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
Gene: PUM3
Alternate names for this Gene: HA-8|HLA-HA8|KIAA0020|PEN|PUF-A|PUF6|XTP5
Gene Summary:
Gene is located in Chromosome: 9
Location in Chromosome : 9p24.2
Description of this Gene: pumilio RNA binding family member 3
Type of Gene: protein-coding
rs149648640 in
KCNV2;PUM3 gene and
Retinal Cone Dystrophy 3B
PMID 18235024 2008 Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2.
PMID 21911584 2011 Long-term follow-up of the human phenotype in three siblings with cone dystrophy associated with a homozygous p.G461R mutation of KCNV2.
PMID 23115240 2012 Functional analysis of missense mutations in Kv8.2 causing cone dystrophy with supernormal rod electroretinogram.
PMID 23885164 2013 Molecular characteristics of four Japanese cases with KCNV2 retinopathy: report of novel disease-causing variants.
PMID 21882291 2011 Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response.