ATP1A2

Last updated
ATP1A2
Protein ATP1A2 PDB 1q3i.png
Identifiers
Aliases ATP1A2 , FHM2, MHP2, ATPase Na+/K+ transporting subunit alpha 2, DEE98, FARIMPD
External IDs OMIM: 182340 MGI: 88106 HomoloGene: 47947 GeneCards: ATP1A2
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000702

NM_178405

RefSeq (protein)

NP_000693

NP_848492

Location (UCSC) Chr 1: 160.12 – 160.14 Mb Chr 1: 172.1 – 172.13 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Sodium/potassium-transporting ATPase subunit alpha-2 is a protein which in humans is encoded by the ATP1A2 gene. [5] [6]

Contents

Function

The protein encoded by this gene belongs to the family of P-type cation transport ATPases and to the subfamily of Na+/K+-ATPases. Na+/K+-ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+-ATPase is encoded by multiple genes. This gene encodes an alpha 2 subunit. [6]

Clinical significance

Mutations in ATP1A2 have been found to cause hemiplegic migraine and epilepsy in an autosomal dominant fashion, sometimes co-occurring in families. [7] Additionally, it has been associated with an unusual form of migraine called alternating hemiplegia of childhood. [8] [9] [10]

Related Research Articles

Familial hemiplegic migraine (FHM) is an autosomal dominant type of hemiplegic migraine that typically includes weakness of half the body which can last for hours, days, or weeks. It can be accompanied by other symptoms, such as ataxia, coma, and paralysis. Migraine attacks may be provoked by minor head trauma. Some cases of minor head trauma in patients with hemiplegic migraine can develop into delayed cerebral edema, a life-threatening medical emergency. Clinical overlap occurs in some FHM patients with episodic ataxia type 2 and spinocerebellar ataxia type 6, benign familial infantile epilepsy, and alternating hemiplegia of childhood.

Ca<sub>v</sub>2.1 Protein-coding gene in the species Homo sapiens

Cav2.1, also called the P/Q voltage-dependent calcium channel, is a calcium channel found mainly in the brain. Specifically, it is found on the presynaptic terminals of neurons in the brain and cerebellum. Cav2.1 plays an important role in controlling the release of neurotransmitters between neurons. It is composed of multiple subunits, including alpha-1, beta, alpha-2/delta, and gamma subunits. The alpha-1 subunit is the pore-forming subunit, meaning that the calcium ions flow through it. Different kinds of calcium channels have different isoforms (versions) of the alpha-1 subunit. Cav2.1 has the alpha-1A subunit, which is encoded by the CACNA1A gene. Mutations in CACNA1A have been associated with various neurologic disorders, including familial hemiplegic migraine, episodic ataxia type 2, and spinocerebellar ataxia type 6.

SCN1A Protein-coding gene in the species Homo sapiens

Sodium channel protein type 1 subunit alpha (SCN1A), is a protein which in humans is encoded by the SCN1A gene.

ATPase, Na<sup>+</sup>/K<sup>+</sup> transporting, alpha 1 Protein-coding gene in the species Homo sapiens

Sodium/potassium-transporting ATPase subunit alpha-1 is an enzyme that in humans is encoded by the ATP1A1 gene.

<span class="mw-page-title-main">Alpha-actinin-4</span> Protein-coding gene in the species Homo sapiens

Alpha-actinin-4 is a protein that in humans is encoded by the ACTN4 gene.

<span class="mw-page-title-main">Electrogenic sodium bicarbonate cotransporter 1</span> Protein-coding gene in the species Homo sapiens

Electrogenic sodium bicarbonate cotransporter 1, sodium bicarbonate cotransporter is a membrane transport protein that in humans is encoded by the SLC4A4 gene.

<span class="mw-page-title-main">GNG2</span> Protein-coding gene in the species Homo sapiens

Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-2 is a protein that in humans is encoded by the GNG2 gene.

SCN2A Protein-coding gene in the species Homo sapiens

Sodium channel protein type 2 subunit alpha, is a protein that in humans is encoded by the SCN2A gene. Functional sodium channels contain an ion conductive alpha subunit and one or more regulatory beta subunits. Sodium channels which contain sodium channel protein type 2 subunit alpha are sometimes called Nav1.2 channels.

<span class="mw-page-title-main">PRKCSH</span> Protein-coding gene in the species Homo sapiens

Glucosidase 2 subunit beta is an enzyme that in humans is encoded by the PRKCSH gene.

<span class="mw-page-title-main">ADD2</span> Protein-coding gene in the species Homo sapiens

Beta-adducin is a protein that in humans is encoded by the ADD2 gene.

<span class="mw-page-title-main">ATP1B1</span> Protein-coding gene in the species Homo sapiens

Sodium/potassium-transporting ATPase subunit beta-1 is an enzyme that in humans is encoded by the ATP1B1 gene.

<span class="mw-page-title-main">ATP1A3</span> Protein-coding gene in the species Homo sapiens

Sodium/potassium-transporting ATPase subunit alpha-3 is an enzyme that in humans is encoded by the ATP1A3 gene.

<span class="mw-page-title-main">ATPase, H+ transporting, lysosomal V0 subunit a1</span> Protein-coding gene in the species Homo sapiens

V-type proton ATPase 116 kDa subunit a isoform 1 is an enzyme that in humans is encoded by the ATP6V0A1 gene.

<span class="mw-page-title-main">ATP1A4</span> Protein-coding gene in the species Homo sapiens

Sodium/potassium-transporting ATPase subunit alpha-4 is an enzyme that in humans is encoded by the ATP1A4 gene.

<span class="mw-page-title-main">FXYD2</span> Protein-coding gene in the species Homo sapiens

Sodium/potassium-transporting ATPase gamma chain is a protein that in humans is encoded by the FXYD2 gene.

<span class="mw-page-title-main">SCN1B</span> Protein-coding gene in the species Homo sapiens

Sodium channel subunit beta-1 is a protein that in humans is encoded by the SCN1B gene.

<span class="mw-page-title-main">ATP12A</span> Protein-coding gene in the species Homo sapiens

Potassium-transporting ATPase alpha chain 2 is a protein that in humans is encoded by the ATP12A gene.

<span class="mw-page-title-main">ATP5F1</span> Protein-coding gene in the species Homo sapiens

ATP synthase subunit b, mitochondrial is an enzyme that in humans is encoded by the ATP5PB gene.

<span class="mw-page-title-main">SCN3A</span> Protein-coding gene in humans

Sodium channel, voltage-gated, type III, alpha subunit (SCN3A) is a protein that in humans is encoded by the SCN3A gene.

<span class="mw-page-title-main">ATP1B3</span> Protein-coding gene in the species Homo sapiens

Sodium/potassium-transporting ATPase subunit beta-3 is an enzyme that in humans is encoded by the ATP1B3 gene. ATP1B3 has also been designated as CD298.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000018625 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000007097 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. "ATP1A2 - Sodium/potassium-transporting ATPase subunit alpha-2 precursor - Homo sapiens (Human) - ATP1A2 gene & protein". www.uniprot.org. Retrieved 9 April 2022.
  6. 1 2 "Entrez Gene: ATP1A2 ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide".
  7. Papandreou A, Danti FR, Spaull R, Leuzzi V, Mctague A, Kurian MA (February 2020). "The expanding spectrum of movement disorders in genetic epilepsies" (PDF). Developmental Medicine and Child Neurology. 62 (2): 178–191. doi:10.1111/dmcn.14407. PMID   31784983. S2CID   208498567.
  8. Kanavakis E, Xaidara A, Papathanasiou-Klontza D, Papadimitriou A, Velentza S, Youroukos S (December 2003). "Alternating hemiplegia of childhood: a syndrome inherited with an autosomal dominant trait". Developmental Medicine and Child Neurology. 45 (12): 833–6. doi:10.1017/S0012162203001543. PMID   14667076.[ dead link ]
  9. Swoboda KJ, Kanavakis E, Xaidara A, Johnson JE, Leppert MF, Schlesinger-Massart MB, et al. (June 2004). "Alternating hemiplegia of childhood or familial hemiplegic migraine? A novel ATP1A2 mutation". Annals of Neurology. 55 (6): 884–7. doi:10.1002/ana.20134. PMID   15174025. S2CID   13430399.
  10. Bassi MT, Bresolin N, Tonelli A, Nazos K, Crippa F, Baschirotto C, et al. (August 2004). "A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood". Journal of Medical Genetics. 41 (8): 621–8. doi:10.1136/jmg.2003.017863. PMC   1735877 . PMID   15286158.

Further reading