TISIDB

Summary
Symbol	ATP6V0A2
Name	ATPase, H+ transporting, lysosomal V0 subunit a2
Aliases	TJ6; TJ6s; TJ6M; ATP6a2; J6B7; ATP6N1D; infantile malignant osteopetrosis; ATPase, H+ transporting, lysosoma ......
Chromosomal Location	12q24.31
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Basic function annotation. > Subcellular Location, Domain and Function > Gene Ontology > KEGG and Reactome Pathway

> Subcellular Location, Domain and Function [ TOP ]
Subcellular Location	Cell membrane; Multi-pass membrane protein. Endosome membrane. Note=In kidney proximal tubules, also detected in subapical vesicles.
Domain	PF01496 V-type ATPase 116kDa subunit family
Function	Part of the proton channel of V-ATPases. Essential component of the endosomal pH-sensing machinery. May play a role in maintaining the Golgi functions, such as glycosylation maturation, by controlling the Golgi pH. In aerobic conditions, involved in intracellular iron homeostasis, thus triggering the activity of Fe(2+) prolyl hydroxylase (PHD) enzymes, and leading to HIF1A hydroxylation and subsequent proteasomal degradation (PubMed:28296633).

> Gene Ontology [ TOP ]
Biological Process	GO:0000041 transition metal ion transport GO:0006164 purine nucleotide biosynthetic process GO:0006754 ATP biosynthetic process GO:0006818 hydrogen transport GO:0006826 iron ion transport GO:0006885 regulation of pH GO:0006914 autophagy GO:0007035 vacuolar acidification GO:0008286 insulin receptor signaling pathway GO:0009116 nucleoside metabolic process GO:0009119 ribonucleoside metabolic process GO:0009123 nucleoside monophosphate metabolic process GO:0009124 nucleoside monophosphate biosynthetic process GO:0009126 purine nucleoside monophosphate metabolic process GO:0009127 purine nucleoside monophosphate biosynthetic process GO:0009141 nucleoside triphosphate metabolic process GO:0009142 nucleoside triphosphate biosynthetic process GO:0009144 purine nucleoside triphosphate metabolic process GO:0009145 purine nucleoside triphosphate biosynthetic process GO:0009150 purine ribonucleotide metabolic process GO:0009152 purine ribonucleotide biosynthetic process GO:0009156 ribonucleoside monophosphate biosynthetic process GO:0009161 ribonucleoside monophosphate metabolic process GO:0009163 nucleoside biosynthetic process GO:0009165 nucleotide biosynthetic process GO:0009167 purine ribonucleoside monophosphate metabolic process GO:0009168 purine ribonucleoside monophosphate biosynthetic process GO:0009199 ribonucleoside triphosphate metabolic process GO:0009201 ribonucleoside triphosphate biosynthetic process GO:0009205 purine ribonucleoside triphosphate metabolic process GO:0009206 purine ribonucleoside triphosphate biosynthetic process GO:0009260 ribonucleotide biosynthetic process GO:0010506 regulation of autophagy GO:0015672 monovalent inorganic cation transport GO:0015682 ferric iron transport GO:0015985 energy coupled proton transport, down electrochemical gradient GO:0015986 ATP synthesis coupled proton transport GO:0015988 energy coupled proton transmembrane transport, against electrochemical gradient GO:0015991 ATP hydrolysis coupled proton transport GO:0015992 proton transport GO:0016236 macroautophagy GO:0016241 regulation of macroautophagy GO:0030004 cellular monovalent inorganic cation homeostasis GO:0030641 regulation of cellular pH GO:0032868 response to insulin GO:0032869 cellular response to insulin stimulus GO:0033572 transferrin transport GO:0042278 purine nucleoside metabolic process GO:0042451 purine nucleoside biosynthetic process GO:0042455 ribonucleoside biosynthetic process GO:0043434 response to peptide hormone GO:0045851 pH reduction GO:0046034 ATP metabolic process GO:0046128 purine ribonucleoside metabolic process GO:0046129 purine ribonucleoside biosynthetic process GO:0046390 ribose phosphate biosynthetic process GO:0051452 intracellular pH reduction GO:0051453 regulation of intracellular pH GO:0055067 monovalent inorganic cation homeostasis GO:0070070 proton-transporting V-type ATPase complex assembly GO:0070071 proton-transporting two-sector ATPase complex assembly GO:0070072 vacuolar proton-transporting V-type ATPase complex assembly GO:0071375 cellular response to peptide hormone stimulus GO:0071417 cellular response to organonitrogen compound GO:0072512 trivalent inorganic cation transport GO:0072522 purine-containing compound biosynthetic process GO:0090382 phagosome maturation GO:0090383 phagosome acidification GO:0090662 ATP hydrolysis coupled transmembrane transport GO:1901293 nucleoside phosphate biosynthetic process GO:1901652 response to peptide GO:1901653 cellular response to peptide GO:1901657 glycosyl compound metabolic process GO:1901659 glycosyl compound biosynthetic process GO:1902600 hydrogen ion transmembrane transport
Molecular Function	GO:0015077 monovalent inorganic cation transmembrane transporter activity GO:0015078 hydrogen ion transmembrane transporter activity GO:0015399 primary active transmembrane transporter activity GO:0015405 P-P-bond-hydrolysis-driven transmembrane transporter activity GO:0016820 hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances GO:0016887 ATPase activity GO:0019829 cation-transporting ATPase activity GO:0022804 active transmembrane transporter activity GO:0022853 active ion transmembrane transporter activity GO:0036442 hydrogen-exporting ATPase activity GO:0042623 ATPase activity, coupled GO:0042625 ATPase coupled ion transmembrane transporter activity GO:0042626 ATPase activity, coupled to transmembrane movement of substances GO:0043492 ATPase activity, coupled to movement of substances GO:0044769 ATPase activity, coupled to transmembrane movement of ions, rotational mechanism GO:0046961 proton-transporting ATPase activity, rotational mechanism GO:0051117 ATPase binding
Cellular Component	GO:0000220 vacuolar proton-transporting V-type ATPase, V0 domain GO:0001669 acrosomal vesicle GO:0005765 lysosomal membrane GO:0005924 cell-substrate adherens junction GO:0005925 focal adhesion GO:0010008 endosome membrane GO:0016469 proton-transporting two-sector ATPase complex GO:0016471 vacuolar proton-transporting V-type ATPase complex GO:0030055 cell-substrate junction GO:0030139 endocytic vesicle GO:0030141 secretory granule GO:0030659 cytoplasmic vesicle membrane GO:0030666 endocytic vesicle membrane GO:0030670 phagocytic vesicle membrane GO:0033176 proton-transporting V-type ATPase complex GO:0033177 proton-transporting two-sector ATPase complex, proton-transporting domain GO:0033179 proton-transporting V-type ATPase, V0 domain GO:0044440 endosomal part GO:0045335 phagocytic vesicle GO:0097223 sperm part GO:0098852 lytic vacuole membrane GO:0099503 secretory vesicle

> KEGG and Reactome Pathway [ TOP ]
KEGG	hsa04142 Lysosome hsa04145 Phagosome hsa04721 Synaptic vesicle cycle hsa04966 Collecting duct acid secretion hsa00190 Oxidative phosphorylation hsa01100 Metabolic pathways
Reactome	R-HSA-168256: Immune System R-HSA-168249: Innate Immune System R-HSA-77387: Insulin receptor recycling R-HSA-983712: Ion channel transport R-HSA-917937: Iron uptake and transport R-HSA-1222556: ROS, RNS production in phagocytes R-HSA-162582: Signal Transduction R-HSA-74752: Signaling by Insulin receptor R-HSA-917977: Transferrin endocytosis and recycling R-HSA-382551: Transmembrane transport of small molecules

> KEGG and Reactome Pathway

[ TOP ]

KEGG

hsa04142 Lysosome
hsa04145 Phagosome
hsa04721 Synaptic vesicle cycle
hsa04966 Collecting duct acid secretion
hsa00190 Oxidative phosphorylation
hsa01100 Metabolic pathways

Reactome

R-HSA-168256: Immune System
R-HSA-168249: Innate Immune System
R-HSA-77387: Insulin receptor recycling
R-HSA-983712: Ion channel transport
R-HSA-917937: Iron uptake and transport
R-HSA-1222556: ROS, RNS production in phagocytes
R-HSA-162582: Signal Transduction
R-HSA-74752: Signaling by Insulin receptor
R-HSA-917977: Transferrin endocytosis and recycling
R-HSA-382551: Transmembrane transport of small molecules

Summary
Symbol	ATP6V0A2
Name	ATPase, H+ transporting, lysosomal V0 subunit a2
Aliases	TJ6; TJ6s; TJ6M; ATP6a2; J6B7; ATP6N1D; infantile malignant osteopetrosis; ATPase, H+ transporting, lysosoma ......
Chromosomal Location	12q24.31
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Literatures that report relations between ATP6V0A2 and anti-tumor immunity. The specific mechanism were also collected if the literature reports that a gene specifically promotes or inhibits the infiltration or function of T/NK cells.

> Text Mining

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Literatures describing the relation between ATP6V0A2 and anti-tumor immunity in human cancer.

PMID	Cancer type	Relation to immunity	Evidence sentences
16585213	Glioma	Inhibit immunity (T cell function)	Suppression of RTF expression by RNA interference promotes the lysis of glioma cells by natural killer (NK) and T cells in vitro.

Summary
Symbol	ATP6V0A2
Name	ATPase, H+ transporting, lysosomal V0 subunit a2
Aliases	TJ6; TJ6s; TJ6M; ATP6a2; J6B7; ATP6N1D; infantile malignant osteopetrosis; ATPase, H+ transporting, lysosoma ......
Chromosomal Location	12q24.31
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	High-throughput screening data (e.g. CRISPR-Cas9, shRNA and RNAi) for T cell-mediated killing. Genetic screen techniques can identify mechanisms of tumor cell resistance (e.g., PTPN2) and sensitivity (e.g., APLNR) to killing by cytotoxic T cells, the central effectors of anti-tumor immunity. After comprehensively searching, eight groups of screening data sets were collected in the current database. In this tab, users can check whether their selected genes cause resistance or increase sensitivity to T cell-mediated killing in various data sets.

> High-throughput Screening

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Statistical results of ATP6V0A2 in screening data sets for detecting immune reponses.

PMID	Screening System	Cancer Type	Cell Line	Data Set	Statistical Results	Relation to immunity
29301958	CRISPR-Cas9	melanoma	B16F10	Pmel-1 T cell	NA/NS	NA/NS
29301958	CRISPR-Cas9	melanoma	B16F10	OT-1 T cell	NA/NS	NA/NS
28783722	CRISPR-Cas9	melanoma	Mel624	2CT-CRISPR	NA/NS	NA/NS
28723893	CRISPR-Cas9	melanoma	B16	GVAX+Anti-PD1	NA/NS	NA/NS
28723893	CRISPR-Cas9	melanoma	B16	GVAX	NA/NS	NA/NS
25691366	RNAi	Breast cancer	MCF7	Luc-CTL assay	NA/NS	NA/NS
24476824	shRNA	melanoma	B16	Primary screen	NA/NS	NA/NS
24476824	shRNA	melanoma	B16	Secondary screen	NA/NS	NA/NS

Summary
Symbol	ATP6V0A2
Name	ATPase, H+ transporting, lysosomal V0 subunit a2
Aliases	TJ6; TJ6s; TJ6M; ATP6a2; J6B7; ATP6N1D; infantile malignant osteopetrosis; ATPase, H+ transporting, lysosoma ......
Chromosomal Location	12q24.31
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Transcriptomic and genomic profiling of pre-treated tumor biopsies from responders and non-responders to immunotherapy. These data were used to identify signatures and mechanisms of response to checkpoint blockade (e.g., anti-PDL1 and anti-PD1). One example is that mutations in the gene PBRM1 benefit clinical survival of patients with clear cell renal cell carcinoma. After comprehensively searching, we collected 5 and 6 of transcriptomic and genomic data sets, respectively. In this tab, users can check whether their selected genes have significant difference of expression or mutation between responders and non-responders in various data sets. > Expression difference between responders and non-responders > Mutation difference between responders and non-responders

> Expression difference between responders and non-responders

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Points in the above scatter plot represent the expression difference of ATP6V0A2 in various data sets.

No	PMID	Cancer type	Group	Drug	# Res	# NRes	Log2 (Fold Change)	P value
1	26997480	Melanoma	all	Anti-PD-1 (pembrolizumab and nivolumab)	14	12	-0.244	0.275
2	26997480	Melanoma	MAPKi	Anti-PD-1 (pembrolizumab and nivolumab)	6	5	-0.116	0.924
3	26997480	Melanoma	non-MAPKi	Anti-PD-1 (pembrolizumab and nivolumab)	8	7	-0.335	0.7
4	28552987	Urothelial cancer	all	Anti-PD-L1 (atezolizumab)	9	16	-0.289	0.213
5	28552987	Urothelial cancer	smoking	Anti-PD-L1 (atezolizumab)	5	9	-0.453	0.8
6	28552987	Urothelial cancer	non-smoking	Anti-PD-L1 (atezolizumab)	4	7	-0.08	0.972
7	29033130	Melanoma	all	Anti-PD-1 (nivolumab)	26	23	0.167	0.605
8	29033130	Melanoma	NIV3-PROG	Anti-PD-1 (nivolumab)	15	11	0.082	0.956
9	29033130	Melanoma	NIV3-NAIVE	Anti-PD-1 (nivolumab)	11	12	0.29	0.858
10	29301960	Clear cell renal cell carcinoma (ccRCC)	all	Anti-PD-1 (nivolumab)	4	8	0.806	0.294
11	29301960	Clear cell renal cell carcinoma (ccRCC)	VEGFRi	Anti-PD-1 (nivolumab)	2	0	0	1
12	29301960	Clear cell renal cell carcinoma (ccRCC)	non-VEGFRi	Anti-PD-1 (nivolumab)	2	8	1.315	0.241
13	29443960	Urothelial cancer	all	Anti-PD-L1 (atezolizumab)	68	230	0.05	0.363

> Mutation difference between responders and non-responders

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Points in the above scatter plot represent the mutation difference of ATP6V0A2 in various data sets.

No	PMID	Cancer type	Group	Drug	# Res	# NRes	% Mut/Res	% Mut/NRes	% Diff (R vs NR)	Pval
1	25765070	Non-small cell lung cancer (NSCLC)	all	Anti-PD-1 (pembrolizumab)	14	17	7.1	0	7.1	0.452
2	25765070	Non-small cell lung cancer (NSCLC)	smoking	Anti-PD-1 (pembrolizumab)	10	3	10	0	10	1
3	25765070	Non-small cell lung cancer (NSCLC)	non-smoking	Anti-PD-1 (pembrolizumab)	4	14	0	0	0	1
4	26359337	Melanoma	all	Anti-CTLA-4 (ipilimumab)	27	73	7.4	1.4	6	0.177
5	26359337	Melanoma	BRAFi	Anti-CTLA-4 (ipilimumab)	0	14	0	0	0	1
6	26359337	Melanoma	non-BRAFi	Anti-CTLA-4 (ipilimumab)	27	59	7.4	1.7	5.7	0.231
7	26997480	Melanoma	all	Anti-PD-1 (pembrolizumab and nivolumab)	21	17	4.8	0	4.8	1
8	26997480	Melanoma	MAPKi	Anti-PD-1 (pembrolizumab and nivolumab)	8	6	12.5	0	12.5	1
9	26997480	Melanoma	non-MAPKi	Anti-PD-1 (pembrolizumab and nivolumab)	13	11	0	0	0	1
10	28552987	Urothelial cancer	all	Anti-PD-L1 (atezolizumab)	9	16	0	6.2	-6.2	1
11	28552987	Urothelial cancer	smoking	Anti-PD-L1 (atezolizumab)	5	9	0	11.1	-11.1	1
12	28552987	Urothelial cancer	non-smoking	Anti-PD-L1 (atezolizumab)	4	7	0	0	0	1
13	29033130	Melanoma	all	Anti-PD-1 (nivolumab)	38	27	5.3	0	5.3	0.507
14	29033130	Melanoma	NIV3-PROG	Anti-PD-1 (nivolumab)	22	13	0	0	0	1
15	29033130	Melanoma	NIV3-NAIVE	Anti-PD-1 (nivolumab)	16	14	12.5	0	12.5	0.485
16	29301960	Clear cell renal cell carcinoma (ccRCC)	all	Anti-PD-1 (nivolumab)	11	13	0	0	0	1
17	29301960	Clear cell renal cell carcinoma (ccRCC)	VEGFRi	Anti-PD-1 (nivolumab)	6	1	0	0	0	1
18	29301960	Clear cell renal cell carcinoma (ccRCC)	non-VEGFRi	Anti-PD-1 (nivolumab)	5	12	0	0	0	1

Summary
Symbol	ATP6V0A2
Name	ATPase, H+ transporting, lysosomal V0 subunit a2
Aliases	TJ6; TJ6s; TJ6M; ATP6a2; J6B7; ATP6N1D; infantile malignant osteopetrosis; ATPase, H+ transporting, lysosoma ......
Chromosomal Location	12q24.31
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Relations between abundance of tumor-infiltrating lymphocytes (TILs) and expression, copy number, methylation, or mutation of ATP6V0A2. The immune-related signatures of 28 TIL types from Charoentong's study, which can be viewed in the download page. For each cancer type, the relative abundance of TILs were inferred by using gene set variation analysis (GSVA) based on gene expression profile. In this tab, users can examine which kinds of TILs might be regulated by the current gene.

> Lymphocyte [ TOP ]

Summary
Symbol	ATP6V0A2
Name	ATPase, H+ transporting, lysosomal V0 subunit a2
Aliases	TJ6; TJ6s; TJ6M; ATP6a2; J6B7; ATP6N1D; infantile malignant osteopetrosis; ATPase, H+ transporting, lysosoma ......
Chromosomal Location	12q24.31
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Relations between three kinds of immunomodulators and expression, copy number, methylation, or mutation of ATP6V0A2. These immunomo-dulators were collected from Charoentong's study. In this tab, users can examine which immunomodulators might be regulated by ATP6V0A2. > Immunoinhibitor > Immunostimulator > MHC molecule

> Immunoinhibitor [ TOP ]

> Immunostimulator [ TOP ]

> MHC molecule [ TOP ]

Summary
Symbol	ATP6V0A2
Name	ATPase, H+ transporting, lysosomal V0 subunit a2
Aliases	TJ6; TJ6s; TJ6M; ATP6a2; J6B7; ATP6N1D; infantile malignant osteopetrosis; ATPase, H+ transporting, lysosoma ......
Chromosomal Location	12q24.31
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Relations between chemokines (or receptors) and expression, copy number, methylation, or mutation of ATP6V0A2. In this tab, users can examine which chemokines (or receptors) might be regulated by the current gene. > Chemokine > Receptor

> Chemokine [ TOP ]

> Receptor [ TOP ]

Summary
Symbol	ATP6V0A2
Name	ATPase, H+ transporting, lysosomal V0 subunit a2
Aliases	TJ6; TJ6s; TJ6M; ATP6a2; J6B7; ATP6N1D; infantile malignant osteopetrosis; ATPase, H+ transporting, lysosoma ......
Chromosomal Location	12q24.31
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Distribution of ATP6V0A2 expression across immune and molecular subtypes. > Immune subtype > Molecular subtype

> Immune subtype [ TOP ]

> Molecular subtype [ TOP ]

Summary
Symbol	ATP6V0A2
Name	ATPase, H+ transporting, lysosomal V0 subunit a2
Aliases	TJ6; TJ6s; TJ6M; ATP6a2; J6B7; ATP6N1D; infantile malignant osteopetrosis; ATPase, H+ transporting, lysosoma ......
Chromosomal Location	12q24.31
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Associations between ATP6V0A2 and clinical features. > Overall survival analysis > Cancer stage > Tumor grade

> Overall survival [ TOP ]

> Stage [ TOP ]

> Grade [ TOP ]

Summary
Symbol	ATP6V0A2
Name	ATPase, H+ transporting, lysosomal V0 subunit a2
Aliases	TJ6; TJ6s; TJ6M; ATP6a2; J6B7; ATP6N1D; infantile malignant osteopetrosis; ATPase, H+ transporting, lysosoma ......
Chromosomal Location	12q24.31
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Drugs targeting ATP6V0A2 collected from DrugBank database.

> Drugs from DrugBank database [ TOP ]
There is no record.

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