CYTH2
Description
The CYTH2 (cytohesin 2) is a protein-coding gene located on chromosome 19.
Cytohesin-2 is a protein encoded by the CYTH2 gene in humans. It belongs to the cytohesin family, characterized by an N-terminal coiled-coil motif, a central Sec7 domain, and a C-terminal pleckstrin homology (PH) domain. The coiled-coil motif mediates homodimerization, the Sec7 domain possesses guanine-nucleotide exchange protein (GEP) activity, and the PH domain interacts with phospholipids and facilitates membrane association. Cytohesin family members are involved in regulating protein sorting and membrane trafficking. CYTH2 exhibits GEP activity in vitro with ARF1, ARF3, and ARF6. It shares 83% homology with CYTH1. Two transcript variants encoding different isoforms have been identified for this gene. CYTH2 interacts with Arrestin beta 2 and Arrestin beta 1.
Cytohesin-2 acts as a guanine-nucleotide exchange factor (GEF), promoting guanine-nucleotide exchange on ARF1, ARF3, and ARF6. It activates ARF factors by replacing GDP with GTP. The cell membrane form, in association with ARL4 proteins, recruits ARF6 to the plasma membrane (PubMed:17398095). Cytohesin-2 is involved in neurite growth (By similarity).
CYTH2 is also known as ARNO, CTS18, CTS18.1, PSCD2, PSCD2L, SEC7L, Sec7p-L, Sec7p-like, cytohesin-2.
Associated Diseases
- X-linked severe congenital neutropenia
- neutropenia, severe congenital, 1, autosomal dominant
- neutropenia, severe congenital, 2, autosomal dominant
- combined immunodeficiency due to moesin deficiency
- nonimmune chronic idiopathic neutropenia of adults
- agammaglobulinemia 7, autosomal recessive
- X-linked sideroblastic anemia 1
- cancer
- Miyoshi myopathy
