Kcnj8 potassium inwardly-rectifying channel, subfamily J, member 8 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Kcnj8provided by MGI
Official Full Name: potassium inwardly-rectifying channel, subfamily J, member 8provided by MGI
Primary source: MGI:MGI:1100508
See related: Ensembl:ENSMUSG00000030247 AllianceGenome:MGI:1100508
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: sltr; gnite; slmbr; Kir6.1; uKATP-1
Summary: Predicted to enable several functions, including ATP binding activity; sulfonylurea receptor binding activity; and voltage-gated potassium channel activity. Acts upstream of or within several processes, including defense response to virus; response to exogenous dsRNA; and response to lipopolysaccharide. Located in myofibril. Is expressed in genitourinary system and heart. Used to study coronary artery disease and hypertrichotic osteochondrodysplasia Cantu type. Orthologous to human KCNJ8 (potassium inwardly rectifying channel subfamily J member 8). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in subcutaneous fat pad adult (RPKM 13.7), heart adult (RPKM 13.0) and 25 other tissues See more
Orthologs: human all
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Genomic context

Location:: 6 G2; 6 74.31 cM

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	6	NC_000072.7 (142510563..142517340, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	6	NC_000072.6 (142564837..142571614, complement)

Chromosome 6 - NC_000072.7 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?

Lymphatic contractile dysfunction in mouse models of Cantu Syndrome with KATP channel gain-of-function.
Title: Lymphatic contractile dysfunction in mouse models of Cantú Syndrome with K(ATP) channel gain-of-function.
KCNJ8/ABCC9-containing K-ATP channel modulates brain vascular smooth muscle development and neurovascular coupling.
Title: KCNJ8/ABCC9-containing K-ATP channel modulates brain vascular smooth muscle development and neurovascular coupling.
Astrocytic Kir6.1 deletion aggravates neurodegeneration in the lipopolysaccharide-induced mouse model of Parkinson's disease via astrocyte-neuron cross talk through complement C3-C3R signaling.
Title: Astrocytic Kir6.1 deletion aggravates neurodegeneration in the lipopolysaccharide-induced mouse model of Parkinson's disease via astrocyte-neuron cross talk through complement C3-C3R signaling.
Memantine Improves Depressive-like Behaviors via Kir6.1 Channel Inhibition in Olfactory Bulbectomized Mice.
Title: Memantine Improves Depressive-like Behaviors via Kir6.1 Channel Inhibition in Olfactory Bulbectomized Mice.
Kir6.1 Heterozygous Mice Exhibit Aberrant Amygdala-Dependent Cued Fear Memory.
Title: Kir6.1 Heterozygous Mice Exhibit Aberrant Amygdala-Dependent Cued Fear Memory.
Glibenclamide reverses cardiovascular abnormalities of Cantu syndrome driven by KATP channel overactivity.
Title: Glibenclamide reverses cardiovascular abnormalities of Cantu syndrome driven by KATP channel overactivity.
Kir6.1/K-ATP channel on astrocytes protects against dopaminergic neurodegeneration in the MPTP mouse model of Parkinson's disease via promoting mitophagy.
Title: Kir6.1/K-ATP channel on astrocytes protects against dopaminergic neurodegeneration in the MPTP mouse model of Parkinson's disease via promoting mitophagy.
A previously unrecognized function of Kir6.1 as a negative regulator of the NLRP3 inflammasome and insulin resistance, which is mediated by virtue of its ability to inhibit NLRP3 inflammasome assembly.
Title: The pore-forming subunit Kir6.1 of the K-ATP channel negatively regulates the NLRP3 inflammasome to control insulin resistance by interacting with NLRP3.
In KIR6.1 deficient mice resting cerebral blood flow and brain parenchymal partial pressure of oxygen (PO2) were found to be markedly lower compared to that in their wildtype littermates. However, cortical blood oxygen level dependent responses triggered by visual stimuli were not affected in conditions of KIR6.1 deficiency.
Title: A critical role for the ATP-sensitive potassium channel subunit K(IR)6.1 in the control of cerebral blood flow.
Kir6.1 deficiency dramatically exacerbated dopaminergic neuron death companied by microglia activation in mouse model of Parkinson's disease.
Title: Kir6.1/K-ATP channel modulates microglia phenotypes: implication in Parkinson's disease.

Submit: New GeneRIF Correction See all GeneRIFs (39)

Variation

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Alleles

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

Spontaneous (1) 1 citation
Targeted (5) 1 citation
Chemically induced (ENU) (4) 1 citation
Endonuclease-mediated (8) 1 citation

General gene information

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Markers

AI448900 (e-PCR)
- UniSTS:179491

D88159 (e-PCR)
- UniSTS:159584

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP binding	ISO Inferred from Sequence Orthology more info
enables ATP-activated inward rectifier potassium channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables ATP-activated inward rectifier potassium channel activity	ISO Inferred from Sequence Orthology more info
enables ATPase-coupled monoatomic cation transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
enables inward rectifier potassium channel activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sulfonylurea receptor binding	ISO Inferred from Sequence Orthology more info
enables voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	ISO Inferred from Sequence Orthology more info
enables voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within CAMKK-AMPK signaling cascade	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within NLRP3 inflammasome complex assembly	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within NLRP3 inflammasome complex assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within action potential	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within action potential	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within adaptive immune response	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within atrioventricular node cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within blood vessel development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within calcium ion transmembrane transport	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cardiac pacemaker cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within circulatory system development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within coronary vasculature development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within coronary vasculature development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cytokine production	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within defense response to virus	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within determination of adult lifespan	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within endothelin production	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within establishment of cell polarity	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within establishment of cell polarity	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within fat cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within fatty acid transport	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within fibroblast proliferation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within glutamate secretion, neurotransmission	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within heart development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within heart morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within heart morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within inflammatory response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in inorganic cation transmembrane transport	ISO Inferred from Sequence Orthology more info
involved_in membrane repolarization during ventricular cardiac muscle cell action potential	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within microglial cell activation	IMP Inferred from Mutant Phenotype more info	PubMed
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
acts_upstream_of_or_within nervous system process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuromuscular process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within p38MAPK cascade	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within phloem or xylem histogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in potassium ion import across plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in potassium ion import across plasma membrane	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within potassium ion transmembrane transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in potassium ion transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within protein secretion	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within reactive gliosis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of blood pressure	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within regulation of blood pressure	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of cation channel activity	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within regulation of heart rate	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of monoatomic ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within response to ATP	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to cytokine	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to endoplasmic reticulum stress	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to exogenous dsRNA	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to hypoxia	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to insulin	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to ischemia	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to lipopolysaccharide	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to resveratrol	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to stress	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within response to xenobiotic stimulus	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within response to xenobiotic stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within synaptic assembly at neuromuscular junction	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within transmission of nerve impulse	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within vasculature development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within vasodilation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within ventricular cardiac muscle tissue development	IGI Inferred from Genetic Interaction more info	PubMed

Component	Evidence Code	Pubs
is_active_in glutamatergic synapse	ISO Inferred from Sequence Orthology more info
part_of inward rectifying potassium channel	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 myofibril	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in presynapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in presynaptic active zone membrane	ISO Inferred from Sequence Orthology more info
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed
located_in sarcolemma	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: ATP-sensitive inward rectifier potassium channel 8

Names: inward rectifier K(+) channel Kir6.1; inwardly rectifier K(+) channel Kir6.1

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_001330363.1 → NP_001317292.1 ATP-sensitive inward rectifier potassium channel 8 isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same isoform (1).

Source sequence(s)

AA672233, AC121611, BY252361, CJ238449, CK389528

Consensus CDS

CCDS20685.1

UniProtKB/Swiss-Prot

P97794

UniProtKB/TrEMBL

Q3U118

Conserved Domains (2) summary

pfam01007
Location:37 → 184

IRK; Inward rectifier potassium channel

pfam17655
Location:191 → 363

IRK_C; Inward rectifier potassium channel C-terminal domain
NM_001330366.1 → NP_001317295.1 ATP-sensitive inward rectifier potassium channel 8 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (3) uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. It encodes isoform 2, which has a shorter and distinct C-terminus, compared to isoform 1.

Source sequence(s)

AK031777, CJ238449, CK389528

Consensus CDS

CCDS90135.1

UniProtKB/TrEMBL

A0A0J9YMM3

Related

ENSMUSP00000032374.9, ENSMUST00000032374.9
NM_008428.5 → NP_032454.1 ATP-sensitive inward rectifier potassium channel 8 isoform 1

See identical proteins and their annotated locations for NP_032454.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Both variants 1 and 2 encode the same isoform (1).

Source sequence(s)

AA672233, AC121611, CJ238449, CK389528

Consensus CDS

CCDS20685.1

UniProtKB/Swiss-Prot

P97794

UniProtKB/TrEMBL

Q3U118

Related

ENSMUSP00000145440.2, ENSMUST00000203945.3

Conserved Domains (2) summary

pfam01007
Location:37 → 184

IRK; Inward rectifier potassium channel

pfam17655
Location:191 → 363

IRK_C; Inward rectifier potassium channel C-terminal domain