Table 2 A summary of the aberrant expression of FOXF2 and the mechanism of related disease.

From: FOXF2 acts as a crucial molecule in tumours and embryonic development

Expression location

Organ

Species

Related disease

Mechanism

Reference

Head

Face

Cochlea

Human

Sensorineural hearing loss

↓FOXF2

3

Head

Face

Cochlea

Mouse

Inner ear anomalies

↓Foxf2/↓Eya1, ↓Pax3

3

Head

Face

Lip

Mouse

Cleft lip

↓Hh signalling/↓Foxf2

45

Head

Face

Tongue

Mouse

Aglossia

Cilia mutation/↓GLIA/↓Foxf2

46

Head

Face

Eye

Human

Persistent hyperplastic primary vitreous

↑FOXF2

49

Head

Face

Eye

Human

Corectopia and dysplasia of anterior chamber of eyes

↓FOXF2

76

Head

Face

Tooth

Human

Teeth dysplasia

↓FOXF2

74

Head

Face

Palate

Mouse

Cleft palate

↓Foxf2/↓Tgfbr3, ↓integrins αV, ↓integrinsβ1/↓TGF-β signal

80

Head

Cranium

Brain

Mouse

Intracranial haemorrhage

↓Foxf2/↓TGF-β signal/↓Gpr124 mRNA

4

Digestive and respiratory systems

GI tract

Mouse

Excessive growth of intestinal epithelium

↓Foxf2/↑Wnt5a, ↓Bmp4

47

Digestive and respiratory systems

Lung

Human

Broncho-pulmonary dysplasia

↓FOXF2

85

Mesoderm-derived organs

Diaphragm

Human

Congenital diaphragmatic hernia

↓FOXF2

88

Mesoderm-derived organs

Cartilage

Zebrafish

Midline cartilage defects

↓foxf2/↓col2a1, ↓acan

89

Mesoderm-derived organs

Heart

Mouse

Atrioventricular septal defect

↓Foxf2

50

  1. “↑” means upregulation, “↓” means downregulation; Eya1 eyes absent 1, Pax3 paired box 3, Hh hedgehog, GLI glucagonlike immunoreactivity, Tgfbr3 transforming growth factor β receptor 3, Gpr124 G protein-coupled receptor 124, Wnt5a wingless-type MMTV integration site family member 5a, Bmp4 bone morphogenetic protein 4, col2a1 collagen type II α1, acan aggrecan.