KCNB1
Potassium voltage-gated channel subfamily B member 1
Gene Information Card
| Symbol | KCNB1 |
|---|---|
| Full Name | Potassium voltage-gated channel subfamily B member 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 20q13.13 |
| NCBI Gene ID | 3745 ncbi.nlm.nih.gov/gene/3745 |
| Ensembl ID | ENSG00000158445 |
| UniProt ID | Q14721 |
| OMIM ID | 600397 |
| HGNC ID | 6228 |
| Aliases | Kv2.1, KCNB2, delayed rectifier potassium channel |
Description
KCNB1 encodes the Kv2.1 voltage-gated potassium channel, a delayed rectifier channel critical for neuronal repolarization and regulation of action potential firing. It is widely expressed in the brain and pancreas. Mutations in KCNB1 are associated with epileptic encephalopathies and neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Developmental and epileptic encephalopathy 26 (DEE26) | Loss-of-function or dominant-negative mutations reduce potassium current, prolonging action potentials and increasing neuronal excitability. | ClinVar, OMIM |
| Epilepsy, early-onset, with or without intellectual disability | Missense variants impair channel trafficking or gating, leading to hyperexcitability. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 32.5 | High |
| Pancreas | 8.2 | Medium |
| Heart | 3.1 | Low |
| Liver | 0.9 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 28.4 | High expression |
| HEK293 (embryonic kidney) | 1.2 | Low expression |
| U-87 MG (glioblastoma) | 15.6 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1070G>A (p.Arg357His) | Missense | Rare | Reduced current density; dominant-negative effect |
| c.1234C>T (p.Arg412Cys) | Missense | Rare | Impaired trafficking; loss of function |
| c.1678G>A (p.Gly560Arg) | Missense | Rare | Altered voltage dependence; gain of function |
Mutation functional classification
Loss of Function (LOF)
Mutations that reduce potassium current (e.g., p.Arg412Cys) by impairing channel trafficking or conductance.
Gain of Function (GOF)
Mutations that alter voltage dependence (e.g., p.Gly560Arg) leading to premature channel opening.
Dominant Negative (DN)
Mutations (e.g., p.Arg357His) that co-assemble with wild-type subunits and suppress total channel function.
View complete mutation data：
Gene Ontology (GO)
| • voltage-gated potassium channel activity (GO:0005249) | • delayed rectifier potassium channel activity (GO:0005251) |
| • plasma membrane (GO:0005886) | • neuronal action potential (GO:0019228) |
Pathways
• Voltage-gated potassium channels (Reactome: R-HSA-1296071)
• Neuronal System (Reactome: R-HSA-112316)
Protein Summary
Kv2.1 is a 857-amino acid protein with six transmembrane domains (S1–S6), a pore loop between S5 and S6, and a large cytoplasmic C-terminus. It forms homotetramers and mediates delayed rectifier potassium currents essential for action potential repolarization. The protein is regulated by phosphorylation and SUMOylation, and clusters on the neuronal soma and proximal dendrites.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KCNB1 Knockout HEK293 Cell Line | EDJ-KQ4237 | Human | 3745 | Details Get a Quote |
| KCNB1 Knockout HeLa Cell Line | EDJ-KQ53700 | Human | 3745 | Details Get a Quote |
| KCNB1 Knockout A-549 Cell Line | EDJ-KQ62178 | Human | 3745 | Details Get a Quote |
| KCNB1 Knockout HCT 116 Cell Line | EDJ-KQ70664 | Human | 3745 | Details Get a Quote |
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