ATP6V1C2 (ATPase H+ transporting V1 subunit C2)

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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 245973
• Gene name: ATPase H+ transporting V1 subunit C2
• Gene symbol: ATP6V1C2
• Synonyms (NCBI Gene): ATP6C2, VMA5
• Chromosome: 2
• Chromosome location: 2p25.1
• Summary: This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sort

miRNA Show/Hide all (290)

miRTarBase ID	miRNA	Experiments	Reference
MIRT021354	hsa-miR-9-5p	Microarray	17612493
MIRT809298	hsa-miR-1251	CLIP-seq
MIRT809299	hsa-miR-2116	CLIP-seq
MIRT809300	hsa-miR-3612	CLIP-seq
MIRT809301	hsa-miR-3924	CLIP-seq
MIRT809302	hsa-miR-432	CLIP-seq
MIRT809303	hsa-miR-4443	CLIP-seq
MIRT809304	hsa-miR-4477a	CLIP-seq
MIRT809305	hsa-miR-4637	CLIP-seq
MIRT809306	hsa-miR-4677-5p	CLIP-seq
MIRT809307	hsa-miR-4687-3p	CLIP-seq
MIRT809308	hsa-miR-485-5p	CLIP-seq
MIRT809309	hsa-miR-593	CLIP-seq
MIRT809310	hsa-miR-626	CLIP-seq
MIRT809311	hsa-miR-650	CLIP-seq
MIRT809312	hsa-miR-668	CLIP-seq
MIRT809313	hsa-miR-944	CLIP-seq
MIRT1939106	hsa-miR-1290	CLIP-seq
MIRT1939107	hsa-miR-3167	CLIP-seq
MIRT1939108	hsa-miR-3681	CLIP-seq
MIRT1939109	hsa-miR-876-5p	CLIP-seq
MIRT2178202	hsa-miR-302a	CLIP-seq
MIRT2178203	hsa-miR-302b	CLIP-seq
MIRT2178204	hsa-miR-302c	CLIP-seq
MIRT2178205	hsa-miR-302d	CLIP-seq
MIRT2178206	hsa-miR-302e	CLIP-seq
MIRT2178207	hsa-miR-3124-3p	CLIP-seq
MIRT2178208	hsa-miR-372	CLIP-seq
MIRT2178209	hsa-miR-373	CLIP-seq
MIRT2178210	hsa-miR-4457	CLIP-seq
MIRT2178211	hsa-miR-512-3p	CLIP-seq
MIRT2178212	hsa-miR-513b	CLIP-seq
MIRT2178213	hsa-miR-519a	CLIP-seq
MIRT2178214	hsa-miR-519b-3p	CLIP-seq
MIRT2178215	hsa-miR-519c-3p	CLIP-seq
MIRT2178216	hsa-miR-520a-3p	CLIP-seq
MIRT2178217	hsa-miR-520b	CLIP-seq
MIRT2178218	hsa-miR-520c-3p	CLIP-seq
MIRT2178219	hsa-miR-520d-3p	CLIP-seq
MIRT2178220	hsa-miR-520e	CLIP-seq
MIRT2384634	hsa-miR-3119	CLIP-seq
MIRT2444421	hsa-miR-1273e	CLIP-seq
MIRT2444422	hsa-miR-1278	CLIP-seq
MIRT2444423	hsa-miR-141	CLIP-seq
MIRT2444424	hsa-miR-146a	CLIP-seq
MIRT2444425	hsa-miR-146b-5p	CLIP-seq
MIRT2444426	hsa-miR-200a	CLIP-seq
MIRT809299	hsa-miR-2116	CLIP-seq
MIRT2444427	hsa-miR-219-2-3p	CLIP-seq
MIRT2444428	hsa-miR-24	CLIP-seq
MIRT2444429	hsa-miR-2964a-3p	CLIP-seq
MIRT2444430	hsa-miR-3074-5p	CLIP-seq
MIRT2444431	hsa-miR-3115	CLIP-seq
MIRT2444432	hsa-miR-3185	CLIP-seq
MIRT2444433	hsa-miR-345	CLIP-seq
MIRT809300	hsa-miR-3612	CLIP-seq
MIRT2444434	hsa-miR-3613-5p	CLIP-seq
MIRT2444435	hsa-miR-3677-5p	CLIP-seq
MIRT2444436	hsa-miR-3688-3p	CLIP-seq
MIRT2444437	hsa-miR-3921	CLIP-seq
MIRT809301	hsa-miR-3924	CLIP-seq
MIRT2444438	hsa-miR-4261	CLIP-seq
MIRT2444439	hsa-miR-4276	CLIP-seq
MIRT809302	hsa-miR-432	CLIP-seq
MIRT2444440	hsa-miR-4437	CLIP-seq
MIRT809303	hsa-miR-4443	CLIP-seq
MIRT2444441	hsa-miR-450b-5p	CLIP-seq
MIRT2444442	hsa-miR-4522	CLIP-seq
MIRT2444443	hsa-miR-4653-5p	CLIP-seq
MIRT2444444	hsa-miR-4666-5p	CLIP-seq
MIRT809306	hsa-miR-4677-5p	CLIP-seq
MIRT809307	hsa-miR-4687-3p	CLIP-seq
MIRT2444445	hsa-miR-4709-3p	CLIP-seq
MIRT2444446	hsa-miR-4709-5p	CLIP-seq
MIRT2444447	hsa-miR-4715-3p	CLIP-seq
MIRT2444448	hsa-miR-4722-3p	CLIP-seq
MIRT2444449	hsa-miR-4756-3p	CLIP-seq
MIRT2444450	hsa-miR-4768-5p	CLIP-seq
MIRT2444451	hsa-miR-4778-5p	CLIP-seq
MIRT2444452	hsa-miR-4785	CLIP-seq
MIRT2444453	hsa-miR-4802-3p	CLIP-seq
MIRT809308	hsa-miR-485-5p	CLIP-seq
MIRT2444454	hsa-miR-494	CLIP-seq
MIRT2444455	hsa-miR-507	CLIP-seq
MIRT2444456	hsa-miR-509-3p	CLIP-seq
MIRT2444457	hsa-miR-513c	CLIP-seq
MIRT2444458	hsa-miR-514b-5p	CLIP-seq
MIRT2444459	hsa-miR-557	CLIP-seq
MIRT2444460	hsa-miR-570	CLIP-seq
MIRT2444461	hsa-miR-579	CLIP-seq
MIRT2444462	hsa-miR-589	CLIP-seq
MIRT2444463	hsa-miR-627	CLIP-seq
MIRT2444464	hsa-miR-629	CLIP-seq
MIRT2444465	hsa-miR-630	CLIP-seq
MIRT2444466	hsa-miR-647	CLIP-seq
MIRT809311	hsa-miR-650	CLIP-seq
MIRT2444421	hsa-miR-1273e	CLIP-seq
MIRT809299	hsa-miR-2116	CLIP-seq
MIRT2444427	hsa-miR-219-2-3p	CLIP-seq
MIRT2444429	hsa-miR-2964a-3p	CLIP-seq
MIRT2444431	hsa-miR-3115	CLIP-seq
MIRT2444432	hsa-miR-3185	CLIP-seq
MIRT2444433	hsa-miR-345	CLIP-seq
MIRT809300	hsa-miR-3612	CLIP-seq
MIRT2444434	hsa-miR-3613-5p	CLIP-seq
MIRT2444436	hsa-miR-3688-3p	CLIP-seq
MIRT2444437	hsa-miR-3921	CLIP-seq
MIRT809301	hsa-miR-3924	CLIP-seq
MIRT809302	hsa-miR-432	CLIP-seq
MIRT809303	hsa-miR-4443	CLIP-seq
MIRT2444441	hsa-miR-450b-5p	CLIP-seq
MIRT2444443	hsa-miR-4653-5p	CLIP-seq
MIRT2444444	hsa-miR-4666-5p	CLIP-seq
MIRT809306	hsa-miR-4677-5p	CLIP-seq
MIRT809307	hsa-miR-4687-3p	CLIP-seq
MIRT2444445	hsa-miR-4709-3p	CLIP-seq
MIRT2444446	hsa-miR-4709-5p	CLIP-seq
MIRT2444447	hsa-miR-4715-3p	CLIP-seq
MIRT2444449	hsa-miR-4756-3p	CLIP-seq
MIRT2444450	hsa-miR-4768-5p	CLIP-seq
MIRT2444452	hsa-miR-4785	CLIP-seq
MIRT2444453	hsa-miR-4802-3p	CLIP-seq
MIRT809308	hsa-miR-485-5p	CLIP-seq
MIRT2444454	hsa-miR-494	CLIP-seq
MIRT2444455	hsa-miR-507	CLIP-seq
MIRT2444457	hsa-miR-513c	CLIP-seq
MIRT2444458	hsa-miR-514b-5p	CLIP-seq
MIRT2444459	hsa-miR-557	CLIP-seq
MIRT2444460	hsa-miR-570	CLIP-seq
MIRT2444463	hsa-miR-627	CLIP-seq
MIRT2444464	hsa-miR-629	CLIP-seq
MIRT2444466	hsa-miR-647	CLIP-seq
MIRT809311	hsa-miR-650	CLIP-seq
MIRT809298	hsa-miR-1251	CLIP-seq
MIRT2444421	hsa-miR-1273e	CLIP-seq
MIRT2444422	hsa-miR-1278	CLIP-seq
MIRT2481981	hsa-miR-135a	CLIP-seq
MIRT2481982	hsa-miR-135b	CLIP-seq
MIRT2444424	hsa-miR-146a	CLIP-seq
MIRT2444425	hsa-miR-146b-5p	CLIP-seq
MIRT2481983	hsa-miR-1587	CLIP-seq
MIRT2481984	hsa-miR-186	CLIP-seq
MIRT2481985	hsa-miR-188-5p	CLIP-seq
MIRT2481986	hsa-miR-205	CLIP-seq
MIRT809299	hsa-miR-2116	CLIP-seq
MIRT2444427	hsa-miR-219-2-3p	CLIP-seq
MIRT2444428	hsa-miR-24	CLIP-seq
MIRT2444429	hsa-miR-2964a-3p	CLIP-seq
MIRT2444430	hsa-miR-3074-5p	CLIP-seq
MIRT2444431	hsa-miR-3115	CLIP-seq
MIRT2384634	hsa-miR-3119	CLIP-seq
MIRT2481987	hsa-miR-3133	CLIP-seq
MIRT2444432	hsa-miR-3185	CLIP-seq
MIRT2444433	hsa-miR-345	CLIP-seq
MIRT809300	hsa-miR-3612	CLIP-seq
MIRT2444434	hsa-miR-3613-5p	CLIP-seq
MIRT2444435	hsa-miR-3677-5p	CLIP-seq
MIRT2444436	hsa-miR-3688-3p	CLIP-seq
MIRT2444437	hsa-miR-3921	CLIP-seq
MIRT809301	hsa-miR-3924	CLIP-seq
MIRT2444438	hsa-miR-4261	CLIP-seq
MIRT2444439	hsa-miR-4276	CLIP-seq
MIRT809302	hsa-miR-432	CLIP-seq
MIRT2444440	hsa-miR-4437	CLIP-seq
MIRT809303	hsa-miR-4443	CLIP-seq
MIRT2481988	hsa-miR-4492	CLIP-seq
MIRT2481989	hsa-miR-4498	CLIP-seq
MIRT2444441	hsa-miR-450b-5p	CLIP-seq
MIRT2444442	hsa-miR-4522	CLIP-seq
MIRT2444443	hsa-miR-4653-5p	CLIP-seq
MIRT2481990	hsa-miR-4656	CLIP-seq
MIRT2444444	hsa-miR-4666-5p	CLIP-seq
MIRT2481991	hsa-miR-4674	CLIP-seq
MIRT2481992	hsa-miR-4675	CLIP-seq
MIRT809306	hsa-miR-4677-5p	CLIP-seq
MIRT809307	hsa-miR-4687-3p	CLIP-seq
MIRT2444445	hsa-miR-4709-3p	CLIP-seq
MIRT2444446	hsa-miR-4709-5p	CLIP-seq
MIRT2444447	hsa-miR-4715-3p	CLIP-seq
MIRT2444448	hsa-miR-4722-3p	CLIP-seq
MIRT2481993	hsa-miR-4741	CLIP-seq
MIRT2444449	hsa-miR-4756-3p	CLIP-seq
MIRT2444450	hsa-miR-4768-5p	CLIP-seq
MIRT2444451	hsa-miR-4778-5p	CLIP-seq
MIRT2444452	hsa-miR-4785	CLIP-seq
MIRT2444453	hsa-miR-4802-3p	CLIP-seq
MIRT809308	hsa-miR-485-5p	CLIP-seq
MIRT2444454	hsa-miR-494	CLIP-seq
MIRT2444455	hsa-miR-507	CLIP-seq
MIRT2444456	hsa-miR-509-3p	CLIP-seq
MIRT2481994	hsa-miR-511	CLIP-seq
MIRT2444457	hsa-miR-513c	CLIP-seq
MIRT2444458	hsa-miR-514b-5p	CLIP-seq
MIRT2444459	hsa-miR-557	CLIP-seq
MIRT2444460	hsa-miR-570	CLIP-seq
MIRT2444461	hsa-miR-579	CLIP-seq
MIRT2481995	hsa-miR-587	CLIP-seq
MIRT2444462	hsa-miR-589	CLIP-seq
MIRT809309	hsa-miR-593	CLIP-seq
MIRT809310	hsa-miR-626	CLIP-seq
MIRT2444463	hsa-miR-627	CLIP-seq
MIRT2444464	hsa-miR-629	CLIP-seq
MIRT2444465	hsa-miR-630	CLIP-seq
MIRT2444466	hsa-miR-647	CLIP-seq
MIRT809311	hsa-miR-650	CLIP-seq
MIRT2481996	hsa-miR-762	CLIP-seq
MIRT2481997	hsa-miR-885-5p	CLIP-seq
MIRT2481998	hsa-miR-9	CLIP-seq
MIRT809313	hsa-miR-944	CLIP-seq
MIRT809307	hsa-miR-4687-3p	CLIP-seq
MIRT2675736	hsa-miR-1245b-3p	CLIP-seq
MIRT809298	hsa-miR-1251	CLIP-seq
MIRT2444421	hsa-miR-1273e	CLIP-seq
MIRT2444422	hsa-miR-1278	CLIP-seq
MIRT2481981	hsa-miR-135a	CLIP-seq
MIRT2481982	hsa-miR-135b	CLIP-seq
MIRT2444423	hsa-miR-141	CLIP-seq
MIRT2444424	hsa-miR-146a	CLIP-seq
MIRT2444425	hsa-miR-146b-5p	CLIP-seq
MIRT2481983	hsa-miR-1587	CLIP-seq
MIRT2481984	hsa-miR-186	CLIP-seq
MIRT2481985	hsa-miR-188-5p	CLIP-seq
MIRT2444426	hsa-miR-200a	CLIP-seq
MIRT2481986	hsa-miR-205	CLIP-seq
MIRT809299	hsa-miR-2116	CLIP-seq
MIRT2444427	hsa-miR-219-2-3p	CLIP-seq
MIRT2444428	hsa-miR-24	CLIP-seq
MIRT2444429	hsa-miR-2964a-3p	CLIP-seq
MIRT2444430	hsa-miR-3074-5p	CLIP-seq
MIRT2444431	hsa-miR-3115	CLIP-seq
MIRT2384634	hsa-miR-3119	CLIP-seq
MIRT2481987	hsa-miR-3133	CLIP-seq
MIRT2444432	hsa-miR-3185	CLIP-seq
MIRT2444433	hsa-miR-345	CLIP-seq
MIRT809300	hsa-miR-3612	CLIP-seq
MIRT2444434	hsa-miR-3613-5p	CLIP-seq
MIRT2444435	hsa-miR-3677-5p	CLIP-seq
MIRT2444436	hsa-miR-3688-3p	CLIP-seq
MIRT2444437	hsa-miR-3921	CLIP-seq
MIRT809301	hsa-miR-3924	CLIP-seq
MIRT2444438	hsa-miR-4261	CLIP-seq
MIRT2444439	hsa-miR-4276	CLIP-seq
MIRT809302	hsa-miR-432	CLIP-seq
MIRT2675737	hsa-miR-4330	CLIP-seq
MIRT2444440	hsa-miR-4437	CLIP-seq
MIRT809303	hsa-miR-4443	CLIP-seq
MIRT2481988	hsa-miR-4492	CLIP-seq
MIRT2481989	hsa-miR-4498	CLIP-seq
MIRT2444441	hsa-miR-450b-5p	CLIP-seq
MIRT2444442	hsa-miR-4522	CLIP-seq
MIRT2444443	hsa-miR-4653-5p	CLIP-seq
MIRT2481990	hsa-miR-4656	CLIP-seq
MIRT2444444	hsa-miR-4666-5p	CLIP-seq
MIRT2481991	hsa-miR-4674	CLIP-seq
MIRT2481992	hsa-miR-4675	CLIP-seq
MIRT809306	hsa-miR-4677-5p	CLIP-seq
MIRT809307	hsa-miR-4687-3p	CLIP-seq
MIRT2444445	hsa-miR-4709-3p	CLIP-seq
MIRT2444446	hsa-miR-4709-5p	CLIP-seq
MIRT2444447	hsa-miR-4715-3p	CLIP-seq
MIRT2444448	hsa-miR-4722-3p	CLIP-seq
MIRT2481993	hsa-miR-4741	CLIP-seq
MIRT2444449	hsa-miR-4756-3p	CLIP-seq
MIRT2444450	hsa-miR-4768-5p	CLIP-seq
MIRT2675738	hsa-miR-4772-3p	CLIP-seq
MIRT2444451	hsa-miR-4778-5p	CLIP-seq
MIRT2444452	hsa-miR-4785	CLIP-seq
MIRT2444453	hsa-miR-4802-3p	CLIP-seq
MIRT809308	hsa-miR-485-5p	CLIP-seq
MIRT2444454	hsa-miR-494	CLIP-seq
MIRT2444455	hsa-miR-507	CLIP-seq
MIRT2444456	hsa-miR-509-3p	CLIP-seq
MIRT2481994	hsa-miR-511	CLIP-seq
MIRT2444457	hsa-miR-513c	CLIP-seq
MIRT2444458	hsa-miR-514b-5p	CLIP-seq
MIRT2444459	hsa-miR-557	CLIP-seq
MIRT2444460	hsa-miR-570	CLIP-seq
MIRT2444461	hsa-miR-579	CLIP-seq
MIRT2481995	hsa-miR-587	CLIP-seq
MIRT2444462	hsa-miR-589	CLIP-seq
MIRT809309	hsa-miR-593	CLIP-seq
MIRT809310	hsa-miR-626	CLIP-seq
MIRT2444463	hsa-miR-627	CLIP-seq
MIRT2444464	hsa-miR-629	CLIP-seq
MIRT2444465	hsa-miR-630	CLIP-seq
MIRT2444466	hsa-miR-647	CLIP-seq
MIRT809311	hsa-miR-650	CLIP-seq
MIRT2481996	hsa-miR-762	CLIP-seq
MIRT2481997	hsa-miR-885-5p	CLIP-seq
MIRT2481998	hsa-miR-9	CLIP-seq

Gene ontology (GO) Show/Hide all (14)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000221	Component	Vacuolar proton-transporting V-type ATPase, V1 domain	IBA
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005829	Component	Cytosol	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0015078	Function	Proton transmembrane transporter activity	IEA
GO:0016241	Process	Regulation of macroautophagy	NAS	22982048
GO:0030177	Process	Positive regulation of Wnt signaling pathway	IMP	20093472
GO:0033180	Component	Proton-transporting V-type ATPase, V1 domain	IEA
GO:0042802	Function	Identical protein binding	IPI	21356312
GO:0046961	Function	Proton-transporting ATPase activity, rotational mechanism	IBA
GO:0046961	Function	Proton-transporting ATPase activity, rotational mechanism	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:1902600	Process	Proton transmembrane transport	IEA

Other IDs

• MIM: 618070
• HGNC: 18264
• e!Ensembl: ENSG00000143882

Protein

• UniProt ID: Q8NEY4
• Protein name: V-type proton ATPase subunit C 2 (V-ATPase subunit C 2) (Vacuolar proton pump subunit C 2)
• Protein function: Subunit of the V1 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons (By similarity). V-ATPase is responsible
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03223	V-ATPase_C	4 → 417	V-ATPase subunit C	Family

• Tissue specificity: TISSUE SPECIFICITY: Kidney and placenta. {ECO:0000269|PubMed:12384298}.
• Sequence:

  MSEFWLISAPGDKENLQALERMNTVTSKSNLSYNTKFAIPDFKVGTLDSLVGLSDELGKL
  DTFAESLIRRMAQSVVEVMEDSKGKVQEHLLANGVDLTSFVTHFEWDMAKYPVKQPLVSV
  VDTIAKQLAQIEMDLKSRTAAYNTLKTNLENLEKKSMGNLFTRTLSDIVSKEDFVLDSEY
  LVTLLVIVPKPNYSQWQKTYESLSDMVVPRSTKLITEDKEGGLFTVTLFRKVIEDFKTKA
  KENKFTVREFYYDEKEIEREREEMARLLSDKKQQYQTSCVALKKGSSTFPDHKVKVTPLG
  NPDRPAAGQTDRERESEGEGEGPLLRWLKVNFSEAFIAWIHIKALRVFVESVLRYGLPVN
  FQAVLLQPHKKSSTKRLREVLNSVFRHLDEVAATSILDASVEIPGLQLNNQDYFPYVYFH
  IDLSLLD

• Sequence length: 427

Pathways

KEGG Pathway	Reactome Pathway
Oxidative phosphorylation	ROS and RNS production in phagocytes
Metabolic pathways	Insulin receptor recycling
Phagosome	Transferrin endocytosis and recycling
mTOR signaling pathway	Amino acids regulate mTORC1
Synaptic vesicle cycle	Ion channel transport
Collecting duct acid secretion
Vibrio cholerae infection
Epithelial cell signaling in Helicobacter pylori infection
Human papillomavirus infection
Rheumatoid arthritis

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Distal renal tubular acidosis	Likely pathogenic	rs150980575	RCV001849707	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
DEMENTIA	—	GWAS catalog	39046104	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Glioma	Glioma	Pubtator	35266851	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	27706618		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

ATP6V1B1 1 shared diseaseDistal renal tubular acidosis 13 shared pathwaysOxidative phosphorylation, Phagosome, mTOR signaling pathway, Synaptic vesicle cycle, Collecting duct acid secretion, Vibrio cholerae infection, Epithelial cell signaling in Helicobacter pylori infection, Rheumatoid arthritis, ROS and RNS production in phagocytes, Insulin receptor recycling, Transferrin endocytosis and recycling, Amino acids regulate mTORC1 +1 more 1 shared evidence sourceDisgenet (Distal renal tubular acidosis) Related via 13 shared pathways including Oxidative phosphorylation, Phagosome — evidence mostly Disgenet. ATP6V1G3 13 shared pathwaysOxidative phosphorylation, Phagosome, mTOR signaling pathway, Synaptic vesicle cycle, Collecting duct acid secretion, Vibrio cholerae infection, Epithelial cell signaling in Helicobacter pylori infection, Rheumatoid arthritis, ROS and RNS production in phagocytes, Insulin receptor recycling, Transferrin endocytosis and recycling, Amino acids regulate mTORC1 +1 more Related via 13 shared pathways including Oxidative phosphorylation, Phagosome. ATP6V1D 13 shared pathwaysOxidative phosphorylation, Phagosome, mTOR signaling pathway, Synaptic vesicle cycle, Collecting duct acid secretion, Vibrio cholerae infection, Epithelial cell signaling in Helicobacter pylori infection, Rheumatoid arthritis, ROS and RNS production in phagocytes, Insulin receptor recycling, Transferrin endocytosis and recycling, Amino acids regulate mTORC1 +1 more Related via 13 shared pathways including Oxidative phosphorylation, Phagosome. ATP6V1A 13 shared pathwaysOxidative phosphorylation, Phagosome, mTOR signaling pathway, Synaptic vesicle cycle, Collecting duct acid secretion, Vibrio cholerae infection, Epithelial cell signaling in Helicobacter pylori infection, Rheumatoid arthritis, ROS and RNS production in phagocytes, Insulin receptor recycling, Transferrin endocytosis and recycling, Amino acids regulate mTORC1 +1 more Related via 13 shared pathways including Oxidative phosphorylation, Phagosome. ATP6V1B2 13 shared pathwaysOxidative phosphorylation, Phagosome, mTOR signaling pathway, Synaptic vesicle cycle, Collecting duct acid secretion, Vibrio cholerae infection, Epithelial cell signaling in Helicobacter pylori infection, Rheumatoid arthritis, ROS and RNS production in phagocytes, Insulin receptor recycling, Transferrin endocytosis and recycling, Amino acids regulate mTORC1 +1 more Related via 13 shared pathways including Oxidative phosphorylation, Phagosome.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
ATP6V1B1	1	["Distal renal tubular acidosis"]	13	["Oxidative phosphorylation","Phagosome","mTOR signaling pathway","Synaptic vesicle cycle","Collecting duct acid secretion","Vibrio cholerae infection","Epithelial cell signaling in Helicobacter pylori infection","Rheumatoid arthritis","ROS and RNS production in phagocytes","Insulin receptor recycling","Transferrin endocytosis and recycling","Amino acids regulate mTORC1"]	1	["Disgenet (Distal renal tubular acidosis)"]
ATP6V1G3	0	[]	13	["Oxidative phosphorylation","Phagosome","mTOR signaling pathway","Synaptic vesicle cycle","Collecting duct acid secretion","Vibrio cholerae infection","Epithelial cell signaling in Helicobacter pylori infection","Rheumatoid arthritis","ROS and RNS production in phagocytes","Insulin receptor recycling","Transferrin endocytosis and recycling","Amino acids regulate mTORC1"]	0	[]
ATP6V1D	0	[]	13	["Oxidative phosphorylation","Phagosome","mTOR signaling pathway","Synaptic vesicle cycle","Collecting duct acid secretion","Vibrio cholerae infection","Epithelial cell signaling in Helicobacter pylori infection","Rheumatoid arthritis","ROS and RNS production in phagocytes","Insulin receptor recycling","Transferrin endocytosis and recycling","Amino acids regulate mTORC1"]	0	[]
ATP6V1A	0	[]	13	["Oxidative phosphorylation","Phagosome","mTOR signaling pathway","Synaptic vesicle cycle","Collecting duct acid secretion","Vibrio cholerae infection","Epithelial cell signaling in Helicobacter pylori infection","Rheumatoid arthritis","ROS and RNS production in phagocytes","Insulin receptor recycling","Transferrin endocytosis and recycling","Amino acids regulate mTORC1"]	0	[]
ATP6V1B2	0	[]	13	["Oxidative phosphorylation","Phagosome","mTOR signaling pathway","Synaptic vesicle cycle","Collecting duct acid secretion","Vibrio cholerae infection","Epithelial cell signaling in Helicobacter pylori infection","Rheumatoid arthritis","ROS and RNS production in phagocytes","Insulin receptor recycling","Transferrin endocytosis and recycling","Amino acids regulate mTORC1"]	0	[]

Diseases Linked via Similar Genes

Bipolar disorder Linked via 2 of 5 related genesATP6V1G3, ATP6V1B2 Developmental and epileptic encephalopathy Linked via 2 of 5 related genesATP6V1A, ATP6V1B2 Gout Linked via 1 of 5 related genesATP6V1B1 Hearing loss Linked via 1 of 5 related genesATP6V1B1 Nephrolithiasis Linked via 1 of 5 related genesATP6V1B1

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Bipolar disorder	2	["ATP6V1G3","ATP6V1B2"]
Developmental and epileptic encephalopathy	2	["ATP6V1A","ATP6V1B2"]
Gout	1	["ATP6V1B1"]
Hearing loss	1	["ATP6V1B1"]
Nephrolithiasis	1	["ATP6V1B1"]