Atlas of Genetics and Cytogenetics in Oncology and Haematology


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ATP2B1 (ATPase plasma membrane Ca2+ transporting 1)

Identity

Alias_namesATPase
Alias_symbol (synonym)PMCA1
Other aliasPMCA1kb
HGNC (Hugo) ATP2B1
LocusID (NCBI) 490
Atlas_Id 43761
Location 12q21.33  [Link to chromosome band 12q21]
Location_base_pair Starts at 89588049 and ends at 89656067 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)
AD_1 () / ATP2B1 (12q21.33)ATP2B1 (12q21.33) / ATP2B1 (12q21.33)ATP2B1 (12q21.33) / KCNC2 (12q21.1)
ATP2B1 12q21.33 / KCNC2 12q21.1

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)ATP2B1   814
Cards
Entrez_Gene (NCBI)ATP2B1  490  ATPase plasma membrane Ca2+ transporting 1
AliasesPMCA1; PMCA1kb
GeneCards (Weizmann)ATP2B1
Ensembl hg19 (Hinxton)ENSG00000070961 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000070961 [Gene_View]  chr12:89588049-89656067 [Contig_View]  ATP2B1 [Vega]
ICGC DataPortalENSG00000070961
TCGA cBioPortalATP2B1
AceView (NCBI)ATP2B1
Genatlas (Paris)ATP2B1
WikiGenes490
SOURCE (Princeton)ATP2B1
Genetics Home Reference (NIH)ATP2B1
Genomic and cartography
GoldenPath hg38 (UCSC)ATP2B1  -     chr12:89588049-89656067 -  12q21.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ATP2B1  -     12q21.33   [Description]    (hg19-Feb_2009)
EnsemblATP2B1 - 12q21.33 [CytoView hg19]  ATP2B1 - 12q21.33 [CytoView hg38]
Mapping of homologs : NCBIATP2B1 [Mapview hg19]  ATP2B1 [Mapview hg38]
OMIM108731   
Gene and transcription
Genbank (Entrez)AB208896 AF070606 AK024895 AK027053 AK308723
RefSeq transcript (Entrez)NM_001001323 NM_001682
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ATP2B1
Cluster EST : UnigeneHs.506276 [ NCBI ]
CGAP (NCI)Hs.506276
Alternative Splicing GalleryENSG00000070961
Gene ExpressionATP2B1 [ NCBI-GEO ]   ATP2B1 [ EBI - ARRAY_EXPRESS ]   ATP2B1 [ SEEK ]   ATP2B1 [ MEM ]
Gene Expression Viewer (FireBrowse)ATP2B1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)490
GTEX Portal (Tissue expression)ATP2B1
Human Protein AtlasENSG00000070961-ATP2B1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP20020   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP20020  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP20020
Splice isoforms : SwissVarP20020
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 ]   
PhosPhoSitePlusP20020
Domaine pattern : Prosite (Expaxy)ATPASE_E1_E2 (PS00154)   
Domains : Interpro (EBI)ATP_Ca_trans_C    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_IIB    P_typ_ATPase   
Domain families : Pfam (Sanger)ATP_Ca_trans_C (PF12424)    Cation_ATPase_C (PF00689)    Cation_ATPase_N (PF00690)    E1-E2_ATPase (PF00122)   
Domain families : Pfam (NCBI)pfam12424    pfam00689    pfam00690    pfam00122   
Domain families : Smart (EMBL)Cation_ATPase_N (SM00831)  
Conserved Domain (NCBI)ATP2B1
DMDM Disease mutations490
Blocks (Seattle)ATP2B1
SuperfamilyP20020
Human Protein Atlas [tissue]ENSG00000070961-ATP2B1 [tissue]
Peptide AtlasP20020
HPRD00158
IPIIPI00021695   IPI00216526   IPI00216527   IPI00216528   IPI00216529   IPI00216530   IPI01023025   IPI00984683   IPI01022851   
Protein Interaction databases
DIP (DOE-UCLA)P20020
IntAct (EBI)P20020
FunCoupENSG00000070961
BioGRIDATP2B1
STRING (EMBL)ATP2B1
ZODIACATP2B1
Ontologies - Pathways
QuickGOP20020
Ontology : AmiGOneural retina development  calcium-transporting ATPase activity  calcium-transporting ATPase activity  protein binding  calmodulin binding  ATP binding  nucleus  plasma membrane  plasma membrane  integral component of plasma membrane  transport  cellular calcium ion homeostasis  brain development  aging  response to cold  cytoplasmic side of plasma membrane  calcium ion transmembrane transporter activity  membrane  basolateral plasma membrane  apical plasma membrane  PDZ domain binding  dendritic spine membrane  neuronal cell body membrane  ion transmembrane transport  intracellular membrane-bounded organelle  membrane raft  metal ion binding  regulation of cytosolic calcium ion concentration  extracellular exosome  calcium ion transmembrane transport  cellular response to vitamin D  cellular response to corticosterone stimulus  ATP hydrolysis coupled cation transmembrane transport  regulation of cardiac conduction  calcium ion export from cell  
Ontology : EGO-EBIneural retina development  calcium-transporting ATPase activity  calcium-transporting ATPase activity  protein binding  calmodulin binding  ATP binding  nucleus  plasma membrane  plasma membrane  integral component of plasma membrane  transport  cellular calcium ion homeostasis  brain development  aging  response to cold  cytoplasmic side of plasma membrane  calcium ion transmembrane transporter activity  membrane  basolateral plasma membrane  apical plasma membrane  PDZ domain binding  dendritic spine membrane  neuronal cell body membrane  ion transmembrane transport  intracellular membrane-bounded organelle  membrane raft  metal ion binding  regulation of cytosolic calcium ion concentration  extracellular exosome  calcium ion transmembrane transport  cellular response to vitamin D  cellular response to corticosterone stimulus  ATP hydrolysis coupled cation transmembrane transport  regulation of cardiac conduction  calcium ion export from cell  
Pathways : KEGGCalcium signaling pathway    Adrenergic signaling in cardiomyocytes    Endocrine and other factor-regulated calcium reabsorption    Salivary secretion    Pancreatic secretion    Mineral absorption   
NDEx NetworkATP2B1
Atlas of Cancer Signalling NetworkATP2B1
Wikipedia pathwaysATP2B1
Orthology - Evolution
OrthoDB490
GeneTree (enSembl)ENSG00000070961
Phylogenetic Trees/Animal Genes : TreeFamATP2B1
HOVERGENP20020
HOGENOMP20020
Homologs : HomoloGeneATP2B1
Homology/Alignments : Family Browser (UCSC)ATP2B1
Gene fusions - Rearrangements
Fusion : MitelmanATP2B1/KCNC2 [12q21.33/12q21.1]  
Fusion: TCGA_MDACCATP2B1 12q21.33 KCNC2 12q21.1 BRCA
Tumor Fusion PortalATP2B1
Fusion Cancer (Beijing)AD_1 [ATP2B1]  -  12q21.33 [FUSC000693]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerATP2B1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ATP2B1
dbVarATP2B1
ClinVarATP2B1
1000_GenomesATP2B1 
Exome Variant ServerATP2B1
ExAC (Exome Aggregation Consortium)ENSG00000070961
GNOMAD BrowserENSG00000070961
Genetic variants : HAPMAP490
Genomic Variants (DGV)ATP2B1 [DGVbeta]
DECIPHERATP2B1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisATP2B1 
Mutations
ICGC Data PortalATP2B1 
TCGA Data PortalATP2B1 
Broad Tumor PortalATP2B1
OASIS PortalATP2B1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICATP2B1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDATP2B1
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
BioMutasearch ATP2B1
DgiDB (Drug Gene Interaction Database)ATP2B1
DoCM (Curated mutations)ATP2B1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ATP2B1 (select a term)
intoGenATP2B1
Cancer3DATP2B1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM108731   
Orphanet
DisGeNETATP2B1
MedgenATP2B1
Genetic Testing Registry ATP2B1
NextProtP20020 [Medical]
TSGene490
GENETestsATP2B1
Target ValidationATP2B1
Huge Navigator ATP2B1 [HugePedia]
snp3D : Map Gene to Disease490
BioCentury BCIQATP2B1
ClinGenATP2B1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD490
Chemical/Pharm GKB GenePA25107
Clinical trialATP2B1
Miscellaneous
canSAR (ICR)ATP2B1 (select the gene name)
Probes
Litterature
PubMed94 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineATP2B1
EVEXATP2B1
GoPubMedATP2B1
iHOPATP2B1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 14:04:11 CET 2017

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