The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plas... See more...

Aliases for ATP2B1 Gene

Aliases for ATP2B1 Gene

  • ATPase Plasma Membrane Ca2+ Transporting 1 2 3 5
  • Plasma Membrane Calcium-Transporting ATPase 1 2 3 4
  • ATPase, Ca++ Transporting, Plasma Membrane 1 2 3
  • PMCA1 3 4
  • Plasma Membrane Calcium ATPase Isoform 1 4
  • Plasma Membrane Calcium Pump Isoform 1 4
  • Plasma Membrane Calcium Pump 3
  • EC 7.2.2.10 4
  • EC 3.6.3.8 54
  • EC 3.6.3 54
  • PMCA1kb 3

External Ids for ATP2B1 Gene

Previous GeneCards Identifiers for ATP2B1 Gene

  • GC12M089402
  • GC12M090431
  • GC12M089916
  • GC12M088486
  • GC12M088484
  • GC12M087047
  • GC12M089981

Summaries for ATP2B1 Gene

Entrez Gene Summary for ATP2B1 Gene

  • The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 1. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

GeneCards Summary for ATP2B1 Gene

ATP2B1 (ATPase Plasma Membrane Ca2+ Transporting 1) is a Protein Coding gene. Diseases associated with ATP2B1 include Deafness, Autosomal Dominant 25 and Hypertension, Essential. Among its related pathways are Cardiac conduction and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include nucleotide binding and calcium-transporting ATPase activity. An important paralog of this gene is ATP2B3.

UniProtKB/Swiss-Prot Summary for ATP2B1 Gene

  • Catalyzes the hydrolysis of ATP coupled with the transport of calcium from the cytoplasm to the extracellular space thereby maintaining intracellular calcium homeostasis. Plays a role in blood pressure regulation through regulation of intracellular calcium concentration and nitric oxide production leading to regulation of vascular smooth muscle cells vasoconstriction. Positively regulates bone mineralization through absorption of calcium from the intestine. Plays dual roles in osteoclast differentiation and survival by regulating RANKL-induced calcium oscillations in preosteoclasts and mediating calcium extrusion in mature osteoclasts (By similarity). Regulates insulin sensitivity through calcium/calmodulin signaling pathway by regulating AKT1 activation and NOS3 activation in endothelial cells (PubMed:29104511).

Gene Wiki entry for ATP2B1 Gene

Additional gene information for ATP2B1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ATP2B1 Gene

Genomics for ATP2B1 Gene

GeneHancer (GH) Regulatory Elements for ATP2B1 Gene

Promoters and enhancers for ATP2B1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ATP2B1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ATP2B1 gene promoter:
  • AP-4
  • AREB6
  • ATF-2
  • Chx10
  • CUTL1
  • Evi-1
  • FOXL1
  • POU6F1 (c2)
  • RSRFC4
  • Tal-1beta

Genomic Locations for ATP2B1 Gene

Genomic Locations for ATP2B1 Gene
chr12:89,588,049-89,709,353
(GRCh38/hg38)
Size:
121,305 bases
Orientation:
Minus strand
chr12:89,981,826-90,103,077
(GRCh37/hg19)
Size:
121,252 bases
Orientation:
Minus strand

Genomic View for ATP2B1 Gene

Genes around ATP2B1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP2B1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATP2B1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP2B1 Gene

Proteins for ATP2B1 Gene

  • Protein details for ATP2B1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P20020-AT2B1_HUMAN
    Recommended name:
    Plasma membrane calcium-transporting ATPase 1
    Protein Accession:
    P20020
    Secondary Accessions:
    • Q12992
    • Q12993
    • Q13819
    • Q13820
    • Q13821
    • Q16504
    • Q93082

    Protein attributes for ATP2B1 Gene

    Size:
    1220 amino acids
    Molecular mass:
    134685 Da
    Quaternary structure:
    • Monomer (PubMed:1332771). Dimer (PubMed:1332771). Oligomer (PubMed:1332771). Calmodulin binding (PubMed:1332771). Interacts with PDZD11 (PubMed:12763866). Interacts with SLC35G1 and STIM1; inhibits calcium-transporting ATPase activity after store depletion (PubMed:22084111). Interacts with YWHAE; interacts with the monomeric and dimeric forms of the YWHAE but prefer the monomer form; this interaction inhibits calcium-transporting ATPase activity (PubMed:18029012). Interacts with NPTN; this interaction stabilizes ATP2B1 and increases ATPase activity; this interaction controls T cell calcium homeostasis following T cell activation (PubMed:30190470). Interacts with EPB41; regulates small intestinal calcium absorption through regulation of membrane expression of ATP2B1 (By similarity).

    Three dimensional structures from OCA and Proteopedia for ATP2B1 Gene

    Alternative splice isoforms for ATP2B1 Gene

neXtProt entry for ATP2B1 Gene

Selected DME Specific Peptides for ATP2B1 Gene

P20020:
  • LLSGTHVMEGSGRMVVTAVG
  • IPLIDDTD
  • VTAVGVNS
  • SSLTGES
  • IFCTIVLGTF
  • TIVFNTFV
  • VIEPMASEGLRTI
  • FDIDSGR
  • WLAECTP
  • VRMVTGDNINTA
  • QILWFRGLNRIQTQ
  • VTISLAYSV
  • FLGMGTLLWGQLISTIPTS
  • KDNNLVRHL
  • LWVNLIMDT
  • PYGRNKPLISRTMMKNILGHA
  • EQERIDK
  • LYKVYTF
  • LAVQIGKAGL
  • HPEFRIEDS
  • IPPKKPKTFL
  • MQLFNEINARKIHGERNVF
  • NTARAIATKCGIL
  • EASDIIL
  • LALATEPPT
  • DKTGTLT
  • PGEDFLCLEGK
  • VTAFNDWSKEKQFRGLQSRIE
  • EEELAEDVEEI
  • KILPPEKEG
  • LRVLARSSPTDKHTLVKGIIDS
  • QFQLTVN
  • AGITVRMVTG
  • QYFVKFFIIG
  • GWIEGAAIL
  • PGSPLHS
  • IRNEKGE
  • VGDIAQVKYGDLLPADG
  • GTDVAKEA
  • VGNKTEC
  • AFRSSLYEGLEKPE
  • IDSGRNAPLH
  • TQKEEIPEEEL
  • PPNILSYLVTGISVNCAYTSKILPPE
  • NINTARAIA
  • NSQTGIIFTLLGA
  • NRMTVVQ
  • VTGDGTND
  • KCQRAGITV
  • AAIVSLGLSFY
  • VWEALQD
  • MSAITVIILVLYF
  • GVTVLVV
  • MEMQPLKS
  • RIEQEQKF
  • SVRKSMSTV
  • DESSLTGE
  • IVQFGGKPFSCS
  • VVGIEDPVRPEVP
  • HAERELRR
  • AVPEGLPL

Post-translational modifications for ATP2B1 Gene

  • Ubiquitination at Lys19, Lys62, Lys256, Lys622, and Lys634
  • Modification sites at PhosphoSitePlus

Domains & Families for ATP2B1 Gene

Gene Families for ATP2B1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for ATP2B1 Gene

GenScript: Design optimal peptide antigens:
  • PMCA1kb (A1X4P7_HUMAN)
  • Plasma membrane calcium pump isoform 1 (AT2B1_HUMAN)
  • Plasma membrane calcium-ATPase isoform 1b (Q3L582_HUMAN)
  • ATP2B1 protein (Q58F24_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P20020

UniProtKB/Swiss-Prot:

AT2B1_HUMAN :
  • Isoforms A, C, D and E contain an additional calmodulin-binding subdomain B which is different in the different splice variants and shows pH dependent calmodulin binding properties.
  • Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIB subfamily.
Domain:
  • Isoforms A, C, D and E contain an additional calmodulin-binding subdomain B which is different in the different splice variants and shows pH dependent calmodulin binding properties.
Family:
  • Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIB subfamily.
genes like me logo Genes that share domains with ATP2B1: view

Function for ATP2B1 Gene

Molecular function for ATP2B1 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the hydrolysis of ATP coupled with the transport of calcium from the cytoplasm to the extracellular space thereby maintaining intracellular calcium homeostasis. Plays a role in blood pressure regulation through regulation of intracellular calcium concentration and nitric oxide production leading to regulation of vascular smooth muscle cells vasoconstriction. Positively regulates bone mineralization through absorption of calcium from the intestine. Plays dual roles in osteoclast differentiation and survival by regulating RANKL-induced calcium oscillations in preosteoclasts and mediating calcium extrusion in mature osteoclasts (By similarity). Regulates insulin sensitivity through calcium/calmodulin signaling pathway by regulating AKT1 activation and NOS3 activation in endothelial cells (PubMed:29104511).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + Ca(2+)(in) + H2O = ADP + Ca(2+)(out) + H(+) + phosphate; Xref=Rhea:RHEA:18105, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:29108, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=7.2.2.10; Evidence=. ;.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=519.5 uM for ATP (in complex with NPTN) {ECO:0000269 PubMed:30190470}; Vmax=325.5 nmol/min/mg enzyme {ECO:0000269 PubMed:30190470};
UniProtKB/Swiss-Prot Induction:
Up-regulated at the proliferative phase of the mentrual cycle. Up-regulated by estrogen.
GENATLAS Biochemistry:
ATPase,Ca++ transporting,B1plasma membrane,mediating the extrusion of CA2+ from the cell

Enzyme Numbers (IUBMB) for ATP2B1 Gene

Phenotypes From GWAS Catalog for ATP2B1 Gene

Gene Ontology (GO) - Molecular Function for ATP2B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005388 calcium-transporting ATPase activity IBA,TAS 21873635
GO:0005515 protein binding IPI 18029012
GO:0005516 calmodulin binding IEA --
GO:0005524 ATP binding IEA --
GO:0015085 calcium ion transmembrane transporter activity IDA 18029012
genes like me logo Genes that share ontologies with ATP2B1: view
genes like me logo Genes that share phenotypes with ATP2B1: view

Animal Models for ATP2B1 Gene

MGI Knock Outs for ATP2B1:

Animal Model Products

  • Taconic Biosciences Mouse Models for ATP2B1

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP2B1

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ATP2B1 Gene

Localization for ATP2B1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATP2B1 Gene

Cell membrane; Multi-pass membrane protein. Basolateral cell membrane. Cell junction, synapse. Note=Colocalizes with SV2A in photoreceptor synaptic terminals. Colocalizes with NPTN to the immunological synapse. Colocalizes with EPB41 to the basolateral membrane in enterocyte. {ECO:0000250 UniProtKB:G5E829}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ATP2B1 gene
Compartment Confidence
plasma membrane 5
nucleus 4
cytosol 3
extracellular 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ATP2B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001772 immunological synapse ISS --
GO:0005634 nucleus IDA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 8396145
GO:0009898 cytoplasmic side of plasma membrane IEA --
genes like me logo Genes that share ontologies with ATP2B1: view

Pathways & Interactions for ATP2B1 Gene

genes like me logo Genes that share pathways with ATP2B1: view

Pathways by source for ATP2B1 Gene

Gene Ontology (GO) - Biological Process for ATP2B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001818 negative regulation of cytokine production ISS --
GO:0003056 regulation of vascular smooth muscle contraction ISS --
GO:0003407 neural retina development IEA --
GO:0006811 ion transport IEA --
GO:0006816 calcium ion transport IEA --
genes like me logo Genes that share ontologies with ATP2B1: view

No data available for SIGNOR curated interactions for ATP2B1 Gene

Drugs & Compounds for ATP2B1 Gene

(5) Drugs for ATP2B1 Gene - From: PharmGKB, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Approved Nutra 7773
Magnesium Approved, Experimental, Investigational Pharma 0
Water Approved Pharma 0
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Pore Blocker, Potentiation 0
Antihypertensives Pharma 0

(4) Additional Compounds for ATP2B1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
Phosphate
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
14066-19-4, 14265-44-2
genes like me logo Genes that share compounds with ATP2B1: view

Transcripts for ATP2B1 Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP2B1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ATP2B1 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19 ^ 20
SP1:
SP2: -
SP3: - -
SP4: -
SP5: -
SP6:
SP7:

Relevant External Links for ATP2B1 Gene

GeneLoc Exon Structure for
ATP2B1
ECgene alternative splicing isoforms for
ATP2B1

Expression for ATP2B1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ATP2B1 Gene

mRNA differential expression in normal tissues according to GTEx for ATP2B1 Gene

This gene is overexpressed in Brain - Putamen (basal ganglia) (x5.0), Brain - Caudate (basal ganglia) (x4.8), Brain - Nucleus accumbens (basal ganglia) (x4.1), and Brain - Frontal Cortex (BA9) (x4.1).

Protein differential expression in normal tissues from HIPED for ATP2B1 Gene

This gene is overexpressed in Frontal cortex (17.6) and Brain (15.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ATP2B1 Gene



Protein tissue co-expression partners for ATP2B1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ATP2B1 Gene:

ATP2B1

SOURCE GeneReport for Unigene cluster for ATP2B1 Gene:

Hs.506276

mRNA Expression by UniProt/SwissProt for ATP2B1 Gene:

P20020-AT2B1_HUMAN
Tissue specificity: Isoform B: Ubiquitously expressed. Isoform C: Found in brain cortex, skeletal muscle and heart muscle. Isoform D: Has only been found in fetal skeletal muscle. Isoform K: Found in small intestine and liver. Abundantly expressed in the endometrial epithelial cells and glandular epithelial cells in early-proliferative phase and early-secretory phases (PubMed:21400627).

Evidence on tissue expression from TISSUES for ATP2B1 Gene

  • Nervous system(4.9)
  • Intestine(4.5)
  • Muscle(4.5)
  • Blood(4.4)
  • Bone(4.3)
  • Liver(4.2)
  • Eye(2.3)
  • Kidney(2.3)
  • Heart(2.1)
  • Stomach(2)
genes like me logo Genes that share expression patterns with ATP2B1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for ATP2B1 Gene

Orthologs for ATP2B1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ATP2B1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ATP2B1 33 32
  • 99.84 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ATP2B1 33 32
  • 96.15 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ATP2B1 33 32
  • 95.16 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ATP2B1 33
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 33
  • 93 (a)
OneToMany
-- 33
  • 91 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Atp2b1 17 33 32
  • 90.79 (n)
rat
(Rattus norvegicus)
Mammalia Atp2b1 32
  • 88.58 (n)
chicken
(Gallus gallus)
Aves ATP2B1 33 32
  • 84.8 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATP2B1 33
  • 91 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.25538 32
zebrafish
(Danio rerio)
Actinopterygii atp2b1b 33
  • 80 (a)
OneToMany
atp2b1a 33 32
  • 73.73 (n)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta BEST:CK01140 34
  • 63 (a)
PMCA 33
  • 59 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea mca-3 33
  • 58 (a)
ManyToMany
mca-2 33
  • 58 (a)
ManyToMany
R05C11.3 34
  • 58 (a)
mca-1 33 34
  • 51 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PMC1 33
  • 35 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons ACA11 32
  • 53.61 (n)
rice
(Oryza sativa)
Liliopsida Os12g0136900 32
  • 52.66 (n)
barley
(Hordeum vulgare)
Liliopsida Hv.8619 32
corn
(Zea mays)
Liliopsida Zm.17277 32
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 65 (a)
OneToMany
Species where no ortholog for ATP2B1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for ATP2B1 Gene

ENSEMBL:
Gene Tree for ATP2B1 (if available)
TreeFam:
Gene Tree for ATP2B1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ATP2B1: view image

Paralogs for ATP2B1 Gene

(6) SIMAP similar genes for ATP2B1 Gene using alignment to 7 proteins:

  • AT2B1_HUMAN
  • A1X4P7_HUMAN
  • E7ERY9_HUMAN
  • F8W1V5_HUMAN
  • H0YHH6_HUMAN
  • Q3L582_HUMAN
  • Q58F24_HUMAN

Pseudogenes.org Pseudogenes for ATP2B1 Gene

genes like me logo Genes that share paralogs with ATP2B1: view

Variants for ATP2B1 Gene

Sequence variations from dbSNP and Humsavar for ATP2B1 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1000005941 -- 89,635,551(-) G/T intron_variant
rs1000008928 -- 89,637,487(-) C/A/G intron_variant
rs1000020556 -- 89,684,885(-) C/A intron_variant
rs1000051988 -- 89,708,955(-) G/C genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000064993 -- 89,668,198(-) C/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ATP2B1 Gene

Variant ID Type Subtype PubMed ID
nsv832479 CNV gain 17160897

Variation tolerance for ATP2B1 Gene

Residual Variation Intolerance Score: 3.86% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.07; 21.83% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ATP2B1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATP2B1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP2B1 Gene

Disorders for ATP2B1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for ATP2B1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
deafness, autosomal dominant 25
  • dfna25
hypertension, essential
  • eht
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ATP2B1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ATP2B1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ATP2B1 Gene

Publications for ATP2B1 Gene

  1. Structure of the gene encoding the human plasma membrane calcium pump isoform 1. (PMID: 8396145) Hilfiker H … Strehler EE (The Journal of biological chemistry 1993) 3 4 23 56
  2. Localization of two genes encoding plasma membrane Ca2(+)-transporting ATPases to human chromosomes 1q25-32 and 12q21-23. (PMID: 1674727) Olson S … McBride OW (Genomics 1991) 2 3 23 56
  3. Structure of the human plasma membrane Ca2+-ATPase 1 in complex with its obligatory subunit neuroplastin. (PMID: 30190470) Gong D … Zhou Q (Nature communications 2018) 3 4 56
  4. ATP2B1 gene Silencing Increases Insulin Sensitivity through Facilitating Akt Activation via the Ca2+/calmodulin Signaling Pathway and Ca2+-associated eNOS Activation in Endothelial Cells. (PMID: 29104511) Long Y … Xu Y (International journal of biological sciences 2017) 3 4 56
  5. Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. (PMID: 21909110) Wain LV … van Duijn CM (Nature genetics 2011) 3 43 56

Products for ATP2B1 Gene

Sources for ATP2B1 Gene