• Gene id: 2303

Gene Summary

• Gene Symbol: FOXC2   Gene   UCSC   Ensembl
• Aliases: FKHL14, LD, MFH-1, MFH1
• Gene name: forkhead box C2
• Alternate names: forkhead box protein C2, 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,
• Gene location: 16q24.1 (86566828: 86569727)     Exons: 1     NC_000016.10
• Gene summary(Entrez): 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
• OMIM: 0

Protein Summary

• Protein general information: Q99958  
  • Name: Forkhead box protein C2 (Forkhead related protein FKHL14) (Mesenchyme fork head protein 1) (MFH 1 protein) (Transcription factor FKH 14)
  • Length: 501  
  • Mass: 53719
• Sequence:

  MQARYSVSDPNALGVVPYLSEQNYYRAAGSYGGMASPMGVYSGHPEQYSAGMGRSYAPYHHHQPAAPKDLVKPPY
  SYIALITMAIQNAPEKKITLNGIYQFIMDRFPFYRENKQGWQNSIRHNLSLNECFVKVPRDDKKPGKGSYWTLDP
  DSYNMFENGSFLRRRRRFKKKDVSKEKEERAHLKEPPPAASKGAPATPHLADAPKEAEKKVVIKSEAASPALPVI
  TKVETLSPESALQGSPRSAASTPAGSPDGSLPEHHAAAPNGLPGFSVENIMTLRTSPPGGELSPGAGRAGLVVPP
  LALPYAAAPPAAYGQPCAQGLEAGAAGGYQCSMRAMSLYTGAERPAHMCVPPALDEALSDHPSGPTSPLSALNLA
  AGQEGALAATGHHHQHHGHHHPQAPPPPPAPQPQPTPQPGAAAAQAASWYLNHSGDLNHLPGHTFAAQQQTFPNV
  REMFNSHRLGIENSTLGESQVSGNASCQLPYRSTPPLYRHAAPYSYDCTKY

• Structural information:
  • Interpro: IPR001766  IPR018122  IPR030456  IPR036388  IPR036390  
  • Prosite: PS00657 PS00658 PS50039
  • CDD: cd00059
  • PDB: 1D5V 6AKO 6AKP 6O3T
  • PDBsum: 1D5V 6AKO 6AKP 6O3T
  • STRING: ENSP00000326371
• Other Databases: GeneCards:  FOXC2  Malacards:  FOXC2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0009653	anatomical structure morphogenesis	IBA	biological process
GO:0030154	cell differentiation	IBA	biological process
GO:0007507	heart development	IMP	biological process
GO:1990841	promoter-specific chromatin binding	ISS	molecular function
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1990841	promoter-specific chromatin binding	IEA	molecular function
GO:1902257	negative regulation of apoptotic process involved in outflow tract morphogenesis	IEA	biological process
GO:0097746	regulation of blood vessel diameter	IEA	biological process
GO:0090050	positive regulation of cell migration involved in sprouting angiogenesis	IEA	biological process
GO:0072011	glomerular endothelium development	IEA	biological process
GO:0055010	ventricular cardiac muscle tissue morphogenesis	IEA	biological process
GO:0048703	embryonic viscerocranium morphogenesis	IEA	biological process
GO:0048701	embryonic cranial skeleton morphogenesis	IEA	biological process
GO:0048343	paraxial mesodermal cell fate commitment	IEA	biological process
GO:0048341	paraxial mesoderm formation	IEA	biological process
GO:0048010	vascular endothelial growth factor receptor signaling pathway	IEA	biological process
GO:0046620	regulation of organ growth	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0043010	camera-type eye development	IEA	biological process
GO:0035470	positive regulation of vascular wound healing	IEA	biological process
GO:0035050	embryonic heart tube development	IEA	biological process
GO:0033630	positive regulation of cell adhesion mediated by integrin	IEA	biological process
GO:0014032	neural crest cell development	IEA	biological process
GO:0010595	positive regulation of endothelial cell migration	IEA	biological process
GO:0007219	Notch signaling pathway	IEA	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0001974	blood vessel remodeling	IEA	biological process
GO:0001822	kidney development	IEA	biological process
GO:0001657	ureteric bud development	IEA	biological process
GO:0001656	metanephros development	IEA	biological process
GO:0001503	ossification	IEA	biological process
GO:0001501	skeletal system development	IEA	biological process
GO:0072144	glomerular mesangial cell development	IEA	biological process
GO:0072112	glomerular visceral epithelial cell differentiation	IEA	biological process
GO:0060038	cardiac muscle cell proliferation	IEA	biological process
GO:0048844	artery morphogenesis	IEA	biological process
GO:0048704	embryonic skeletal system morphogenesis	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0030199	collagen fibril organization	IEA	biological process
GO:0008283	cell population proliferation	IEA	biological process
GO:0007507	heart development	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0003007	heart morphogenesis	IEA	biological process
GO:0001945	lymph vessel development	IEA	biological process
GO:0001756	somitogenesis	IEA	biological process
GO:0001569	branching involved in blood vessel morphogenesis	IEA	biological process
GO:0001568	blood vessel development	IEA	biological process
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	molecular function
GO:0000976	transcription regulatory region sequence-specific DNA binding	ISS	molecular function
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0010595	positive regulation of endothelial cell migration	ISS	biological process
GO:0033630	positive regulation of cell adhesion mediated by integrin	ISS	biological process
GO:0035470	positive regulation of vascular wound healing	ISS	biological process
GO:0090050	positive regulation of cell migration involved in sprouting angiogenesis	ISS	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	ISS	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	ISS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016604	nuclear body	IDA	cellular component
GO:0120163	negative regulation of cold-induced thermogenesis	IMP	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0009725	response to hormone	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0008286	insulin receptor signaling pathway	IDA	biological process
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0031490	chromatin DNA binding	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0007498	mesoderm development	NAS	biological process
GO:0001946	lymphangiogenesis	IMP	biological process

Diseases

Associated diseases	References
Lymphedema-distichiasis syndrome	KEGG:H02167
Lymphedema-distichiasis syndrome	KEGG:H02167
Ptosis	PMID:11371511
Lymphedema	PMID:11371511
Eyelid disease	PMID:15523639
congestive heart failure	PMID:16952980
type 2 diabetes mellitus	PMID:15523639
obesity	PMID:15601967
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881