Human Gene ATP2B2 (ENST00000360273.7) from GENCODE V44
  Description: Homo sapiens ATPase plasma membrane Ca2+ transporting 2 (ATP2B2), transcript variant 1, mRNA. (from RefSeq NM_001001331)
RefSeq Summary (NM_001001331): 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 2. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008].
Gencode Transcript: ENST00000360273.7
Gencode Gene: ENSG00000157087.20
Transcript (Including UTRs)
   Position: hg38 chr3:10,324,023-10,505,586 Size: 181,564 Total Exon Count: 23 Strand: -
Coding Region
   Position: hg38 chr3:10,328,814-10,449,543 Size: 120,730 Coding Exon Count: 22 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:10,324,023-10,505,586)mRNA (may differ from genome)Protein (1243 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: AT2B2_HUMAN
DESCRIPTION: RecName: Full=Plasma membrane calcium-transporting ATPase 2; Short=PMCA2; EC=3.6.3.8; AltName: Full=Plasma membrane calcium ATPase isoform 2; AltName: Full=Plasma membrane calcium pump isoform 2;
FUNCTION: This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium out of the cell.
CATALYTIC ACTIVITY: ATP + H(2)O + Ca(2+)(Side 1) = ADP + phosphate + Ca(2+)(Side 2).
INTERACTION: Q63622:Dlg2 (xeno); NbExp=2; IntAct=EBI-1174262, EBI-396947; Q8SQG9:SLC9A3R2 (xeno); NbExp=3; IntAct=EBI-1174262, EBI-1174758;
SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
TISSUE SPECIFICITY: Mainly expressed in brain cortex. Found in low levels in skeletal muscle, heart muscle, stomach, liver, kidney and lung. Isoforms containing segment B are found in brain cortex and at low levels in other tissues. Isoforms containing segments X and W are found at low levels in all tissues. Isoforms containing segment A and segment Z are found at low levels in skeletal muscle and heart muscle.
SIMILARITY: Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIB subfamily.

-  Primer design for this transcript
 

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-  MalaCards Disease Associations
  MalaCards Gene Search: ATP2B2
Diseases sorted by gene-association score: deafness, autosomal recessive 12* (389), 3p- syndrome (10), wolfram syndrome (6), leber congenital amaurosis 2 (6), autosomal recessive non-syndromic sensorineural deafness type dfnb* (3)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • C009618 O,O-diethyl O-3,5,6-trichloro-2-pyridyl phosphate
  • C028474 1,4-bis(2-(3,5-dichloropyridyloxy))benzene
  • C029790 2,2',3',4,4',5-hexachlorobiphenyl
  • C016403 2,4-dinitrotoluene
  • C023514 2,6-dinitrotoluene
  • C472791 3-(4'-hydroxy-3'-adamantylbiphenyl-4-yl)acrylic acid
  • D000082 Acetaminophen
  • D001564 Benzo(a)pyrene
  • D019256 Cadmium Chloride
  • D002737 Chloroprene
          more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 66.56 RPKM in Brain - Cerebellum
Total median expression: 364.84 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -184.30441-0.418 Picture PostScript Text
3' UTR -1426.604791-0.298 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR022141 - ATP_Ca_trans_C
IPR023306 - ATPase_cation_domN
IPR008250 - ATPase_P-typ_ATPase-assoc-dom
IPR006408 - ATPase_P-typ_Ca-transp_PMCA
IPR006069 - ATPase_P-typ_cation-exchng_asu
IPR006068 - ATPase_P-typ_cation-transptr_C
IPR004014 - ATPase_P-typ_cation-transptr_N
IPR023300 - ATPase_P-typ_cyto_domA
IPR023299 - ATPase_P-typ_cyto_domN
IPR001757 - ATPase_P-typ_ion-transptr
IPR018303 - ATPase_P-typ_P_site
IPR023298 - ATPase_P-typ_TM_dom
IPR005834 - Dehalogen-like_hydro
IPR023214 - HAD-like_dom

Pfam Domains:
PF12424 - Plasma membrane calcium transporter ATPase C terminal
PF00689 - Cation transporting ATPase, C-terminus
PF00690 - Cation transporter/ATPase, N-terminus
PF00122 - E1-E2 ATPase
PF00702 - haloacid dehalogenase-like hydrolase

ModBase Predicted Comparative 3D Structure on Q01814
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0005388 calcium-transporting ATPase activity
GO:0005509 calcium ion binding
GO:0005515 protein binding
GO:0005516 calmodulin binding
GO:0005524 ATP binding
GO:0008022 protein C-terminus binding
GO:0016787 hydrolase activity
GO:0030165 PDZ domain binding
GO:0046872 metal ion binding

Biological Process:
GO:0006811 ion transport
GO:0006816 calcium ion transport
GO:0007605 sensory perception of sound
GO:0030182 neuron differentiation
GO:0034220 ion transmembrane transport
GO:0051480 regulation of cytosolic calcium ion concentration
GO:0070588 calcium ion transmembrane transport
GO:0099132 ATP hydrolysis coupled cation transmembrane transport
GO:1903779 regulation of cardiac conduction

Cellular Component:
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030054 cell junction
GO:0043231 intracellular membrane-bounded organelle
GO:0045202 synapse
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  AB210008 - Homo sapiens mRNA for ATP2B2 variant protein, clone: fg06458.
L20977 - Human plasma membrane calcium ATPase isoform 2 (ATP2B2) mRNA, complete cds.
M97260 - Human plasma membrane Ca2+-ATPase isoform PMCA2a mRNA, complete cds.
AK308898 - Homo sapiens cDNA, FLJ98939.
BC128575 - Homo sapiens ATPase, Ca++ transporting, plasma membrane 2, mRNA (cDNA clone IMAGE:40128278), containing frame-shift errors.
KJ901296 - Synthetic construct Homo sapiens clone ccsbBroadEn_10690 ATP2B2 gene, encodes complete protein.
KR711944 - Synthetic construct Homo sapiens clone CCSBHm_00032824 ATP2B2 (ATP2B2) mRNA, encodes complete protein.
KR711945 - Synthetic construct Homo sapiens clone CCSBHm_00032825 ATP2B2 (ATP2B2) mRNA, encodes complete protein.
L00620 - Human plasma membrane calcium ATPase isoform 2 (APT2B2) mRNA, comlete cds.
S95758 - Homo sapiens clone ht10.1 plasma membrane Ca(2+)-ATPase isoform 2 (PMCA2) mRNA, partial cds, alternatively spliced.
X63575 - H.sapiens mRNA for plasma membrane calcium ATPase.
AB384402 - Synthetic construct DNA, clone: pF1KSDB1483, Homo sapiens ATP2B2 gene for plasma membrane calcium-transporting ATPase 2, complete cds, without stop codon, in Flexi system.
DQ201777 - Homo sapiens PMCA2a (ATP2B2) mRNA, partial cds.
DQ201778 - Homo sapiens PMCA2i (ATP2B2) mRNA, partial cds, alternatively spliced.
JD026424 - Sequence 7448 from Patent EP1572962.
JD029152 - Sequence 10176 from Patent EP1572962.
JD031661 - Sequence 12685 from Patent EP1572962.
BC019853 - Homo sapiens ATPase, Ca++ transporting, plasma membrane 2, mRNA (cDNA clone IMAGE:4933343), with apparent retained intron.
JD169913 - Sequence 150937 from Patent EP1572962.
JD164176 - Sequence 145200 from Patent EP1572962.
JD286978 - Sequence 268002 from Patent EP1572962.
JD365343 - Sequence 346367 from Patent EP1572962.
JD120923 - Sequence 101947 from Patent EP1572962.
U15688 - Human clone hPMCA2a alternatively spliced plasma membrane calcium pump (ATP2B2) mRNA, partial cds.
S95743 - Homo sapiens clone RACE-c plasma membrane Ca(2+)-ATPase isoform 2 (PMCA2) mRNA, partial cds, alternatively spliced.
S95738 - Homo sapiens clone hbPCR6.3 plasma membrane Ca(2+)-ATPase isoform 2 (PMCA2) mRNA, partial cds, alternatively spliced.
JD513756 - Sequence 494780 from Patent EP1572962.
JD469910 - Sequence 450934 from Patent EP1572962.
JD051117 - Sequence 32141 from Patent EP1572962.
JD426526 - Sequence 407550 from Patent EP1572962.
JD151213 - Sequence 132237 from Patent EP1572962.
JD554224 - Sequence 535248 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04020 - Calcium signaling pathway

Reactome (by CSHL, EBI, and GO)

Protein Q01814 (Reactome details) participates in the following event(s):

R-HSA-418309 ATP2B1-4 transport cytosolic Ca2+ to extracellular region
R-HSA-418359 Reduction of cytosolic Ca++ levels
R-HSA-936837 Ion transport by P-type ATPases
R-HSA-5578775 Ion homeostasis
R-HSA-418360 Platelet calcium homeostasis
R-HSA-983712 Ion channel transport
R-HSA-5576891 Cardiac conduction
R-HSA-418346 Platelet homeostasis
R-HSA-382551 Transport of small molecules
R-HSA-397014 Muscle contraction
R-HSA-109582 Hemostasis

-  Other Names for This Gene
  Alternate Gene Symbols: AT2B2_HUMAN, ENST00000360273.1, ENST00000360273.2, ENST00000360273.3, ENST00000360273.4, ENST00000360273.5, ENST00000360273.6, NM_001001331, O00766, PMCA2, Q01814, Q12994, Q16818, uc003bvt.1, uc003bvt.2, uc003bvt.3, uc003bvt.4
UCSC ID: ENST00000360273.7
RefSeq Accession: NM_001001331
Protein: Q01814 (aka AT2B2_HUMAN or ATB2_HUMAN)
CCDS: CCDS2601.1, CCDS33701.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.