FUNDC2
Description
The FUNDC2 (FUN14 domain containing 2) is a protein-coding gene located on chromosome X.
FUN14 domain-containing protein 2 is a protein encoded by the FUNDC2 gene in humans.
FUNDC2 binds directly and specifically to 1,2-Diacyl-sn-glycero-3-phospho-(1'-myo-inositol-3',4',5'-bisphosphate) (PIP3), leading to the recruitment of PIP3 to mitochondria. It may play a role in regulating platelet activation via the AKT/GSK3B/cGMP signaling pathways. FUNDC2 may also act as a transcription factor that regulates SREBP1 (isoform SREBP-1C) expression to modulate triglyceride (TG) homeostasis in hepatocytes.
FUNDC2 is also known as DC44, HCBP6, HCC3, PD03104.
Associated Diseases
- hemophilia A
- platelet-type von Willebrand disease
- beta-thalassemia-X-linked thrombocytopenia syndrome
- thrombocytopenia 7
- platelet-type bleeding disorder 10
- autosomal dominant macrothrombocytopenia
- bleeding disorder, platelet-type, 24
- platelet-type bleeding disorder 15
- autosomal dominant nonsyndromic hearing loss 1
- thrombocytopenia 4
- macrothrombocytopenia, isolated, 2, autosomal dominant
- X-linked sideroblastic anemia 1
- X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
- thrombocytopenia 2
- liver and intrahepatic bile duct neoplasm
