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Protein

Forkhead box protein C2

Gene

FOXC2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Transcriptional activator. Might be involved in the formation of special mesenchymal tissues.1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi71 – 162Fork-headPROSITE-ProRule annotationAdd BLAST92

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionActivator, Developmental protein, DNA-binding
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

SignaLinkiQ99958
SIGNORiQ99958

Names & Taxonomyi

Protein namesi
Recommended name:
Forkhead box protein C2
Alternative name(s):
Forkhead-related protein FKHL14
Mesenchyme fork head protein 1
Short name:
MFH-1 protein
Transcription factor FKH-14
Gene namesi
Name:FOXC2
Synonyms:FKHL14, MFH1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

EuPathDBiHostDB:ENSG00000176692.5
HGNCiHGNC:3801 FOXC2
MIMi602402 gene
neXtProtiNX_Q99958

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Lymphedema-distichiasis (LYD)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:153400
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_018418125S → L in LYD. 1 PublicationCorresponds to variant dbSNP:rs121909106EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi2303
GeneReviewsiFOXC2
MalaCardsiFOXC2
MIMi153400 phenotype
OpenTargetsiENSG00000176692
Orphaneti33001 Lymphedema - distichiasis
PharmGKBiPA28218

Polymorphism and mutation databases

BioMutaiFOXC2
DMDMi3024149

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000918081 – 501Forkhead box protein C2Add BLAST501

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Cross-linki184Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki214Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei215PhosphoserineCombined sources1
Modified residuei219PhosphoserineCombined sources1 Publication1
Modified residuei232PhosphoserineCombined sources1 Publication1
Modified residuei235PhosphoserineCombined sources1
Modified residuei240PhosphoserineCombined sources1 Publication1
Modified residuei247Phosphothreonine1 Publication1
Modified residuei251Phosphoserine1 Publication1
Modified residuei279Omega-N-methylarginineBy similarity1
Modified residuei281Phosphoserine1 Publication1
Modified residuei288PhosphoserineCombined sources1 Publication1
Modified residuei293Omega-N-methylarginineBy similarity1
Modified residuei367Phosphoserine1 Publication1
Modified residuei458Asymmetric dimethylarginineBy similarity1

Post-translational modificationi

Phosphorylation regulates FOXC2 transcriptional activity by promoting its recruitment to chromatin.1 Publication

Keywords - PTMi

Isopeptide bond, Methylation, Phosphoprotein, Ubl conjugation

Proteomic databases

MaxQBiQ99958
PaxDbiQ99958
PeptideAtlasiQ99958
PRIDEiQ99958

PTM databases

iPTMnetiQ99958
PhosphoSitePlusiQ99958

Expressioni

Gene expression databases

BgeeiENSG00000176692
CleanExiHS_FOXC2
GenevisibleiQ99958 HS

Organism-specific databases

HPAiHPA056302

Interactioni

Binary interactionsi

Show more details

GO - Molecular functioni

  • identical protein binding Source: IntAct

Protein-protein interaction databases

BioGridi108592, 35 interactors
IntActiQ99958, 38 interactors
MINTiQ99958
STRINGi9606.ENSP00000326371

Structurei

Secondary structure

1501
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi77 – 86Combined sources10
Beta strandi89 – 93Combined sources5
Helixi95 – 105Combined sources11
Helixi108 – 111Combined sources4
Helixi116 – 126Combined sources11
Beta strandi128 – 132Combined sources5
Beta strandi146 – 148Combined sources3

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1D5VNMR-A70-162[»]
ProteinModelPortaliQ99958
SMRiQ99958
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ99958

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi163 – 167Poly-Arg5
Compositional biasi387 – 396His-rich10
Compositional biasi397 – 414Pro-richAdd BLAST18

Phylogenomic databases

eggNOGiKOG2294 Eukaryota
COG5025 LUCA
GeneTreeiENSGT00760000118904
HOGENOMiHOG000007939
HOVERGENiHBG051640
InParanoidiQ99958
KOiK09396
OMAiMRAMSLY
OrthoDBiEOG091G0HW9
PhylomeDBiQ99958
TreeFamiTF316127

Family and domain databases

CDDicd00059 FH, 1 hit
Gene3Di1.10.10.10, 1 hit
InterProiView protein in InterPro
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
PfamiView protein in Pfam
PF00250 Forkhead, 1 hit
PRINTSiPR00053 FORKHEAD
SMARTiView protein in SMART
SM00339 FH, 1 hit
SUPFAMiSSF46785 SSF46785, 1 hit
PROSITEiView protein in PROSITE
PS00657 FORK_HEAD_1, 1 hit
PS00658 FORK_HEAD_2, 1 hit
PS50039 FORK_HEAD_3, 1 hit

Sequencei

Sequence statusi: Complete.

Q99958-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MQARYSVSDP NALGVVPYLS EQNYYRAAGS YGGMASPMGV YSGHPEQYSA
60 70 80 90 100
GMGRSYAPYH HHQPAAPKDL VKPPYSYIAL ITMAIQNAPE KKITLNGIYQ
110 120 130 140 150
FIMDRFPFYR ENKQGWQNSI RHNLSLNECF VKVPRDDKKP GKGSYWTLDP
160 170 180 190 200
DSYNMFENGS FLRRRRRFKK KDVSKEKEER AHLKEPPPAA SKGAPATPHL
210 220 230 240 250
ADAPKEAEKK VVIKSEAASP ALPVITKVET LSPESALQGS PRSAASTPAG
260 270 280 290 300
SPDGSLPEHH AAAPNGLPGF SVENIMTLRT SPPGGELSPG AGRAGLVVPP
310 320 330 340 350
LALPYAAAPP AAYGQPCAQG LEAGAAGGYQ CSMRAMSLYT GAERPAHMCV
360 370 380 390 400
PPALDEALSD HPSGPTSPLS ALNLAAGQEG ALAATGHHHQ HHGHHHPQAP
410 420 430 440 450
PPPPAPQPQP TPQPGAAAAQ AASWYLNHSG DLNHLPGHTF AAQQQTFPNV
460 470 480 490 500
REMFNSHRLG IENSTLGESQ VSGNASCQLP YRSTPPLYRH AAPYSYDCTK

Y
Length:501
Mass (Da):53,719
Last modified:May 1, 1997 - v1
Checksum:iF66513878EDC3A87
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_018418125S → L in LYD. 1 PublicationCorresponds to variant dbSNP:rs121909106EnsemblClinVar.1
Natural variantiVAR_060950191S → F1 PublicationCorresponds to variant dbSNP:rs78018668Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Y08223 Genomic DNA Translation: CAA69400.1
GQ282998 Genomic DNA Translation: ACS83751.1
BC113437 mRNA Translation: AAI13438.1
BC113439 mRNA Translation: AAI13440.1
CCDSiCCDS10958.1
RefSeqiNP_005242.1, NM_005251.2
UniGeneiHs.436448

Genome annotation databases

EnsembliENST00000320354; ENSP00000326371; ENSG00000176692
GeneIDi2303
KEGGihsa:2303
UCSCiuc002fjq.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiFOXC2_HUMAN
AccessioniPrimary (citable) accession number: Q99958
Secondary accession number(s): C6KMR9, Q14DA6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: May 1, 1997
Last modified: May 23, 2018
This is version 179 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references

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