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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ATP2B2 Gene

protein-coding GIFtS: 64
GCID: GC03M010365

ATPase, Ca++ transporting, plasma membrane 2

Explore 19 diseases affiliated with
ATP2B2 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
ATPase, Ca++ Transporting, Plasma Membrane 2¹ ²		Plasma Membrane Calcium ATPase²
PMCA2¹ ² ³ ⁵		Plasma Membrane Calcium Pump²
EC 3.6.3.8³ ⁸		Plasma Membrane Calcium-Transporting ATPase 2²
PMCA2a²		Plasma Membrane Calcium ATPase Isoform 2³
PMCA2i²		Plasma Membrane Calcium Pump Isoform 2³
Plasma Membrane Ca(2+)-ATPase²		EC 3.6.3⁸
Plasma Membrane Ca2+ Pump 2²

External Ids:	HGNC: 815¹	Entrez Gene: 491²	Ensembl: ENSG00000157087⁷	OMIM: 108733⁵	UniProtKB: Q01814³

Export aliases for ATP2B2 gene to outside databases

Previous GC identifers: GC03M010298 GC03M010344 GC03M010342

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ATP2B2:

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)

UniProtKB/Swiss-Prot: AT2B2_HUMAN, Q01814

Function: This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium out of

the cell

Gene Wiki entry for ATP2B2

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000003.11 NC_018914.1 NT_022517.18

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the ATP2B2 gene promoter:
ER-alpha Bach1 AML1a Lmo2 GATA-2 E47 AREB6 Cart-1 ZID Hlf
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ATP2B2 promoter sequence

Search SABiosciences Chromatin IP Primers for ATP2B2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ATP2B2

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3p25.3 Ensembl cytogenetic band: 3p25.3 HGNC cytogenetic band: 3p25.3

ATP2B2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATP2B2 gene location

GeneLoc information about chromosome 3 GeneLoc Exon Structure

GeneLoc location for GC03M010365: view genomic region (about GC identifiers)

Start:	10,365,707 bp from pter	End:	10,749,716 bp from pter
Size:	384,010 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: AT2B2_HUMAN, Q01814 (See protein sequence)

Recommended Name: Plasma membrane calcium-transporting ATPase 2

Size: 1243 amino acids; 136876 Da

Subcellular location: Cell membrane; Multi-pass membrane protein

Secondary accessions: O00766 Q12994 Q16818

Alternative splicing: 8 isoforms: Q01814-1 Q01814-2 Q01814-3 Q01814-4 Q01814-5 Q01814-6 Q01814-7 Q01814-8

(Contains a phosphoserine at position 1146)

Explore the universe of human proteins at neXtProt for ATP2B2: NX_Q01814

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q01814

4/62 DME Specific Peptides for ATP2B2 (Q01814) (see all 62)

QFQLTVN

SSLTGES

IRNEKGE

VGNKTEC

ATP2B2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001001331.1 NP_001674.2

ENSEMBL proteins:

ENSP00000324172 ENSP00000373311 ENSP00000424494 ENSP00000380267 ENSP00000414854

ENSP00000353414 ENSP00000344677

Reactome Protein details: Q01814
Human Recombinant Protein Products for ATP2B2:

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	Uscn Proteins for ATP2B2

Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (see all 10): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	IDA	15765049
GO:0005783	endoplasmic reticulum	IEA	--
GO:0005792	microsome	--	--
GO:0005886	plasma membrane	TAS	--
GO:0005929	cilium	IEA	--

ATP2B2 for ontologies About GeneDecksing

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

ATP2B2 for domains About GeneDecksing

5/11 InterPro domains/families (see all 11):

IPR023298 ATPase_P-typ_TM_dom

IPR023306 ATPase_cation_domN

IPR023299 ATPase_P-typ_cyto_domN

IPR008250 ATPase_P-typ_transduc_dom_A

IPR006408 ATPase_P-typ_Ca-transp_plasma

Graphical View of Domain Structure for InterPro Entry Q01814

ProtoNet protein and cluster: Q01814

3 Blocks protein families:

IPB001757 ATPase

IPB006068 Cation transporting ATPase

IPB008250 E1-E2 ATPase-associated region

UniProtKB/Swiss-Prot: AT2B2_HUMAN, Q01814

Similarity: Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIB subfamily

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: AT2B2_HUMAN, Q01814

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)

Genatlas biochemistry entry for ATP2B2:

ATPase,Ca++ transporting,B2 plasma membrane,mediating the extrusion of CA2+ from the cell

Enzyme Numbers (IUBMB): EC 3.6.3.8¹ ² EC 3.6.3²

Gene Ontology (GO): 5/10 molecular function terms (GO ID links to tree view) (see all 10): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005388	calcium-transporting ATPase activity	NAS	1313367
GO:0005509	calcium ion binding	IDA	7929331
GO:0005515	protein binding	IPI	11274188
GO:0005516	calmodulin binding	IEA	--
GO:0005524	ATP binding	IEA	--

ATP2B2 for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for ATP2B2:

Increased gamma-H2AX phosphory

8 MGI mutant phenotypes (inferred from 10 alleles) (MGI details for Atp2b2):

behavior/neurological	cellular	growth/size	hearing/vestibular/ear	homeostasis/metabolism
nervous system	no phenotypic analysis	reproductive system

ATP2B2 for phenotypes About GeneDecksing

Animal Models:
Mouse knock-out Atp2b2^tm1Ges for ATP2B2

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATP2B2

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/10 super-pathways (see all 10) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Ion channel transport

Ion channel transport

1.00

Ion transport by P-type ATPases

0.32

Platelet calcium homeostasis

Platelet calcium homeostasis

1.00

Reduction of cytosolic Ca++ levels

0.53

Pancreatic secretion

Pancreatic secretion

1.00

Calcium signaling pathway

Calcium signaling pathway

1.00

Calcium Regulation in the Cardiac Cell

Calcium Regulation in the Cardiac Cell

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for ATP2B2

Intracellular Calcium Signaling

1 BioSystems Pathway for ATP2B2

Calcium Regulation in the Cardiac Cell

5/7 Reactome Pathways for ATP2B2 (see all 7)

	Hemostasis
	Transmembrane transport of small molecules
	Ion channel transport
	Platelet homeostasis
	Ion transport by P-type ATPases

3 Kegg Pathways (Kegg details for ATP2B2):

	Calcium signaling pathway
	Salivary secretion
	Pancreatic secretion

ATP2B2 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for ATP2B2

STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

5/22 Interacting proteins for ATP2B2 (Q01814^{1, 2, 3} ENSP00000324172⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 22)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CALCA	P01258²^,³, ENSP00000331746⁴	MINT-5204027 MINT-5203983 I2D: score=1 STRING: ENSP00000331746
DLG1	Q12959²^,³, ENSP00000345731⁴	MINT-73072 I2D: score=2 STRING: ENSP00000345731
YWHAE	P62258²^,³, ENSP00000264335⁴	MINT-8007186 I2D: score=1 STRING: ENSP00000264335
DLG2	Q15700²^,³, ENSP00000365272⁴	MINT-73081 I2D: score=3 STRING: ENSP00000365272
DLG4	P78352³, ENSP00000293813⁴	I2D: score=3 STRING: ENSP00000293813

About this table

Gene Ontology (GO): 5/35 biological process terms (GO ID links to tree view) (see all 35): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000902	cell morphogenesis	--	--
GO:0003407	neural retina development	--	--
GO:0006754	ATP biosynthetic process	IEA	--
GO:0006810	transport	NAS	1313367
GO:0006816	calcium ion transport	IMP	17234811

ATP2B2 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

ATP2B2 for compounds About GeneDecksing

EMD Millipore small molecules for ATP2B2:
Small Molecule - inhibitor

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Browse Tocris compounds for ATP2B2

6 HMDB Compounds for ATP2B2 About this table

Compound	Synonyms	CAS #	PubMed Ids
ADP	adenosindiphosphorsaeure (see all 8)	58-64-0	--
Adenosine triphosphate	5'-(tetrahydrogen triphosphate) Adenosine (see all 24)	56-65-5	--
Calcium	Ca (see all 2)	7440-70-2	--
Magnesium	Magnesium (see all 2)	7439-95-4	--
Phosphate	NFB Orthophosphate (see all 13)	14265-44-2	--
Water	Dihydrogen oxide (see all 2)	7732-18-5	--

1 Novoseek chemical compound relationship for ATP2B2 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
calcium	41.7	14	19365819 (2), 17208398 (1), 7587388 (1), 17999165 (1) (see all 8)

Search CenterWatch for drugs/clinical trials and news about ATP2B2 / AT2B2

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for ATP2B2 gene (2 alternative transcripts):

NM_001001331.2 NM_001683.3

Unigene Cluster for ATP2B2:

ATPase, Ca++ transporting, plasma membrane 2

Hs.268942 [show with all ESTs]

Unigene Representative Sequence: NM_001001331

10 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000352432(uc010hdo.3) ENST00000383800(uc003bvv.3) ENST00000460129(uc003bvs.3)

ENST00000397077(uc003bvw.3) ENST00000452124 ENST00000467702 ENST00000468426

ENST00000480680(uc010hdp.2) ENST00000360273(uc003bvt.3) ENST00000343816

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Additional cDNA sequence:

AB210008.1 AK308898.1 BC019853.1 BC128575.1 DQ201777.1 DQ201778.1 L00620.1 L20977.1

M97260.1 S95738.1 S95743.1 S95758.1 U15688.1 X63575.1

10 DOTS entries:

DT.442590 DT.100746837 DT.101979735 DT.100746836 DT.120861250 DT.40125280 DT.91649950 DT.91725839

DT.92416395 DT.97835031

24/107 AceView cDNA sequences (see all 107):

BF108567 T07949 AA363898 CB156994 AI459315 F07516 NM_001001331 Z98483

NM_001683 BQ718882 BX489007 T28048 AA324771 AV728878 AI217770 BE701553

AA984150 AV657425 BF515393 L00620 AL134595 X63575 CA391502 BX281801

GeneLoc Exon Structure

5/8 Alternative Splicing Database (ASD) splice patterns (SP) for ATP2B2 (see all 8) About this scheme

ExUns:	1	^	2	^	3	^	4	^	5	^	6	^	7	^	8	^	9a	·	9b	^	10a	·	10b	^	11a	·	11b	^	12	^	13	^	14	^	15a	·	15b	^	16	^	17	^	18	^	19	^	20	^	21	^	22	^
SP1:
SP2:
SP3:											-		-		-
SP4:
SP5:

ExUns:	23	^	24	^	25a	·	25b
SP1:
SP2:
SP3:
SP4:	-		-
SP5:

ECgene alternative splicing isoforms for ATP2B2

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

ATP2B2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GGGTACGTTT

About this image

ATP2B2 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Spinal Cord

Spinal Ventral Columns

Ventral Spinal Cord Progenitor Cells

Motor Neurons

Spinal Cord

Spinal Ventral Columns

Spinal Cord

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See ATP2B2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ATP2B2

SOURCE GeneReport for Unigene cluster: Hs.268942

UniProtKB/Swiss-Prot: AT2B2_HUMAN, Q01814

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

SABiosciences Expression via Pathway-Focused PCR Arrays including ATP2B2:

Parkinson's Disease in human mouse rat

Huntington's Disease in human mouse rat

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for ATP2B2 gene from 8/32 species (see all 32) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	ATP2B2¹	ATPase, Ca++ transporting, plasma membrane 2	79.75(n) 93.97(a)		415958 XM_001231641.2 XP_001231642.1
lizard (Anolis carolinensis)	Reptilia	ATP2B2⁶	--	90(a)	1 ↔ 1	2(156967384-157098927)
zebrafish (Danio rerio)	Actinopterygii	Dr.11302²	Transcribed sequence with moderate similarity to protein more	82.96(n)		BI842552.1
fruit fly (Drosophila melanogaster)	Insecta	BEST:CK01140³	calcium-transporting ATPase	63(a)		102B5 --
worm (Caenorhabditis elegans)	Secernentea	R05C11.3³	ATPase	59(a) (best of 2)		IV(2084056-2091420) --
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	PMC1¹	Pmc1p	47.63(n) 42.47(a)		852878 NP_011509.1
thale cress (Arabidopsis thaliana)	eudicotyledons	ACA11¹	Ca2+-transporting ATPase	50.45(n) 45.23(a)		824900 NM_115593.6 NP_191292.1
rice (Oryza sativa)	Liliopsida	AK066259.1²	--	70.74(n)		AK066259.1

ENSEMBL Gene Tree for ATP2B2 (if available)
TreeFam Gene Tree for ATP2B2 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for ATP2B2 gene

ATP2B1² ATP2B3² ATP2B4²

6 SIMAP similar genes for ATP2B2 using alignment to 6 protein entries: AT2B2_HUMAN (see all proteins):

ATP2B2 variant protein PMCA2 ATP2B1 DKFZp686M088 ATP2B3 ATP2B4

ATP2B2 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 3 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs61736451^1,2	C,F	pathogenic	10401576(+)	`GAGCAC/TGATCT`	4	M V	mis¹		3		NS NA EU	5953
rs144440884^1,2		--	10365242(+)	`GCAGA-/GGTTTGTGAAG TCCAGACTCCTCAGGTGCC`	2	--	ds500¹		0	--	--	--	--
rs74801975^1,2	C	--	10365291(+)	`CTTACC/TCCTCT`	2	--	ds500¹		0	--	--	--	--
rs117634050^1,2	F	--	10365339(+)	`ATTCCG/CCATCT`	2	--	ds500¹		1		EA	120
rs58949655^1,2	C	--	10365400(+)	`TTGCCC/ACCCCA`	2	--	ds500¹		4		WA NA EA	360
rs138690982^1,2		--	10365404(+)	`CCCCCA/CACCCC`	2	--	ds500¹		0	--	--	--	--
rs142696375^1,2		--	10365564(+)	`GGAAGA/GAGAGA`	2	--	ds500¹		0	--	--	--	--
rs3776^1,2	C,F	--	10365803(+)	`ATACAG/CAGAAA`	2	--	ut3¹ ese³		7		MN NA WA	438
rs76001772^1,2	F	--	10365814(+)	`TAAAGA/GGTGTA`	2	--	ut3¹		1		WA	118
rs181058800^1,2		--	10365816(+)	`AAGAGC/TGTACA`	2	--	ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for ATP2B2 (10365707 - 10615707 bp, first 250kb of ATP2B2)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 10 variations for ATP2B2
1 CNV: 98230
9 Indels: 46263 98231 42655 91183 79672 59081 62031 79673 91184
Human Gene Mutation Database (HGMD): ATP2B2

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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ATP2B2 for disorders           About GeneDecksing

OMIM gene information: 108733
OMIM disorders: 601386
19 diseases for ATP2B2:    About MalaCards

deafness, autosomal recessive 12 deafness, autosomal recessive 12, modifier of atrioventricular septal defect hearing loss

essential hypertension multiple sclerosis huntington's disease encephalomyelitis

parkinson's disease hypertension choroiditis breast cancer

pneumonia neuroblastoma schizophrenia tuberculosis

pancreatitis neuronitis mycobacterium tuberculosis

Human Genome Epidemiology (HuGE) Navigator: ATP2B2 (6 documents)

Export disorders for ATP2B2 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for ATP2B2 gene, integrated from 9 sources (see all 63):
(articles sorted by number of sources associating them with ATP2B2)

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Microdiversity of human-plasma-membrane calcium-pump isoform 2 generated by alternative RNA splicing in the N-terminal coding region. (PubMed id 1313367)^{1, 2, 3} Heim R.... Carafoli E. (1992)
Determination of the nucleotide sequence and chromosomal localization of the ATP2B2 gene encoding human Ca(2+)-pumping ATPase isoform PMCA2. (PubMed id 1427863)^{1, 2, 9} Brandt P.... Neve R.L. (1992)
Quantitative analysis of alternative splicing options of human plasma membrane calcium pump genes. (PubMed id 7989379)^{1, 2} Stauffer T.P....Strehler E.E. (1994)
Quantitative analysis of alternative splicing options of human plasma membrane calcium pump genes. (PubMed id 8245032)^{1, 2} Stauffer T.P.... Strehler E.E. (1993)
von Hippel-Lindau syndrome: cloning and identification of the plasma membrane Ca(++)-transporting ATPase isoform 2 gene that resides in the von Hippel-Lindau gene region. (PubMed id 8428366)^{1, 2} Latif F.... Lerman M.I. (1993)
Alternative splicing of the first intracellular loop of plasma membrane Ca2+-ATPase isoform 2 alters its membrane targeting. (PubMed id 12624087)^{1, 9} Chicka M.C. and Strehler E.E. (2003)
Mutations in a plasma membrane Ca2+-ATPase gene cause deafness in deafwaddler mice. (PubMed id 9697703)^{1, 9} Street V.A....Noben-Trauth K. (1998)
Plasma membrane calcium-ATPase 2 and 4 in human breast cancer cell lines. (PubMed id 16216224)^{1, 9} Lee W.J....Monteith G.R. (2005)
Proteome-wide identification of ubiquitylation sites b y conjugation of engineered lysine-less ubiquitin. (PubMed id 22053931)¹ Oshikawa K....Nakayama K.I. (2012)
Hair cells, plasma membrane Ca^^+ ATPase and deafness. (PubMed id 22349217)¹ Giacomello M....Carafoli E. (2012)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 491	HGNC: 815	AceView: ATP2B2	Ensembl:ENSG00000157087	euGenes: HUgn491
ECgene: ATP2B2	Kegg: 491	H-InvDB: ATP2B2

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for ATP2B2	Pharmacogenomics, SNPs, Pathways

Intellectual Property for ATP2B2 gene
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Patent Information for ATP2B2 gene:
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ATP2B2 Gene

ATPase, Ca++ transporting, plasma membrane 2

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ATP2B2 Gene

ATPase, Ca++ transporting, plasma membrane 2

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