Entity Details

Primary name FOXC2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ99958
EntryNameFOXC2_HUMAN
FullNameForkhead box protein C2
TaxID9606
Evidenceevidence at protein level
Length501
SequenceStatuscomplete
DateCreated1998-07-15
DateModified2021-06-02

Ontological Relatives

GenesFOXC2

GO terms

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GOName
GO:0000122 negative regulation of transcription by RNA polymerase II
GO:0000785 chromatin
GO:0000976 transcription cis-regulatory region binding
GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0001216 DNA-binding transcription activator activity
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific
GO:0001503 ossification
GO:0001569 branching involved in blood vessel morphogenesis
GO:0001656 metanephros development
GO:0001657 ureteric bud development
GO:0001756 somitogenesis
GO:0001946 lymphangiogenesis
GO:0001974 blood vessel remodeling
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0006357 regulation of transcription by RNA polymerase II
GO:0007219 Notch signaling pathway
GO:0007498 mesoderm development
GO:0007507 heart development
GO:0008286 insulin receptor signaling pathway
GO:0009653 anatomical structure morphogenesis
GO:0009725 response to hormone
GO:0010595 positive regulation of endothelial cell migration
GO:0014032 neural crest cell development
GO:0016604 nuclear body
GO:0030154 cell differentiation
GO:0030199 collagen fibril organization
GO:0031490 chromatin DNA binding
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:0042802 identical protein binding
GO:0043010 camera-type eye development
GO:0043565 sequence-specific DNA binding
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0046620 regulation of organ growth
GO:0048010 vascular endothelial growth factor receptor signaling pathway
GO:0048343 paraxial mesodermal cell fate commitment
GO:0048703 embryonic viscerocranium morphogenesis
GO:0048844 artery morphogenesis
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:0097746 blood vessel diameter maintenance
GO:0120163 negative regulation of cold-induced thermogenesis
GO:1902257 negative regulation of apoptotic process involved in outflow tract morphogenesis
GO:1990837 sequence-specific double-stranded DNA binding
GO:1990841 promoter-specific chromatin binding

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR001766 Fork head domainDomainDomain
IPR018122 Fork head domain conserved site1SiteConserved site
IPR030456 Fork head domain conserved site 2SiteConserved site
IPR036388 Winged helix-like DNA-binding domain superfamilyFamilyHomologous superfamily
IPR036390 Winged helix DNA-binding domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
153400 OMIMLymphedema-distichiasis syndrome (LPHDST)An autosomal dominant 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. The disease is caused by variants affecting the gene represented in this entry.