KCNB2
Potassium Voltage-Gated Channel Subfamily B Member 2
Gene Information Card
| Symbol | KCNB2 |
|---|---|
| Full Name | potassium voltage-gated channel subfamily B member 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 8q13.3 |
| NCBI Gene ID | 9312 ncbi.nlm.nih.gov/gene/9312 |
| Ensembl ID | ENSG00000104419 |
| UniProt ID | Q92953 |
| OMIM ID | 607738 |
| HGNC ID | 6232 |
| Aliases | Kv2.2, KCNB2 |
Description
KCNB2 encodes the Kv2.2 voltage-gated potassium channel subunit, which assembles as a tetramer to form delayed rectifier potassium channels. These channels regulate neuronal excitability, action potential repolarization, and neurotransmitter release. Kv2.2 is predominantly expressed in the brain and pancreas.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Epileptic encephalopathy | Loss-of-function mutations reduce potassium current, leading to neuronal hyperexcitability | ClinVar |
| Developmental and epileptic encephalopathy 100 (DEE100) | Heterozygous missense variants impair channel function | OMIM #619913 |
| Type 2 diabetes (candidate) | Altered insulin secretion via pancreatic beta-cell Kv2.2 channels | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | High |
| Pancreas | 8.7 | Medium |
| Testis | 4.1 | Low |
| Heart | 2.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 12.5 | Neuronal model |
| MIN6 (pancreatic beta-cell) | 9.8 | Insulin secretion model |
| HEK293 | 1.2 | Low endogenous expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234G>A (p.Gly412Arg) | Missense | Rare | Loss of function; reduced current density |
| c.567C>T (p.Arg189Trp) | Missense | Rare | Dominant-negative effect on channel gating |
| c.2345_2346del (p.Leu782fs) | Frameshift | Very rare | Truncation; complete loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense and frameshift variants that reduce or abolish potassium conductance.
Gain of Function (GOF)
Not reported for KCNB2.
Dominant Negative (DN)
Some missense variants (e.g., p.Arg189Trp) impair wild-type subunit function in heterotetramers.
View complete mutation data：
Gene Ontology (GO)
| • voltage-gated potassium channel activity | • delayed rectifier potassium channel activity |
| • plasma membrane | • neuronal action potential |
| • regulation of insulin secretion |
Pathways
• Voltage-gated potassium channels
• Neuronal System
• Insulin secretion
Protein Summary
Kv2.2 is a 907-amino acid voltage-gated potassium channel subunit with six transmembrane segments (S1-S6). It forms homotetrameric or heterotetrameric channels with Kv2.1. The channel mediates delayed rectifier potassium currents critical for action potential repolarization. It is highly expressed in brain regions including cortex, hippocampus, and cerebellum, and in pancreatic beta-cells where it modulates glucose-stimulated insulin secretion.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KCNB2 Knockout HEK293 Cell Line | EDJ-KQ5873 | Human | 9312 | Details Get a Quote |
| KCNB2 Knockout HeLa Cell Line | EDJ-KQ55125 | Human | 9312 | Details Get a Quote |
| KCNB2 Knockout A-549 Cell Line | EDJ-KQ63605 | Human | 9312 | Details Get a Quote |
| KCNB2 Knockout HCT 116 Cell Line | EDJ-KQ72069 | Human | 9312 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
