Atp1a2 ATPase, Na+/K+ transporting, alpha 2 polypeptide [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Atp1a2provided by MGI
Official Full Name: ATPase, Na+/K+ transporting, alpha 2 polypeptideprovided by MGI
Primary source: MGI:MGI:88106
See related: Ensembl:ENSMUSG00000007097 AllianceGenome:MGI:88106
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: Atpa-3; mKIAA0778
Summary: Predicted to enable several functions, including ATP binding activity; ATP hydrolysis activity; and alkali metal ion binding activity. Involved in several processes, including cellular response to steroid hormone stimulus; locomotory exploration behavior; and response to auditory stimulus. Acts upstream of or within several processes, including forebrain development; regulation of blood circulation; and regulation of muscle contraction. Located in T-tubule; cell projection; and neuronal cell body. Is expressed in several structures, including genitourinary system; heart; musculature; nervous system; and sensory organ. Used to study familial hemiplegic migraine 2. Human ortholog(s) of this gene implicated in alternating hemiplegia of childhood; benign neonatal seizures; familial hemiplegic migraine 2; hypertension; and migraine with aura. Orthologous to human ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in cerebellum adult (RPKM 126.7), frontal lobe adult (RPKM 118.1) and 14 other tissues See more
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Genomic context

Location:: 1 H3; 1 79.6 cM

Exon count:: 23

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (172099276..172125631, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (172271709..172298064, complement)

Chromosome 1 - NC_000067.7 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?

Targeted ASO-mediated Atp1a2 knockdown in astrocytes reduces SOD1 aggregation and accelerates disease onset in mutant SOD1 mice.
Title: Targeted ASO-mediated Atp1a2 knockdown in astrocytes reduces SOD1 aggregation and accelerates disease onset in mutant SOD1 mice.
Comprehensive analysis identified a reduction in ATP1A2 mediated by ARID3A in abdominal aortic aneurysm.
Title: Comprehensive analysis identified a reduction in ATP1A2 mediated by ARID3A in abdominal aortic aneurysm.
Migraine-Associated Mutation in the Na,K-ATPase Leads to Disturbances in Cardiac Metabolism and Reduced Cardiac Function.
Title: Migraine-Associated Mutation in the Na,K-ATPase Leads to Disturbances in Cardiac Metabolism and Reduced Cardiac Function.
The alpha2-isoform of the Na(+)/K(+)-ATPase protects against pathological remodeling and beta-adrenergic desensitization after myocardial infarction.
Title: The α2-isoform of the Na(+)/K(+)-ATPase protects against pathological remodeling and β-adrenergic desensitization after myocardial infarction.
Expression of alpha2-Na/K-ATPase in C57BL/6J Mice Inner Ear and Its Relationship with Age-related Hearing Loss.
Title: Expression of α2-Na/K-ATPase in C57BL/6J Mice Inner Ear and Its Relationship with Age-related Hearing Loss.
Decreased content of ascorbic acid (vitamin C) in the brain of knockout mouse models of Na+,K+-ATPase-related neurologic disorders.
Title: Decreased content of ascorbic acid (vitamin C) in the brain of knockout mouse models of Na+,K+-ATPase-related neurologic disorders.
Astrocytes in Atp1a2-deficient heterozygous mice exhibit hyperactivity after induction of cortical spreading depression.
Title: Astrocytes in Atp1a2-deficient heterozygous mice exhibit hyperactivity after induction of cortical spreading depression.
The alpha2 Na(+)/K(+)-ATPase isoform mediates LPS-induced neuroinflammation.
Title: The α(2) Na(+)/K(+)-ATPase isoform mediates LPS-induced neuroinflammation.
Astrocyte deletion of alpha2-Na/K ATPase triggers episodic motor paralysis in mice via a metabolic pathway.
Title: Astrocyte deletion of α2-Na/K ATPase triggers episodic motor paralysis in mice via a metabolic pathway.
Na(+)/K(+)-ATPase alpha isoform deficiency results in distinct spreading depolarization phenotypes.
Title: Na(+)/K(+)-ATPase α isoform deficiency results in distinct spreading depolarization phenotypes.

Submit: New GeneRIF Correction See all GeneRIFs (44)

Variation

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Alleles

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

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G64926 (e-PCR)
- UniSTS:225843

Atp1a2 (e-PCR), detects polymorphism
- UniSTS:480318

Atp1a2 (e-PCR), detects polymorphism
- UniSTS:141127

AW060654 (e-PCR)
- UniSTS:178518

G42024 (e-PCR)
- UniSTS:105049

G42039 (e-PCR)
- UniSTS:105064

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP binding	ISO Inferred from Sequence Orthology more info
enables ATP hydrolysis activity	ISO Inferred from Sequence Orthology more info
enables ATPase-coupled monoatomic cation transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
enables P-type potassium transmembrane transporter activity	IEA Inferred from Electronic Annotation more info
enables P-type sodium:potassium-exchanging transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables P-type sodium:potassium-exchanging transporter activity	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info
enables potassium ion binding	ISO Inferred from Sequence Orthology 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 protein-folding chaperone binding	ISO Inferred from Sequence Orthology more info
enables sodium ion binding	ISO Inferred from Sequence Orthology more info
enables steroid binding	ISO Inferred from Sequence Orthology more info
enables steroid hormone binding	ISO Inferred from Sequence Orthology more info
enables transporter activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in ATP metabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within L-ascorbic acid metabolic process	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within adult locomotory behavior	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within amygdala development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within behavioral fear response	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within blood circulation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in cellular response to mechanical stimulus	ISO Inferred from Sequence Orthology more info
involved_in cellular response to steroid hormone stimulus	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to steroid hormone stimulus	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within fear response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intracellular potassium ion homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in intracellular potassium ion homeostasis	ISO Inferred from Sequence Orthology more info
involved_in intracellular sodium ion homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in intracellular sodium ion homeostasis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within locomotion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in locomotory exploration behavior	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within membrane depolarization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in monoatomic cation transmembrane transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within monoatomic ion transport	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of calcium ion transmembrane transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of cytosolic calcium ion concentration	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of heart contraction	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of striated muscle contraction	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuronal action potential propagation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neurotransmitter uptake	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within olfactory cortex development	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
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 proton transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in proton transmembrane transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of blood pressure	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of cardiac muscle cell contraction	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of muscle contraction	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of respiratory gaseous exchange by nervous system process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of smooth muscle contraction	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of striated muscle contraction	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of the force of heart contraction	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of vasoconstriction	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within regulation of vasoconstriction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to auditory stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to glycoside	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to glycoside	ISO Inferred from Sequence Orthology more info
involved_in response to nicotine	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within response to potassium ion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sodium ion export across plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in sodium ion export across plasma membrane	ISO Inferred from Sequence Orthology more info
involved_in sodium ion transmembrane transport	ISO Inferred from Sequence Orthology more info
involved_in sodium ion transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within visual learning	IMP Inferred from Mutant Phenotype 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 caveola	ISO Inferred from Sequence Orthology more info
is_active_in cell projection	IBA Inferred from Biological aspect of Ancestor more info
located_in cell projection	IDA Inferred from Direct Assay more info	PubMed
is_active_in cell surface	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in dendritic spine	ISO Inferred from Sequence Orthology more info
is_active_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in endosome	ISO Inferred from Sequence Orthology more info
located_in intercalated disc	ISO Inferred from Sequence Orthology more info
located_in membrane	ISO Inferred from Sequence Orthology more info
located_in myelin sheath	HDA more info	PubMed
located_in neuronal cell body	IDA Inferred from Direct Assay more info	PubMed
located_in organelle membrane	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	ISO Inferred from Sequence Orthology more info
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed
located_in sarcolemma	IDA Inferred from Direct Assay more info	PubMed
located_in sarcolemma	ISO Inferred from Sequence Orthology more info
part_of sodium:potassium-exchanging ATPase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of sodium:potassium-exchanging ATPase complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: sodium/potassium-transporting ATPase subunit alpha-2

Names: Na(+)/K(+) ATPase alpha(+) subunit; Na(+)/K(+) ATPase alpha-2 subunit; sodium pump subunit alpha-2

NP_848492.1

EC 7.2.2.13

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_178405.3 → NP_848492.1 sodium/potassium-transporting ATPase subunit alpha-2

See identical proteins and their annotated locations for NP_848492.1

Status: VALIDATED

Source sequence(s)

AC087061, AK147331, BY780072

Consensus CDS

CCDS35782.1

UniProtKB/Swiss-Prot

Q6PIE5, Q80UZ8

UniProtKB/TrEMBL

Q3UHK5, Q6ZQ49

Related

ENSMUSP00000083077.5, ENSMUST00000085913.11

Conserved Domains (1) summary

TIGR01106
Location:30 → 1020

ATPase-IIC_X-K; sodium or proton efflux -- potassium uptake antiporter, P-type ATPase, alpha subunit