Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

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Basic Info

Approved Symbol	ATP2A2
Previous Symbol	ATP2B, DAR
Symbol Alias	SERCA2
Approved Name	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
Name Alias	sarcoplasmic/endoplasmic reticulum calcium ATPase 2, "calcium pump 2"
Location	12q24.11
Position	chr12:110280756-110351093, 1
External Links	HGNC: 812 Entrez Gene: 488 Ensembl: ENSG00000174437 UCSC: uc001tqk.4
No. of Studies	2 (Positive: 0; Negative: 2; trend: 0)
Overlap with SZ?	NO
Overlap with MDD?	NO

Gene related studies (count: 2)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Jacobsen, N. J.,2001(b)	Other variant: ATP2A2_exon1_87C/T, ATP2A2_exon15_2172G/A, ATP2A2_exon15_2295G/A, ATP2A2_exon18_2697G/T, ATP2A2_intron3_220-18G/A, ATP2A2_promoter_-2549G/A	Analysis of allele and genotype distributions for all six variations, and of haplotype frequencies showed no evidence for the involvement of ATP2A2 in producing susceptibility to bipolar disorder.	Negative	Comment on Study
Xu, W., 2014	SNP: rs11065615	In addition, a SNP in ATP2A2, the Darier disease gene (MIM#124200) also showed suggestive association (p = 2.67Ã—10-5).	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 40)

GO terms by PBA (count: 4)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0016020	membrane	cellular component	IDA[22375059]	137
GO:0005509	calcium ion binding	molecular function	IDA[16402920]	50
GO:0005887	integral component of plasma membrane	cellular component	TAS[2844796]	158
GO:0007155	cell adhesion	biological process	TAS[10080178]	42

GO terms by database search (count: 36)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0008544	epidermis development	biological process	TAS[10080178]	7
GO:0005524	ATP binding	molecular function	IEA	118
GO:0033017	sarcoplasmic reticulum membrane	cellular component	IC[16402920]; TAS[19095005]	2
GO:0044548	S100 protein binding	molecular function	IPI[12804600]	2
GO:0008152	metabolic process	biological process	IEA	50
GO:0031095	platelet dense tubular network membrane	cellular component	TAS	1
GO:0090534	calcium ion-transporting ATPase complex	cellular component	IDA[16402920]	1
GO:0055085	transmembrane transport	biological process	TAS	77
GO:0010460	positive regulation of heart rate	biological process	TAS[22679139]	3
GO:1903515	calcium ion transport from cytosol to endoplasmic reticulum	biological process	IDA[16402920]	1
GO:0014801	longitudinal sarcoplasmic reticulum	cellular component	IDA[16402920]	1
GO:0032469	endoplasmic reticulum calcium ion homeostasis	biological process	IDA[10587333]	3
GO:0055119	relaxation of cardiac muscle	biological process	IDA[10587333]	4
GO:0005515	protein binding	molecular function	IPI[17526652]	563
GO:0010882	regulation of cardiac muscle contraction by calcium ion signaling	biological process	IDA[10587333]	3
GO:0014704	intercalated disc	cellular component	IDA[16402920]	8
GO:0034220	ion transmembrane transport	biological process	TAS	50
GO:0005789	endoplasmic reticulum membrane	cellular component	IDA[11402072]; TAS	52
GO:0098909	regulation of cardiac muscle cell action potential involved in regulation of contraction	biological process	ISS	1
GO:0019899	enzyme binding	molecular function	IPI[21903937]	34
GO:0032470	positive regulation of endoplasmic reticulum calcium ion concentration	biological process	IDA[16402920]	1
GO:0006874	cellular calcium ion homeostasis	biological process	IDA[10587333]	16
GO:0007596	blood coagulation	biological process	TAS	44
GO:0005388	calcium-transporting ATPase activity	molecular function	IDA[16402920]	1
GO:0070588	calcium ion transmembrane transport	biological process	IDA[16402920]	24
GO:0002026	regulation of the force of heart contraction	biological process	IEA	5
GO:0005783	endoplasmic reticulum	cellular component	IDA[16081076]	49
GO:0045822	negative regulation of heart contraction	biological process	IEA	4
GO:1990036	calcium ion import into sarcoplasmic reticulum	biological process	IC[16402920]; ISS	1
GO:0016529	sarcoplasmic reticulum	cellular component	IDA[12804600]	6
GO:0008022	protein C-terminus binding	molecular function	IEA; IPI[14749390]	21
GO:0006984	ER-nucleus signaling pathway	biological process	IEA	1
GO:0070296	sarcoplasmic reticulum calcium ion transport	biological process	TAS[19095005]	4
GO:0086036	regulation of cardiac muscle cell membrane potential	biological process	IC[16402920]; ISS; TAS[22679139]	2
GO:0086039	calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential	molecular function	IC[16402920]; ISS; TAS[22679139]	1
GO:0034976	response to endoplasmic reticulum stress	biological process	ISS	9

Gene related KEGG pathways (count: 1)

KEGG pathways by PBA (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04020	Calcium signaling pathway	53

KEGG pathways by database search (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 4)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
ATP2A2	S100A1	NO	in vitro;in vivo	12804600
ATP2A2	IRS2	NO	in vitro;in vivo	9295312
ATP2A2	IRS1	NO	in vitro;in vivo	9295312
ATP2A2	PLN	YES	in vitro;in vivo	11854448 , 11526231 , 10809745

Related other genetic factors

Gene related SNPs (count: 2)

Literature-origin SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs11065615	chr12:110292808 - 110292808(1)	intron_variant; NMD_transcript_variant; upstream_gene_variant	1(0/1/0)

LD-proxies (count: 1)

rs_ID	Literature-origin SNPs with LD	Location	Functional Annotation
rs3026469		chr12:110320546 - 110320546(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 6)

Variant Name	Variant Type	Location in Gene	No. of Studies (Positive/Negative/Trend)
ATP2A2_exon18_2697G/T	point mutation	exon18	1 (0/1/0)
ATP2A2_exon15_2295G/A	point mutation	exon15	1 (0/1/0)
ATP2A2_exon15_2172G/A	point mutation	exon15	1 (0/1/0)
ATP2A2_promoter_-2549G/A	point mutation	promoter	1 (0/1/0)
ATP2A2_intron3_220-18G/A	point mutation	intron3	1 (0/1/0)
ATP2A2_exon1_87C/T	point mutation	exon1	1 (0/1/0)

Gene related regions (count: 4)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 12	chr12:0-133275309	3 (0/3/0)
12q24	chr12:108600000-133275309	4 (1/1/2)
12q23-q24	chr12:95800000-133275309	3 (2/0/1)
12q	chr12:38200000-133851895	1 (1/0/0)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Gene relationship with MDD

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Region: chr12:110280756..110351093 View in gBrowse