Gene: KCNB2

Alternate names for this Gene: KV2.2

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. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shab-related subfamily. This member is a delayed rectifier potassium channel. The gene is expressed in gastrointestinal smooth muscle cells.

Gene is located in Chromosome: 8

Location in Chromosome : 8q21.11

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

Type of Gene: protein-coding

rs349356 in KCNB2 gene and Age at menarche PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs2128158 in KCNB2 gene and Alcohol consumption PMID 23953852 2013 Genome-wide association studies of maximum number of drinks.

rs4738296 in KCNB2 gene and Alopecia Areata PMID 22027810 2012 Genome-wide pooling approach identifies SPATA5 as a new susceptibility locus for alopecia areata.

rs7845090 in KCNB2 gene and Body mass index PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

rs16938372 in KCNB2 gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

rs2247572 in KCNB2 gene and Neuropsychological Tests PMID 20125193 2010 Common genetic variation and performance on standardized cognitive tests.

rs16938508 in KCNB2 gene and Parkinson Disease PMID 21812969 2011 Genome-wide association study identifies candidate genes for Parkinson's disease in an Ashkenazi Jewish population.

rs7845090 in KCNB2 gene and body fat percentage (physical finding) PMID 30593698 2019 Genomics of body fat percentage may contribute to sex bias in anorexia nervosa.