Atlas of Genetics and Cytogenetics in Oncology and Haematology

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ATP2A2 (ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2)

Identity

Alias_namesATP2B
DAR
ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
Alias_symbol (synonym)SERCA2
Other aliasDD
HGNC (Hugo) ATP2A2
LocusID (NCBI) 488
Atlas_Id 723
Location 12q24.11  [Link to chromosome band 12q24]
Location_base_pair Starts at 110281227 and ends at 110351092 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ADGRE5 (19p13.12) / ATP2A2 (12q24.11)ATP2A2 (12q24.11) / AAAS (12q13.13)ATP2A2 (12q24.11) / ATP2A2 (12q24.11)
ATP2A2 (12q24.11) / C12orf49 (12q24.22)ATP2A2 (12q24.11) / CDK18 (1q32.1)ATP2A2 (12q24.11) / EIF6 (20q11.22)
ATP2A2 (12q24.11) / EP400 (12q24.33)ATP2A2 (12q24.11) / IFT81 (12q24.11)ATP2A2 (12q24.11) / MURC (9q31.1)
ATP2A2 (12q24.11) / WNT9B (17q21.32)EZH2 (7q36.1) / ATP2A2 (12q24.11)HELZ (17q24.2) / ATP2A2 (12q24.11)
NDRG1 (8q24.22) / ATP2A2 (12q24.11)NIPBL (5p13.2) / ATP2A2 (12q24.11)PRKCA (17q24.2) / ATP2A2 (12q24.11)
SYT4 (18q12.3) / ATP2A2 (12q24.11)UBE2Q1 (1q21.3) / ATP2A2 (12q24.11)ATP2A2 12q24.11 / C12orf49 12q24.22
ATP2A2 12q24.11 / EP400 12q24.33ATP2A2 12q24.11 / IFT81 12q24.11NIPBL 5p13.2 / ATP2A2 12q24.11

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

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 4 ]
  t(5;12)(p13;q24) NIPBL/ATP2A2
ATP2A2/C12orf49 (12q24)
ATP2A2/EP400 (12q24)
ATP2A2/IFT81 (12q24)

External links

Nomenclature
HGNC (Hugo)ATP2A2   812
Cards
Entrez_Gene (NCBI)ATP2A2  488  ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2
AliasesATP2B; DAR; DD; SERCA2
GeneCards (Weizmann)ATP2A2
Ensembl hg19 (Hinxton)ENSG00000174437 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000174437 [Gene_View]  ENSG00000174437 [Sequence]  chr12:110281227-110351092 [Contig_View]  ATP2A2 [Vega]
ICGC DataPortalENSG00000174437
TCGA cBioPortalATP2A2
AceView (NCBI)ATP2A2
Genatlas (Paris)ATP2A2
WikiGenes488
SOURCE (Princeton)ATP2A2
Genetics Home Reference (NIH)ATP2A2
Genomic and cartography
GoldenPath hg38 (UCSC)ATP2A2  -     chr12:110281227-110351092 +  12q24.11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ATP2A2  -     12q24.11   [Description]    (hg19-Feb_2009)
GoldenPathATP2A2 - 12q24.11 [CytoView hg19]  ATP2A2 - 12q24.11 [CytoView hg38]
ImmunoBaseENSG00000174437
Mapping of homologs : NCBIATP2A2 [Mapview hg19]  ATP2A2 [Mapview hg38]
OMIM101900   108740   124200   
Gene and transcription
Genbank (Entrez)AK000300 AK095382 AK293877 AL117505 AY186578
RefSeq transcript (Entrez)NM_001135765 NM_001681 NM_170665
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ATP2A2
Cluster EST : UnigeneHs.506759 [ NCBI ]
CGAP (NCI)Hs.506759
Alternative Splicing GalleryENSG00000174437
Gene ExpressionATP2A2 [ NCBI-GEO ]   ATP2A2 [ EBI - ARRAY_EXPRESS ]   ATP2A2 [ SEEK ]   ATP2A2 [ MEM ]
Gene Expression Viewer (FireBrowse)ATP2A2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)488
GTEX Portal (Tissue expression)ATP2A2
Human Protein AtlasENSG00000174437-ATP2A2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP16615   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP16615  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP16615
Splice isoforms : SwissVarP16615
Catalytic activity : Enzyme3.6.3.8 [ Enzyme-Expasy ]   3.6.3.83.6.3.8 [ IntEnz-EBI ]   3.6.3.8 [ BRENDA ]   3.6.3.8 [ KEGG ]   
PhosPhoSitePlusP16615
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_dom_N    ATPase_P-typ_P_site    ATPase_P-typ_TM_dom_sf    ATPase_P-typ_transduc_dom_A_sf    HAD-like_sf    HAD_sf    P-type_ATPase_IIA    P_typ_ATPase   
Domain families : Pfam (Sanger)Cation_ATPase_C (PF00689)    Cation_ATPase_N (PF00690)   
Domain families : Pfam (NCBI)pfam00689    pfam00690   
Domain families : Smart (EMBL)Cation_ATPase_N (SM00831)  
Conserved Domain (NCBI)ATP2A2
DMDM Disease mutations488
Blocks (Seattle)ATP2A2
SuperfamilyP16615
Human Protein Atlas [tissue]ENSG00000174437-ATP2A2 [tissue]
Peptide AtlasP16615
HPRD00161
IPIIPI00219078   IPI00177817   IPI00969023   IPI00914019   IPI00747443   IPI01022616   IPI01021755   IPI01022258   IPI01026572   IPI01022709   
Protein Interaction databases
DIP (DOE-UCLA)P16615
IntAct (EBI)P16615
FunCoupENSG00000174437
BioGRIDATP2A2
STRING (EMBL)ATP2A2
ZODIACATP2A2
Ontologies - Pathways
QuickGOP16615
Ontology : AmiGOregulation of the force of heart contraction  skeletal muscle contraction  calcium-transporting ATPase activity  calcium-transporting ATPase activity  calcium ion binding  protein binding  ATP binding  nucleoplasm  endoplasmic reticulum  endoplasmic reticulum membrane  endoplasmic reticulum membrane  integral component of plasma membrane  cellular calcium ion homeostasis  ER-nucleus signaling pathway  organelle organization  cell adhesion  epidermis development  proton-exporting ATPase activity, phosphorylative mechanism  positive regulation of heart rate  regulation of cardiac muscle contraction by calcium ion signaling  vesicle membrane  transition between fast and slow fiber  cardiac muscle hypertrophy in response to stress  membrane  sarcoplasmic reticulum  enzyme binding  platelet dense tubular network membrane  extrinsic component of cytoplasmic side of plasma membrane  lutropin-choriogonadotropic hormone receptor binding  endoplasmic reticulum calcium ion homeostasis  positive regulation of endoplasmic reticulum calcium ion concentration  response to lipopolysaccharide  protein-containing complex  sarcoplasmic reticulum membrane  sarcoplasmic reticulum membrane  T-tubule organization  ion transmembrane transport  cellular response to oxidative stress  cellular response to heat  response to endoplasmic reticulum stress  S100 protein binding  negative regulation of heart contraction  perinuclear region of cytoplasm  relaxation of cardiac muscle  apical ectoplasmic specialization  sarcoplasmic reticulum calcium ion transport  calcium ion transmembrane transport  calcium ion transmembrane transport  regulation of cardiac muscle cell membrane potential  regulation of cardiac muscle cell membrane potential  regulation of cardiac muscle cell membrane potential  calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential  calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential  calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential  calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential  ribbon synapse  regulation of cardiac muscle cell action potential involved in regulation of contraction  plasma membrane bounded cell projection  proton transmembrane transport  regulation of calcium ion-dependent exocytosis of neurotransmitter  calcium ion transport from cytosol to endoplasmic reticulum  regulation of cardiac conduction  calcium ion import into sarcoplasmic reticulum  calcium ion import into sarcoplasmic reticulum  
Ontology : EGO-EBIregulation of the force of heart contraction  skeletal muscle contraction  calcium-transporting ATPase activity  calcium-transporting ATPase activity  calcium ion binding  protein binding  ATP binding  nucleoplasm  endoplasmic reticulum  endoplasmic reticulum membrane  endoplasmic reticulum membrane  integral component of plasma membrane  cellular calcium ion homeostasis  ER-nucleus signaling pathway  organelle organization  cell adhesion  epidermis development  proton-exporting ATPase activity, phosphorylative mechanism  positive regulation of heart rate  regulation of cardiac muscle contraction by calcium ion signaling  vesicle membrane  transition between fast and slow fiber  cardiac muscle hypertrophy in response to stress  membrane  sarcoplasmic reticulum  enzyme binding  platelet dense tubular network membrane  extrinsic component of cytoplasmic side of plasma membrane  lutropin-choriogonadotropic hormone receptor binding  endoplasmic reticulum calcium ion homeostasis  positive regulation of endoplasmic reticulum calcium ion concentration  response to lipopolysaccharide  protein-containing complex  sarcoplasmic reticulum membrane  sarcoplasmic reticulum membrane  T-tubule organization  ion transmembrane transport  cellular response to oxidative stress  cellular response to heat  response to endoplasmic reticulum stress  S100 protein binding  negative regulation of heart contraction  perinuclear region of cytoplasm  relaxation of cardiac muscle  apical ectoplasmic specialization  sarcoplasmic reticulum calcium ion transport  calcium ion transmembrane transport  calcium ion transmembrane transport  regulation of cardiac muscle cell membrane potential  regulation of cardiac muscle cell membrane potential  regulation of cardiac muscle cell membrane potential  calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential  calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential  calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential  calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential  ribbon synapse  regulation of cardiac muscle cell action potential involved in regulation of contraction  plasma membrane bounded cell projection  proton transmembrane transport  regulation of calcium ion-dependent exocytosis of neurotransmitter  calcium ion transport from cytosol to endoplasmic reticulum  regulation of cardiac conduction  calcium ion import into sarcoplasmic reticulum  calcium ion import into sarcoplasmic reticulum  
Pathways : KEGGCalcium signaling pathway    Cardiac muscle contraction    Adrenergic signaling in cardiomyocytes    Thyroid hormone signaling pathway    Pancreatic secretion    Alzheimer's disease    Hypertrophic cardiomyopathy (HCM)    Arrhythmogenic right ventricular cardiomyopathy (ARVC)    Dilated cardiomyopathy   
NDEx NetworkATP2A2
Atlas of Cancer Signalling NetworkATP2A2
Wikipedia pathwaysATP2A2
Orthology - Evolution
OrthoDB488
GeneTree (enSembl)ENSG00000174437
Phylogenetic Trees/Animal Genes : TreeFamATP2A2
HOGENOMP16615
Homologs : HomoloGeneATP2A2
Homology/Alignments : Family Browser (UCSC)ATP2A2
Gene fusions - Rearrangements
Fusion : MitelmanATP2A2/C12orf49 [12q24.11/12q24.22]  
Fusion : MitelmanATP2A2/EP400 [12q24.11/12q24.33]  [t(12;12)(q24;q24)]  
Fusion : MitelmanATP2A2/IFT81 [12q24.11/12q24.11]  [t(12;12)(q24;q24)]  
Fusion : MitelmanNIPBL/ATP2A2 [5p13.2/12q24.11]  [t(5;12)(p13;q24)]  
Fusion PortalATP2A2 12q24.11 C12orf49 12q24.22 LUAD
Fusion PortalATP2A2 12q24.11 EP400 12q24.33 LUSC
Fusion PortalATP2A2 12q24.11 IFT81 12q24.11 LUAD
Fusion PortalNIPBL 5p13.2 ATP2A2 12q24.11 LUAD
Fusion Cancer (Beijing)ATP2A2 [12q24.11]  -  IFT81 [12q24.11]  [FUSC003416]  [FUSC003416]
Fusion : QuiverATP2A2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerATP2A2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ATP2A2
dbVarATP2A2
ClinVarATP2A2
1000_GenomesATP2A2 
Exome Variant ServerATP2A2
ExAC (Exome Aggregation Consortium)ENSG00000174437
GNOMAD BrowserENSG00000174437
Varsome BrowserATP2A2
Genetic variants : HAPMAP488
Genomic Variants (DGV)ATP2A2 [DGVbeta]
DECIPHERATP2A2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisATP2A2 
Mutations
ICGC Data PortalATP2A2 
TCGA Data PortalATP2A2 
Broad Tumor PortalATP2A2
OASIS PortalATP2A2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICATP2A2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DATP2A2
Mutations and Diseases : HGMDATP2A2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Mendelian genes
BioMutasearch ATP2A2
DgiDB (Drug Gene Interaction Database)ATP2A2
DoCM (Curated mutations)ATP2A2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ATP2A2 (select a term)
intoGenATP2A2
Cancer3DATP2A2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM101900    108740    124200   
Orphanet323    11177   
DisGeNETATP2A2
MedgenATP2A2
Genetic Testing Registry ATP2A2
NextProtP16615 [Medical]
TSGene488
GENETestsATP2A2
Target ValidationATP2A2
Huge Navigator ATP2A2 [HugePedia]
snp3D : Map Gene to Disease488
BioCentury BCIQATP2A2
ClinGenATP2A2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD488
Chemical/Pharm GKB GenePA71
Clinical trialATP2A2
Miscellaneous
canSAR (ICR)ATP2A2 (select the gene name)
DataMed IndexATP2A2
Probes
Litterature
PubMed254 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineATP2A2
EVEXATP2A2
GoPubMedATP2A2
iHOPATP2A2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Nov 13 17:33:28 CET 2019
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