KCNB2 potassium voltage-gated channel subfamily B member 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KCNB2provided by HGNC
Official Full Name: potassium voltage-gated channel subfamily B member 2provided by HGNC
Primary source: HGNC:HGNC:6232
See related: Ensembl:ENSG00000182674 MIM:607738; AllianceGenome:HGNC:6232
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: KV2.2
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. [provided by RefSeq, Jul 2008]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 8q21.11

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (72537225..72938349)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (72972288..73367350)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (73449460..73850584)

Chromosome 8 - NC_000008.11 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: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Protein Kinase C Controls the Excitability of Cortical Pyramidal Neurons by Regulating Kv2.2 Channel Activity.
Title: Protein Kinase C Controls the Excitability of Cortical Pyramidal Neurons by Regulating Kv2.2 Channel Activity.
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.
Kv2.1, but not Kv2.2 (KCNB2), forms clusters of 6-12 tetrameric channels at the plasma membrane and facilitates insulin exocytosis
Title: Kv2.1 Clustering Contributes to Insulin Exocytosis and Rescues Human β-Cell Dysfunction.
Five de novo mutations were identified in four genes (SCNN1A, KCNJ16, KCNB2, and KCNT1) in three Brugada syndrome patients
Title: Disease-targeted sequencing of ion channel genes identifies de novo mutations in patients with non-familial Brugada syndrome.
The rs2128158 in KCNB2 showed significant associations with MaxDrinks.
Title: Genome-wide association studies of maximum number of drinks.
stromatoxin-1 -sensitive KV2-containing channels are expressed in detrusor smooth muscle (DSM); they control DSM excitability, intracellular Ca2+ levels, and myogenic and nerve-evoked contractions
Title: Expression and function of K(V)2-containing channels in human urinary bladder smooth muscle.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: A high-density association screen of 155 ion transport genes for involvement with common migraine.
Genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study.

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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

EBI GWAS Catalog

Description
A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Common genetic variation and performance on standardized cognitive tests. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study. 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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH71254 (e-PCR)
- UniSTS:64526

RH79592 (e-PCR)
- UniSTS:90653

SHGC-132369 (e-PCR)
- UniSTS:170798

SHGC-31224 (e-PCR)
- UniSTS:47205

SHGC-2410 (e-PCR)
- UniSTS:3689

NIB1578 (e-PCR)
- UniSTS:72812

WI-19811 (e-PCR)
- UniSTS:75381

SHGC-142768 (e-PCR)
- UniSTS:171647

D8S1776 (e-PCR), detects polymorphism
- UniSTS:78241

KCNB2_877 (e-PCR)
- UniSTS:277410

KCNB2_V171 (e-PCR)
- UniSTS:277410

D8S1434E (e-PCR)
- UniSTS:151223

SHGC-142013 (e-PCR)
- UniSTS:171194

D22S443 (e-PCR)
- UniSTS:11476

RH122127 (e-PCR)
- UniSTS:134879

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables delayed rectifier potassium channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables delayed rectifier potassium channel activity	ISS Inferred from Sequence or Structural Similarity 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

Process	Evidence Code	Pubs
involved_in action potential	IBA Inferred from Biological aspect of Ancestor more info
involved_in potassium ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in potassium ion transmembrane transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in potassium ion 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 smooth muscle contraction	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in dendrite	IBA Inferred from Biological aspect of Ancestor more info
located_in dendrite	ISS Inferred from Sequence or Structural Similarity more info
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in neuronal cell body	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	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	TAS Traceable Author Statement 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	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 2

Names: delayed rectifier potassium channel protein; potassium channel Kv2.2; potassium channel, voltage gated Shab related subfamily B, member 2; potassium voltage-gated channel, Shab-related subfamily, member 2; voltage-gated potassium channel subunit Kv2.2

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.

mRNA and Protein(s)

NM_004770.3 → NP_004761.2 potassium voltage-gated channel subfamily B member 2

See identical proteins and their annotated locations for NP_004761.2

Status: REVIEWED

Source sequence(s)

AC011131, AC022893

Consensus CDS

CCDS6209.1

UniProtKB/Swiss-Prot

Q7Z7D0, Q92953, Q9BXD3

Related

ENSP00000430846.1, ENST00000523207.2

Conserved Domains (5) summary

smart00225
Location:37 → 143

BTB; Broad-Complex, Tramtrack and Bric a brac

pfam00520
Location:230 → 428

Ion_trans; Ion transport protein

pfam02214
Location:37 → 136

BTB_2; BTB/POZ domain

pfam03521
Location:471 → 759

Kv2channel; Kv2 voltage-gated K+ channel

pfam07885
Location:341 → 422

Ion_trans_2; Ion channel