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	ATP1B3
Symbol Alias	FLJ29027, CD298
Approved Name	ATPase, Na+/K+ transporting, beta 3 polypeptide
Name Alias	sodium/potassium-transporting ATPase subunit beta-3, "sodium pump subunit beta-3", "sodium-potassium ATPase subunit beta 3 (non-catalytic)"
Location	3q23
Position	chr3:141876124-141926514, 1
External Links	HGNC: 806 Entrez Gene: 483 Ensembl: ENSG00000069849 UCSC: uc003eug.1
No. of Studies	1 (Positive: 0; Negative: 1; 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
Philibert, R. A.,2001	Other variant: ATP1B3_4E12	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

Gene functional annotation

Gene related GO terms (count: 24)

GO terms by PBA (count: 1)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005886	plasma membrane	cellular component	IDA[18522992]; TAS	360

GO terms by database search (count: 23)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0034220	ion transmembrane transport	biological process	TAS	50
GO:1903288	positive regulation of potassium ion import	biological process	IDA[10636900]	1
GO:1901018	positive regulation of potassium ion transmembrane transporter activity	biological process	IDA[10636900]	2
GO:0036376	sodium ion export from cell	biological process	IDA[10636900]	4
GO:1903278	positive regulation of sodium ion export from cell	biological process	IDA[10636900]	1
GO:0005901	caveola	cellular component	IEA	11
GO:0006883	cellular sodium ion homeostasis	biological process	IDA[10636900]	5
GO:0051117	ATPase binding	molecular function	IPI[10636900]	6
GO:0030007	cellular potassium ion homeostasis	biological process	IDA[10636900]	4
GO:0032781	positive regulation of ATPase activity	biological process	IDA[10636900]	2
GO:0050821	protein stabilization	biological process	IDA[10636900]	12
GO:0005391	sodium:potassium-exchanging ATPase activity	molecular function	IDA[19542013]; IDA[10636900]	4
GO:0010107	potassium ion import	biological process	IDA[10636900]	5
GO:0007596	blood coagulation	biological process	TAS	44
GO:0072659	protein localization to plasma membrane	biological process	IDA[18522992]	9
GO:0042470	melanosome	cellular component	IEA	15
GO:0001671	ATPase activator activity	molecular function	IDA[10636900]	2
GO:0070062	extracellular vesicular exosome	cellular component	IDA[20458337]	176
GO:0055085	transmembrane transport	biological process	TAS	77
GO:0050900	leukocyte migration	biological process	TAS	9
GO:0006810	transport	biological process	TAS[8798450]	47
GO:0086009	membrane repolarization	biological process	IDA[19542013]	2
GO:0005890	sodium:potassium-exchanging ATPase complex	cellular component	IDA[10636900]	4

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: 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)
ATP1B3_4E12	microsatellite		1 (0/1/0)

Gene related regions (count: 2)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 3	chr3:0-198295559	2 (0/2/0)
3q22.1-q25.31	chr3:129500000-157300000	1 (0/1/0)

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

Gene relationship with SZ

Gene relationship with MDD

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Region: chr3:141876124..141926514 View in gBrowse