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	ATP1A3
Previous Symbol	DYT12
Approved Name	ATPase, Na+/K+ transporting, alpha 3 polypeptide
Previous Name	dystonia 12
Name Alias	sodium/potassium-transporting ATPase subunit alpha-3, "sodium pump subunit alpha-3", "sodium-potassium ATPase catalytic subunit alpha-3"
Location	19q13.2
Position	chr19:41966582-41997497, -1
External Links	HGNC: 801 Entrez Gene: 478 Ensembl: ENSG00000105409 UCSC: uc010xwf.2
No. of Studies	3 (Positive: 2; Negative: 1; trend: 0)
Overlap with SZ?	NO
Overlap with MDD?	YES

Gene related studies (count: 3)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Philibert, R. A.,2001		Overall, the results do not support linkage of bipolar disorder to the Na(+), K(+)-ATPase alpha subunit gene (ATP1A3) and beta subunit gene (ATP1B3) in these old-order Amish families.	Negative	Comment on Study
Mynett-Johnson, L., 1998	Other variant: ATP1A3 2-7 allele	The results presented here provide preliminary evidence of an association between bipolar disorder and an alpha subunit of Na+, K+ ATPase, the expression of which predominates in the brain.	Positive	Comment on Study
Goldstein, I.,2009	SNP: rs919390	In summary, this study demonstrates for the first time that genetic variations in tagging SNPs in the three genes of isoforms of Na<sup>+</sup , K<sup>+</sup> -ATPase are associated with BD and suggest the role of this enzyme in the etiology of BD.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 33)

GO terms by PBA (count: 5)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0045202	synapse	cellular component	ISS	29
GO:0016021	integral component of membrane	cellular component	NAS[15260953]	219
GO:0005634	nucleus	cellular component	IEA	283
GO:0043209	myelin sheath	cellular component	IEA	2
GO:0005886	plasma membrane	cellular component	IDA[15260953]; TAS	360

GO terms by database search (count: 28)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0046872	metal ion binding	molecular function	IEA	115
GO:0010107	potassium ion import	biological process	IDA[10636900]	5
GO:0030424	axon	cellular component	IEA	39
GO:0008344	adult locomotory behavior	biological process	IEA	15
GO:0007613	memory	biological process	IEA	22
GO:0005890	sodium:potassium-exchanging ATPase complex	cellular component	IC[15260953]; IDA[10636900]	4
GO:0006883	cellular sodium ion homeostasis	biological process	IDA[10636900]	5
GO:0051087	chaperone binding	molecular function	IPI[10636900]	10
GO:0008152	metabolic process	biological process	IEA	50
GO:0034220	ion transmembrane transport	biological process	TAS	50
GO:1903416	response to glycoside	biological process	NAS[11546672]	3
GO:0044327	dendritic spine head	cellular component	IEA	1
GO:0005783	endoplasmic reticulum	cellular component	IDA[15260953]	49
GO:0031748	D1 dopamine receptor binding	molecular function	IEA	5
GO:0005524	ATP binding	molecular function	NAS[15260953]	118
GO:0071383	cellular response to steroid hormone stimulus	biological process	NAS[11546672]	6
GO:0005794	Golgi apparatus	cellular component	IDA[15260953]	60
GO:0005391	sodium:potassium-exchanging ATPase activity	molecular function	IDA[10636900]; IMP[15260953]	4
GO:0044326	dendritic spine neck	cellular component	IEA	1
GO:0042493	response to drug	biological process	IEA	57
GO:0031982	vesicle	cellular component	IDA[24769233]	20
GO:0055085	transmembrane transport	biological process	TAS	77
GO:1990239	steroid hormone binding	molecular function	NAS[11546672]	4
GO:0036376	sodium ion export from cell	biological process	IDA[10636900]	4
GO:0008542	visual learning	biological process	IEA	17
GO:0086064	cell communication by electrical coupling involved in cardiac conduction	biological process	TAS[19683723]	7
GO:0030007	cellular potassium ion homeostasis	biological process	IDA[10636900]	4
GO:0035235	ionotropic glutamate receptor signaling pathway	biological process	IEA	13

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 0)

Related other genetic factors

Gene related SNPs (count: 1)

Literature-origin SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs919390	chr19:41966898 - 41966898(1)	3_prime_UTR_variant; missense_variant	1(1/0/0)

LD-proxies (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 1)

Variant Name	Variant Type	Location in Gene	No. of Studies (Positive/Negative/Trend)
ATP1A3 2-7 allele	others		1 (1/0/0)

Gene related regions (count: 3)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
19p13-q13	chr19:0-58617616	1 (0/1/0)
Chr 19	chr19:0-58617616	2 (0/2/0)
19q13	chr19:31900000-58617616	2 (0/2/0)

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

Gene relationship with SZ

Gene relationship with MDD

Overlap with MDD from cross-disorder studies (count: 0)

Overlap with MDD from candidate gene intersection analysis (count: 1)

Reference	Description	Category in MDD	Link in MK4MDD
18068248	Genes differentially expressed in major depression	Pos	ATP1A3

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Region: chr19:41966582..41997497 View in gBrowse