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ATP2B3 (ATPase plasma membrane Ca2+ transporting 3)

Identity

Alias_namesSCAX1
CLA2
spinocerebellar ataxia, X-linked 1
cerebellar ataxia 2 (X-linked)
ATPase, Ca? transporting, plasma membrane 3
Alias_symbol (synonym)PMCA3
CFAP39
Other aliasOPCA
PMCA3a
HGNC (Hugo) ATP2B3
LocusID (NCBI) 492
Atlas_Id 53954
Location Xq28  [Link to chromosome band Xq28]
Location_base_pair Starts at 153536122 and ends at 153582929 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)
ATP2B3 (Xq28) / PSMD1 (2q37.1)ATP2B3 (Xq28) / SLC10A3 (Xq28)

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)ATP2B3   816
Cards
Entrez_Gene (NCBI)ATP2B3  492  ATPase plasma membrane Ca2+ transporting 3
AliasesCFAP39; CLA2; OPCA; PMCA3; 
PMCA3a; SCAX1
GeneCards (Weizmann)ATP2B3
Ensembl hg19 (Hinxton)ENSG00000067842 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000067842 [Gene_View]  chrX:153536122-153582929 [Contig_View]  ATP2B3 [Vega]
ICGC DataPortalENSG00000067842
TCGA cBioPortalATP2B3
AceView (NCBI)ATP2B3
Genatlas (Paris)ATP2B3
WikiGenes492
SOURCE (Princeton)ATP2B3
Genetics Home Reference (NIH)ATP2B3
Genomic and cartography
GoldenPath hg38 (UCSC)ATP2B3  -     chrX:153536122-153582929 +  Xq28   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ATP2B3  -     Xq28   [Description]    (hg19-Feb_2009)
EnsemblATP2B3 - Xq28 [CytoView hg19]  ATP2B3 - Xq28 [CytoView hg38]
Mapping of homologs : NCBIATP2B3 [Mapview hg19]  ATP2B3 [Mapview hg38]
OMIM300014   
Gene and transcription
Genbank (Entrez)AK090838 AK094500 AK130194 AK307765 AK308705
RefSeq transcript (Entrez)NM_001001344 NM_021949
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ATP2B3
Cluster EST : UnigeneHs.658008 [ NCBI ]
CGAP (NCI)Hs.658008
Alternative Splicing GalleryENSG00000067842
Gene ExpressionATP2B3 [ NCBI-GEO ]   ATP2B3 [ EBI - ARRAY_EXPRESS ]   ATP2B3 [ SEEK ]   ATP2B3 [ MEM ]
Gene Expression Viewer (FireBrowse)ATP2B3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)492
GTEX Portal (Tissue expression)ATP2B3
Human Protein AtlasENSG00000067842-ATP2B3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ16720   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ16720  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ16720
Splice isoforms : SwissVarQ16720
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 ]   
PhosPhoSitePlusQ16720
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)    Hydrolase_3 (PF08282)   
Domain families : Pfam (NCBI)pfam12424    pfam00689    pfam00690    pfam00122    pfam08282   
Domain families : Smart (EMBL)Cation_ATPase_N (SM00831)  
Conserved Domain (NCBI)ATP2B3
DMDM Disease mutations492
Blocks (Seattle)ATP2B3
SuperfamilyQ16720
Human Protein Atlas [tissue]ENSG00000067842-ATP2B3 [tissue]
Peptide AtlasQ16720
HPRD02057
IPIIPI00003831   IPI00219256   IPI00219257   IPI00219258   IPI00219259   IPI00219260   IPI00219261   IPI00219262   IPI00442801   IPI00921171   
Protein Interaction databases
DIP (DOE-UCLA)Q16720
IntAct (EBI)Q16720
FunCoupENSG00000067842
BioGRIDATP2B3
STRING (EMBL)ATP2B3
ZODIACATP2B3
Ontologies - Pathways
QuickGOQ16720
Ontology : AmiGOcalcium-transporting ATPase activity  calcium-transporting ATPase activity  protein binding  calmodulin binding  ATP binding  Golgi apparatus  plasma membrane  plasma membrane  integral component of plasma membrane  transport  cellular calcium ion homeostasis  calcium ion transmembrane transporter activity  PDZ domain binding  ion transmembrane transport  intracellular membrane-bounded organelle  metal ion binding  regulation of cytosolic calcium ion concentration  calcium ion transmembrane transport  ATP hydrolysis coupled cation transmembrane transport  extracellular vesicle  regulation of cardiac conduction  calcium ion export from cell  
Ontology : EGO-EBIcalcium-transporting ATPase activity  calcium-transporting ATPase activity  protein binding  calmodulin binding  ATP binding  Golgi apparatus  plasma membrane  plasma membrane  integral component of plasma membrane  transport  cellular calcium ion homeostasis  calcium ion transmembrane transporter activity  PDZ domain binding  ion transmembrane transport  intracellular membrane-bounded organelle  metal ion binding  regulation of cytosolic calcium ion concentration  calcium ion transmembrane transport  ATP hydrolysis coupled cation transmembrane transport  extracellular vesicle  regulation of cardiac conduction  calcium ion export from cell  
Pathways : KEGGCalcium signaling pathway    Adrenergic signaling in cardiomyocytes    Salivary secretion    Pancreatic secretion   
NDEx NetworkATP2B3
Atlas of Cancer Signalling NetworkATP2B3
Wikipedia pathwaysATP2B3
Orthology - Evolution
OrthoDB492
GeneTree (enSembl)ENSG00000067842
Phylogenetic Trees/Animal Genes : TreeFamATP2B3
HOVERGENQ16720
HOGENOMQ16720
Homologs : HomoloGeneATP2B3
Homology/Alignments : Family Browser (UCSC)ATP2B3
Gene fusions - Rearrangements
Tumor Fusion PortalATP2B3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerATP2B3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ATP2B3
dbVarATP2B3
ClinVarATP2B3
1000_GenomesATP2B3 
Exome Variant ServerATP2B3
ExAC (Exome Aggregation Consortium)ENSG00000067842
GNOMAD BrowserENSG00000067842
Genetic variants : HAPMAP492
Genomic Variants (DGV)ATP2B3 [DGVbeta]
DECIPHERATP2B3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisATP2B3 
Mutations
ICGC Data PortalATP2B3 
TCGA Data PortalATP2B3 
Broad Tumor PortalATP2B3
OASIS PortalATP2B3 [ Somatic mutations - Copy number]
Cancer Gene: CensusATP2B3 
Somatic Mutations in Cancer : COSMICATP2B3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDATP2B3
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)X-chromosome gene database
BioMutasearch ATP2B3
DgiDB (Drug Gene Interaction Database)ATP2B3
DoCM (Curated mutations)ATP2B3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ATP2B3 (select a term)
intoGenATP2B3
Cancer3DATP2B3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300014   
Orphanet21546   
DisGeNETATP2B3
MedgenATP2B3
Genetic Testing Registry ATP2B3
NextProtQ16720 [Medical]
TSGene492
GENETestsATP2B3
Target ValidationATP2B3
Huge Navigator ATP2B3 [HugePedia]
snp3D : Map Gene to Disease492
BioCentury BCIQATP2B3
ClinGenATP2B3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD492
Chemical/Pharm GKB GenePA25109
Clinical trialATP2B3
Miscellaneous
canSAR (ICR)ATP2B3 (select the gene name)
Probes
Litterature
PubMed35 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineATP2B3
EVEXATP2B3
GoPubMedATP2B3
iHOPATP2B3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 21 14:04:12 CET 2017

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