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ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2)

Identity

Alias_namesMHP2
migraine, hemiplegic 2
ATPase, Na?? transporting, alpha 2 () polypeptide
ATPase, Na?? transporting, alpha 2 polypeptide
Alias_symbol (synonym)FHM2
Other alias
HGNC (Hugo) ATP1A2
LocusID (NCBI) 477
Atlas_Id 53630
Location 1q23.2  [Link to chromosome band 1q23]
Location_base_pair Starts at 160085520 and ends at 160113374 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
DYNC1H1 (14q32.31) / ATP1A2 (1q23.2)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)ATP1A2   800
LRG (Locus Reference Genomic)LRG_6
Cards
Entrez_Gene (NCBI)ATP1A2  477  ATPase Na+/K+ transporting subunit alpha 2
AliasesFHM2; MHP2
GeneCards (Weizmann)ATP1A2
Ensembl hg19 (Hinxton)ENSG00000018625 [Gene_View]  chr1:160085520-160113374 [Contig_View]  ATP1A2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000018625 [Gene_View]  chr1:160085520-160113374 [Contig_View]  ATP1A2 [Vega]
ICGC DataPortalENSG00000018625
TCGA cBioPortalATP1A2
AceView (NCBI)ATP1A2
Genatlas (Paris)ATP1A2
WikiGenes477
SOURCE (Princeton)ATP1A2
Genetics Home Reference (NIH)ATP1A2
Genomic and cartography
GoldenPath hg19 (UCSC)ATP1A2  -     chr1:160085520-160113374 +  1q23.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ATP1A2  -     1q23.2   [Description]    (hg38-Dec_2013)
EnsemblATP1A2 - 1q23.2 [CytoView hg19]  ATP1A2 - 1q23.2 [CytoView hg38]
Mapping of homologs : NCBIATP1A2 [Mapview hg19]  ATP1A2 [Mapview hg38]
OMIM104290   182340   602481   
Gene and transcription
Genbank (Entrez)AB018321 AK091617 AK124581 AK126573 AK295048
RefSeq transcript (Entrez)NM_000702
RefSeq genomic (Entrez)NC_000001 NC_018912 NG_008014 NT_004487 NW_004929293
Consensus coding sequences : CCDS (NCBI)ATP1A2
Cluster EST : UnigeneHs.34114 [ NCBI ]
CGAP (NCI)Hs.34114
Alternative Splicing GalleryENSG00000018625
Gene ExpressionATP1A2 [ NCBI-GEO ]   ATP1A2 [ EBI - ARRAY_EXPRESS ]   ATP1A2 [ SEEK ]   ATP1A2 [ MEM ]
Gene Expression Viewer (FireBrowse)ATP1A2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)477
GTEX Portal (Tissue expression)ATP1A2
Protein : pattern, domain, 3D structure
UniProt/SwissProtP50993   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP50993  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP50993
Splice isoforms : SwissVarP50993
Catalytic activity : Enzyme3.6.3.9 [ Enzyme-Expasy ]   3.6.3.93.6.3.9 [ IntEnz-EBI ]   3.6.3.9 [ BRENDA ]   3.6.3.9 [ KEGG ]   
PhosPhoSitePlusP50993
Domaine pattern : Prosite (Expaxy)ATPASE_E1_E2 (PS00154)   
Domains : Interpro (EBI)ATPase_P-typ_cation-transptr_C    ATPase_P-typ_cation-transptr_N    ATPase_P-typ_cyto_domN    ATPase_P-typ_P_site    ATPase_P-typ_TM_dom    ATPase_P-typ_transduc_dom_A    HAD-like_dom    P-type_ATPase_IIC    P_typ_ATPase   
Domain families : Pfam (Sanger)Cation_ATPase_C (PF00689)    Cation_ATPase_N (PF00690)    E1-E2_ATPase (PF00122)   
Domain families : Pfam (NCBI)pfam00689    pfam00690    pfam00122   
Domain families : Smart (EMBL)Cation_ATPase_N (SM00831)  
Conserved Domain (NCBI)ATP1A2
DMDM Disease mutations477
Blocks (Seattle)ATP1A2
SuperfamilyP50993
Human Protein AtlasENSG00000018625
Peptide AtlasP50993
HPRD01665
IPIIPI00003021   IPI00911028   IPI00908591   IPI00909069   IPI00976688   IPI00640401   
Protein Interaction databases
DIP (DOE-UCLA)P50993
IntAct (EBI)P50993
FunCoupENSG00000018625
BioGRIDATP1A2
STRING (EMBL)ATP1A2
ZODIACATP1A2
Ontologies - Pathways
QuickGOP50993
Ontology : AmiGOneurotransmitter uptake  regulation of the force of heart contraction  regulation of respiratory gaseous exchange by neurological system process  sodium:potassium-exchanging ATPase activity  sodium:potassium-exchanging ATPase activity  sodium:potassium-exchanging ATPase activity  protein binding  ATP binding  cytoplasm  endosome  cytosol  plasma membrane  plasma membrane  sodium:potassium-exchanging ATPase complex  sodium:potassium-exchanging ATPase complex  caveola  potassium ion transport  sodium ion transport  cellular sodium ion homeostasis  regulation of smooth muscle contraction  regulation of striated muscle contraction  drug binding  regulation of blood pressure  adult locomotory behavior  visual learning  potassium ion import  establishment or maintenance of transmembrane electrochemical gradient  establishment or maintenance of transmembrane electrochemical gradient  establishment or maintenance of transmembrane electrochemical gradient  regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion  intercalated disc  ATP hydrolysis coupled proton transport  membrane  ATPase activity  regulation of vasoconstriction  cellular potassium ion homeostasis  cellular potassium ion homeostasis  T-tubule  potassium ion binding  sodium ion binding  ion transmembrane transport  response to nicotine  sodium ion export from cell  locomotion  dendritic spine  myelin sheath  intracellular membrane-bounded organelle  negative regulation of heart contraction  negative regulation of striated muscle contraction  ATP metabolic process  chaperone binding  negative regulation of cytosolic calcium ion concentration  regulation of glutamate uptake involved in transmission of nerve impulse  regulation of synaptic transmission, glutamatergic  relaxation of cardiac muscle  cardiac muscle contraction  cellular response to mechanical stimulus  cellular response to steroid hormone stimulus  regulation of cardiac muscle cell contraction  membrane repolarization  membrane depolarization during cardiac muscle cell action potential  cell communication by electrical coupling involved in cardiac conduction  negative regulation of calcium ion transmembrane transport  negative regulation of calcium:sodium antiporter activity  response to glycoside  response to glycoside  extracellular vesicle  regulation of cardiac conduction  steroid hormone binding  potassium ion import across plasma membrane  
Ontology : EGO-EBIneurotransmitter uptake  regulation of the force of heart contraction  regulation of respiratory gaseous exchange by neurological system process  sodium:potassium-exchanging ATPase activity  sodium:potassium-exchanging ATPase activity  sodium:potassium-exchanging ATPase activity  protein binding  ATP binding  cytoplasm  endosome  cytosol  plasma membrane  plasma membrane  sodium:potassium-exchanging ATPase complex  sodium:potassium-exchanging ATPase complex  caveola  potassium ion transport  sodium ion transport  cellular sodium ion homeostasis  regulation of smooth muscle contraction  regulation of striated muscle contraction  drug binding  regulation of blood pressure  adult locomotory behavior  visual learning  potassium ion import  establishment or maintenance of transmembrane electrochemical gradient  establishment or maintenance of transmembrane electrochemical gradient  establishment or maintenance of transmembrane electrochemical gradient  regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion  intercalated disc  ATP hydrolysis coupled proton transport  membrane  ATPase activity  regulation of vasoconstriction  cellular potassium ion homeostasis  cellular potassium ion homeostasis  T-tubule  potassium ion binding  sodium ion binding  ion transmembrane transport  response to nicotine  sodium ion export from cell  locomotion  dendritic spine  myelin sheath  intracellular membrane-bounded organelle  negative regulation of heart contraction  negative regulation of striated muscle contraction  ATP metabolic process  chaperone binding  negative regulation of cytosolic calcium ion concentration  regulation of glutamate uptake involved in transmission of nerve impulse  regulation of synaptic transmission, glutamatergic  relaxation of cardiac muscle  cardiac muscle contraction  cellular response to mechanical stimulus  cellular response to steroid hormone stimulus  regulation of cardiac muscle cell contraction  membrane repolarization  membrane depolarization during cardiac muscle cell action potential  cell communication by electrical coupling involved in cardiac conduction  negative regulation of calcium ion transmembrane transport  negative regulation of calcium:sodium antiporter activity  response to glycoside  response to glycoside  extracellular vesicle  regulation of cardiac conduction  steroid hormone binding  potassium ion import across plasma membrane  
Pathways : KEGGCardiac muscle contraction    Adrenergic signaling in cardiomyocytes    Insulin secretion    Thyroid hormone synthesis    Thyroid hormone signaling pathway    Aldosterone-regulated sodium reabsorption    Endocrine and other factor-regulated calcium reabsorption    Proximal tubule bicarbonate reclamation    Salivary secretion    Gastric acid secretion    Pancreatic secretion    Carbohydrate digestion and absorption    Protein digestion and absorption    Bile secretion    Mineral absorption   
NDEx NetworkATP1A2
Atlas of Cancer Signalling NetworkATP1A2
Wikipedia pathwaysATP1A2
Orthology - Evolution
OrthoDB477
GeneTree (enSembl)ENSG00000018625
Phylogenetic Trees/Animal Genes : TreeFamATP1A2
HOVERGENP50993
HOGENOMP50993
Homologs : HomoloGeneATP1A2
Homology/Alignments : Family Browser (UCSC)ATP1A2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerATP1A2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ATP1A2
dbVarATP1A2
ClinVarATP1A2
1000_GenomesATP1A2 
Exome Variant ServerATP1A2
ExAC (Exome Aggregation Consortium)ATP1A2 (select the gene name)
Genetic variants : HAPMAP477
Genomic Variants (DGV)ATP1A2 [DGVbeta]
DECIPHER (Syndromes)1:160085520-160113374  ENSG00000018625
CONAN: Copy Number AnalysisATP1A2 
Mutations
ICGC Data PortalATP1A2 
TCGA Data PortalATP1A2 
Broad Tumor PortalATP1A2
OASIS PortalATP1A2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICATP1A2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDATP1A2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
BioMutasearch ATP1A2
DgiDB (Drug Gene Interaction Database)ATP1A2
DoCM (Curated mutations)ATP1A2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ATP1A2 (select a term)
intoGenATP1A2
Cancer3DATP1A2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM104290    182340    602481   
Orphanet748    1031   
MedgenATP1A2
Genetic Testing Registry ATP1A2
NextProtP50993 [Medical]
TSGene477
GENETestsATP1A2
Huge Navigator ATP1A2 [HugePedia]
snp3D : Map Gene to Disease477
BioCentury BCIQATP1A2
ClinGenATP1A2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD477
Chemical/Pharm GKB GenePA30796
Clinical trialATP1A2
Miscellaneous
canSAR (ICR)ATP1A2 (select the gene name)
Probes
Litterature
PubMed123 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineATP1A2
EVEXATP1A2
GoPubMedATP1A2
iHOPATP1A2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Mar 30 14:53:23 CEST 2017

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