Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID	2303
Gene name	Forkhead box C2
Gene symbol	FOXC2
Synonyms (NCBI Gene)	FKHL14LDMFH-1MFH1
Chromosome	16
Chromosome location	16q24.1
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 mesenchy

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miRTarBase ID	miRNA	Experiments	Reference
MIRT736033	hsa-miR-548c-5p	Luciferase reporter assayImmunoprecipitaion (IP)	31531679

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Transcription factor	Regulation	Reference
BRCA1	Repression	22120723
GATA3	Repression	22120723
GLI2	Unknown	19360354

Show/Hide all (86)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription cis-regulatory region binding	IEA
GO:0000976	Function	Transcription cis-regulatory region binding	ISS
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	20956529
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	20956529
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001216	Function	DNA-binding transcription activator activity	IDA	9169153
GO:0001216	Function	DNA-binding transcription activator activity	IEA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	20956529
GO:0001501	Process	Skeletal system development	IEA
GO:0001503	Process	Ossification	IEA
GO:0001568	Process	Blood vessel development	IEA
GO:0001569	Process	Branching involved in blood vessel morphogenesis	IEA
GO:0001656	Process	Metanephros development	IEA
GO:0001657	Process	Ureteric bud development	IEA
GO:0001756	Process	Somitogenesis	IEA
GO:0001822	Process	Kidney development	IEA
GO:0001945	Process	Lymph vessel development	IEA
GO:0001946	Process	Lymphangiogenesis	IMP	12114478
GO:0001974	Process	Blood vessel remodeling	IEA
GO:0003007	Process	Heart morphogenesis	IEA
GO:0003275	Process	Apoptotic process involved in outflow tract morphogenesis	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005634	Component	Nucleus	IC	9169153
GO:0005634	Component	Nucleus	IDA	11562355, 16081467
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0007219	Process	Notch signaling pathway	IEA
GO:0007498	Process	Mesoderm development	NAS	8674414
GO:0007507	Process	Heart development	IEA
GO:0007507	Process	Heart development	IMP	21457232
GO:0008283	Process	Cell population proliferation	IEA
GO:0008286	Process	Insulin receptor signaling pathway	IDA	16456100
GO:0009653	Process	Anatomical structure morphogenesis	IBA
GO:0009725	Process	Response to hormone	IDA	16456100
GO:0010595	Process	Positive regulation of endothelial cell migration	IEA
GO:0010595	Process	Positive regulation of endothelial cell migration	ISS
GO:0014032	Process	Neural crest cell development	IEA
GO:0016604	Component	Nuclear body	IDA
GO:0030154	Process	Cell differentiation	IBA
GO:0030199	Process	Collagen fibril organization	IEA
GO:0031490	Function	Chromatin DNA binding	IDA	16456100
GO:0033630	Process	Positive regulation of cell adhesion mediated by integrin	IEA
GO:0033630	Process	Positive regulation of cell adhesion mediated by integrin	ISS
GO:0035050	Process	Embryonic heart tube development	IEA
GO:0035470	Process	Positive regulation of vascular wound healing	IEA
GO:0035470	Process	Positive regulation of vascular wound healing	ISS
GO:0042802	Function	Identical protein binding	IPI	25609649
GO:0043010	Process	Camera-type eye development	IEA
GO:0043565	Function	Sequence-specific DNA binding	IDA	16081467
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	9169153, 16081467
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	20956529
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0046620	Process	Regulation of organ growth	IEA
GO:0048010	Process	Vascular endothelial growth factor receptor signaling pathway	IEA
GO:0048341	Process	Paraxial mesoderm formation	IEA
GO:0048343	Process	Paraxial mesodermal cell fate commitment	IEA
GO:0048701	Process	Embryonic cranial skeleton morphogenesis	IEA
GO:0048703	Process	Embryonic viscerocranium morphogenesis	IEA
GO:0048704	Process	Embryonic skeletal system morphogenesis	IEA
GO:0048844	Process	Artery morphogenesis	IEA
GO:0055010	Process	Ventricular cardiac muscle tissue morphogenesis	IEA
GO:0060038	Process	Cardiac muscle cell proliferation	IEA
GO:0072011	Process	Glomerular endothelium development	IEA
GO:0072112	Process	Podocyte differentiation	IEA
GO:0072144	Process	Glomerular mesangial cell development	IEA
GO:0090050	Process	Positive regulation of cell migration involved in sprouting angiogenesis	IEA
GO:0090050	Process	Positive regulation of cell migration involved in sprouting angiogenesis	ISS
GO:0097746	Process	Blood vessel diameter maintenance	IEA
GO:0120163	Process	Negative regulation of cold-induced thermogenesis	IMP	11551504
GO:1902257	Process	Negative regulation of apoptotic process involved in outflow tract morphogenesis	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:1990841	Function	Promoter-specific chromatin binding	IEA
GO:1990841	Function	Promoter-specific chromatin binding	ISS

MIM	HGNC	e!Ensembl
602402	3801	ENSG00000176692

Q99958

Protein name

Forkhead box protein C2 (Forkhead-related protein FKHL14) (Mesenchyme fork head protein 1) (MFH-1 protein) (Transcription factor FKH-14)

Protein function

Transcriptional activator.

PDB

1D5V , 6AKO , 6AKP , 6LBM , 6O3T

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00250	Forkhead	71 → 157	Forkhead domain	Domain

Sequence

MQARYSVSDPNALGVVPYLSEQNYYRAAGSYGGMASPMGVYSGHPEQYSAGMGRSYAPYH
HHQPAAPKDLVKPPYSYIALITMAIQNAPEKKITLNGIYQFIMDRFPFYRENKQGWQNSI
RHNLSLNECFVKVPRDDKKPGKGSYWTLDPDSYNMFENGSFLRRRRRFKKKDVSKEKEER
AHLKEPPPAASKGAPATPHLADAPKEAEKKVVIKSEAASPALPVITKVETLSPESALQGS
PRSAASTPAGSPDGSLPEHHAAAPNGLPGFSVENIMTLRTSPPGGELSPGAGRAGLVVPP
LALPYAAAPPAAYGQPCAQGLEAGAAGGYQCSMRAMSLYTGAERPAHMCVPPALDEALSD
HPSGPTSPLSALNLAAGQEGALAATGHHHQHHGHHHPQAPPPPPAPQPQPTPQPGAAAAQ
AASWYLNHSGDLNHLPGHTFAAQQQTFPNVREMFNSHRLGIENSTLGESQVSGNASCQLP
YRSTPPLYRHAAPYSYDCTKY

Sequence length

501

Interactions

View interactions

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Distichiasis-lymphedema syndrome	Pathogenic; Likely pathogenic	rs1974229664, rs2144018707, rs2144019324, rs2144020781, rs104894516, rs1567571702, rs1567571141, rs1597403198, rs1567571075, rs1567571065, rs1567571345, rs1567571276, rs1567571564, rs1567571360, rs121909106 View all (11 more)	RCV001334377 RCV001783306 RCV006269530 RCV002250893 RCV000007671 RCV000007672 RCV000007673 RCV000007674 RCV000007675 RCV000007676 RCV000007677 RCV000007678 RCV000007679 RCV000007681 RCV000007682 RCV000007683 RCV003335925 RCV004555159 RCV000735835 RCV000735836 RCV000735837 RCV000735838 RCV000853361 RCV001172315 RCV001269288 RCV001289547
FOXC2-related disorder	Likely pathogenic; Pathogenic	rs2507945813, rs2507945700, rs2507945808, rs2507945223	RCV003406070 RCV003416962 RCV003896623 RCV003982659
LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS	Pathogenic	rs1567571636	RCV000007680
Non-immune hydrops fetalis	Likely pathogenic; Pathogenic	rs1223233551, rs1567571564	RCV001376048 RCV005357091

Show/Hide Text Mining Associations (70)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma	Associate	26758745
Alopecia Areata	Associate	20546884
Arachnoid Cysts	Associate	20535019, 26545093
Atherosclerosis	Associate	32271448
Baetz Greenwalt syndrome	Associate	31204705
Breast Neoplasms	Associate	25053741, 25486430, 26210254, 27064522, 29216867
Breast Neoplasms	Stimulate	29562954
Calcinosis Cutis	Associate	31464093
Carcinoma Hepatocellular	Associate	25289898, 29801468, 39344752
Carcinoma Large Cell	Associate	25413006
Carcinoma Non Small Cell Lung	Associate	20460685, 26758745
Carcinoma Ovarian Epithelial	Associate	32222147
Carcinoma Pancreatic Ductal	Stimulate	26733175
Carcinoma Renal Cell	Associate	27031776, 27283491
Carcinoma Small Cell	Associate	25413006
Cardiovascular Abnormalities	Associate	11078474
Cholangiocarcinoma	Associate	23919841
Chronic Disease	Associate	24608096
Cognition Disorders	Associate	35436926
Colorectal Neoplasms	Associate	29202800, 36961205
Colorectal Neoplasms	Stimulate	32513911
Conotruncal cardiac defects	Associate	37406974
Craniofacial Abnormalities	Associate	35436926
Diabetes Gestational	Associate	35532201
Disease	Associate	12114478, 24608096
Dyslipidemias	Associate	15601967
Edema	Associate	16419129, 25252123
Epidural Abscess	Associate	12114478
Esophageal Neoplasms	Associate	32925786
Esophageal Squamous Cell Carcinoma	Associate	32341351, 32925786
Gallbladder Neoplasms	Associate	33336729
Gastroesophageal Reflux	Associate	17372167
Glaucoma 3 Primary Congenital A	Associate	30657791
Glioma	Associate	25605149
Heart Failure	Associate	17372167, 24608096
Hydrops Fetalis	Associate	25252123
Insulin Resistance	Inhibit	14569043
Insulin Resistance	Associate	15198934, 15601967, 35532201
Intellectual Disability	Associate	35436926
Liver Cirrhosis	Stimulate	29801468
Lung Diseases	Associate	25413006
Lung Neoplasms	Associate	30720176
Lymphatic Metastasis	Associate	23919841, 32925786
Lymphedema	Associate	11078474, 17372167, 18564920, 22351697, 23613720, 25252123, 34656527
Lymphedema distichiasis syndrome	Associate	11078474, 11694548, 12114478, 12740761, 15744037, 16419129, 17372167, 20535019, 27346194, 27570485, 33925370, 35227307, 40073585
Mental Retardation Autosomal Recessive 1	Associate	22407726
Microcephaly	Associate	22407726
Mohr Tranebjaerg syndrome	Associate	35392966
Myotonia with Skeletal Abnormalities and Mental Retardation	Associate	31464093
Neoplasm Metastasis	Associate	24641373, 25053741, 26758745, 27283491, 31464093, 32249539
Neoplasm Metastasis	Stimulate	30720176, 32513911
Neoplasms	Associate	23919841, 24641373, 24700685, 25289898, 25573594, 25605149, 26733175, 27562816, 29087350, 29801468, 30720176, 31464093, 32222147, 32513911, 32925786, 37499655 View all (1 more)
Neoplastic Syndromes Hereditary	Associate	27570485
Obesity	Associate	15198934, 15601967, 33193083, 34890032
Osteosarcoma	Associate	29562954, 32249539, 33193083
Ovarian Neoplasms	Associate	27562816, 35392966
Pancreatic Neoplasms	Associate	26733175
Prostatic Neoplasms	Associate	31464093
Prostatic Neoplasms Castration Resistant	Associate	31464093
Squamous Cell Carcinoma of Head and Neck	Associate	24647631, 25573594
Tachycardia Atrioventricular Nodal Reentry	Stimulate	26758745
Tetralogy of Fallot	Associate	11694548, 25093829
Triple Negative Breast Neoplasms	Associate	26210254
Uterine Cervical Neoplasms	Associate	24641373
Uterine Cervicitis	Associate	24641373
Varicose Ulcer	Associate	24608096
Varicose Veins	Associate	12114478, 15744037, 17372167, 26808710
Varicose Veins	Stimulate	24608096, 34212977
Venous Thrombosis	Associate	17372167
Vesico Ureteral Reflux	Associate	22407726

FOXC2 (forkhead box C2)