Kcnj11 potassium inwardly rectifying channel, subfamily J, member 11 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Kcnj11provided by MGI
Official Full Name: potassium inwardly rectifying channel, subfamily J, member 11provided by MGI
Primary source: MGI:MGI:107501
See related: Ensembl:ENSMUSG00000096146 AllianceGenome:MGI:107501
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: mBIR; Kir6.2
Summary: Enables ATP binding activity; ATP-activated inward rectifier potassium channel activity; and ankyrin binding activity. Involved in potassium ion import across plasma membrane. Located in T-tubule. Part of inward rectifying potassium channel. Is expressed in several structures, including brain; cardiovascular system; gut; skeletal muscle tissue; and testis. Used to study permanent neonatal diabetes mellitus. Human ortholog(s) of this gene implicated in familial hyperinsulinemic hypoglycemia 2 and glucose metabolism disease (multiple). Orthologous to human KCNJ11 (potassium inwardly rectifying channel subfamily J member 11). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in heart adult (RPKM 35.0), cortex adult (RPKM 10.2) and 7 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 B3; 7 29.66 cM

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (45746545..45750215, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (46097123..46100952, complement)

Chromosome 7 - NC_000073.7 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: 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?

Structure based analysis of KATP channel with a DEND syndrome mutation in murine skeletal muscle.
Title: Structure based analysis of K(ATP) channel with a DEND syndrome mutation in murine skeletal muscle.
Kir6.2 is essential to maintain neurite features by modulating PM20D1-reduced mitochondrial ATP generation.
Title: Kir6.2 is essential to maintain neurite features by modulating PM20D1-reduced mitochondrial ATP generation.
Rab8a regulates Kir6.2 trafficking in a beta cell line.
Title: Rab8a is involved in membrane trafficking of Kir6.2 in the MIN6 insulinoma cell line.
KATP -gain of function (GOF) mice exhibited resistance to High fat diet-induced obesity, accompanied by markedly divergent blood glucose control, with some KATP -GOF mice showing persistent diabetes (KATP -GOF-non-remitter [NR] mice) and others showing remission of diabetes (KATP -GOF-remitter [R] mice).
Title: High-fat-diet-induced remission of diabetes in a subset of K(ATP) -GOF insulin-secretory-deficient mice.
Ligand binding and conformational changes of SUR1 subunit in pancreatic ATP-sensitive potassium channels
Title: Ligand binding and conformational changes of SUR1 subunit in pancreatic ATP-sensitive potassium channels.
Kir6.2 deletion protects DA neurons in MPTP poisoning via decreasing iron overload.
Title: Deletion of Kir6.2/SUR1 potassium channels rescues diminishing of DA neurons via decreasing iron accumulation in PD.
These results suggest that Kir6.2 in monoamine neurons, especially serotonergic neurons, could play a key role in emotional behavior.
Title: Possible involvement of monoamine neurons in the emotional abnormality in Kir6.2-deficient mice.
lack of Kir6.2 promoted neuronal differentiation via inhibiting the downregulation of glia cell line-derived neurotrophic factor (GDNF), which negatively related to the level of microRNA-133b.
Title: Kir6.2 Deficiency Promotes Mesencephalic Neural Precursor Cell Differentiation via Regulating miR-133b/GDNF in a Parkinson's Disease Mouse Model.
reduced age-dependent weight gain of WNK1 TG mice seems to be related with the decreased Kir6.2 expression via WNK1- and WNK4-regulated protein stability of Kir6.2.
Title: Overexpression of WNK1 in POMC-expressing neurons reduces weigh gain via WNK4-mediated degradation of Kir6.2.
histone H4 hyperacetylation induced by Class I HDACs inhibitors promoted the expression profiles of potassium channels (Kcnj2, Kcnj3, Kcnj5, Kcnj11, and Kcnh2)
Title: Regulation of Histone Acetylation on Expression Profiles of Potassium Channels During Cardiomyocyte Differentiation From Mouse Embryonic Stem Cells.

Submit: New GeneRIF Correction See all GeneRIFs (100)

Variation

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Alleles

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

Targeted (8) 1 citation
Chemically induced (ENU) (2) 1 citation
Endonuclease-mediated (5) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC312732P1 (e-PCR)
- UniSTS:272909

AI842722 (e-PCR)
- UniSTS:165525

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP binding	IDA Inferred from Direct Assay more info	PubMed
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	IDA Inferred from Direct Assay more info	PubMed
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 ankyrin binding	IPI Inferred from Physical Interaction more info	PubMed
enables ankyrin binding	ISO Inferred from Sequence Orthology more info
enables heat shock protein binding	ISO Inferred from Sequence Orthology more info
enables inward rectifier potassium channel activity	IDA Inferred from Direct Assay more info	PubMed
enables inward rectifier potassium channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables potassium ion binding	IC Inferred by Curator more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transmembrane transporter 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	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 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 apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cellular response to nutrient levels	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
involved_in glucose metabolic process	ISO Inferred from Sequence Orthology more info
involved_in inorganic cation transmembrane transport	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 negative regulation of insulin secretion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of insulin secretion	ISO Inferred from Sequence Orthology more info
involved_in nervous system process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of protein localization to plasma membrane	ISO Inferred from Sequence Orthology more info
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	IDA Inferred from Direct Assay more info	PubMed
involved_in potassium ion import across plasma membrane	ISO Inferred from Sequence Orthology more info
involved_in potassium ion transmembrane transport	ISO Inferred from Sequence Orthology more info
involved_in potassium ion transport	ISO Inferred from Sequence Orthology more info
involved_in regulation of insulin secretion	ISO Inferred from Sequence Orthology more info
involved_in regulation of membrane potential	ISO Inferred from Sequence Orthology more info
involved_in regulation of monoatomic ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to ATP	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within response to hypoxia	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 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
involved_in response to xenobiotic stimulus	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within ventricular cardiac muscle tissue development	IGI Inferred from Genetic Interaction more info	PubMed

Component	Evidence Code	Pubs
located_in T-tubule	IDA Inferred from Direct Assay more info	PubMed
located_in T-tubule	ISO Inferred from Sequence Orthology more info
located_in acrosomal vesicle	ISO Inferred from Sequence Orthology more info
located_in axolemma	ISO Inferred from Sequence Orthology more info
located_in cell body fiber	ISO Inferred from Sequence Orthology more info
is_active_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in endosome	ISO Inferred from Sequence Orthology more info
is_active_in glutamatergic synapse	ISO Inferred from Sequence Orthology more info
located_in intercalated disc	ISO Inferred from Sequence Orthology more info
part_of inward rectifying potassium channel	IDA Inferred from Direct Assay more info	PubMed
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 neuronal cell body	ISO Inferred from Sequence Orthology more info
located_in nuclear envelope	ISO Inferred from Sequence Orthology more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
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 presynaptic membrane	ISO Inferred from Sequence Orthology more info
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 11

Names: inward rectifier K(+) channel Kir6.2

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_001204411.2 → NP_001191340.1 ATP-sensitive inward rectifier potassium channel 11 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.

Source sequence(s)

AC115036

UniProtKB/TrEMBL

Q8CCI6

Related

ENSMUSP00000136002.3, ENSMUST00000180081.3

Conserved Domains (1) summary

cl21560
Location:1 → 269

Ion_trans_2; Ion channel
NM_001412604.1 → NP_001399533.1 ATP-sensitive inward rectifier potassium channel 11 isoform 3 precursor

Status: VALIDATED

Source sequence(s)

AC115036
NM_010602.4 → NP_034732.1 ATP-sensitive inward rectifier potassium channel 11 isoform 1

See identical proteins and their annotated locations for NP_034732.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AC115036

Consensus CDS

CCDS21274.1

UniProtKB/Swiss-Prot

Q61743, Q9QX21

UniProtKB/TrEMBL

Q8CCI6

Related

ENSMUSP00000147439.2, ENSMUST00000211674.2

Conserved Domains (2) summary

pfam01007
Location:36 → 174

IRK; Inward rectifier potassium channel

pfam17655
Location:181 → 354

IRK_C; Inward rectifier potassium channel C-terminal domain