Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

ADD to My Gene Set

Comment on Gene

View All Comments on Gene

Basic Info

Approved Symbol	ATP1A2
Previous Symbol	MHP2
Symbol Alias	FHM2
Approved Name	ATPase, Na+/K+ transporting, alpha 2 polypeptide
Previous Name	migraine, hemiplegic 2, "ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"
Name Alias	sodium/potassium-transporting ATPase subunit alpha-2, "sodium pump subunit alpha-2", "sodium-potassium ATPase catalytic subunit alpha-2"
Location	1q23.2
Position	chr1:160115759-160143591, 1
External Links	HGNC: 800 Entrez Gene: 477 Ensembl: ENSG00000018625 UCSC: uc001fvc.3
No. of Studies	1 (Positive: 1; Negative: 0; trend: 0)
Overlap with SZ?	NO
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Goldstein, I.,2009	SNP: rs2070704, rs2295623 Haplotype: rs2070704 - rs2295623()	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: 49)

GO terms by PBA (count: 3)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005886	plasma membrane	cellular component	IDA[12539047]; TAS	360
GO:0006813	potassium ion transport	biological process	NAS[10642400]	6
GO:0045202	synapse	cellular component	IEA	29

GO terms by database search (count: 46)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0031982	vesicle	cellular component	IDA[24769233]	20
GO:0060048	cardiac muscle contraction	biological process	TAS[23224879]	5
GO:0006883	cellular sodium ion homeostasis	biological process	IDA[10636900]	5
GO:0055119	relaxation of cardiac muscle	biological process	TAS[23224879]	4
GO:0010881	regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	biological process	TAS[23608603]	4
GO:0008152	metabolic process	biological process	IEA	50
GO:0071260	cellular response to mechanical stimulus	biological process	IEA	12
GO:0008542	visual learning	biological process	IEA	17
GO:0015991	ATP hydrolysis coupled proton transport	biological process	IEA	4
GO:0034220	ion transmembrane transport	biological process	TAS	50
GO:0005737	cytoplasm	cellular component	IDA[12539047]	322
GO:0036376	sodium ion export from cell	biological process	IDA[10636900]	4
GO:0046872	metal ion binding	molecular function	IEA	115
GO:0040011	locomotion	biological process	IEA	2
GO:0030007	cellular potassium ion homeostasis	biological process	IDA[10636900]	4
GO:0071383	cellular response to steroid hormone stimulus	biological process	IDA[14742675]	6
GO:0019229	regulation of vasoconstriction	biological process	IEA	10
GO:0002087	regulation of respiratory gaseous exchange by neurological system process	biological process	IEA	2
GO:1990239	steroid hormone binding	molecular function	IDA[14742675]	4
GO:0030315	T-tubule	cellular component	IEA	8
GO:0005901	caveola	cellular component	IEA	11
GO:0035094	response to nicotine	biological process	IEA	10
GO:1903416	response to glycoside	biological process	IC[14742675]; ISS	3
GO:1903280	negative regulation of calcium:sodium antiporter activity	biological process	ISS	1
GO:0045988	negative regulation of striated muscle contraction	biological process	IEA	1
GO:0006940	regulation of smooth muscle contraction	biological process	IEA	5
GO:0051087	chaperone binding	molecular function	IPI[10636900]	10
GO:0005768	endosome	cellular component	IEA	27
GO:0043197	dendritic spine	cellular component	IEA	21
GO:0086064	cell communication by electrical coupling involved in cardiac conduction	biological process	TAS[19683723]	7
GO:0005890	sodium:potassium-exchanging ATPase complex	cellular component	IC[12539047]; IDA[10636900]	4
GO:0008217	regulation of blood pressure	biological process	IEA	12
GO:0010107	potassium ion import	biological process	IDA[10636900]	5
GO:0051481	negative regulation of cytosolic calcium ion concentration	biological process	IEA	2
GO:0005524	ATP binding	molecular function	IEA	118
GO:0002026	regulation of the force of heart contraction	biological process	IEA	5
GO:0006942	regulation of striated muscle contraction	biological process	NAS[10642400]	1
GO:0086012	membrane depolarization during cardiac muscle cell action potential	biological process	TAS[23608603]	2
GO:0086004	regulation of cardiac muscle cell contraction	biological process	IEA	5
GO:1903170	negative regulation of calcium ion transmembrane transport	biological process	ISS	1
GO:0008344	adult locomotory behavior	biological process	IEA	15
GO:0001504	neurotransmitter uptake	biological process	IEA	2
GO:0045822	negative regulation of heart contraction	biological process	IEA	4
GO:0055085	transmembrane transport	biological process	TAS	77
GO:0005391	sodium:potassium-exchanging ATPase activity	molecular function	IDA[10636900]; IMP[12539047]	4
GO:0006814	sodium ion transport	biological process	NAS[10642400]	6

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 1)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
ATP1A2	TPT1	NO	in vitro;in vivo;yeast 2-hybrid	15383549

Related other genetic factors

Gene related SNPs (count: 4)

Literature-origin SNPs (count: 4)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs1016732	chr1:160117178 - 160117178(1)	intron_variant; non_coding_transcript_variant	1(1/0/0)
rs2070704	chr1:160142348 - 160142348(1)	3_prime_UTR_variant; downstream_gene_variant	1(1/0/0)
rs2295623	chr1:160127525 - 160127525(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant	1(1/0/0)
rs2854248	chr1:160124137 - 160124137(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant	1(1/0/0)

LD-proxies (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 3)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
1q23	chr1:156600000-165500000	1 (0/1/0)
1p32.1-q31.1	chr1:58500000-190800000	1 (0/1/0)
Chr 1	chr1:0-248956422	2 (0/2/0)

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

Gene relationship with SZ

Gene relationship with MDD

View in gBrowse

Region: chr1:160115759..160143591 View in gBrowse