InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: FOXC2

Summary

InnateDB Protein

IDBP-45468.4

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

FOXC2

Protein Name

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

Synonyms

FKHL14; LD; MFH-1; MFH1;

Species

Homo sapiens

Ensembl Protein

ENSP00000326371

InnateDB Gene

IDBG-45466 (FOXC2)

Protein Structure

UniProt Annotation

Function

Transcriptional activator. Might be involved in the formation of special mesenchymal tissues. {ECO:0000269PubMed:9169153}.

Subcellular Localization

Nucleus {ECO:0000255PROSITE- ProRule:PRU00089, ECO:0000269PubMed:23878394}.

Disease Associations

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:0000269PubMed: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:0000269PubMed:11499682}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.

Experimentally validated
Total	5 [view]
Protein-Protein	4 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0001077	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
GO:0003677	DNA binding
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0003705	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity
GO:0031490	chromatin DNA binding
GO:0043565	sequence-specific DNA binding
GO:0044212	transcription regulatory region DNA binding

Biological Process

GO:0000122	negative regulation of transcription from RNA polymerase II promoter
GO:0001501	skeletal system development
GO:0001503	ossification
GO:0001568	blood vessel development
GO:0001569	patterning of blood vessels
GO:0001656	metanephros development
GO:0001657	ureteric bud development
GO:0001756	somitogenesis
GO:0001822	kidney development
GO:0001945	lymph vessel development
GO:0001946	lymphangiogenesis
GO:0001974	blood vessel remodeling
GO:0003007	heart morphogenesis
GO:0006355	regulation of transcription, DNA-templated
GO:0006366	transcription from RNA polymerase II promoter
GO:0007219	Notch signaling pathway
GO:0007498	mesoderm development
GO:0007507	heart development
GO:0008283	cell proliferation
GO:0008286	insulin receptor signaling pathway
GO:0009725	response to hormone
GO:0010595	positive regulation of endothelial cell migration
GO:0014032	neural crest cell development
GO:0030199	collagen fibril organization
GO:0033630	positive regulation of cell adhesion mediated by integrin
GO:0035050	embryonic heart tube development
GO:0035470	positive regulation of vascular wound healing
GO:0043010	camera-type eye development
GO:0045893	positive regulation of transcription, DNA-templated
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0046620	regulation of organ growth
GO:0048010	vascular endothelial growth factor receptor signaling pathway
GO:0048341	paraxial mesoderm formation
GO:0048343	paraxial mesodermal cell fate commitment
GO:0048701	embryonic cranial skeleton morphogenesis
GO:0048703	embryonic viscerocranium morphogenesis
GO:0048704	embryonic skeletal system morphogenesis
GO:0048844	artery morphogenesis
GO:0050880	regulation of blood vessel size
GO:0055010	ventricular cardiac muscle tissue morphogenesis
GO:0060038	cardiac muscle cell proliferation
GO:0072011	glomerular endothelium development
GO:0072112	glomerular visceral epithelial cell differentiation
GO:0072144	glomerular mesangial cell development
GO:0090050	positive regulation of cell migration involved in sprouting angiogenesis
GO:1902257	negative regulation of apoptotic process involved in outflow tract morphogenesis