FOXC2 - forkhead box C2 Gene

Also Known as LD; MFH1; MFH-1; FKHL14

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2303

About FOXC2

Cytogenetic location: 16q24.1 Genomic coordinates (GRCh38): 16:86,566,829-86,569,728 (from NCBI)

This gene has 1 transcript (splice variant), 110 orthologues, 42 paralogues and is associated with 3 phenotypes.

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]

FOXC2 Products (1)

mRNA	Protein	Name
NM_005251.3	NP_005242.1	forkhead box protein C2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables DNA-binding transcription activator activity	IDA IDA: Inferred from direct assay	9169153	GOA
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	20956529	GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	20956529	GOA
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	20956529	GOA
enables chromatin DNA binding	IDA IDA: Inferred from direct assay	16456100	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	25609649	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA
enables sequence-specific DNA binding	IDA IDA: Inferred from direct assay	16081467	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in heart development	IMP IMP: Inferred from mutant phenotype	21457232	GOA
involved in insulin receptor signaling pathway	IDA IDA: Inferred from direct assay	16456100	GOA
involved in lymphangiogenesis	IMP IMP: Inferred from mutant phenotype	12114478	GOA
involved in negative regulation of cold-induced thermogenesis	IMP IMP: Inferred from mutant phenotype	11551504	GOA
involved in positive regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	9169153	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	20956529	GOA
involved in response to hormone	IDA IDA: Inferred from direct assay	16456100	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in nucleus	IDA IDA: Inferred from direct assay	11562355	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

FOXC2 Protein Structure

Forkhead

0
100
200
300
400
501 a.a.

Protein Preferred Names	Protein Names
forkhead box protein C2	MFH-1,mesenchyme forkhead 1

FOXC2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	FOXC2	Q99958	GOLGA2	Homo sapiens	Q08379	Y2H Array	32296183
Intra	FOXC2	Q99958	TRIM27	Homo sapiens	P14373	Validated Y2H	25416956
Intra	FOXC2	Q99958	PPP2R2A	Homo sapiens	P63151	Anti Bait CoIP	23878394
Intra	FOXC2	Q99958	RBPMS	Homo sapiens	Q93062	Y2H Prey Pooling	25416956
Intra	FOXC2	Q99958	TRIM27	Homo sapiens	P14373	Y2H Array	25416956
Intra	FOXC2	Q99958	METTL27	Homo sapiens	Q8N6F8	Y2H Array	32296183
Intra	FOXC2	Q99958	KRTAP3-3	Homo sapiens	Q9BYR6	Validated Y2H	32296183
Intra	FOXC2	Q99958	GOLGA2	Homo sapiens	Q08379	Y2H Prey Pooling	32296183
Intra	FOXC2	Q99958	TAX1BP1	Homo sapiens	Q86VP1	Y2H Array	25416956
Intra	FOXC2	Q99958	METTL27	Homo sapiens	Q8N6F8	Y2H Prey Pooling	32296183
Intra	FOXC2	Q99958	KRTAP3-3	Homo sapiens	Q9BYR6	Y2H Prey Pooling	32296183
Intra	FOXC2	Q99958	KRTAP3-3	Homo sapiens	Q9BYR6	Y2H Array	32296183
Intra	FOXC2	Q99958	FOXC2	Homo sapiens	Q99958	TAP	25609649

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Lymphedema-Distichiasis Syndrome	Lymphedema With Distichiasis Lymphedema-Distichiasis Syndrome With Renal Disease And Diabetes Mellitus LPHDST Distichiasis-Lymphedema Syndrome Lymphedema Distichiasis Syndrome Hereditary Lymphedema-Distichiasis Syndrome Lymphedema Distichiasis
Distichiasis	Eyelashes, Two Rows Of Isolated Distichiasis
Primary Lymphedema	Lymphedema Primary
Congenital Lymphedema	Lymphedema, Congenital Milroy Disease
Hereditary Lymphedema I	Lymphedema Hereditary Lymphedema Type I Congenital Primary Lymphedema Lmph1 Milroy Disease Nonne-Milroy Lymphedema Pcl Lymphedema Hereditary Type 1
Varicose Veins	Varices Varix Venous Ectasia Venous Varices Varicosity
Hereditary Lymphedema Ii	Meige Syndrome Meige Disease Meige Lymphedema Hereditary Lymphedema Type Ii Lymphedema Hereditary Type 2 Lymphedema Praecox Lymphedema, Hereditary, Ii Blepharospasm-Oromandibular Dystonia Syndrome Meige Dystonia Meige'S Syndrome Late-Onset Lymphedema Lmph2 Lymphedema Preacox Lymphedema, Late-Onset Blepharospasm - Oromandibular Dystonia Blepharospasm-Oromandibular Dystonia Brueghel Syndrome Idiopathic Blepharospasm-Oromandibular Dystonia Syndrome Oral Facial Dystonia Segmental Cranial Dystonia Meigs Syndrome
Hydrops Fetalis, Nonimmune	Hydrops Fetalis Non-Immune Hydrops Fetalis NIHF Familial Non-Immune Hydrops Fetalis Hydrops Fetalis Nonimmune Idiopathic Hydrops Fetalis Hb Bart'S Hydrops Fetalis Alpha-Thalassemia Hydrops Fetalis Alpha-Thalassemia Major Hemoglobin Bart'S Hydrops Fetalis Homozygous Alpha0-Thalassemia Fetal Anasarca Fetal Hydrops Generalized Fetal Edema Hf Non-Immune Hf Non-Immune Fetal Edema Non-Immune Fetal Hydrops Hydrops Fetalis, Non-Immune Hemoglobin Bart'S Hydrops Syndrome
Ptosis	Blepharoptosis Drooping Eyelid Droopy Eyelid Ptosis Of Eyelid Paralysis Of Levator Palpebrae Superioris
Hypoplastic Left Heart Syndrome	Hlhs Heart, Hypoplastic Left, Syndrome Hypoplasia Of The Left Heart Left Heart Hypoplasia Syndrome Hlhs - [Hypoplastic Left Heart Syndrome] Hypoplasia Of Aortic Valve, In Hypoplastic Left Heart Syndrome Atresia Of Mitral Valve, In Hypoplastic Left Heart Syndrome Atresia Or Marked Hypoplasia Of Aortic Orifice Or Valve, With Hypoplasia Of Ascending Aorta And Defective Development Of Left Ventricle Atresia Or Marked Hypoplasia, Of Aortic Orifice Or Valve, With Hypoplasia Of Ascending Aorta And Defective Development Of Left Ventricle With Mitral Valve Atresia Aortic Valve Atresia, In Hypoplastic Left Heart Syndrome Ascending Aorta Hypoplasia, In Hypoplastic Left Heart Syndrome
Klippel-Trenaunay-Weber Syndrome	Klippel-Trenaunay Syndrome KTS Ktw Syndrome Angioosteohypertrophy Syndrome Angio-Osteohypertrophy Syndrome Klippel Trenaunay Syndrome Klippel-Trénaunay-Weber Syndrome Haemangiectatic Hypertrophy Weber-Klippel-Trenaunay Congenital Dysplastic Angiopathy Klippel-Trenaunay Disease Weber Klippel Trenaunay
Yellow Nail Syndrome	Yns Lymphedema And Yellow Nails Lymphedema With Yellow Nails Lymphedema-Yellow Nails LYYN Hereditary Lymphedema And Yellow Nails Hereditary Lymphoedema And Yellow Nails
Hereditary Lymphedema	Milroy Disease
Chylothorax, Congenital	Congenital Chylothorax Hydrothorax, Congenital
Congenital Symblepharon
Cleft Palate, Isolated	Cleft Palate Isolated Cleft Palate CPI Cp Palatoschisis Cleft Palate Isolated Uranostaphyloschisis Congenital Fissure Of Palate Cleft Of Secondary Palate
Lymphatic Malformation 5	Meige Syndrome Meige Disease Meige Lymphedema Lymphedema Praecox Lymphedema, Late-Onset Late-Onset Lymphedema LMPH2 Meigs Syndrome LMPHM5 Lymphedema, Hereditary, Ii, Formerly Lmph2, Formerly Hereditary Lymphedema Ii Demons-Meigs Syndrome Hereditary Lymphedema Type Ii Lymphedema, Hereditary, 2 Lymphedema, Hereditary, Ii Meige'S Disease
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	HLTS Hypotrichosis Lymphedema Telangiectasia Syndrome Hypotrichosis-Lymphedema-Telangiectasia-Membranoproliferative Glomerulonephritis Syndrome Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Hypotrichosis
Cystic Lymphangioma	Cystic Hygroma Cavernous Lymphangioma Macrocystic Lymphatic Malformation Cavernous Lymphatic Malformation Macrocystic Lymphangioma Lymphangioma, Cystic
Axenfeld-Rieger Syndrome	Axenfeld Syndrome Rieger Syndrome Rieger Anomaly Axenfeld Anomaly Anomaly, Rieger'S Hagedoom Syndrome Rgs - Rieger Syndrome Rieger'S Anomaly Goniodysgenesis Hypodontia Iridogoniodysgenesis With Somatic Anomalies Ars Axenfeld And Rieger Anomaly Axra Axrs Rieger Eye Malformation Sequence
Chronic Venous Insufficiency
Hennekam Syndrome	Hennekam Lymphangiectasia Lymphedema Syndrome Hennekam Lymphangiectasia-Lymphedema Syndrome Lymphedema-Lymphangiectasia-Intellectual Disability Syndrome Lymphedem-Lymphangiectasia-Intellectual Disability Syndrome Intestinal Lymphagiectasia Lymphedema Intellectual Deficit Syndrome Lymphangiectasies And Lymphedema Hennekam Type Generalized Lymphatic Dysplasia Intestinal Lymphagiectasia-Lymphedema-Mental Retardation Syndrome
Colorectal Cancer	Colon Cancer Colorectal Carcinoma Colon Carcinoma Colorectal Cancer, Susceptibility To Carcinoma Of Colon CRC Colorectal Cancer With Chromosomal Instability, Somatic Colon Cancer, Somatic Colon Cancer, Susceptibility To Colonic Neoplasms Colorectal Neoplasms Colorectal Cancer, Somatic Colon Cancer, Advanced, Somatic Colonic Carcinoma Colorectal Carcinomas Colon Cancers Colorectal Cancers Cancer, Colorectal, Somatic Cancer, Colon Cancer, Colorectal, Susceptibility To Colorectal Neoplasm Colonic Neoplasm Malignant Tumor Of Colon
Prostate Signet Ring Cell Adenocarcinoma	Prostate Signet Ring Cell Carcinoma Signet Ring Cell Carcinoma Of Prostate Acinar Prostate Adenocarcinoma, Signet Ring Variant
Type 2 Diabetes Mellitus	Insulin Resistance NIDDM Type 2 Diabetes Diabetes Mellitus, Non-Insulin-Dependent T2D Noninsulin-Dependent Diabetes Mellitus Diabetes Mellitus, Type Ii Maturity-Onset Diabetes Insulin Resistance, Severe, Digenic Diabetes Mellitus, Type 2 Diabetes Mellitus, Noninsulin-Dependent Diabetes Mellitus, Noninsulin-Dependent, Association With Diabetes Mellitus, Noninsulin-Dependent, Late Onset Hypertension, Insulin Resistance-Related, Susceptibility To Insulin Resistance, Susceptibility To Non-Insulin-Dependent Diabetes Mellitus Type Ii Diabetes Mellitus Adult-Onset Diabetes Mellitus Maturity-Onset Diabetes Mellitus Diabetes Mellitus Type 2 Type Ii Diabetes Type 2 Diabetes Mellitus, Susceptibility To Diabetes, Type 2 Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To Diabetes Mellitus, Type 2, Susceptibility To Diabetes Mellitus, Noninsulin-Dependent, 2 Diabetes Mellitus, Type Ii, Susceptibility To Hypertension, Insulin Resistance-Related Adult-Onset Diabetes Aodm Diabetes Mellitus, Adult-Onset Diabetes Mellitus Type Ii Diabetes Mellitus Type 2, Susceptibility To Diabetes, Type Ii, Susceptibility To Diabetes Type 2 Diabetes Mellitus Adult Onset Diabetes Maturity Onset Diabetes Nonketotic Diabetes Non-Insulin Dependent Diabetes Mellitus T2dm - [Type 2 Diabetes Mellitus] Niddm - [Non Insulin Dependent Diabetes Mellitus] Dm2 Dm Type Ii Diabetic Type 2 Insulin Requiring Type 2 Diabetes Noninsulin Dependent Diabetes Non-Insulin-Dependent Diabetes Mellitus Without Complications Diabetes Due To Insulin Secretory Defect Diabetes Mellitus Due To Insulin Secretory Defect Non-Insulin-Dependent Diabetes Of The Young Senile Diabetes Nonketotic Hyperglycaemia Stable Diabetes
Anterior Segment Dysgenesis	Anterior Segment Developmental Anomaly Anterior Segment Mesenchymal Dysgenesis Corneal Opacification And Other Ocular Anomalies Sclerocornea With Other Ocular Anomalies Asmd Asod Anterior Segment Ocular Dysgenesis Foxe3-Related Ocular Disorder Familial Ocular Anterior Segment Mesenchymal Dysgenesis Dysgenesis, Anterior Segment Irido-Corneal Dysgenesis Axenfeld-Rieger Syndrome, Type 3
Multiple Pterygium Syndrome, Escobar Variant	Multiple Pterygium Syndrome Pterygium Escobar Syndrome EVMPS Pterygium Syndrome Autosomal Recessive Multiple Pterygium Syndrome Pterygium Colli Syndrome Pterygium Universale Autosomal Recessive Non-Lethal Multiple Pterygium Syndrome Escobar Variant Multiple Pterygium Syndrome Multiple Pterygium Syndrome, Nonlethal Type Surfer'S Eye Multiple Pterygium Syndrome Escobar Type Multiple Pterygium Syndrome Nonlethal Type Familial Pterygium Syndrome Pterygium Colli Multiple Pterygium Syndrome, Non-Lethal Type Nonlethal Type Multiple Pterygium Syndrome Pterygium Syndrome, Multiple, Escobar Type Pterygium Of Eye Web Eye
Intraocular Pressure Quantitative Trait Locus	Glaucoma IOPQTL Glaucoma, Susceptibility To Postinfectious Glaucoma Glaucoma With Ocular Inflammation Glaucoma Secondary To Eye Inflammation Traumatic Glaucoma Glaucoma With Concussion Of Globe Glaucoma Due To Ocular Trauma Glaucoma Associated With Ocular Trauma Glaucoma Secondary To Drugs
Diabetes Mellitus	Diabetes
Lipid Metabolism Disorder	Dyslipidemia Disorder Of Fatty Acid Metabolism Lipid Metabolism Disorders Fatty Acid Metabolism Disorder Disorder Of Lipid Metabolism Abnormality Of Lipid Metabolism Lipid Metabolism, Inborn Errors Dyslipidemias Disorders Of Lipid Metabolism Congenital Disorders Of Lipid Metabolism Inherited Disorders Of Lipid Metabolism
Body Mass Index Quantitative Trait Locus 11	OBESITY Obesity, Susceptibility To Leanness, Inherited Obesity, Susceptibility To, Bmiq11 Obesity, Mild, Early-Onset Obesity, Association With Obesity, Early-Onset, Susceptibility To Obesity, Severe Obesity, Severe, And Type Ii Diabetes Obesity, Late-Onset Obesity , Susceptibility To BMIQ11 Obesity Bmiq11 Obesity, Early-Onset Simple Obesity Nos Excess Fat Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified Adiposis
Tetralogy Of Fallot	TOF Fallot Tetralogy Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle Tetrad Of Fallot Fallot Tetrad Fallot Disease Fallot Complex Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle Interventricular Septal Defect, In Tetralogy Of Fallot Ventricular Septal Defect With Obstructed Right Ventricular Outflow Tof - [Tetralogy Of Fallot] Pulmonary Atresia With Ventricular Septal Defect [Fallot Type] Pulmonary Atresia, Ventricular Septal Defect And Mapcas Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]
Orofacial Cleft	Cleft, Orofacial

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-149894	MC-1-F2	Inhibitor	99.69%	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	FOXC2	VGNC	VGNC:40948
Bos taurus	FOXC2	VGNC	VGNC:29081
Macaca mulatta	FOXC2	VGNC	VGNC:72694
Mus musculus	FOXC2	MGD	MGI:1347481
Rattus norvegicus	FOXC2	RGD	RGD:621703
Others	FOXC2	NCBI