FUNDC2

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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