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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 Adipogenesis and Glucose / Energy Metabolism. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity 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

Additional gene information for FOXC2 Gene

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

Genomics for FOXC2 Gene

GeneHancer (GH) Regulatory Elements for FOXC2 Gene

Promoters and enhancers for FOXC2 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
GH16J086661 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 16.9 +96.6 96611 4.9 SIN3A ZNF143 ATF7 FOS RUNX3 PPARG MBD2 MAFF SMARCA4 ETV4 LOC101928659 FOXC2 MTHFSD FOXL1 LINC02188 ENSG00000261161 GINS2 ENSG00000274478
GH16J086491 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.2 -62.1 -62120 27.5 FOXA2 ARID4B SIN3A FEZF1 ZNF2 ZNF48 GLIS2 ZNF213 ZNF416 ZNF143 FOXF1 MTHFSD LOC101928682 LOC101928659 ENSG00000269826 ENSG00000261177 ENSG00000269898 RPL39P30 C16orf95 LINC00917
GH16J086589 Enhancer 1.2 Ensembl ENCODE dbSUPER 12.1 +23.1 23115 2.1 FOXA2 NFIB YBX1 TCF12 ZNF207 ATF7 FOS CEBPB SP1 NFIL3 MTHFSD ENSG00000270184 RN7SL381P FOXC2 ENSG00000269901 RNU1-103P ENSG00000270020 ENSG00000279142 GC16P086582
GH16J087052 Enhancer 1.1 Ensembl ENCODE 11.6 +485.9 485930 1.4 HDAC1 ARNT TCF12 CBX5 GATA2 ATF7 CREM ZBTB2 ZBTB11 NCOA1 FOXC2 MTHFSD LOC105371393 GC16M086906
GH16J086563 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 4.5 +6.0 5964 20.2 PKNOX1 ARNT ARID4B SIN3A ZNF2 YY1 ZNF213 ZNF207 ZNF143 FOS MTHFSD FOXC2-AS1 ENSG00000270020 FOXC2 FOXL1 GC16P086582
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FOXC2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FOXC2 gene promoter:
  • MyoD
  • C/EBPalpha
  • Pax-4a

Genomic Locations for FOXC2 Gene

Genomic Locations for FOXC2 Gene
chr16:86,567,251-86,569,728
(GRCh38/hg38)
Size:
2,478 bases
Orientation:
Plus strand
chr16:86,600,857-86,602,539
(GRCh37/hg19)
Size:
1,683 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:

No data available for DME Specific Peptides for FOXC2 Gene

Domains & Families for FOXC2 Gene

Gene Families for FOXC2 Gene

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

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

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

No data available for UniProtKB/Swiss-Prot for FOXC2 Gene

Function for FOXC2 Gene

Molecular function for FOXC2 Gene

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

Phenotypes From GWAS Catalog for FOXC2 Gene

Gene Ontology (GO) - Molecular Function for FOXC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding ISM 19274049
GO:0001077 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding IDA 20956529
GO:0003677 DNA binding IEA --
GO:0003700 DNA binding transcription factor activity IDA 9169153
GO:0003705 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding IEA --
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

Clone Products

  • Addgene plasmids for FOXC2

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
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 FOXC2 gene
Compartment Confidence
nucleus 5
extracellular 2
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FOXC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 11562355
GO:0005654 nucleoplasm IDA --
GO:0016604 nuclear body IDA --
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

3 BioSystems pathways for FOXC2 Gene
1 Cell Signaling Technology pathway 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 by RNA polymerase II 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:

Clone Products

  • Addgene plasmids for FOXC2

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 CGAP 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, 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

Evidence on tissue expression from TISSUES for FOXC2 Gene

  • Heart(2.7)
  • Kidney(2.2)
  • Muscle(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FOXC2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • eyelid
  • face
  • head
Thorax:
  • heart
  • heart valve
  • lung
Limb:
  • lower limb
General:
  • blood
  • blood vessel
  • hair
  • lymph node
  • lymph vessel
  • skin
genes like me logo Genes that share expression patterns with FOXC2: view

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 33
  • 99.42 (n)
OneToOne
cow
(Bos Taurus)
Mammalia FOXC2 34 33
  • 94.01 (n)
OneToOne
dog
(Canis familiaris)
Mammalia FOXC2 34 33
  • 93.41 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Foxc2 16 34 33
  • 86.84 (n)
rat
(Rattus norvegicus)
Mammalia Foxc2 33
  • 86.77 (n)
oppossum
(Monodelphis domestica)
Mammalia FOXC2 34
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves FOXC2 34 33
  • 77.52 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FOXC2 34
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia foxc2 33
  • 73.29 (n)
Str.2696 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.508 33
zebrafish
(Danio rerio)
Actinopterygii foxl2 34
  • 32 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta fd64A 35
  • 65 (a)
fd96Cb 35
  • 62 (a)
croc 34 35
  • 27 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for FOXC2: view image

Paralogs for FOXC2 Gene

Paralogs for FOXC2 Gene

(11) SIMAP similar genes for FOXC2 Gene using alignment to 7 proteins:

  • FOXC2_HUMAN
  • I6YRR3_HUMAN
  • I6Z262_HUMAN
  • I6ZMK0_HUMAN
  • I6ZVX6_HUMAN
  • I6ZZT5_HUMAN
  • I6ZZU0_HUMAN
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 Variation AA Info Type
rs104894516 pathogenic, Distichiasis-lymphedema syndrome 86,567,632(+) C/G coding_sequence_variant, stop_gained
rs121909106 pathogenic, Distichiasis-lymphedema syndrome, Lymphedema-distichiasis (LYD) [MIM:153400] 86,567,709(+) C/T coding_sequence_variant, missense_variant
rs121909107 pathogenic, Distichiasis-lymphedema syndrome 86,567,697(+) G/A coding_sequence_variant, missense_variant
rs886041497 pathogenic, not provided 86,568,322(+) CC/CCC coding_sequence_variant, frameshift
rs145346124 likely-benign, not specified 86,568,643(+) C/T coding_sequence_variant, synonymous_variant

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)

Additional Variant Information for FOXC2 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for FOXC2 Gene

MalaCards: The human disease database

(20) MalaCards diseases for FOXC2 Gene - From: HGMD, OMIM, ClinVar, GTR, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
lymphedema-distichiasis syndrome
  • lymphedema with distichiasis
distichiasis
  • eyelashes, two rows of
lymphedema
  • lymphatic edema
hereditary lymphedema
  • milroy's disease
varicose veins
  • varices
- 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.

Additional Disease Information for FOXC2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 58
  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 LM … MrOS Research Group (Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2009) 3 22 44 58
  3. HGF and MET mutations in primary and secondary lymphedema. (PMID: 18564920) Finegold DN … Ferrell RE (Lymphatic research and biology 2008) 3 22 44 58
  4. A recurrent ITGA9 missense mutation in human fetuses with severe chylothorax: possible correlation with poor response to fetal therapy. (PMID: 18973153) Ma GC … Chen M (Prenatal diagnosis 2008) 3 22 44 58
  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 (International journal of molecular medicine 2006) 3 22 44 58

Products for FOXC2 Gene

Sources for FOXC2 Gene

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