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Aliases for FOXC2 Gene

Aliases for FOXC2 Gene

  • Forkhead Box C2 2 3 5
  • 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
  • FKHL14 3 4
  • MFH1 3 4
  • 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 Distichiasis. Among its related pathways are Heart Development and Glucose / Energy Metabolism. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and transcription regulatory region DNA binding. An important paralog of this gene is FOXC1.

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

Enhancers for FOXC2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16F086661 1.1 FANTOM5 Ensembl ENCODE 16.9 +96.6 96611 4.9 SIN3A ZNF143 FOS JUNB TBX21 PPARG MBD2 MAFF SMARCA4 ETV4 FOXC2 MTHFSD FOXL1 LOC102724344 LOC105371390 GINS2 ENSG00000274478
GH16F086589 0.7 ENCODE 12.1 +23.1 23116 2.1 SOX13 HDGF JUN YBX1 GATA3 CTBP1 ZNF366 ZNF207 NR2F6 FOS FOXC2 MTHFSD ENSG00000270020 ENSG00000279142 GC16P086582
GH16F087052 1.1 Ensembl ENCODE 11.6 +485.9 485931 1.4 HDAC1 PKNOX1 CBX3 TBL1XR1 CBX5 GATA2 KDM4B CREM ZBTB2 ZBTB11 FOXC2 MTHFSD LOC105371393 GC16M086906
GH16F086530 0.2 ENCODE 11.5 -36.0 -35985 1.3 ATF1 SAP130 SUZ12 ZSCAN9 RAD21 ZNF48 ZFHX2 PATZ1 EGR2 EZH2 MTHFSD ENSG00000270020 FOXC2 GC16M086531 PIR36172 PIR44709
GH16F086618 1.1 Ensembl ENCODE 11.4 +52.1 52059 1.4 IRF1 FOXL1 FOXC2 MTHFSD ENSG00000260387 ENSG00000279142
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around FOXC2 on UCSC Golden Path with GeneCards custom track

Promoters for FOXC2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001034760 1449 5801 TBP ZNF133 ZBTB40 RAD21 RFX5 GLIS2 ZNF143 EGR2 ZNF263 NFYA

Genomic Location for FOXC2 Gene

Chromosome:
16
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

Genes around FOXC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FOXC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

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)
  • Abcam antibodies for FOXC2

No data available for DME Specific Peptides for FOXC2 Gene

Domains & Families for FOXC2 Gene

Gene Families for FOXC2 Gene

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 :
  • Contains 1 fork-head DNA-binding domain.
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 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IDA 20956529
GO:0003677 DNA binding IEA --
GO:0003700 transcription factor activity, sequence-specific DNA binding IDA 9169153
GO:0003705 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding 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

Human Phenotype Ontology for FOXC2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FOXC2 Gene

MGI Knock Outs for FOXC2:

Animal Model Products

miRNA for FOXC2 Gene

miRTarBase miRNAs that target FOXC2

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for FOXC2

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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 5
cytoskeleton 1
extracellular 1

Gene Ontology (GO) - Cellular Components for FOXC2 Gene

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

Pathways & Interactions for FOXC2 Gene

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

Pathways by source for FOXC2 Gene

1 Cell Signaling Technology pathway for FOXC2 Gene
2 BioSystems pathways for FOXC2 Gene

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 IEA --
GO:0001503 ossification IEA --
GO:0001568 blood vessel development IEA --
GO:0001569 branching involved in blood vessel morphogenesis IEA --
genes like me logo Genes that share ontologies with FOXC2: view

No data available for SIGNOR curated interactions for FOXC2 Gene

Drugs & Compounds for FOXC2 Gene

(1) Drugs for FOXC2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for FOXC2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with FOXC2: view

Transcripts for FOXC2 Gene

mRNA/cDNA for FOXC2 Gene

(1) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(7) Selected AceView cDNA sequences:
(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:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for FOXC2

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 from GTEx, Illumina, BioGPS, and SAGE 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 (x11.5), Artery - Tibial (x10.8), and Artery - Coronary (x7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for FOXC2 Gene



NURSA nuclear receptor signaling pathways regulating expression of FOXC2 Gene:

FOXC2

SOURCE GeneReport for Unigene cluster for FOXC2 Gene:

Hs.436448
genes like me logo Genes that share expression patterns with FOXC2: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt 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
chimpanzee
(Pan troglodytes)
Mammalia FOXC2 34 35
  • 99.42 (n)
cow
(Bos Taurus)
Mammalia FOXC2 34 35
  • 94.01 (n)
dog
(Canis familiaris)
Mammalia FOXC2 34 35
  • 93.41 (n)
mouse
(Mus musculus)
Mammalia Foxc2 34 16 35
  • 86.84 (n)
rat
(Rattus norvegicus)
Mammalia Foxc2 34
  • 86.77 (n)
oppossum
(Monodelphis domestica)
Mammalia FOXC2 35
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves FOXC2 34 35
  • 77.52 (n)
lizard
(Anolis carolinensis)
Reptilia FOXC2 35
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia foxc2 34
  • 73.29 (n)
Str.2696 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.508 34
zebrafish
(Danio rerio)
Actinopterygii foxl2 35
  • 32 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta fd64A 36
  • 65 (a)
fd96Cb 36
  • 62 (a)
croc 36 35
  • 53 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 29 (a)
ManyToMany
Species where no ortholog for FOXC2 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)
  • 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

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
rs121909106 Pathogenic, Lymphedema-distichiasis (LYD) [MIM:153400] 86,567,709(+) CCTCT(C/T)GCTCA nc-transcript-variant, reference, missense
rs104894516 Pathogenic 86,567,632(+) ATCTA(C/G)CAGTT nc-transcript-variant, reference, stop-gained
rs121909107 Pathogenic 86,567,697(+) CATCC(A/G)CCACA nc-transcript-variant, reference, missense
rs145346124 Likely benign 86,568,643(+) CTCCC(C/T)GGCCA upstream-variant-2KB, reference, synonymous-codon
rs759198789 Likely benign 86,568,817(+) CCCTA(C/T)TCCTA upstream-variant-2KB, reference, synonymous-codon

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

Variant ID Type Subtype PubMed ID
dgv498n67 CNV gain 20364138
esv4262 OTHER complex 18987735
nsv1065605 CNV gain 25217958
nsv1143829 CNV deletion 24896259
nsv483044 CNV gain 15286789
nsv525024 CNV loss 19592680

Variation tolerance for FOXC2 Gene

Residual Variation Intolerance Score: 45.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.40; 27.63% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FOXC2 Gene

Human Gene Mutation Database (HGMD)
FOXC2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FOXC2

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

Disorders for FOXC2 Gene

MalaCards: The human disease database

(18) MalaCards diseases for FOXC2 Gene - From: OMIM, ClinVar, GeneTests, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
lymphedema-distichiasis syndrome
  • lymphedema-distichiasis syndrome with renal disease and diabetes mellitus
distichiasis
  • isolated distichiasis
lymphedema
  • lymphatic edema
ptosis
  • blepharoptosis
arachnoid cysts
  • arachnoid cysts, intracranial
- elite association - COSMIC cancer census association via MalaCards
Search FOXC2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FOXC2_HUMAN
  • Lymphedema-distichiasis (LYD) [MIM:153400]: A disorder characterized by primary limb lymphedema associated with distichiasis (double rows of eyelashes, with extra eyelashes growing from the Meibomian gland orifices). Swelling of the extremities, due to altered lymphatic flow, usually appears in late childhood or puberty. Most affected individuals have ocular findings including corneal irritation, recurrent conjunctivitis, and photophobia. Drooping of the upper eyelid (ptosis) is a variable feature of the lymphedema-distichiasis syndrome, occurring in about 30% of patients. {ECO:0000269 PubMed:11078474, ECO:0000269 PubMed:11371511, ECO:0000269 PubMed:11499682}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for FOXC2

Genetic Association Database (GAD)
FOXC2
Human Genome Epidemiology (HuGE) Navigator
FOXC2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 22 64
  2. High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PMID: 19453261) Yerges L.M. … Zmuda J.M. (J. Bone Miner. Res. 2009) 3 22 46 64
  3. HGF and MET mutations in primary and secondary lymphedema. (PMID: 18564920) Finegold D.N. … Ferrell R.E. (Lymphat Res Biol 2008) 3 22 46 64
  4. A recurrent ITGA9 missense mutation in human fetuses with severe chylothorax: possible correlation with poor response to fetal therapy. (PMID: 18973153) Ma G.C. … Chen M. (Prenat. Diagn. 2008) 3 22 46 64
  5. Association of polymorphisms in forkhead box C2 and perilipin genes with bone mineral density in community-dwelling Japanese individuals. (PMID: 16786163) Yamada Y. … Shimokata H. (Int. J. Mol. Med. 2006) 3 22 46 64

Products for FOXC2 Gene

Sources for FOXC2 Gene

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