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ATP2A2 (ATPase, Ca++ transporting, cardiac muscle, slow twitch 2)

Identity

Other namesATP2B
DAR
DD
SERCA2
HGNC (Hugo) ATP2A2
LocusID (NCBI) 488
Location 12q24.11
Location_base_pair Starts at 110719032 and ends at 110788897 bp from pter ( according to hg19-Feb_2009)
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)ATP2A2   812
Cards
Entrez_Gene (NCBI)ATP2A2  488  ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
GeneCards (Weizmann)ATP2A2
Ensembl hg19 (Hinxton)ENSG00000174437 [Gene_View]  chr12:110719032-110788897 [Contig_View]  ATP2A2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000174437 [Gene_View]  chr12:110719032-110788897 [Contig_View]  ATP2A2 [Vega]
ICGC DataPortalENSG00000174437
cBioPortalATP2A2
AceView (NCBI)ATP2A2
Genatlas (Paris)ATP2A2
WikiGenes488
SOURCE (Princeton)ATP2A2
Genomic and cartography
GoldenPath hg19 (UCSC)ATP2A2  -     chr12:110719032-110788897 +  12q24.11   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ATP2A2  -     12q24.11   [Description]    (hg38-Dec_2013)
EnsemblATP2A2 - 12q24.11 [CytoView hg19]  ATP2A2 - 12q24.11 [CytoView hg38]
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)AC_000144 NC_000012 NC_018923 NG_007097 NT_029419 NW_001838062 NW_004929385
Consensus coding sequences : CCDS (NCBI)ATP2A2
Cluster EST : UnigeneHs.506759 [ NCBI ]
CGAP (NCI)Hs.506759
Alternative Splicing : Fast-db (Paris)GSHG0006998
Alternative Splicing GalleryENSG00000174437
Gene ExpressionATP2A2 [ NCBI-GEO ]     ATP2A2 [ SEEK ]   ATP2A2 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP16615 (Uniprot)
NextProtP16615  [Medical]
With graphics : InterProP16615
Splice isoforms : SwissVarP16615 (Swissvar)
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 ]   
Domaine pattern : Prosite (Expaxy)ATPASE_E1_E2 (PS00154)   
Domains : Interpro (EBI)ATPase_P-typ_Ca-transp_IIA    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    Cation_transp_P_typ_ATPase    HAD-like_dom   
Related proteins : CluSTrP16615
Domain families : Pfam (Sanger)Cation_ATPase_C (PF00689)    Cation_ATPase_N (PF00690)    E1-E2_ATPase (PF00122)    Hydrolase (PF00702)   
Domain families : Pfam (NCBI)pfam00689    pfam00690    pfam00122    pfam00702   
Domain families : Smart (EMBL)Cation_ATPase_N (SM00831)  
DMDM Disease mutations488
Blocks (Seattle)P16615
Human Protein AtlasENSG00000174437
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
IntegromeDBATP2A2
STRING (EMBL)ATP2A2
Ontologies - Pathways
QuickGOP16615
Ontology : AmiGOregulation of the force of heart contraction  calcium-transporting ATPase activity  protein binding  ATP binding  endoplasmic reticulum membrane  endoplasmic reticulum membrane  integral component of plasma membrane  transport  cellular calcium ion homeostasis  ER-nucleus signaling pathway  cell adhesion  blood coagulation  protein C-terminus binding  metabolic process  epidermis development  positive regulation of heart rate  membrane  sarcoplasmic reticulum  enzyme binding  platelet dense tubular network membrane  sarcoplasmic reticulum membrane  ion transmembrane transport  intracellular membrane-bounded organelle  S100 protein binding  negative regulation of heart contraction  metal ion binding  transmembrane transport  relaxation of cardiac muscle  sarcoplasmic reticulum calcium ion transport  calcium ion transmembrane transport  calcium ion transmembrane transport  regulation of cardiac muscle cell membrane potential  calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential  
Ontology : EGO-EBIregulation of the force of heart contraction  calcium-transporting ATPase activity  protein binding  ATP binding  endoplasmic reticulum membrane  endoplasmic reticulum membrane  integral component of plasma membrane  transport  cellular calcium ion homeostasis  ER-nucleus signaling pathway  cell adhesion  blood coagulation  protein C-terminus binding  metabolic process  epidermis development  positive regulation of heart rate  membrane  sarcoplasmic reticulum  enzyme binding  platelet dense tubular network membrane  sarcoplasmic reticulum membrane  ion transmembrane transport  intracellular membrane-bounded organelle  S100 protein binding  negative regulation of heart contraction  metal ion binding  transmembrane transport  relaxation of cardiac muscle  sarcoplasmic reticulum calcium ion transport  calcium ion transmembrane transport  calcium ion transmembrane transport  regulation of cardiac muscle cell membrane potential  calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential  
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   
Protein Interaction DatabaseATP2A2
DoCM (Curated mutations)ATP2A2
Wikipedia pathwaysATP2A2
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerATP2A2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ATP2A2
dbVarATP2A2
ClinVarATP2A2
1000_GenomesATP2A2 
Exome Variant ServerATP2A2
SNP (GeneSNP Utah)ATP2A2
SNP : HGBaseATP2A2
Genetic variants : HAPMAPATP2A2
Genomic VariantsATP2A2  ATP2A2 [DGVbeta]
Mutations
ICGC Data PortalENSG00000174437 
Somatic Mutations in Cancer : COSMICATP2A2 
CONAN: Copy Number AnalysisATP2A2 
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
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)12:110719032-110788897
Mutations and Diseases : HGMDATP2A2
OMIM101900    108740    124200   
MedgenATP2A2
NextProtP16615 [Medical]
GENETestsATP2A2
Disease Genetic AssociationATP2A2
Huge Navigator ATP2A2 [HugePedia]  ATP2A2 [HugeCancerGEM]
snp3D : Map Gene to Disease488
DGIdb (Drug Gene Interaction db)ATP2A2
General knowledge
Homologs : HomoloGeneATP2A2
Homology/Alignments : Family Browser (UCSC)ATP2A2
Phylogenetic Trees/Animal Genes : TreeFamATP2A2
Chemical/Protein Interactions : CTD488
Chemical/Pharm GKB GenePA71
Clinical trialATP2A2
Cancer Resource (Charite)ENSG00000174437
Other databases
Probes
Litterature
PubMed171 Pubmed reference(s) in Entrez
CoreMineATP2A2
GoPubMedATP2A2
iHOPATP2A2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Dec 20 20:17:19 CET 2014
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