CleftGeneDB-Search

Gene: Foxc2

Basic information

Tag	Content
Uniprot ID	Q61850; P97948; Q63869; Q8C694;
Entrez ID	14234
Genbank protein ID	CAA69399.1; BAC36298.1; CAA52192.1; CAA63244.1; AAB27463.1;
Genbank nucleotide ID	NM_013519.2
Ensembl protein ID	ENSMUSP00000055290
Ensembl nucleotide ID	ENSMUSG00000046714
Gene name	Forkhead box protein C2
Gene symbol	Foxc2
Organism	Mus musculus
NCBI taxa ID	10090
Cleft type	CPO
Developmental stage	E11.5, E12.5
Data sources	Manually collected
Reference	9106663
Functional description	Transcriptional activator. Might be involved in the formation of special mesenchymal tissues.
Sequence	MQARYSVSDP NALGVVPYLS EQNYYRAAGS YGGMASPMGV YSGHPEQYGA GMGRSYAPYH 60 HQPAAPKDLV KPPYSYIALI TMAIQNAPEK KITLNGIYQF IMDRFPFYRE NKQGWQNSIR 120 HNLSLNECFV KVPRDDKKPG KGSYWTLDPD SYNMFENGSF LRRRRRFKKK DVPKDKEERA 180 HLKEPPSTTA KGAPTGTPVA DGPKEAEKKV VVKSEAASPA LPVITKVETL SPEGALQASP 240 RSASSTPAGS PDGSLPEHHA AAPNGLPGFS VETIMTLRTS PPGGDLSPAA ARAGLVVPPL 300 ALPYAAAPPA AYTQPCAQGL EAAGSAGYQC SMRAMSLYTG AERPAHVCVP PALDEALSDH 360 PSGPGSPLGA LNLAAGQEGA LGASGHHHQH HGHLHPQAPP PAPQPPPAPQ PATQATSWYL 420 NHGGDLSHLP GHTFATQQQT FPNVREMFNS HRLGLDNSSL GESQVSNASC QLPYRATPSL 480 YRHAAPYSYD CTKY 494

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression during embryonic days (E11.5~E18.5) ~ adult days (Ps) in the lip and palate tissues. (X-axis: days, Y-axis: tissues)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Developmental stage	Species	Evidence	Details
1:1 ortholog	FOXC2	102153219	E2QSH3			Canis lupus familiaris	Prediction	More>>
1:1 ortholog	FOXC2		A0A452G0B1			Capra hircus	Prediction	More>>
1:1 ortholog	FOXC2	2303	Q99958			Homo sapiens	Prediction	More>>
1:1 ortholog	Foxc2	14234	Q61850	CPO	E11.5, E12.5	Mus musculus	Publication	More>>
1:1 ortholog	FOXC2	468058	H2RA05			Pan troglodytes	Prediction	More>>
1:1 ortholog	FOXC2		A0A287AFQ6			Sus scrofa	Prediction	More>>
1:1 ortholog	Foxc2	171356	Q63246			Rattus norvegicus	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs251513804	p.His181Gln	missense variant	-	NC_000074.6:g.121117157C>G	UniProt
rs223230516	p.Ser187Pro	missense variant	-	NC_000074.6:g.121117173T>C	UniProt
rs225930210	p.Ser244Ala	missense variant	-	NC_000074.6:g.121117344T>G	UniProt
rs217864871	p.Thr313Ala	missense variant	-	NC_000074.6:g.121117551A>G	UniProt
rs240094305	p.Ala341Thr	missense variant	-	NC_000074.6:g.121117635G>A	UniProt

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0000977	RNA polymerase II regulatory region sequence-specific DNA binding	ISO
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISO
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IGI
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	ISO
GO:0003677	DNA binding	ISO
GO:0003677	DNA binding	IDA
GO:0003700	DNA-binding transcription factor activity	ISO
GO:0003700	DNA-binding transcription factor activity	IMP
GO:0003700	DNA-binding transcription factor activity	IDA
GO:0003700	DNA-binding transcription factor activity	ISS
GO:0031490	chromatin DNA binding	ISO
GO:0031490	chromatin DNA binding	ISS
GO:0042802	identical protein binding	ISO
GO:0043565	sequence-specific DNA binding	ISO
GO:0043565	sequence-specific DNA binding	ISS
GO:0044212	transcription regulatory region DNA binding	IDA
GO:1990841	promoter-specific chromatin binding	IDA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA
GO:0001501	skeletal system development	IGI
GO:0001501	skeletal system development	IMP
GO:0001503	ossification	IMP
GO:0001568	blood vessel development	IGI
GO:0001569	branching involved in blood vessel morphogenesis	IGI
GO:0001656	metanephros development	IMP
GO:0001657	ureteric bud development	IMP
GO:0001756	somitogenesis	IGI
GO:0001822	kidney development	IMP
GO:0001945	lymph vessel development	IGI
GO:0001946	lymphangiogenesis	ISO
GO:0001946	lymphangiogenesis	ISS
GO:0001974	blood vessel remodeling	IGI
GO:0003007	heart morphogenesis	IGI
GO:0006357	regulation of transcription by RNA polymerase II	IBA
GO:0007219	Notch signaling pathway	IGI
GO:0007507	heart development	ISO
GO:0007507	heart development	IMP
GO:0007507	heart development	IGI
GO:0008283	cell population proliferation	IMP
GO:0008286	insulin receptor signaling pathway	ISO
GO:0008286	insulin receptor signaling pathway	ISS
GO:0009653	anatomical structure morphogenesis	IBA
GO:0009725	response to hormone	ISO
GO:0009725	response to hormone	ISS
GO:0010595	positive regulation of endothelial cell migration	IDA
GO:0014032	neural crest cell development	IGI
GO:0030154	cell differentiation	IBA
GO:0030199	collagen fibril organization	IMP
GO:0033625	positive regulation of integrin activation	IC
GO:0033630	positive regulation of cell adhesion mediated by integrin	IDA
GO:0035050	embryonic heart tube development	IGI
GO:0035470	positive regulation of vascular wound healing	IDA
GO:0043010	camera-type eye development	IMP
GO:0045893	positive regulation of transcription, DNA-templated	ISO
GO:0045893	positive regulation of transcription, DNA-templated	IDA
GO:0045893	positive regulation of transcription, DNA-templated	ISS
GO:0045944	positive regulation of transcription by RNA polymerase II	ISO
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP
GO:0046620	regulation of organ growth	IGI
GO:0048010	vascular endothelial growth factor receptor signaling pathway	IGI
GO:0048341	paraxial mesoderm formation	IGI
GO:0048343	paraxial mesodermal cell fate commitment	IMP
GO:0048701	embryonic cranial skeleton morphogenesis	IMP
GO:0048703	embryonic viscerocranium morphogenesis	IMP
GO:0048704	embryonic skeletal system morphogenesis	IMP
GO:0048844	artery morphogenesis	IMP
GO:0055010	ventricular cardiac muscle tissue morphogenesis	IGI
GO:0060038	cardiac muscle cell proliferation	IGI
GO:0072011	glomerular endothelium development	IMP
GO:0072112	glomerular visceral epithelial cell differentiation	IMP
GO:0072144	glomerular mesangial cell development	IMP
GO:0090050	positive regulation of cell migration involved in sprouting angiogenesis	IDA
GO:0097746	regulation of blood vessel diameter	IGI
GO:0120163	negative regulation of cold-induced thermogenesis	ISO
GO:0120163	negative regulation of cold-induced thermogenesis	ISS
GO:1902257	negative regulation of apoptotic process involved in outflow tract morphogenesis	IGI

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005634	nucleus	ISO
GO:0005634	nucleus	IBA
GO:0005634	nucleus	IC
GO:0005654	nucleoplasm	ISO
GO:0016604	nuclear body	ISO

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0010	Activator
KW-0217	Developmental protein
KW-0238	DNA-binding
KW-1017	Isopeptide bond
KW-0488	Methylation
KW-0539	Nucleus
KW-0597	Phosphoprotein
KW-1185	Reference proteome
KW-0804	Transcription
KW-0805	Transcription regulation
KW-0832	Ubl conjugation

Interpro

InterPro ID	InterPro Term
IPR001766	Fork_head_dom
IPR018122	TF_fork_head_CS_1
IPR030456	TF_fork_head_CS_2
IPR036388	WH-like_DNA-bd_sf
IPR036390	WH_DNA-bd_sf

PROSITE

PROSITE ID	PROSITE Term
PS00657	FORK_HEAD_1
PS00658	FORK_HEAD_2
PS50039	FORK_HEAD_3

Pfam

Pfam ID	Pfam Term
PF00250	Forkhead

Gene: Foxc2

Basic information

Gene expression information

Gene expression during embryonic days (E11.5~E18.5) ~ adult days (Ps) in the lip and palate tissues. (X-axis: days, Y-axis: tissues)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Other genetic variants/mutations

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-miRNA interaction