Skip to main content

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

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

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

  1. 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.