FOXC2
entrez
2303
canonical
uniprot
Q99958
canonical
ensembl
ENSG00000176692
resolver
ensp
ENSP00000497759
resolver
enst
ENST00000649859
resolver
genesymbol
FOXC2
resolver
genesymbol_syn
FKHL14
resolver
genesymbol_syn
MFH1
resolver
hgnc
HGNC:3801
resolver
uniprot
C6KMR9
resolver
uniprot
Q14DA6
resolver
uniprot_entry
FOXC2_HUMAN
resolver
uniprot_sec
C6KMR9
resolver
uniprot_sec
Q14DA6
resolver
amino_acid_sequence
MQARYSVSDPNALGVVPYLSEQNYYRAAGSYGGMASPMGVYSGHPEQYSAGMGRSYAPYHHHQPAAPKDLVKPPYSYIALITMAIQNAPEKKITLNGIYQFIMDRFPFYRENKQGWQNSIRHNLSLNECFVKVPRDDKKPGKGSYWTLDPDSYNMFENGSFLRRRRRFKKKDVSKEKEERAHLKEPPPAASKGAPATPHLADAPKEAEKKVVIKSEAASPALPVITKVETLSPESALQGSPRSAASTPAGSPDGSLPEHHAAAPNGLPGFSVENIMTLRTSPPGGELSPGAGRAGLVVPPLALPYAAAPPAAYGQPCAQGLEAGAAGGYQCSMRAMSLYTGAERPAHMCVPPALDEALSDHPSGPTSPLSALNLAAGQEGALAATGHHHQHHGHHHPQAPPPPPAPQPQPTPQPGAAAAQAASWYLNHSGDLNHLPGHTFAAQQQTFPNVREMFNSHRLGIENSTLGESQVSGNASCQLPYRSTPPLYRHAAPYSYDCTKY
uniprot
proteins
disease_involvement
DISEASE: Lymphedema-distichiasis syndrome (LPHDST) [MIM:153400]: An autosomal dominant 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. {ECO:0000269|PubMed:11078474, ECO:0000269|PubMed:11371511, ECO:0000269|PubMed:11499682}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transcriptional activator. {ECO:0000269|PubMed:9169153}.
uniprot
proteins
mass_dalton
53719
uniprot
proteins
post_translational_modification
PTM: Phosphorylation regulates FOXC2 transcriptional activity by promoting its recruitment to chromatin. {ECO:0000269|PubMed:23878394}.
uniprot
proteins
pubmed
10669593
uniprot
proteins
pubmed
11078474
uniprot
proteins
pubmed
11371511
uniprot
proteins
pubmed
11499682
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
18220336
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23878394
uniprot
proteins
pubmed
25218447
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
28179430
uniprot
proteins
pubmed
9169153
uniprot
proteins
sequence_length
501
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00089, ECO:0000269|PubMed:23878394, ECO:0000269|PubMed:28179430}.
uniprot
proteins