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	ATP6V0D1
Previous Symbol	ATP6D
Symbol Alias	ATP6DV, VATX, VPATPD, P39, Vma6
Approved Name	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1
Previous Name	ATPase, H+ transporting, lysosomal (vacuolar proton pump), member D, "ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d isoform 1", "ATPase, H+ transporting, lysosomal 38kDa, V0 subunit D1"
Location	16q22
Position	chr16:67438014-67481237, -1
External Links	HGNC: 13724 Entrez Gene: 9114 Ensembl: ENSG00000159720 UCSC: uc002ete.1
No. of Studies	1 (Positive: 1; Negative: 0; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Moskvina, V.,2009		In BP:Smallest P-value per gene=0.00061, Product of P truncation <=0.01=0.00067, Product of P truncation <=0.001=0.00061. It showed evidence for association with BD.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 28)

GO terms by PBA (count: 2)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0016020	membrane	cellular component	IDA[18752060]	137
GO:0007420	brain development	biological process	IEA	25

GO terms by database search (count: 26)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0030968	endoplasmic reticulum unfolded protein response	biological process	TAS	10
GO:0051701	interaction with host	biological process	TAS	6
GO:0016471	vacuolar proton-transporting V-type ATPase complex	cellular component	IDA[18752060]; NAS[11118322]	3
GO:0015992	proton transport	biological process	NAS[11118322]	4
GO:0042384	cilium assembly	biological process	ISS	7
GO:0070062	extracellular vesicular exosome	cellular component	IDA[19056867]	176
GO:0005515	protein binding	molecular function	IPI[18752060]	563
GO:0055085	transmembrane transport	biological process	TAS	77
GO:0030670	phagocytic vesicle membrane	cellular component	TAS	6
GO:0015991	ATP hydrolysis coupled proton transport	biological process	IEA	4
GO:0005769	early endosome	cellular component	IEA	13
GO:0005765	lysosomal membrane	cellular component	IDA[17897319]	14
GO:0008553	hydrogen-exporting ATPase activity, phosphorylative mechanism	molecular function	IEA	2
GO:0008021	synaptic vesicle	cellular component	IEA	13
GO:0033572	transferrin transport	biological process	TAS	7
GO:0090382	phagosome maturation	biological process	TAS	6
GO:0044267	cellular protein metabolic process	biological process	TAS	28
GO:0005813	centrosome	cellular component	IDA[21844891]	34
GO:0032403	protein complex binding	molecular function	IEA	16
GO:0016324	apical plasma membrane	cellular component	IEA	24
GO:0006987	activation of signaling protein activity involved in unfolded protein response	biological process	TAS	8
GO:0006879	cellular iron ion homeostasis	biological process	TAS	7
GO:0008286	insulin receptor signaling pathway	biological process	TAS	15
GO:0033179	proton-transporting V-type ATPase, V0 domain	cellular component	IEA	1
GO:0043679	axon terminus	cellular component	IEA	8
GO:0010008	endosome membrane	cellular component	TAS	17

Gene related KEGG pathways (count: 3)

KEGG pathways by PBA (count: 0)

KEGG pathways by database search (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: 0)

Related other genetic factors

Gene related SNPs (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)
Chr 16	chr16:0-90338345	5 (1/3/1)
16q22	chr16:66600000-74100000	1 (0/1/0)
16q12.2-23.1	chr16:52600000-79200000	1 (0/0/1)

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

Gene relationship with SZ

Overlap with SZ from cross-disorder studies (count: 1)

Reference	Description	Result Category
19065143	It showed no evidence for association with SZ.	Negative

Overlap with SZ from candidate gene intersection analysis (count: 0)

Gene relationship with MDD

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Region: chr16:67438014..67481237 View in gBrowse