KCNB2 Chromosome 8
Potassium voltage-gated channel subfamily B member 2
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What This Gene Does
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. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Potassium voltage-gated channels|BTB domain containing"
Locus Type
gene with protein product
Location
8q21.11
Ensembl
ENSG00000182674
Associated Conditions (2)
Uterine carcinosarcoma
Colorectal cancer
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS747695999 | Health Risk | Conflicting classifications of pathogenicity | Uterine carcinosarcoma, Uterine carcinosarcoma |
| RS2919408 | Health Risk | risk factor | Colorectal cancer, Colorectal cancer |