Kcnb1 potassium voltage gated channel, Shab-related subfamily, member 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Kcnb1provided by MGI
Official Full Name: potassium voltage gated channel, Shab-related subfamily, member 1provided by MGI
Primary source: MGI:MGI:96666
See related: Ensembl:ENSMUSG00000050556 AllianceGenome:MGI:96666
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Shab; Kv2.1; Kcr1-1
Summary: Enables delayed rectifier potassium channel activity. Involved in several processes, including cellular response to glucose stimulus; negative regulation of insulin secretion; and positive regulation of long-term synaptic depression. Located in dendrite and neuronal cell body membrane. Part of voltage-gated potassium channel complex. Is expressed in several structures, including adipose tissue; brain; cardiovascular system; genitourinary system; and gut. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 26 and epilepsy. Orthologous to human KCNB1 (potassium voltage-gated channel subfamily B member 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in cortex adult (RPKM 12.1), frontal lobe adult (RPKM 11.6) and 19 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 H3; 2 87.22 cM

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (166937889..167032088, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (167095969..167190072, complement)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Integrin-KCNB1 potassium channel complexes regulate neocortical neuronal development and are implicated in epilepsy.
Title: Integrin-KCNB1 potassium channel complexes regulate neocortical neuronal development and are implicated in epilepsy.
Cdyl Deficiency Brakes Neuronal Excitability and Nociception through Promoting Kcnb1 Transcription in Peripheral Sensory Neurons.
Title: Cdyl Deficiency Brakes Neuronal Excitability and Nociception through Promoting Kcnb1 Transcription in Peripheral Sensory Neurons.
Kv2.1 expression in giant reticular neurons of the postnatal mouse brain.
Title: Kv2.1 expression in giant reticular neurons of the postnatal mouse brain.
Molecular, Cellular and Functional Changes in the Retinas of Young Adult Mice Lacking the Voltage-Gated K(+) Channel Subunits Kv8.2 and K2.1.
Title: Molecular, Cellular and Functional Changes in the Retinas of Young Adult Mice Lacking the Voltage-Gated K(+) Channel Subunits Kv8.2 and K2.1.
Site-specific contacts enable distinct modes of TRPV1 regulation by the potassium channel Kvbeta1 subunit.
Title: Site-specific contacts enable distinct modes of TRPV1 regulation by the potassium channel Kvβ1 subunit.
Kv2.1 plays a canonical conductive role but found it also has a structural role in arterial myocytes to enhance clustering of CaV1.2 channels.
Title: Kv2.1 channels play opposing roles in regulating membrane potential, Ca(2+) channel function, and myogenic tone in arterial smooth muscle.
the VAP-interacting membrane-associated phosphatidylinositol (PtdIns) transfer proteins PYK2 N-terminal domain-interacting receptor 2 (Nir2) and Nir3 specifically associate with Kv2.1 complexes.
Title: Neuronal ER-plasma membrane junctions organized by Kv2-VAP pairing recruit Nir proteins and affect phosphoinositide homeostasis.
results suggest that Kv2.1 clusters exert a spatially discrete homeostatic braking mechanism on dopamine transporter by inducing a relative increase in inward-facing transporters
Title: Clustered Kv2.1 decreases dopamine transporter activity and internalization.
Expression of Kv2.1 recruits VAPB and VAPA to ER-PM junctions. Knocking out VAPA expression disrupts Kv2.1 clustering.The domains of VAPs and Kv2.1 necessary and sufficient for their association at ER-PM junctions were identified. Kv2.1 expression in the plasma membrane can affect ER-PM junctions via its phosphorylation-dependent association to ER-localized VAPA and VAPB.
Title: Identification of VAPA and VAPB as Kv2 Channel-Interacting Proteins Defining Endoplasmic Reticulum-Plasma Membrane Junctions in Mammalian Brain Neurons.
Kv8.2 knock-out (KO) mice show many similarities to human cone dystrophy with a supernormal rod response, including a depressed a-wave and an elevated b-wave response with bright light stimulation. Optical coherence tomography imaging and immunohistochemistry indicate that the changes in six-month-old Kv8.2 KO retinae are largely limited to the outer nuclear layer, while outer segments appear intact.
Title: The Role of the Voltage-Gated Potassium Channel Proteins Kv8.2 and Kv2.1 in Vision and Retinal Disease: Insights from the Study of Mouse Gene Knock-Out Mutations.

Submit: New GeneRIF Correction See all GeneRIFs (37)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (3) 1 citation
Endonuclease-mediated (7) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D2Mit413 (e-PCR), detects polymorphism
- UniSTS:129320

AI852064 (e-PCR)
- UniSTS:178776

Kcnb1 (e-PCR), detects polymorphism
- UniSTS:463211

RH134778 (e-PCR)
- UniSTS:218056

D20S549E (e-PCR)
- UniSTS:150766

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables SNARE binding	ISO Inferred from Sequence Orthology more info
enables delayed rectifier potassium channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables delayed rectifier potassium channel activity	IDA Inferred from Direct Assay more info	PubMed
enables delayed rectifier potassium channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables delayed rectifier potassium channel activity	ISO Inferred from Sequence Orthology more info
enables monoatomic ion channel activity	IEA Inferred from Electronic Annotation more info
enables outward rectifier potassium channel activity	ISO Inferred from Sequence Orthology more info
enables potassium channel activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein heterodimerization activity	ISO Inferred from Sequence Orthology more info
enables transmembrane transporter binding	ISO Inferred from Sequence Orthology more info
enables voltage-gated potassium channel activity	ISO Inferred from Sequence Orthology more info	PubMed

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

Component	Evidence Code	Pubs
located_in apical plasma membrane	ISO Inferred from Sequence Orthology more info
is_active_in axon	IBA Inferred from Biological aspect of Ancestor more info
located_in axon	ISO Inferred from Sequence Orthology more info
located_in cell projection	IEA Inferred from Electronic Annotation more info
located_in cell surface	ISO Inferred from Sequence Orthology more info
is_active_in cholinergic synapse	ISO Inferred from Sequence Orthology more info
located_in dendrite	IDA Inferred from Direct Assay more info	PubMed
located_in dendrite	ISO Inferred from Sequence Orthology more info
is_active_in dendrite membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in dendrite membrane	ISO Inferred from Sequence Orthology more info
located_in lateral plasma membrane	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
part_of monoatomic ion channel complex	IEA Inferred from Electronic Annotation more info
located_in neuron projection	IEA Inferred from Electronic Annotation more info
located_in neuronal cell body	ISO Inferred from Sequence Orthology more info
is_active_in neuronal cell body membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in neuronal cell body membrane	IDA Inferred from Direct Assay more info	PubMed
located_in neuronal cell body membrane	ISO Inferred from Sequence Orthology more info
located_in perikaryon	ISO Inferred from Sequence Orthology more info
located_in perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
is_active_in postsynaptic membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in postsynaptic membrane	ISO Inferred from Sequence Orthology more info
is_active_in postsynaptic specialization membrane	ISO Inferred from Sequence Orthology more info
located_in proximal dendrite	ISO Inferred from Sequence Orthology more info
located_in synapse	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	ISO Inferred from Sequence Orthology more info

General protein information

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

Names: 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.

mRNA and Protein(s)

NM_008420.4 → NP_032446.2 potassium voltage-gated channel subfamily B member 1

See identical proteins and their annotated locations for NP_032446.2

Status: VALIDATED

Source sequence(s)

AL591711, AL591854, BC061501

Consensus CDS

CCDS17096.1

UniProtKB/Swiss-Prot

Q03717, Q8K0D1

UniProtKB/TrEMBL

Q80X33

Related

ENSMUSP00000147093.2, ENSMUST00000207917.2

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 → 678

Kv2channel; Kv2 voltage-gated K+ channel

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000068.8 Reference GRCm39 C57BL/6J

Range

166937889..167032088 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017315732.3 → XP_017171221.1 potassium voltage-gated channel subfamily B member 1 isoform X1

UniProtKB/Swiss-Prot

Q03717, Q8K0D1

UniProtKB/TrEMBL

Q80X33

Related

ENSMUSP00000057981.8, ENSMUST00000059826.10

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 → 678

Kv2channel; Kv2 voltage-gated K+ channel