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ATP2A2 Gene

protein-coding GIFtS: 71

GC12P109182

ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: ATP2B, DAR)

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
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Aliases
ATP2B ^², ³, ⁵
DAR ^², ⁵
DD ^²
DKFZp686P0211 ^²
EC 3.6.3.8 ^³
FLJ20293 ^²
FLJ38063 ^²
MGC45367 ^²
SERCA2 ^¹, ², ³

Descriptions
ATPase, Ca++ dependent, slow-twitch, cardiac muscle-2 ^²
ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 ^²
ATPase, Ca++ transporting, slow twitch 2 ^²
Calcium pump 2 ^², ³
Calcium-transporting ATPase sarcoplasmic reticulum type, slow twitch skeletal muscle isoform ^², ³
Endoplasmic reticulum class 1/2 Ca(2+) ATPase ^², ³
SR Ca(2+)-ATPase 2 ^², ³
cardiac Ca2+ ATPase ^²
sarcoplasmic/endoplasmic reticulum calcium ATPase 2 ^²

External Ids
HGNC: 812¹
Entrez Gene: 488²
UniProtKB: P16615³
Ensembl: ENSG00000174437⁷

Search outside databases for aliases for ATP2A2 gene

Previous GC identifers: GC12P109794 GC12P110566

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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EntrezGene summary for ATP2A2:

This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the

sarcoplasmic or endoplasmic reticula of muscle cells. This enzyme catalyzes the hydrolysis of ATP

coupled with the translocation of calcium from the cytosol into the sarcoplasmic reticulum lumen,

and is involved in regulation of the contraction/relaxation cycle. Mutations in this gene cause

Darier-White disease, also known as keratosis follicularis, an autosomal dominant skin disorder

characterized by loss of adhesion between epidermal cells and abnormal keratinization. Alternative

splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq]

UniProtKB/Swiss-Prot: AT2A2_HUMAN, P16615

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

translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen. Isoform SERCA2A is

involved in the regulation of the contraction/relaxation cycle

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
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Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the ATP2A2 gene

Entrez Gene cytogenetic band: 12q23-q24.1 Ensembl cytogenetic band: 12q24.11 HGNC cytogenetic band: 12q23-q24.1

ATP2A2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 12 GeneLoc Exon Structure

GeneLoc location for GC12P109182: (about GC identifiers)

Start:	109,203,815 bp from pter
End:	109,273,278 bp from pter
Size:	69,464 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000012.10 NT_009775.16

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: AT2A2_HUMAN, P16615 (See protein sequence)

Recommended Name: Sarcoplasmic/endoplasmic reticulum calcium ATPase 2

Size: 1042 amino acids; 114757 Da

Subunit: Associated with phospholamban (PLN) (By similarity)

Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein. Sarcoplasmic

reticulum membrane; Multi-pass membrane protein

Secondary accessions: P16614

Alternative splicing: 2 isoforms: P16615-1 P16615-2 (SERCA2 transcripts differ only in their 3'-UTR region and are expressed in a tissue-specific manner)

Post-translational modifications:

Nitrated under oxidative stress. Nitration on the two tyrosine residues inhibits catalytic activity¹

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (3 alternative transcripts):

NP_001129237.1 NP_001672.1 NP_733765.1

ENSEMBL proteins:

ENSP00000311186 ENSP00000366913 ENSP00000324892

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (SERCA2 ATPase)
	Human Recombinant Proteins from Abnova (ATP2A2)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

5 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005624	membrane fraction	TAS	2844796
GO:0005792	microsome	TAS	2844796
GO:0005887	integral to plasma membrane	TAS	2844796
GO:0016020	membrane	IEA	--
GO:0033017	sarcoplasmic reticulum membrane	IEA	--

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Antibodies for ATP2A2:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Sigma-Aldrich Antibodies for ATP2A2
	Browse R&D Systems for Antibodies
	Antibodies from Abcam (SERCA2 ATPase), each with their Abpromise^SM
	Browse Abnova for Monoclonal and Polyclonal Antibodies
	Novus Biologicals Antibody for ATP2A2

Assays for ATP2A2:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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Graphical View of Domain Structure for InterPro Entry P16615

ProtoNet protein and cluster: P16615

4 Blocks protein families:

IPB000695 H+-transporting ATPase (proton pump) signature

IPB001757 ATPase

IPB006068 Cation transporting ATPase

IPB008250 E1-E2 ATPase-associated region

UniProtKB/Swiss-Prot: AT2A2_HUMAN, P16615

Similarity: Belongs to the cation transport ATPase (P-type) family. Type IIA subfamily

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (ATP2A2)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (ATP2A2)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): NM_001135765

Applied Biosystems Silencer® siRNAs for ATP2A2

Sigma-Aldrich siRNA and siRNA Panels for ATP2A2

Sigma-Aldrich shRNA Panels and shRNA for ATP2A2

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clone Ranger at Invitrogen for clones
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 3): NM_001135765
Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): NM_001135765
untagged cDNA clones in CMV expression vector (see all 3): NM_001135765

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_170665

UniProtKB/Swiss-Prot: AT2A2_HUMAN, P16615

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

translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen. Isoform SERCA2A is

involved in the regulation of the contraction/relaxation cycle

Catalytic activity: ATP + H(2)O + Ca(2+)(Cis) = ADP + phosphate + Ca(2+)(Trans)

Enzyme regulation: Reversibly inhibited by phospholamban (PLN) at low calcium concentrations.

Dephosphorylated PLN decreases the apparent affinity of the ATPase for calcium. This inhibition is

regulated by the phosphorylation of PLN (By similarity)

Enzyme Number (IUBMB): EC 3.6.3.8

Genatlas biochemistry entry for ATP2A2:

ATPase,Ca++ transporting,expressed in the sarcoplasmic reticullum of the heart (SERCA2A) rate

determining factor of Ca2+ reuptake into the SR,regulated by phospholamban,also expressed in the

heart,slow-twitch muscle,highly expressed in keratinocytes,including two isoforms,a (D12S2026),b

(D12S1965). Ca2+ pump,playing a pivotal role in intracellular Ca2+ signaling

13 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Atp2a2):

	behavior/neurological	digestive/alimentary	growth/size	homeostasis/metabolism
lethality-prenatal/perinatal	life span-post-weaning/aging	muscle	renal/urinary system	reproductive system
respiratory system	skin/coat/nails	tumorigenesis

5/8 Gene Ontology (GO) molecular function terms (links to tree view) (see all 8 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000166	nucleotide binding	IEA	--
GO:0000287	magnesium ion binding	IEA	--
GO:0005388	calcium-transporting ATPase activity	TAS	2844796
GO:0005509	calcium ion binding	IEA	--
GO:0005524	ATP binding	IEA	--

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(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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4 Sigma-Aldrich "Your Favorite Gene" Pathways for ATP2A2 (Your Favorite Gene powered by Ingenuity)

Cardiac &beta
Nitric Oxide Signaling in the Cardiovascular System
Calcium Signaling
Calcium-induced T Lymphocyte Apoptosis

GeneDecks ATP2A2 for the pathways selected above

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Gene Network Central^TM Interacting Genes and Proteins Network for ATP2A2

5/38 Interacting proteins for ATP2A2 (ENSP00000366913³ P16615^{1, 2}) via UniProtKB, MINT, and/or STRING (see all 38 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PTP4A3	O75365¹	EBI-358933, EBI-1043866
TNFRSF1A	P19438²	MINT-49362
TNFRSF1B	P20333²	MINT-49456
TRADD	Q15628²	MINT-49496
TRAF6	Q9Y4K3²	MINT-49609

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5/10 Gene Ontology (GO) biological process terms (links to tree view) (see all 10 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0002026	regulation of the force of heart contraction	IEA	--
GO:0006754	ATP biosynthetic process	IEA	--
GO:0006812	cation transport	IEA	--
GO:0006874	cellular calcium ion homeostasis	IEA	--
GO:0006984	ER-nuclear signaling pathway	IEA	--

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
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Enzo Life Sciences drugs & compounds for ATP2A2

Browse Small Molecules at Sigma-Aldrich

Compounds for ATP2A2 available from Tocris Bioscience

Compound	Action	CAS number
Cyclopiazonic acid	Inhibitor of SERCA ATPase	[18172-33-3]
POM 1	Inhibitor of E-NTPDases	[12141-67-2]
BHQ	Inhibitor of SERCA ATPase	[88-58-4]
Thapsigargin	Potent inhibitor of SERCA ATPase	[67526-95-8]

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7 Novoseek chemical compound relationships for ATP2A2 gene

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
calcium	67.39	175	9244202 (5), 16105684 (4), 2146166 (4), 15840101 (4) (see all 73)
ryanodine	62.56	7	11489771 (2), 11576540 (1), 15792839 (1), 16476846 (1) (see all 6)
ribonucleic acid	7.48	1	15582321 (1)
oxygen	0.00	1	18172601 (1)
nadh	0.00	2	10603952 (1), 9833153 (1)
nitric oxide	0.00	1	17257557 (1)
glycogen	0.00	1	18528823 (1)

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1 PharmGKB drug compound relationship for ATP2A2 gene

Drug compound	PharmGKB Relations	PubMed IDs for articles supporting these relationships
antiarrhythmics	FA GN	2936465 2844796 8406504

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(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (ATP2A2)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (ATP2A2)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): NM_001135765

Sigma-Aldrich siRNA and siRNA Panels for ATP2A2

Sigma-Aldrich shRNA Panels and shRNA for ATP2A2

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_001135765 NM_001681 NM_170665

REFSEQ mRNAs for ATP2A2 gene (3 alternative transcripts):

NM_001135765.1 NM_001681.3 NM_170665.3

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_001135765 NM_001681 NM_170665

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 3): NM_001135765
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): NM_001135765
                                 untagged cDNA clones in CMV expression vector (see all 3): NM_001135765

Additional cDNA sequence:

AK000300.1 AK095382.1 AK293877.1 AL117505.1 AY186578.1 BC035588.1 BC065753.1 BX648282.1

M23114.1 M23115.1

24/25 DOTS entries (see all 25 ):

DT.100038203 DT.95109821 DT.91701524 DT.80100763 DT.121180770 DT.92464965 DT.121180724 DT.100798281

DT.100798282 DT.95264928 DT.121180743 DT.92464936 DT.100798277 DT.121180727 DT.121180816 DT.40192639

DT.91662034 DT.92011905 DT.92464952 DT.95264914 DT.100726768 DT.121180689 DT.40133548 DT.91651181

24/903 AceView cDNA sequences (see all 903 ):

CB108057 M78207 F00016 BU690067 N30396 N42078 BQ016651 BM975793

CD516017 AL117505 M23114 F03943 BM924379 CD677016 BQ691462 F30959

BG370203 BQ216713 H08318 CA395151 T28609 BM983152 F04948 BU678823

highest scoring ESTs for ATP2A2:

M23115 AA019144 AA026622 AA029289 AA035718 AA086450 AA095147 AA192119 AA192692 AA196190

Unigene Cluster for ATP2A2:

ATPase, Ca++ transporting, cardiac muscle, slow twitch 2

Hs.506759 [show with all ESTs]

Unigene Representative Sequence: NM_170665

GeneLoc Exon Structure

3 Ensembl transcripts including schematic representations:

ENST00000308664 ENST00000377685 ENST00000313432

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
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ATP2A2 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for ATP2A2

¹ / ² / ³

12 probe-sets matching ATP2A2 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
79971_r_at²^{, 3}	U95-E	1	1.00	1.00	0.61	0.96	AI671237	0.60	1.00	0.82	1
39791_at²^{, 3}	U95-A	1	1.00	1.00	-0.43	1.06	M23114	0.80	1.00	0.91	1
83506_at²^{, 3}	U95-E	1	1.00	1.00	0.87	0.92	N31046	0.60	1.00	0.82	1
39790_at²^{, 3}	U95-A	2	1.00	0.97	0.96	1.09	M23115	1.00	1.00	1.00	1
209186_at²^{, 3}	U133-A	1	1.00	1.00	--	--	M23114	0.80	1.00	0.91	1
212362_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AA805753	0.40	1.00	0.76	1
212361_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AW190070	0.80	1.00	0.91	1
239996_x_at²^{, 3}	U133-B	2	1.00	0.95	--	--	AI671237	0.60	1.00	0.82	1
209186_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
212362_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
212361_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
239996_x_at²	U133Plus2	2	1.00	0.95	--	--	--	--	--	--	--

GeneDecks ATP2A2 for binary patterns associated with the probe-sets selected above

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: GTTTCAGGTA

SOURCE GeneReport for Unigene cluster: Hs.506759
Expression variation in blood from EXPOLDB for ATP2A2
UniProtKB/Swiss-Prot: AT2A2_HUMAN, P16615
Tissue specificity: Isoform SERCA2A is highly expressed in heart and slow twitch skeletal muscle.
Isoform SERCA2B is widely expressed, in smooth muscle and nonmuscle tissues such as in adult skin
epidermis

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
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Orthologs for ATP2A2 gene from 5/13 species (see all 13 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	ATP2A2¹	--	ATPase, Ca++ transporting, cardiac muscle, slow twitch more	92.31(n) 99.09(a)	403878 NM_001003214.1 NP_001003214.1
chimpanzee (Pan troglodytes)	ATP2A2¹	--	ATPase, Ca++ transporting, cardiac muscle, slow twitch more	99.52(n) 99.52(a)	452231 XM_001141715.1 XP_001141715.1
cow (Bos taurus)	ATP2A2¹	--	ATPase, Ca++ transporting, cardiac muscle, slow twitch more	93.02(n) 98.69(a)	540568 XM_612129.3 XP_612129.2
rat (Rattus norvegicus)	Atp2a2¹	--	ATPase, Ca++ transporting, cardiac muscle, slow twitch more	90.21(n) 99.04(a)	29693 NM_017290.1 NP_058986.1
mouse (Mus musculus)	Atp2a2^{1, 5}	5 (65.00 cM)⁵	ATPase, Ca++ transporting, cardiac muscle, slow twitch more^{1, 5}	90.12(n)¹ 98.99(a)¹	11938¹ NM_009722.2¹ NP_033852.1¹ AA003458⁵ AA245637⁵ (see all 42)

About this table Species with no ortholog for ATP2A2

ENSEMBL Gene Tree for ATP2A2

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
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Paralogs for ATP2A2 gene

ATP2A3² ATP2A1²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
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10/302 NCBI SNPs in ATP2A2 are shown (see all 302 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 108)

AB	SNP ID	Valid	Chr 12 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
	rs2339511^1,2	A,C,F,H	109273755(+)	`CATTTG/ACTGGT`	1	--	ng3¹		7		EU EA WA NA	562
	rs9540^1,2	A,C,F,H	109273238(+)	`AGCGTC/TGCACA`	3	--	ut3¹ ese³		3		MN EU WA	404
	rs3026490^1,2	C,F,H	109269892(+)	`TGTTCG/AAGATG`	3	--	ut3¹ int¹		7		NA EU EA WA	560
	rs11065633^1,2	C,F,H	109270633(+)	`ATGGCC/TAGTAG`	3	--	int¹ ut3¹		4		EU EA WA	418
	rs3026489^1,2	C,F,H	109268961(+)	`AAAAAT/CAGTTG`	3	--	int¹ ut3¹		4		EU EA WA	418
	rs4344555^1,2	F,H	109202659(+)	`TCCTAG/TCCCAA`	2	--	ng5¹		3		EA WA	274
	rs3026493^1,2	F,H	109271358(+)	`TGAAGG/CCTTTG`	3	--	int¹ ut3¹		4		EU EA WA	416
	rs3026433^1,2	C	109203575(+)	`CCTCGC/GCGCGT`	3	--	ut5¹		0	--	--	--	--
--	rs11613610^1,2	C	109270821(+)	`TTGGAA/GGCCAC`	3	--	ut3¹ int¹		0	--	--	--	--
	rs3415^1,2	C	109273140(+)	`ATCTTA/CATAAA`	3	--	ut3¹		0	--	--	--	--

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HapMap Linkage Disequilibrium images for ATP2A2 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
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OMIM: 108740 disorders: 124200 101900

UniProtKB/Swiss-Prot: AT2A2_HUMAN, P16615

Defects in ATP2A2 are a cause of acrokeratosis verruciformis (AKV) [MIM:101900]; also

known as Hopf disease. AKV is a localized disorder of keratinization, which is inherited as an

autosomal dominant trait. Its onset is early in life with multiple flat-topped, flesh-colored

papules on the hands and feet, punctate keratoses on the palms and soles, with varying degrees of

nail involvement. The histopathology shows a distinctive pattern of epidermal features with

hyperkeratosis, hypergranulosis, and acanthosis together with papillomatosis. These changes are

frequently associated with circumscribed elevations of the epidermis that are said to resemble

church spires. There are no features of dyskeratosis or acantholysis, the typical findings in

lesions of Darier disease

Defects in ATP2A2 are the cause of Darier disease (DD) [MIM:124200]; also known as

Darier-White disease (DAR). DD is an autosomal dominantly inherited skin disorder characterized by

loss of adhesion between epidermal cells (acantholysis) and abnormal keratinization. Patients with

mild disease may have no more than a few scattered keratotic papules or subtle nail changes,

whereas those with severe disease are handicapped by widespread malodorous keratotic plaques. In a

few families, neuropsychiatric abnormalities such as mild mental retardation, schizophrenia,

bipolar disorder and epilepsy have been reported. Stress, UV exposure, heat, sweat, friction, and

oral contraception exacerbate disease symptoms. Prevalence has been estimated at 1 in 50000

10/18 Novoseek disease relationships for ATP2A2 gene (see all 18 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
darier disease	97.34	92	12890216 (4), 12974140 (4), 11244492 (2), 12542527 (2) (see all 61)
hailey-hailey disease	84.44	5	18060195 (1), 15888147 (1), 16029335 (1), 15149492 (1)
acrokeratosis verruciformis	80.96	2	12542527 (2)
skin diseases	66.41	11	11389134 (1), 15327552 (1), 16397524 (1), 15888147 (1) (see all 9)
heart failure	56.23	13	16902596 (3), 9476544 (1), 10603952 (1), 9244202 (1) (see all 10)
affective disorder major	45.48	2	11986988 (1)
cardiac hypertrophy	42.53	4	9587474 (1), 16902596 (1), 8930809 (1), 10750595 (1)
bipolar disorder	37.36	4	11244492 (2), 11986988 (1)
mood disorders	32.41	1	11986988 (1)
hypertrophy	28.44	2	11489771 (1), 16902596 (1)

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Human Gene Mutation Database: ATP2A2
Genetic Association Database: ATP2A2
Human Genome Epidemiology Navigator: ATP2A2 (5 documents)

(Possibly Related Articles in Doctor's Guide)
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(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
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10/220 PubMed articles for ATP2A2 gene (see all 220 ):

ATP2A2 mutations in Darier's disease: variant cutaneous phenotypes are associated with missense mutations, but neuropsychiatric features are independent of mutation class. (PubMed id 10441324)^{1, 3, 4, 6} Ruiz-Perez V.L.... Strachan T. (1999)
Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease. (PubMed id 10080178)^{1, 2, 3, 4} Sakuntabhai A.... Hovnanian A. (1999)
Chromosome mapping of five human cardiac and skeletal muscle sarcoplasmic reticulum protein genes. (PubMed id 8406504)^{1, 3, 7} Otsu K....MacLennan D.H. (1993)
Molecular cloning of cDNAs from human kidney coding for two alternatively spliced products of the cardiac Ca2+-ATPase gene. (PubMed id 2844796)^{3, 4, 7} Lytton J. and Maclennan D.H. (1988)
ATP2A2 mutations in Darier's disease and their relationship to neuropsychiatric phenotypes. (PubMed id 10441325)^{1, 3, 4} Jacobsen N.J.O.... Owen M.J. (1999)
Spectrum of novel ATP2A2 mutations in patients with Darier's disease. (PubMed id 10441323)^{1, 3, 4} Sakuntabhai A.... Hovnanian A. (1999)
Exclusion of the Darier's disease gene, ATP2A2, as a common susceptibility gene for bipolar disorder. (PubMed id 11244492)^{1, 3, 6} Jacobsen N.J....Craddock N. (2001)
Acrokeratosis verruciformis of Hopf is caused by mutation in ATP2A2: evidence that it is allelic to Darier's disease. (PubMed id 12542527)^{1, 3, 4} Dhitavat J.... Hovnanian A. (2003)
Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)^{3, 4} Olsen J.V....Mann M. (2006)
Large-scale characterization of HeLa cell nuclear phosphoproteins. (PubMed id 15302935)^{3, 4} Beausoleil S.A....Gygi S.P. (2004)

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 488	HGNC: 812	AceView: ATP2A2	Ensembl:ENSG00000174437	euGenes: HUgn488
ECgene: ATP2A2	H-InvDB: ATP2A2

(According to HUGE)
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(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
ATLAS Chromosomes in Cancer entry for ATP2A2	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.genetests.org/query?gene=ATP2A2

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(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
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ATP2A2 Gene

protein-coding GIFtS: 71

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Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

ATP2A2 Gene

protein-coding GIFtS: 71

Aliases & Descriptionsfor ATP2A2

Summariesfor ATP2A2

Genomic Locationfor ATP2A2

Proteinsfor ATP2A2

Protein Domains/Familiesfor ATP2A2

Gene Functionfor ATP2A2

Pathways & Interactionsfor ATP2A2

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Expression for ATP2A2

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Medical Newsfor ATP2A2

Publicationsfor ATP2A2

Search for ATP2A2

Genome Databases showing ATP2A2

Other Databases showing ATP2A2

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Servicesfor ATP2A2

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for ATP2A2

Summaries
for ATP2A2

Genomic Location
for ATP2A2

Proteins
for ATP2A2

Protein Domains/
Families
for ATP2A2

Gene Function
for ATP2A2

Pathways & Interactions
for ATP2A2

Drugs & Compounds
for ATP2A2

Transcripts
for ATP2A2

Expression
for ATP2A2

Orthologs
for ATP2A2

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for ATP2A2

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Disorders & Mutations
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Medical News
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for ATP2A2

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for ATP2A2

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