Potassium voltage-gated channel subfamily V member 2
Domain
The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position.
Function
Potassium channel subunit. Modulates channel activity by shifting the threshold and the half-maximal activation to more negative values.
Involvement in disease
Cone dystrophy retinal 3B
RCD3B
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the potassium channel family. V (TC 1.A.1.2) subfamily. Kv8.2/KCNV2 sub-subfamily.
Tissue Specificity
Detected in lung, liver, kidney, pancreas, spleen, thymus, prostate, testis, ovary and colon.
Cellular localization
- Cell membrane
- Multi-pass membrane protein
- Has to be associated with KCNB1 or possibly another partner to get inserted in the plasma membrane. Remains intracellular in the absence of KCNB1.
Alternative names
Potassium voltage-gated channel subfamily V member 2, Voltage-gated potassium channel subunit Kv8.2, KCNV2