KCNB1 potassium voltage-gated channel subfamily B member 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KCNB1provided by HGNC
Official Full Name: potassium voltage-gated channel subfamily B member 1provided by HGNC
Primary source: HGNC:HGNC:6231
See related: Ensembl:ENSG00000158445 MIM:600397; AllianceGenome:HGNC:6231
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DRK1; DEE26; Kv2.1
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 and its activity is modulated by some other family members. [provided by RefSeq, Jul 2008]
Expression: Biased expression in brain (RPKM 9.2), fat (RPKM 8.5) and 6 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20q13.13

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (49363877..49483362, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (51133489..51253649, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (47980414..48099205, complement)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

KCNG4 Genetic Variant Linked to Migraine Prevents Expression of KCNB1.
Title: KCNG4 Genetic Variant Linked to Migraine Prevents Expression of KCNB1.
Inactivation of the Kv2.1 channel through electromechanical coupling.
Title: Inactivation of the Kv2.1 channel through electromechanical coupling.
Cleavage of Kv2.1 by BACE1 decreases potassium current and reduces neuronal apoptosis.
Title: Cleavage of Kv2.1 by BACE1 decreases potassium current and reduces neuronal apoptosis.
Adaptive behavior and psychiatric comorbidities in KCNB1 encephalopathy.
Title: Adaptive behavior and psychiatric comorbidities in KCNB1 encephalopathy.
The role of the voltage-gated potassium channel, Kv2.1 in prostate cancer cell migration.
Title: The role of the voltage-gated potassium channel, Kv2.1 in prostate cancer cell migration.
Kv2 channel-AMIGO beta-subunit assembly modulates both channel function and cell adhesion molecule surface trafficking.
Title: Kv2 channel-AMIGO β-subunit assembly modulates both channel function and cell adhesion molecule surface trafficking.
Establishment of an induced pluripotent stem cell line (ZJSHi001-A) from a patient with epileptic encephalopathy carrying KCNB1 Glu330Asp mutation.
Title: Establishment of an induced pluripotent stem cell line (ZJSHi001-A) from a patient with epileptic encephalopathy carrying KCNB1 Glu330Asp mutation.
Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature.
Title: Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature.
Selective expression of KCNA5 and KCNB1 genes in gastric and colorectal carcinoma.
Title: Selective expression of KCNA5 and KCNB1 genes in gastric and colorectal carcinoma.
Western influenced lifestyle and Kv2.1 association as predicted biomarkers for Tunisian colorectal cancer.
Title: Western influenced lifestyle and Kv2.1 association as predicted biomarkers for Tunisian colorectal cancer.

Submit: New GeneRIF Correction See all GeneRIFs (62)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Developmental and epileptic encephalopathy, 26 MedGen: C4015119 OMIM: 616056 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	HIV-1 Env gp120 upregulates voltage-gated potassium channels (Kv2.1) via p38 MAPK pathway in hippocampal neurons	PubMed
	env	HIV-1 gp120-induced dephosphorylation of KV2.1 and re-localization of KV2.1 on the soma and proximal dendrites results in disruption of the clustered KV2.1 via activation of CCR5/CXCR4 co-receptors or SDF-1 alpha treatment	PubMed
	env	HIV-1 gp120-induced dephosphorylation of KV2.1 is dependent on NMDA receptor-mediated activation of protein phosphatase 2B or calcineurin	PubMed
Tat	tat	Microarray analysis indicates HIV-1 Tat-induced downregulation of potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1) in primary human brain microvascular endothelial cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D20S1096 (e-PCR)
- UniSTS:51006

D20S809 (e-PCR)
- UniSTS:81021

KCNB1_1313 (e-PCR)
- UniSTS:277409

KCNB1_v397 (e-PCR)
- UniSTS:277409

AL031795 (e-PCR)
- UniSTS:93118

SHGC-31067 (e-PCR)
- UniSTS:62935

G01535 (e-PCR)
- UniSTS:57822

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables SNARE binding	IEA Inferred from Electronic Annotation more info
enables delayed rectifier potassium channel activity	IDA Inferred from Direct Assay more info	PubMed
enables delayed rectifier potassium channel activity	ISS Inferred from Sequence or Structural Similarity more info
enables outward rectifier potassium channel activity	IEA Inferred from Electronic Annotation more info
enables potassium channel regulator activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein heterodimerization activity	ISS Inferred from Sequence or Structural Similarity more info
enables transmembrane transporter binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in action potential	IBA Inferred from Biological aspect of Ancestor more info
involved_in action potential	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to calcium ion	IEA Inferred from Electronic Annotation more info
involved_in cellular response to glucose stimulus	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to nutrient levels	ISS Inferred from Sequence or Structural Similarity more info
involved_in clustering of voltage-gated potassium channels	IEA Inferred from Electronic Annotation more info
involved_in glucose homeostasis	ISS Inferred from Sequence or Structural Similarity more info
involved_in glutamate receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of insulin secretion	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of calcium ion-dependent exocytosis	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of catecholamine secretion	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of long-term synaptic depression	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of norepinephrine secretion	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of protein targeting to membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein targeting to membrane	ISS Inferred from Sequence or Structural Similarity more info
involved_in potassium ion export across plasma membrane	IEA Inferred from Electronic Annotation more info
involved_in potassium ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in potassium ion transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in potassium ion transmembrane transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein homooligomerization	IEA Inferred from Electronic Annotation more info
involved_in protein localization to plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of action potential	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of motor neuron apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to L-glutamate	IEA Inferred from Electronic Annotation more info
involved_in response to axon injury	IEA Inferred from Electronic Annotation more info
involved_in vesicle docking involved in exocytosis	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in apical plasma membrane	IEA Inferred from Electronic Annotation more info
is_active_in axon	IBA Inferred from Biological aspect of Ancestor more info
located_in axon	ISS Inferred from Sequence or Structural Similarity more info
located_in cell surface	IEA Inferred from Electronic Annotation more info
located_in cholinergic synapse	IEA Inferred from Electronic Annotation more info
located_in dendrite	ISS Inferred from Sequence or Structural Similarity more info
is_active_in dendrite membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in lateral plasma membrane	IEA Inferred from Electronic Annotation more info
is_active_in neuronal cell body membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in neuronal cell body membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in perikaryon	ISS Inferred from Sequence or Structural Similarity more info
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
is_active_in postsynaptic membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in postsynaptic specialization membrane	IEA Inferred from Electronic Annotation more info
located_in proximal dendrite	IEA Inferred from Electronic Annotation more info
located_in sarcolemma	IEA Inferred from Electronic Annotation more info
part_of voltage-gated potassium channel complex	IBA Inferred from Biological aspect of Ancestor more info
part_of voltage-gated potassium channel complex	IDA Inferred from Direct Assay more info	PubMed
part_of voltage-gated potassium channel complex	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: potassium voltage-gated channel subfamily B member 1

Names: delayed rectifier potassium channel 1; potassium voltage-gated channel, Shab-related subfamily, member 1; voltage-gated potassium channel subunit Kv2.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_041781.2 RefSeqGene

Range

4977..123768

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_004975.4 → NP_004966.1 potassium voltage-gated channel subfamily B member 1

See identical proteins and their annotated locations for NP_004966.1

Status: REVIEWED

Source sequence(s)

AF026005, AL035685, H12055, L02840

Consensus CDS

CCDS13418.1

UniProtKB/Swiss-Prot

Q14193, Q14721

UniProtKB/TrEMBL

Q2NLD5

Related

ENSP00000360806.3, ENST00000371741.6

Conserved Domains (3) summary

cd18412
Location:15 → 141

BTB_POZ_KCNB2; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in potassium voltage-gated channel subfamily B member 2 (KCNB2)

pfam00520
Location:188 → 424

Ion_trans; Ion transport protein

pfam03521
Location:467 → 679

Kv2channel; Kv2 voltage-gated K+ channel

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000020.11 Reference GRCh38.p14 Primary Assembly

Range

49363877..49483362 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011528799.3 → XP_011527101.1 potassium voltage-gated channel subfamily B member 1 isoform X1

See identical proteins and their annotated locations for XP_011527101.1

UniProtKB/Swiss-Prot

Q14193, Q14721

UniProtKB/TrEMBL

Q2NLD5

Conserved Domains (3) summary

cd18412
Location:15 → 141

BTB_POZ_KCNB2; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in potassium voltage-gated channel subfamily B member 2 (KCNB2)

pfam00520
Location:188 → 424

Ion_trans; Ion transport protein

pfam03521
Location:467 → 679

Kv2channel; Kv2 voltage-gated K+ channel

Alternate T2T-CHM13v2.0

Genomic

NC_060944.1 Alternate T2T-CHM13v2.0

Range

51133489..51253649 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054323413.1 → XP_054179388.1 potassium voltage-gated channel subfamily B member 1 isoform X1

UniProtKB/Swiss-Prot

Q14193, Q14721

UniProtKB/TrEMBL

Q2NLD5
XM_054323414.1 → XP_054179389.1 potassium voltage-gated channel subfamily B member 1 isoform X1

UniProtKB/Swiss-Prot

Q14193, Q14721

UniProtKB/TrEMBL

Q2NLD5