Search
forkhead box protein C2; forkhead-related protein 14; drosophila forkhead homolog-like 14 (FOXC2, FKHL14)
Function:
- transcriptional activator
- role in formation of special mesenchymal tissues
- key regulator of adipocyte metabolism [2]
- increases sensitivity of beta-adrenergic- cAMP protein kinase A signalling pathway through alteration of adipocyte PKA holoenzyme composition
- in mice, increased FOXC2 levels induced by high fat diet protects against obesity, diet-induced insulin resistance & hypertriglyceridemia
Structure: contains 1 fork-head DNA-binding domain
Compartment: nucleus
Pathology:
- gene mutations found in lymphedema-distichiasis syndrome [1]
- defects in FOXC2 are the cause of hereditary lymphedema 2
- defects in FOXC2 are a cause of lymphedema & ptosis
- defects in FOXC2 are a cause of yellow nail syndrome
- defects in FOXC2 are a cause of lymphedema-distichiasis
Related
FOXC2 gene
General
forkhead family transcription factor
Properties
SIZE: MW = 54 kD
entity length = 501 aa
COMPARTMENT: cell nucleus
MOTIF: fork head domain
NAME: fork head domain
SITE: 71-162
arginine-rich region {163-167}
MOTIF: arginine residue (SEVERAL)
Ser phosphorylation site {S232}
Ser phosphorylation site {S240}
histidine-rich region {387-396}
MOTIF: histidine residue (SEVERAL)
proline-rich region
SITE: 397-421
MOTIF: proline residue (SEVERAL)
proline-rich region
SITE: 400-408
MOTIF: proline residue (SEVERAL)
alanine-rich region {416-422}
MOTIF: alanine residue (SEVERAL)
Database Correlations
OMIM correlations
MORBIDMAP 602402
UniProt Q99958
Entrez Gene 2303
References
- OMIM #153400, 602402
- Cederberg et al. Cell 106:563-73, 2001
- Entrez Gene :accession 2303
- UniProt :accession Q99958
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=FOXC2