBC) and hepatocellular tumors (PubMed:20406990, PubMed:22991501). Expressed in breast cancers (at protein level) (PubMed:26565916). Expressed in hematopoietic cells (PubMed:8499623).

Evidence on tissue expression from TISSUES for FOXC1 Gene

  • Heart(3.9)
  • Stomach(3.7)
  • Nervous system(3.7)
  • Muscle(3.5)
  • Kidney(3.3)
  • Intestine(3)
  • Liver(2.9)
  • Eye(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FOXC1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cheek
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • meninges
  • mouth
  • nose
  • pituitary gland
  • skull
  • tooth
Thorax:
  • heart
  • heart valve
Abdomen:
  • abdominal wall
  • intestine
  • large intestine
Pelvis:
  • anus
  • penis
  • rectum
  • testicle
  • urethra
General:
  • blood
  • blood vessel
  • hair
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with FOXC1: view

Orthologs for FOXC1 Gene

This gene was present in the common ancestor of animals.

Orthologs for FOXC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FOXC1 30
  • 99.44 (n)
mouse
(Mus musculus)
Mammalia Foxc1 17 31 30
  • 90.03 (n)
rat
(Rattus norvegicus)
Mammalia Foxc1 30
  • 89.36 (n)
oppossum
(Monodelphis domestica)
Mammalia FOXC1 31
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FOXI3 31
  • 27 (a)
ManyToMany
cow
(Bos Taurus)
Mammalia -- 31
  • 26 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia foxc1 30
  • 73.02 (n)
African clawed frog
(Xenopus laevis)
Amphibia xfd-11 30
zebrafish
(Danio rerio)
Actinopterygii foxc1a 31 30 30
  • 72.06 (n)
ManyToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10228 30
fruit fly
(Drosophila melanogaster)
Insecta fd64A 32
  • 64 (a)
fd96Cb 32
  • 63 (a)
croc 31 32
  • 29 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 30 (a)
ManyToMany
Species where no ortholog for FOXC1 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for FOXC1: view image

Paralogs for FOXC1 Gene

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

  • FOXC1_HUMAN
  • A3KPE3_HUMAN
  • C6KMR8_HUMAN
genes like me logo Genes that share paralogs with FOXC1: view

Variants for FOXC1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FOXC1 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
568112 Pathogenic: Axenfeld-Rieger syndrome type 3 1,610,445(+) CATGCAGGCGCGCTAC INITIATIOR_CODON_VARIANT,FRAMESHIFT_VARIANT
640532 Uncertain Significance: Axenfeld-Rieger syndrome type 3 1,610,789(+) A/G MISSENSE_VARIANT
651309 Uncertain Significance: Axenfeld-Rieger syndrome type 3 1,610,931(+) C/G MISSENSE_VARIANT
660083 Uncertain Significance: Axenfeld-Rieger syndrome type 3 1,610,953(+) C/T MISSENSE_VARIANT
666565 Likely Pathogenic: Axenfeld-Rieger syndrome type 3 1,610,806(+) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for FOXC1 Gene

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

Variant ID Type Subtype PubMed ID
dgv992n67 CNV gain 20364138
nsv1016859 CNV gain 25217958
nsv1073530 CNV deletion 25765185
nsv1073531 CNV deletion 25765185
nsv1119067 CNV deletion 24896259
nsv1119068 CNV deletion 24896259
nsv600807 CNV loss 21841781
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)

Additional Variant Information for FOXC1 Gene

Human Gene Mutation Database (HGMD)
FOXC1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FOXC1

SNP Genotyping and Copy Number Assay Products

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

Disorders for FOXC1 Gene

MalaCards: The human disease database

(47) MalaCards diseases for FOXC1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
axenfeld-rieger syndrome, type 3
  • anterior segment mesenchymal dysgenesis
anterior segment dysgenesis 3
  • iris hypoplasia with glaucoma
axenfeld-rieger syndrome
  • ars
isolated aniridia
peters-plus syndrome
  • ptrpls
- 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:11179011, ECO:0000269 PubMed:11589884, ECO:0000269 PubMed:11740218, ECO:0000269 PubMed:12454026, ECO:0000269 PubMed:12592227, ECO:0000269 PubMed:14506133, ECO:0000269 PubMed:14578375, ECO:0000269 PubMed:15277473, ECO:0000269 PubMed:15477465, ECO:0000269 PubMed:16449236, ECO:0000269 PubMed:16936096, ECO:0000269 PubMed:17210863, ECO:0000269 PubMed:17653043, ECO:0000269 PubMed:19279310, ECO:0000269 PubMed:23239455, ECO:0000269 PubMed:24914578, ECO:0000269 PubMed:25786029, ECO:0000269 PubMed:27804176, ECO:0000269 PubMed:9792859}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Anterior segment dysgenesis 3 (ASGD3) [MIM:601631]: A form of anterior segment dysgenesis, a group of defects affecting anterior structures of the eye including cornea, iris, lens, trabecular meshwork, and Schlemm canal. Anterior segment dysgeneses result from abnormal migration or differentiation of the neural crest derived mesenchymal cells that give rise to components of the anterior chamber during eye development. Different anterior segment anomalies may exist alone or in combination, including iris hypoplasia, enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface. Clinical conditions falling within the phenotypic spectrum of anterior segment dysgeneses include aniridia, Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and iridogoniodysgenesis. ASGD3 inheritance is autosomal dominant. {ECO:0000269 PubMed:12614756, ECO:0000269 PubMed:18484311, ECO:0000269 PubMed:19279310, ECO:0000269 PubMed:19793056, ECO:0000269 PubMed:20881294, ECO:0000269 PubMed:9620769}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for FOXC1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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No data available for Genatlas for FOXC1 Gene

Publications for FOXC1 Gene

  1. Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations. (PMID: 20881294) D'haene B … De Baere E (Investigative ophthalmology & visual science 2011) 3 4 41 54
  2. FOXC1 is a potential prognostic biomarker with functional significance in basal-like breast cancer. (PMID: 20406990) Ray PS … Cui X (Cancer research 2010) 3 4 23 54
  3. The transcription factor gene FOXC1 exhibits a limited role in primary congenital glaucoma. (PMID: 18708620) Chakrabarti S … Thomas R (Investigative ophthalmology & visual science 2009) 3 23 41 54
  4. Severe molecular defects of a novel FOXC1 W152G mutation result in aniridia. (PMID: 19279310) Ito YA … Walter MA (Investigative ophthalmology & visual science 2009) 3 4 23 54
  5. Molecular analysis of FOXC1 in subjects presenting with severe developmental eye anomalies. (PMID: 19626132) Kaur K … Ragoussis J (Molecular vision 2009) 3 23 41 54

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Sources for FOXC1 Gene