Gene: KCNV2

Alternate names for this Gene: KV11.1|Kv8.2|RCD3B

Gene Summary: Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium voltage-gated channel subfamily V. This member is identified as a 'silent subunit', and it does not form homomultimers, but forms heteromultimers with several other subfamily members. Through obligatory heteromerization, it exerts a function-altering effect on other potassium channel subunits. This protein is strongly expressed in pancreas and has a weaker expression in several other tissues.

Gene is located in Chromosome: 9

Location in Chromosome : 9p24.2

Description of this Gene: potassium voltage-gated channel modifier subfamily V member 2

Type of Gene: protein-coding

rs1402837406 in KCNV2 gene and Progressive cone dystrophy (without rod involvement) PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs104894116 in KCNV2 gene and Retinal Cone Dystrophy 3B PMID 16909397 2006 "Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause ""cone dystrophy with supernormal rod electroretinogram"" in humans."

rs786205121 in KCNV2 gene and Retinal Dystrophies PMID 21882291 2011 Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response.

rs1402837406 in KCNV2 gene and STARGARDT DISEASE 1 (disorder) PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.