EF-hand domain-containing protein 2 (EFHC2)

EF-hand domain-containing protein 2 (EFHC2) is a calcium-binding protein characterized by three DM10 domains and three EF-hand motifs—structural features involved in intracellular calcium ion binding and possibly ciliary function[1][5][7]. The gene is located on the X chromosome at Xp11.3, escapes X-inactivation, and is widely expressed in the brain and several peripheral tissues[1][4][6]. EFHC2 is primarily found in the cytoplasm and is part of the inner structure of motile cilia, playing a role in ciliary beating and possibly in microtubule stability[5][7]. Functionally, EFHC2 has been proposed to influence neuronal signaling and the development of neural circuits associated with social cognition[3]. Polymorphisms in the gene have been linked to cognitive phenotypes (such as facial fear recognition, especially in Turner syndrome), harm avoidance, learning disability, and some forms of epilepsy[1][3][5]. There are no known drugs directly targeting EFHC2, and it is not currently considered a canonical therapeutic target like a receptor, enzyme, or transporter. However, its genetic variants may have biomarker value for certain cognitive or neuropsychiatric traits[3][5].

Other names

EF-hand domain-containing family member C2FLJ22843MRX74dJ1158H2.1EF-hand domain (C-terminal) containing 2