F-BAR family proteins, emerging regulators for cell membrane dynamic changes—from structure to human diseases

Table 2 Altered expression/mutation of F-BAR proteins in diseases and developmental disorders

Diseases and disorders	Species	F-BAR protein changes	PMID ID#
Developmental and vascular disorders
Embryonic defects	Drosophila, zebrafish	CIP4↑, PACSIN3↓	23424199, 19997509
Dorsoventral defects	Zebrafish	FCHO1↓	22484487
Vascular defects	Zebrafish	NOSTRIN↓	22751148
Postnatal retinal angiogenisis	Mice	NOSTRIN↓	22751148
Neurological disorders
Neurodevelopmental disorders	Mice	srGAP2↓, srGAP3↓	23505444, 22820399
3p syndrome	Human	srGAP3 deletion	19760623
Huntington’s disease	Human	CIP4↑, PACSIN1↓	12604778, 23852340
Epileptic seizures	Mice	PACSIN1↓	21926968
Autoinflammatory diseases
Wiskott-Aldrich syndrome	Human	FBP17↓	19155218
PAPA syndrome	Human	PSTPIP1 mutation	21532836
Chronic multifocal osteomyelitis	Mice	PSTPIP2 mutation	16122996
Cancers
Bladder tumor	Human	FBP17↑	21421245
Breast tumor	Human	CIP4↓	21525036
Leukemia	Human	FBP17↑, FES/FER↑, FCHSD2↑	11438682, 22201778, 22902056
Cardiac hypertrophy	Rat	CIP4↑	23915320
Glucose uptake elevation	Rat, mice	CIP4↓, PACSIN3↑	19509061, 17320047
Renal dysfunction	Human	CIP4↑	22745576

F-BAR protein expression and mutations are observed in various disease and developmental disorders in human, mice, rat, zebrafish, and drosophila in publications cited by PMID#. FCHSD2 was found differentially expressed in a cardiovascular disease system in our recent study. Abbreviations: 3p syndrome, 3p25-p26 deletion syndrome; PAPA syndrome, Pyogenic arthritis, pyoderma gangrenosum, and acne syndrome.

ISSN: 1756-8722