Gene Report

Basic Info
Approved Symbol ATP6V0A2
Symbol Alias TJ6, a2, TJ6s, TJ6M, ATP6a2, J6B7, ATP6N1D, Vph1, Stv1
Approved Name ATPase, H+ transporting, lysosomal V0 subunit a2
Previous Name infantile malignant osteopetrosis, "ATPase, H+ transporting, lysosomal V0 subunit a isoform 2", "ATPase, H+ transporting, lysosomal V0 subunit A2"
Name Alias infantile malignant osteopetrosis
Location 12q24.31
Position chr12:123712318-123761755, 1
External Links HGNC: 18481
Entrez Gene: 23545
Ensembl: ENSG00000185344
UCSC: uc001ufr.3
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
Shink, E.,2005(a) Other variant: ATP6V0A2_TJ6_GC24E19A We found no polymorphisms associated with bipolar disorder in this gene. Negative Comment on Study
Gene functional annotation
Gene related GO terms (count: 24)

GO terms by PBA (count: 2)

GO terms by database search (count: 22)

Gene related KEGG pathways (count: 3)

KEGG pathways by PBA (count: 0)

KEGG pathways by database search (count: 3)

Gene related BioCarta pathways (count: 0)

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

Related other genetic factors
Gene related SNPs (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 1)

Gene related regions (count: 6)

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

Gene relationship with MDD

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Region: chr12:123712318..123761755 View in gBrowse
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