功能Potassium channel subunit. Modulates channel activity by shifting the threshold and the half-maximal activation to more negative values.
组织特异性Detected in lung, liver, kidney, pancreas, spleen, thymus, prostate, testis, ovary and colon.
疾病相关Defects in KCNV2 are the cause of cone dystrophy retinal type 3B (RCD3B) [MIM:610356]; also called cone dystrophy with night blindness and supernormal rod responses KCNV2-related. RCD3B is a rare form of cone dystrophy associated with supernormal rod responses. The disorder is characterized by reduced visual acuity, photoaversion, night blindness, and abnormal color vision. At an early age, the retina shows subtle depigmentation at the macula and, later, more obvious areas of atrophy.
序列相似性Belongs to the potassium channel family. V (TC 1.A.1.2) subfamily. Kv8.2/KCNV2 sub-subfamily.
结构域The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position.
细胞定位Cell membrane. Has to be associated with KCNB1 or possibly another partner to get inserted in the plasma membrane. Remains intracellular in the absence of KCNB1.