Gene Report

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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)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0016021	integral component of membrane	cellular component	IEA	219
GO:0005886	plasma membrane	cellular component	IDA	360

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005925	focal adhesion	cellular component	IDA	32
GO:0015991	ATP hydrolysis coupled proton transport	biological process	IEA	4
GO:0016471	vacuolar proton-transporting V-type ATPase complex	cellular component	IBA	3
GO:0006879	cellular iron ion homeostasis	biological process	TAS	7
GO:0055085	transmembrane transport	biological process	TAS	77
GO:0000220	vacuolar proton-transporting V-type ATPase, V0 domain	cellular component	IEA	1
GO:0015986	ATP synthesis coupled proton transport	biological process	IBA	1
GO:0010008	endosome membrane	cellular component	TAS	17
GO:0090382	phagosome maturation	biological process	TAS	6
GO:0007035	vacuolar acidification	biological process	IBA	2
GO:0005765	lysosomal membrane	cellular component	IDA[17897319]	14
GO:0005515	protein binding	molecular function	IPI[16415858]	563
GO:0033572	transferrin transport	biological process	TAS	7
GO:0051117	ATPase binding	molecular function	IBA	6
GO:0001669	acrosomal vesicle	cellular component	IEA	3
GO:0008286	insulin receptor signaling pathway	biological process	TAS	15
GO:0051701	interaction with host	biological process	TAS	6
GO:0030670	phagocytic vesicle membrane	cellular component	TAS	6
GO:0005737	cytoplasm	cellular component	IDA	322
GO:0046961	proton-transporting ATPase activity, rotational mechanism	molecular function	IBA	2
GO:0070072	vacuolar proton-transporting V-type ATPase complex assembly	biological process	IBA	1
GO:0006955	immune response	biological process	TAS[2247090]	19

Gene related KEGG pathways (count: 3)

ID	Name	No. of Genes in BDgene
hsa00190	Oxidative phosphorylation	7
hsa05120	Epithelial cell signaling in Helicobacter pylori infection	11
hsa05110	Vibrio cholerae infection	9

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
ATP6V0A2	CYTH2	NO	in vitro;in vivo;yeast 2-hybrid	16415858

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)
ATP6V0A2_TJ6_GC24E19A	point mutation		1 (0/1/0)

Gene related regions (count: 6)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
12q24.3	chr12:120300000-133275309	1 (1/0/0)
Chr 12	chr12:0-133275309	3 (0/3/0)
12q24	chr12:108600000-133275309	4 (1/1/2)
12q23-q24	chr12:95800000-133275309	3 (2/0/1)
12q24.31	chr12:120300000-125400000	1 (1/0/0)
12q	chr12:38200000-133851895	1 (1/0/0)

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