FOXC2 forkhead box C2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: FOXC2provided by HGNC
Official Full Name: forkhead box C2provided by HGNC
Primary source: HGNC:HGNC:3801
See related: Ensembl:ENSG00000176692 MIM:602402; AllianceGenome:HGNC:3801
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: LD; MFH1; MFH-1; FKHL14
Summary: 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]
Orthologs: mouse all
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Genomic context

Location:: 16q24.1

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (86566829..86569728)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (92635146..92638044)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (86600435..86603334)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variants in FOXC1 and FOXC2 identified in patients with conotruncal heart defects.
Title: Variants in FOXC1 and FOXC2 identified in patients with conotruncal heart defects.
The role of transcription factor FOXA1/C2/M1/O3/P1/Q1 in breast cancer.
Title: The role of transcription factor FOXA1/C2/M1/O3/P1/Q1 in breast cancer.
Up-regulation of microRNA-183 reduces FOXO1 expression in gastric cancer patients with Helicobacter pylori infection.
Title: Up-regulation of microRNA-183 reduces FOXO1 expression in gastric cancer patients with Helicobacter pylori infection.
FOXC2-AS1/FOXC2 axis mediates matrix stiffness-induced trans-differentiation of hepatic stellate cells into fibrosis-promoting myofibroblasts.
Title: FOXC2-AS1/FOXC2 axis mediates matrix stiffness-induced trans-differentiation of hepatic stellate cells into fibrosis-promoting myofibroblasts.
Defects in vein valve PROX1/FOXC2 antithrombotic pathway in endothelial cells drive the hypercoagulable state induced by trauma and critical illness.
Title: Defects in vein valve PROX1/FOXC2 antithrombotic pathway in endothelial cells drive the hypercoagulable state induced by trauma and critical illness.
The FOXC2 Transcription Factor: A Master Regulator of Chemoresistance in Cancer.
Title: The FOXC2 Transcription Factor: A Master Regulator of Chemoresistance in Cancer.
Genetic landscape of FOXC2 mutations in lymphedema-distichiasis syndrome: Different mechanism of pathogenicity for mutations in different domains.
Title: Genetic landscape of FOXC2 mutations in lymphedema-distichiasis syndrome: Different mechanism of pathogenicity for mutations in different domains.
Forkhead box C2 is associated with insulin resistance in gestational diabetes mellitus.
Title: Forkhead box C2 is associated with insulin resistance in gestational diabetes mellitus.
Digenic Inheritance of a FOXC2 Mutation and Two PIEZO1 Mutations Underlies Congenital Lymphedema in a Multigeneration Family.
Title: Digenic Inheritance of a FOXC2 Mutation and Two PIEZO1 Mutations Underlies Congenital Lymphedema in a Multigeneration Family.
FOXC2-AS1 stabilizes FOXC2 mRNA via association with NSUN2 in gastric cancer cells.
Title: FOXC2-AS1 stabilizes FOXC2 mRNA via association with NSUN2 in gastric cancer cells.

Submit: New GeneRIF Correction See all GeneRIFs (129)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Distichiasis-lymphedema syndrome MedGen: C0265345 OMIM: 153400 GeneReviews: Lymphedema-Distichiasis Syndrome	not available

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2013-11-26) ClinGen Genome Curation Page Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2013-11-26) ClinGen Genome Curation PagePubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:483146

NoName (e-PCR)
- UniSTS:480884

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables chromatin DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables promoter-specific chromatin binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables transcription cis-regulatory region binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in Notch signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in anatomical structure morphogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in apoptotic process involved in outflow tract morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in artery morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in blood vessel diameter maintenance	IEA Inferred from Electronic Annotation more info
involved_in blood vessel remodeling	IEA Inferred from Electronic Annotation more info
involved_in branching involved in blood vessel morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in camera-type eye development	IEA Inferred from Electronic Annotation more info
involved_in cardiac muscle cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in collagen fibril organization	IEA Inferred from Electronic Annotation more info
involved_in embryonic heart tube development	IEA Inferred from Electronic Annotation more info
involved_in embryonic viscerocranium morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in glomerular endothelium development	IEA Inferred from Electronic Annotation more info
involved_in glomerular mesangial cell development	IEA Inferred from Electronic Annotation more info
involved_in heart development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in insulin receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in lymphangiogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mesoderm development	NAS Non-traceable Author Statement more info	PubMed
involved_in metanephros development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of apoptotic process involved in outflow tract morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cold-induced thermogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
involved_in neural crest cell development	IEA Inferred from Electronic Annotation more info
involved_in ossification	IEA Inferred from Electronic Annotation more info
involved_in paraxial mesodermal cell fate commitment	IEA Inferred from Electronic Annotation more info
involved_in podocyte differentiation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cell adhesion mediated by integrin	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of cell migration involved in sprouting angiogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of endothelial cell migration	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of vascular wound healing	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of organ growth	IEA Inferred from Electronic Annotation more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to hormone	IDA Inferred from Direct Assay more info	PubMed
involved_in somitogenesis	IEA Inferred from Electronic Annotation more info
involved_in ureteric bud development	IEA Inferred from Electronic Annotation more info
involved_in vascular endothelial growth factor receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in ventricular cardiac muscle tissue morphogenesis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in chromatin	ISA Inferred from Sequence Alignment more info
located_in nuclear body	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleus	IC Inferred by Curator more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: forkhead box protein C2

Names: MFH-1,mesenchyme forkhead 1; forkhead box C2 (MFH-1, mesenchyme forkhead 1); forkhead, Drosophila, homolog-like 14; forkhead-related protein FKHL14; mesenchyme fork head protein 1; mesenchyme forkhead 1; transcription factor FKH-14

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.