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Aliases for FOXC2 Gene

Aliases for FOXC2 Gene

  • Forkhead Box C2 2 3
  • FKHL14 3 4 6
  • MFH1 3 4 6
  • Forkhead Box C2 (MFH-1, Mesenchyme Forkhead 1) 2 3
  • Forkhead-Related Protein FKHL14 3 4
  • Mesenchyme Fork Head Protein 1 3 4
  • Transcription Factor FKH-14 3 4
  • Mesenchyme Forkhead 1 2 3
  • Forkhead, Drosophila, Homolog-Like 14 3
  • MFH-1,Mesenchyme Forkhead 1 3
  • Forkhead Box Protein C2 3
  • MFH-1 Protein 4
  • MFH-1 3
  • LD 3

External Ids for FOXC2 Gene

Previous HGNC Symbols for FOXC2 Gene

  • FKHL14

Previous GeneCards Identifiers for FOXC2 Gene

  • GC16P077956
  • GC16P087633
  • GC16P086341
  • GC16P086382
  • GC16P085158
  • GC16P086600
  • GC16P072340

Summaries for FOXC2 Gene

Entrez Gene Summary for FOXC2 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 may play a role in the development of mesenchymal tissues. [provided by RefSeq, Jul 2008]

GeneCards Summary for FOXC2 Gene

FOXC2 (Forkhead Box C2) is a Protein Coding gene. Diseases associated with FOXC2 include lymphedema-distichiasis syndrome and arachnoid cysts. Among its related pathways are Heart Development and Adipogenesis. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and transcription factor binding. An important paralog of this gene is FOXE3.

UniProtKB/Swiss-Prot for FOXC2 Gene

  • Transcriptional activator. Might be involved in the formation of special mesenchymal tissues.

Gene Wiki entry for FOXC2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FOXC2 Gene

Genomics for FOXC2 Gene

Regulatory Elements for FOXC2 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for FOXC2 Gene

Start:
86,567,251 bp from pter
End:
86,569,728 bp from pter
Size:
2,478 bases
Orientation:
Plus strand

Genomic View for FOXC2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for FOXC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FOXC2 Gene

Proteins for FOXC2 Gene

  • Protein details for FOXC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99958-FOXC2_HUMAN
    Recommended name:
    Forkhead box protein C2
    Protein Accession:
    Q99958
    Secondary Accessions:
    • C6KMR9
    • Q14DA6

    Protein attributes for FOXC2 Gene

    Size:
    501 amino acids
    Molecular mass:
    53719 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for FOXC2 Gene

neXtProt entry for FOXC2 Gene

Proteomics data for FOXC2 Gene at MOPED

Post-translational modifications for FOXC2 Gene

  • Phosphorylation regulates FOXC2 transcriptional activity by promoting its recruitment to chromatin.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FOXC2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for FOXC2 (FOXC2)

No data available for DME Specific Peptides for FOXC2 Gene

Domains for FOXC2 Gene

Gene Families for FOXC2 Gene

HGNC:
  • FOX :Forkhead boxes

Protein Domains for FOXC2 Gene

Suggested Antigen Peptide Sequences for FOXC2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q99958

UniProtKB/Swiss-Prot:

FOXC2_HUMAN :
  • Q99958
Domain:
  • Contains 1 fork-head DNA-binding domain.
genes like me logo Genes that share domains with FOXC2: view

Function for FOXC2 Gene

Molecular function for FOXC2 Gene

GENATLAS Biochemistry:
transcription factor-like 14,with a Drosophila homeo forkhead DNA binding domain homolog,homolog to mouse mesenchyme forkhead 1 (MFH-1)
UniProtKB/Swiss-Prot Function:
Transcriptional activator. Might be involved in the formation of special mesenchymal tissues.

Gene Ontology (GO) - Molecular Function for FOXC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001077 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IDA 20956529
GO:0003677 DNA binding --
GO:0003700 sequence-specific DNA binding transcription factor activity IDA 9169153
GO:0003705 RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity IEA --
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with FOXC2: view
genes like me logo Genes that share phenotypes with FOXC2: view

Animal Models for FOXC2 Gene

MGI Knock Outs for FOXC2:

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for FOXC2

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for FOXC2 Gene

Localization for FOXC2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FOXC2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FOXC2 Gene COMPARTMENTS Subcellular localization image for FOXC2 gene
Compartment Confidence
nucleus 4
cytoskeleton 1
extracellular 1

Gene Ontology (GO) - Cellular Components for FOXC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 11562355
genes like me logo Genes that share ontologies with FOXC2: view

Pathways for FOXC2 Gene

SuperPathways for FOXC2 Gene

Superpath Contained pathways
1 Heart Development
2 Adipogenesis
genes like me logo Genes that share pathways with FOXC2: view

Pathways by source for FOXC2 Gene

2 BioSystems pathways for FOXC2 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for FOXC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter ISS --
GO:0001501 skeletal system development --
GO:0001503 ossification IEA --
GO:0001568 blood vessel development --
GO:0001569 patterning of blood vessels IEA --
genes like me logo Genes that share ontologies with FOXC2: view

Compounds for FOXC2 Gene

(2) Novoseek inferred chemical compound relationships for FOXC2 Gene

Compound -log(P) Hits PubMed IDs
glucose 4.06 2
lipid 0 1
genes like me logo Genes that share compounds with FOXC2: view

Transcripts for FOXC2 Gene

mRNA/cDNA for FOXC2 Gene

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

Unigene Clusters for FOXC2 Gene

Forkhead box C2 (MFH-1, mesenchyme forkhead 1):
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for FOXC2

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for FOXC2 Gene

No ASD Table

Relevant External Links for FOXC2 Gene

GeneLoc Exon Structure for
FOXC2
ECgene alternative splicing isoforms for
FOXC2

Expression for FOXC2 Gene

mRNA expression in normal human tissues for FOXC2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FOXC2 Gene

This gene is overexpressed in Artery - Aorta (11.5), Artery - Tibial (10.8), and Artery - Coronary (7.7).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for FOXC2 Gene

SOURCE GeneReport for Unigene cluster for FOXC2 Gene Hs.436448

genes like me logo Genes that share expressions with FOXC2: view

In Situ Assay Products

No data available for Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Expression partners for FOXC2 Gene

Orthologs for FOXC2 Gene

This gene was present in the common ancestor of animals.

Orthologs for FOXC2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia FOXC2 35
  • 94.01 (n)
  • 96.21 (a)
FOXC2 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FOXC2 35
  • 93.41 (n)
  • 95.41 (a)
FOXC2 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Foxc2 35
  • 86.84 (n)
  • 88.26 (a)
Foxc2 16
Foxc2 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia FOXC2 35
  • 99.42 (n)
  • 99.26 (a)
FOXC2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Foxc2 35
  • 86.77 (n)
  • 87.85 (a)
oppossum
(Monodelphis domestica)
Mammalia FOXC2 36
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves FOXC2 35
  • 77.52 (n)
  • 76.83 (a)
FOXC2 36
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FOXC2 36
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia foxc2 35
  • 73.29 (n)
  • 72.05 (a)
Str.2696 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.508 35
zebrafish
(Danio rerio)
Actinopterygii foxl2 36
  • 32 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta croc 37
  • 53 (a)
fd64A 37
  • 65 (a)
fd96Cb 37
  • 62 (a)
croc 36
  • 27 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 29 (a)
ManyToMany
Species with no ortholog for FOXC2:
  • 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)
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • 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 FOXC2 Gene

ENSEMBL:
Gene Tree for FOXC2 (if available)
TreeFam:
Gene Tree for FOXC2 (if available)

Paralogs for FOXC2 Gene

Selected SIMAP similar genes for FOXC2 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with FOXC2: view

Variants for FOXC2 Gene

Sequence variations from dbSNP and Humsavar for FOXC2 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type MAF
VAR_018418 Lymphedema-distichiasis (LYD)
VAR_060950 -

Structural Variations from Database of Genomic Variants (DGV) for FOXC2 Gene

Variant ID Type Subtype PubMed ID
esv4262 CNV Complex 18987735
nsv525024 CNV Loss 19592680
dgv498n67 CNV Gain 20364138
nsv907132 CNV Loss 21882294
dgv2947n71 CNV Loss 21882294
nsv907137 CNV Loss 21882294
nsv907138 CNV Loss 21882294

Relevant External Links for FOXC2 Gene

HapMap Linkage Disequilibrium report
FOXC2
Human Gene Mutation Database (HGMD)
FOXC2

PCR Panel Products

  • Copy Number PCR Panels: for FOXC2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FOXC2 Gene

Disorders for FOXC2 Gene

(1) OMIM Diseases for FOXC2 Gene (602402)

UniProtKB/Swiss-Prot

FOXC2_HUMAN
  • Lymphedema, hereditary, 2 (LMPH2) [MIM:153200]: A chronic disabling condition which results in swelling of the extremities due to altered lymphatic flow. Patients with lymphedema suffer from recurrent local infections, and physical impairment. {ECO:0000269 PubMed:11078474}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Lymphedema-yellow nails (LYYN) [MIM:153300]: A disorder characterized by yellow, dystrophic, thick and slowly growing nails, associated with lymphedema and respiratory involvement. Lymphedema occurs more often in the lower limbs. It can appear at birth or later in life. Onset generally follows the onset of ungual abnormalities. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Lymphedema-distichiasis (LYD) [MIM:153400]: A disorder characterized by primary limb lymphedema usually starting at puberty (but in some cases later or at birth) and associated with distichiasis (double rows of eyelashes, with extra eyelashes growing from the Meibomian gland orifices). Drooping of the upper eyelid (ptosis) is a variable feature of the lymphedema-distichiasis syndrome, occurring in about 30% of patients. {ECO:0000269 PubMed:11499682}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for FOXC2 Gene

(17) Novoseek inferred disease relationships for FOXC2 Gene

Disease -log(P) Hits PubMed IDs
lymphedema-distichiasis syndrome 98.7 15
distichiasis 97.2 14
lymphedema primary 92.4 5
congenital lymphedema 90.4 4
lymphedema 87.6 19

Relevant External Links for FOXC2

GeneTests
FOXC2
GeneReviews
FOXC2
Genetic Association Database (GAD)
FOXC2
Human Genome Epidemiology (HuGE) Navigator
FOXC2
genes like me logo Genes that share disorders with FOXC2: view

No data available for Genatlas for FOXC2 Gene

Publications for FOXC2 Gene

  1. Isolation of the mouse (MFH-1) and human (FKHL 14) mesenchyme fork head-1 genes reveals conservation of their gene and protein structures. (PMID: 9169153) Miura N. … Sugiyama T. (Genomics 1997) 2 3 4 23
  2. Truncating mutations in FOXC2 cause multiple lymphedema syndromes. (PMID: 11371511) Finegold D.N. … Ferrell R.E. (Hum. Mol. Genet. 2001) 3 4 23
  3. Analysis of lymphoedema-distichiasis families for FOXC2 mutations reveals small insertions and deletions throughout the gene. (PMID: 11499682) Bell R. … Jeffery S. (Hum. Genet. 2001) 3 4 23
  4. FOXC2 mRNA Expression and a 5' untranslated region polymorphism of the gene are associated with insulin resistance. (PMID: 12453913) RidderstrAYle M. … Groop L. (Diabetes 2002) 3 23 48
  5. Genetic variation in the human winged helix/forkhead transcription factor gene FOXC2 in Pima Indians. (PMID: 12716768) Kovacs P. … Baier L.J. (Diabetes 2003) 3 23 48

Products for FOXC2 Gene

  • Addgene plasmids for FOXC2

Sources for FOXC2 Gene

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