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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

FOXC2 Gene

protein-coding GIFtS: 57
GCID: GC16P086600

forkhead box C2 (MFH-1, mesenchyme forkhead 1)

(Previous symbol: FKHL14)

Explore 28 diseases affiliated with
FOXC2 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Forkhead Box C2 (MFH-1, Mesenchyme Forkhead 1)¹ ²		Transcription Factor FKH-14² ³
FKHL14¹ ² ³ ⁵		LD²
MFH1² ³ ⁵		Forkhead Box Protein C2²
MFH-1¹ ²		Forkhead, Drosophila, Homolog-Like 14²
Forkhead-Related Protein FKHL14² ³		MFH-1,Mesenchyme Forkhead 1²
Mesenchyme Fork Head Protein 1² ³		MFH-1 Protein³

External Ids:	HGNC: 3801¹	Entrez Gene: 2303²	Ensembl: ENSG00000176692⁷	OMIM: 602402⁵	UniProtKB: Q99958³

Export aliases for FOXC2 gene to outside databases

Previous GC identifers: GC16P077956 GC16P087633 GC16P086341 GC16P086382 GC16P085158 GC16P072340

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for FOXC2:

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)

UniProtKB/Swiss-Prot: FOXC2_HUMAN, Q99958

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

Gene Wiki entry for FOXC2

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000016.9 NC_018927.1 NT_010498.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the FOXC2 gene promoter:
MyoD Pax-4a C/EBPalpha
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search SABiosciences Chromatin IP Primers for FOXC2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FOXC2

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16q24.1 Ensembl cytogenetic band: 16q24.1 HGNC cytogenetic band: 16q24.1

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

GeneLoc information about chromosome 16 GeneLoc Exon Structure

GeneLoc location for GC16P086600: view genomic region (about GC identifiers)

Start:	86,600,857 bp from pter	End:	86,602,539 bp from pter
Size:	1,683 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: FOXC2_HUMAN, Q99958 (See protein sequence)

Recommended Name: Forkhead box protein C2

Size: 501 amino acids; 53719 Da

Subcellular location: Nucleus (Probable)

1 PDB 3D structure from and Proteopedia for FOXC2:

1D5V (3D)

Secondary accessions: C6KMR9 Q14DA6

Explore the universe of human proteins at neXtProt for FOXC2: NX_Q99958

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q99958

FOXC2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_005242.1

ENSEMBL proteins:

ENSP00000326371

Human Recombinant Protein Products for FOXC2:

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	Uscn Proteins for FOXC2

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	16081467
GO:0005667	transcription factor complex	IBA	--

FOXC2 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for FOXC2

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

FOXC2 for domains About GeneDecksing

3 InterPro domains/families:

IPR011991 WHTH_trsnscrt_rep_DNA-bd_dom

IPR018122 TF_fork_head_CS

IPR001766 TF_fork_head

Graphical View of Domain Structure for InterPro Entry Q99958

ProtoNet protein and cluster: Q99958

UniProtKB/Swiss-Prot: FOXC2_HUMAN, Q99958

Similarity: Contains 1 fork-head DNA-binding domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: FOXC2_HUMAN, Q99958

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

Genatlas biochemistry entry for FOXC2:

transcription factor-like 14,with a Drosophila homeo forkhead DNA binding domain homolog,homolog to mouse mesenchyme

forkhead 1 (MFH-1)

Gene Ontology (GO): 5/10 molecular function terms (GO ID links to tree view) (see all 10): About this table

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	--
GO:0003677	DNA binding	--	--
GO:0003690	double-stranded DNA binding	IBA	--
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	IBA	--

FOXC2 for ontologies About GeneDecksing

Phenotypes:
15/20 MGI mutant phenotypes (inferred from 5 alleles) (MGI details for Foxc2) (see all 20):

adipose tissue	cardiovascular system	craniofacial	digestive/alimentary	embryogenesis
growth/size	hearing/vestibular/ear	homeostasis/metabolism	immune system	liver/biliary system
mortality/aging	muscle	nervous system	no phenotypic analysis	normal

FOXC2 for phenotypes About GeneDecksing

Animal Models:
Mouse knock-outs for FOXC2: Foxc2^tm1Miu Foxc2^tm1.2Tsku Foxc2^tm1Blh

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for FOXC2

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Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for FOXC2 (see all 7) OriGene shRNA RFP: FOXC2 OriGene siRNA: FOXC2
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In Situ Assay
Products:

Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for FOXC2

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Adipogenesis

Adipogenesis

1.00

Heart Development

Heart Development

1.00

2 BioSystems Pathways for FOXC2

	Adipogenesis
	Heart Development

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for FOXC2

STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

3 Interacting proteins for FOXC2 (Q99958³ ENSP00000326371⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
MYC	P01106³, ENSP00000367207⁴	I2D: score=1 STRING: ENSP00000367207
KDM5B	Q9UGL1³, ENSP00000356234⁴	I2D: score=1 STRING: ENSP00000356234
SUMO2	ENSP00000405965⁴	STRING: ENSP00000405965

About this table

Gene Ontology (GO): 5/47 biological process terms (GO ID links to tree view) (see all 47): About this table

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	IBA	--
GO:0001568	blood vessel development	--	--
GO:0001569	patterning of blood vessels	IBA	--

FOXC2 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

FOXC2 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for FOXC2
2 Novoseek chemical compound relationships for FOXC2 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
glucose	4.06	2	15298355 (1), 12716768 (1)
lipid	0	1	16786163 (1)

Search CenterWatch for drugs/clinical trials and news about FOXC2

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for FOXC2 gene:

NM_005251.2

Unigene Cluster for FOXC2:

Forkhead box C2 (MFH-1, mesenchyme forkhead 1)

Hs.740701 [show with all ESTs]

Unigene Representative Sequence: NM_005251

1 Ensembl transcript including schematic representation, and UCSC links where relevant:

ENST00000320354(uc002fjq.3)

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		hsa-miR-1184 hsa-miR-593
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Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FOXC2

Additional cDNA sequence:

BC113437.1 BC113439.1

3 DOTS entries:

DT.437963 DT.40299149 DT.95326906

7 AceView cDNA sequences:

AU118037 AA373083 NM_005251 BM728520 AU119542 CD172158 AA373084

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

FOXC2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGCGTCCCGC

About this image

FOXC2 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

10/67 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 67)

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Adipose

Cervical Brown Adipose Depot

Cervical Brown Adipocyte Cells

Selective marker (cell-identifying gene)

Adipose

Cervical Brown Adipose Depot

Cervical Committed Brown Preadipocytes

Adipose

Lumbar Brown Adipose Depot

Lumbar Brown Adipocyte Cells

Adipose

Lumbar Brown Adipose Depot

Lumbar Committed Brown Preadipocytes

Adipose

Sacral Brown Adipose Depot

Sacral Brown Adipocyte Cells

Adipose

Sacral Brown Adipose Depot

Sacral Committed Brown Preadipocytes

Adipose

Thoracic Brown Adipose Depot

Thoracic Brown Adipocyte Cells

Adipose

Thoracic Brown Adipose Depot

Thoracic Committed Brown Preadipocytes

Adipose

Brain

Anterior Meninges

Meningeal Progenitor Cells

Meninges

Kidney

Comma-shaped Body

Comma-shaped Body Cells

Kidney

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

PureStem™ progenitor U31 (Embryonic Progenitor Cell)

See FOXC2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for FOXC2

SOURCE GeneReport for Unigene cluster: Hs.740701

SABiosciences Expression via Pathway-Focused PCR Arrays including FOXC2:

Cancer PathwayFinder in human mouse rat

Epithelial to Mesenchymal Transition (EMT) in human mouse rat

Diabetes in human mouse rat

Adipogenesis in human mouse rat

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In Situ
Assay Products:

Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for FOXC2

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for FOXC2 gene from 4/17 species (see all 17) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	FOXC2¹	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	77.53(n) 75.67(a)		396039 NM_205138.1 NP_990469.1
lizard (Anolis carolinensis)	Reptilia	FOXC2⁶	--	59(a)	1 ↔ 1	AAWZ02037033(11383-12843)
African clawed frog (Xenopus laevis)	Amphibia	Xl.508²	Xenopus laevis mRNA for XFD-4' protein (fd-4' gene)	79.89(n)		AJ249225.1
fruit fly (Drosophila melanogaster)	Insecta	fd64A³	embryonic morphogenesis transcription factor	65(a) (best of 3)		64A4 --

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for FOXC2 gene

FOXF1² FOXA2² FOXD4L1² FOXF2² FOXB1² FOXI2² FOXE3² FOXC1²

FOXD4L2² FOXQ1² FOXD4L3² FOXA3² FOXD1² FOXD3² FOXD4L5² FOXD4L4²

FOXE1² FOXL1² FOXA1² FOXB2² FOXI1² FOXD4L6² FOXS1² FOXD2²

FOXL2² FOXD4²

9 SIMAP similar genes for FOXC2 using alignment to 7 protein entries: FOXC2_HUMAN (see all proteins):

FOXJ3 FOXN3 FOXC1 FOXK2 FOXL2 FOXD4L1

FOXL1 FOXS1 FOXA3

FOXC2 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 16 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs104894516^1,2	C	pathogenic	86601238(+)	`ATCTAC/GCAGTT`	2	Y *	stg¹		0	--	--	--	--
rs74033724^1,2	C	--	86598898(+)	`CCGATG/AAACAG`	1	--	us2k¹		2		WA	120
rs181832476^1,2		--	86599047(+)	`GGGAAA/GAGGGG`	1	--	us2k¹		0	--	--	--	--
rs78869779^1,2	C,F	--	86599099(+)	`CAAATAAAC/- AAACT`	1	--	us2k¹		3		NS	110
rs145032056^1,2		--	86599181(+)	`AATAAC/TATCAT`	1	--	us2k¹		0	--	--	--	--
rs117664438^1,2	F	--	86599240(+)	`CCACGG/CAGCGC`	1	--	us2k¹		1		NA	120
rs77479010^1,2	C	--	86599270(+)	`CCACCC/TAACAA`	1	--	us2k¹		3		NS	110
rs147605656^1,2	C	--	86599274(+)	`AAAAC-/AAAAAA`	1	--	us2k¹		0	--	--	--	--
rs4843162^1,2	C,F,A	--	86599404(+)	`GGGAAA/GCGTCC`	1	--	us2k¹		8		NS WA CSA NA EA	474
rs4843396^1,2	C,F,A	--	86599415(+)	`ACGCTT/CGGTGC`	1	--	us2k¹		8		NS WA CSA NA EA	474

HapMap Linkage Disequilibrium report for FOXC2 (86600857 - 86602539 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for FOXC2: --
Human Gene Mutation Database (HGMD): FOXC2

SABiosciences Cancer Mutation PCR Assays

1 SABiosciences qBiomarker Copy Number PCR Array containing FOXC2:

Birth Defects

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing FOXC2

DNA2.0 Custom Variant and Variant Library Synthesis for FOXC2

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

FOXC2 for disorders           About GeneDecksing

OMIM gene information: 602402
OMIM disorders: 153400
UniProtKB/Swiss-Prot: FOXC2_HUMAN, Q99958

Defects in FOXC2 are the cause of lymphedema hereditary type 2 (LMPH2) [MIM:153200]; also known as Meige

lymphedema. Hereditary lymphedema is 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

Defects in FOXC2 are a cause of lymphedema-yellow nails (LYYN) [MIM:153300]. LYYN is 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

Defects in FOXC2 are a cause of lymphedema-distichiasis (LYD) [MIM:153400]. LYD is 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)

20/28 diseases for FOXC2 (see all 28): About MalaCards

lymphedema-distichiasis syndrome klippel-trenaunay syndrome lymphedema-distichiasis syndrome with renal disease and diabetes mellitus hypoplastic left heart syndrome

lymphedema alveolar capillary dysplasia yellow nail syndrome cleft palate

arachnoid cysts venous insufficiency arachnoiditis hereditary lymphedema

diabetes mellitus polycystic ovary syndrome insulin resistance exotropia

hypertriglyceridemia gestational diabetes glaucoma hypotrichosis

3 diseases from the University of Copenhagen DISEASES database for FOXC2:

Lymphedema Meige syndrome Klippel-Trenaunay syndrome

10/17 Novoseek disease relationships for FOXC2 gene (see all 17) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
lymphedema-distichiasis syndrome	98.7	16	20218083 (2), 11371511 (2), 12719382 (1), 17366583 (1) (see all 13)
distichiasis	97.2	15	14566319 (2), 16081467 (2), 17372167 (2), 18197197 (2) (see all 10)
lymphedema primary	92.4	5	19760751 (2), 18986489 (1), 18564920 (1), 17372167 (1)
congenital lymphedema	90.4	4	16081467 (2), 19093784 (1), 18519967 (1)
lymphedema	87.6	22	11371511 (3), 17372167 (3), 18197197 (3), 12485195 (2) (see all 12)
klippel-trenaunay syndrome	56.1	1	16379592 (1)
cleft palate	45.2	1	12485195 (1)
vascular anomaly	40.8	1	15905966 (1)
congenital malformation	36	1	12543715 (1)
hypertriglyceridemia	33.1	3	11551504 (2), 12716768 (1)

GeneTests: FOXC2

Lymphedema-Distichiasis Syndrome

Genetic Association Database (GAD): FOXC2
Human Genome Epidemiology (HuGE) Navigator: FOXC2 (23 documents)

Export disorders for FOXC2 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for FOXC2 gene, integrated from 9 sources (see all 118):
(articles sorted by number of sources associating them with FOXC2)

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Isolation of the mouse (MFH-1) and human (FKHL 14) mesenchyme fork head-1 genes reveals conservation of their gene and protein structures. (PubMed id 9169153)^{1, 2, 3, 9} Miura N.... Sugiyama T. (1997)
FOXC2 mRNA Expression and a 5' untranslated region polymorphism of the gene are associated with insulin resistance. (PubMed id 12453913)^{1, 4, 9} Ridderstrale M....Groop L. (2002)
Truncating mutations in FOXC2 cause multiple lymphedema syndromes. (PubMed id 11371511)^{1, 2, 9} Finegold D.N.... Ferrell R.E. (2001)
Clustered arrangement of winged helix genes fkh-6 and MFH-1: possible implications for mesoderm development. (PubMed id 8674414)^{1, 3, 9} Kaestner K.H....Schutz G. (1996)
Role of the FOXC2 -512C>T polymorphism in type 2 diabetes: possible association with the dysmetabolic syndrome. (PubMed id 15597109)^{1, 4, 9} Carlsson E....Ridderstrale M. (2005)
Genetic variation in the human winged helix/forkhead transcription factor gene FOXC2 in Pima Indians. (PubMed id 12716768)^{1, 4, 9} Kovacs P....Baier L.J. (2003)
The FOXC2 C-512T polymorphism is associated with obesity and dyslipidemia. (PubMed id 15601967)^{1, 4, 9} Carlsson E....Ridderstrale M. (2004)
Analysis of lymphoedema-distichiasis families for FOXC2 mutations reveals small insertions and deletions throughout the gene. (PubMed id 11499682)^{1, 2, 9} Bell R....Jeffery S. (2001)
Genetic determinants of insulin action in polycystic ovary syndrome. (PubMed id 15926113)^{1, 4, 9} Haap M....Fritsche A. (2005)
The FOXC2 -512C>T variant is associated with hypertriglyceridaemia and increased serum C-peptide in Danish Caucasian glucose-tolerant subjects. (PubMed id 14530861)^{1, 4, 9} Yanagisawa K....Hansen T. (2003)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 2303	HGNC: 3801	AceView: FOXC2	Ensembl:ENSG00000176692	euGenes: HUgn2303
ECgene: FOXC2	H-InvDB: FOXC2

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for FOXC2	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FOXC2
NIEHS-SNPs	http://egp.gs.washington.edu/data/foxc2/

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forkhead box C2 (MFH-1, mesenchyme forkhead 1)

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