Gene Report

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)

GO terms by database search (count: 28)

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)

LD-proxies (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 1)

Gene related regions (count: 3)

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)

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Region: chr19:41966582..41997497 View in gBrowse
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