ATP1A2

ATP1A2
Dynodwyr
Cyfenwau	ATP1A2, FHM2, MHP2, ATPase Na+/K+ transporting subunit alpha 2, DEE98, FARIMPD
Dynodwyr allanol	OMIM: 182340 HomoloGene: 47947 GeneCards: ATP1A2
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • steroid hormone binding • nucleotide binding • chaperone binding • potassium ion binding • sodium ion binding • P-type sodium:potassium-exchanging transporter activity • metal ion binding • ATPase-coupled cation transmembrane transporter activity • ATPase activity • GO:0001948, GO:0016582 protein binding • hydrolase activity • ATP binding • P-type potassium transmembrane transporter activity Cydrannau o'r gell • cytoplasm • extracellular vesicle • integral component of membrane • endosome • bilen • intercalated disc • T-tubule • myelin sheath • Cellbilen • dendritic spine • synapse • sodium:potassium-exchanging ATPase complex • caveola • neuron projection • sarcolemma Prosesau biolegol • visual learning • cellular response to steroid hormone stimulus • regulation of muscle contraction • regulation of cardiac conduction • cardiac muscle contraction • regulation of smooth muscle contraction • sodium ion transport • regulation of the force of heart contraction • regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion • negative regulation of heart contraction • cellular sodium ion homeostasis • adult locomotory behavior • sodium ion export across plasma membrane • negative regulation of striated muscle contraction • cell communication by electrical coupling involved in cardiac conduction • response to nicotine • response to glycoside • cludo ïon • GO:0097301 cellular potassium ion homeostasis • regulation of blood pressure • regulation of respiratory gaseous exchange by nervous system process • potassium ion transport • regulation of cardiac muscle cell contraction • cludo transmembrane rhwng ïonau • ATP metabolic process • cellular response to mechanical stimulus • regulation of striated muscle contraction • membrane repolarization • negative regulation of calcium ion transmembrane transport • regulation of vasoconstriction • neurotransmitter uptake • negative regulation of calcium:sodium antiporter activity • locomotion • regulation of glutamate uptake involved in transmission of nerve impulse • regulation of synaptic transmission, glutamatergic • relaxation of cardiac muscle • membrane depolarization during cardiac muscle cell action potential • negative regulation of cytosolic calcium ion concentration • potassium ion import across plasma membrane • establishment or maintenance of transmembrane electrochemical gradient • GO:0015915 transport Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	477	n/a
Ensembl	ENSG00000018625	n/a
UniProt	P50993	n/a
RefSeq (mRNA)	NM_000702	n/a
RefSeq (protein)	NP_000693	n/a
Lleoliad (UCSC)	n/a	n/a
PubMed search		n/a
Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn ATP1A2 yw ATP1A2 a elwir hefyd yn ATPase Na+/K+ transporting subunit alpha 2 (Saesneg). Segment o DNA yw'r genyn, sy'n amgodio ffwythiant arbennig. Mae'r genyn yma wedi ei leoli ar yr edefyn blaen o gromosom dynol 1, band 1q23.2.

Cyfystyron

Yn aml mae gan enynnau lawer o gyfystyron. Mae hyn oherwydd eu bod yn aml yn cael eu darganfod gan nifer o bobl mewn cyd-destunau gwahanol heb wybod mai'r un genynnau oeddyn nhw. Hefyd mae gan wahanol gymunedau gwyddonol safonau gwahanol ar gyfer enwi genynnau. Dyma restr o gyfystyron ar gyfer y genyn ATP1A2.

• FHM2
• MHP2

Llyfryddiaeth

• "Rescue of Na+ affinity in aspartate 928 mutants of Na+,K+-ATPase by secondary mutation of glutamate 314. ". J Biol Chem. 2015. PMID 25713066.
• "A missense variant of the ATP1A2 gene is associated with a novel phenotype of progressive sensorineural hearing loss associated with migraine. ". Eur J Hum Genet. 2015. PMID 25138102.
• "Evidence for linkage of migraine in Rolandic epilepsy to known 1q23 FHM2 and novel 17q22 genetic loci. ". Genes Brain Behav. 2014. PMID 24286483.
• "Pulmonary arterial hypertension in familial hemiplegic migraine with ATP1A2 channelopathy. ". Eur Respir J. 2014. PMID 24136331.
• "A wide clinical phenotype spectrum in patients with ATP1A2 mutations.". J Child Neurol. 2014. PMID 24097848.