ATP6V1E2 (ATPase H+ transporting V1 subunit E2)

Gene

• Entrez ID: 90423
• Gene name: ATPase H+ transporting V1 subunit E2
• Gene symbol: ATP6V1E2
• Synonyms: ATP6E1, ATP6EL2, ATP6V1EL2, VMA4
• Chromosome: 2
• Chromosome location: 2p21|2p16-p12

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT052816	hsa-miR-3200-3p	CLASH	23622248
MIRT809386	hsa-miR-141	CLIP-seq
MIRT809387	hsa-miR-144	CLIP-seq
MIRT809388	hsa-miR-200a	CLIP-seq
MIRT809389	hsa-miR-3185	CLIP-seq
MIRT809390	hsa-miR-361-5p	CLIP-seq
MIRT809391	hsa-miR-3923	CLIP-seq
MIRT809392	hsa-miR-3973	CLIP-seq
MIRT809393	hsa-miR-4261	CLIP-seq
MIRT809394	hsa-miR-4496	CLIP-seq
MIRT809395	hsa-miR-4773	CLIP-seq
MIRT809396	hsa-miR-520g	CLIP-seq
MIRT809397	hsa-miR-520h	CLIP-seq
MIRT809398	hsa-miR-583	CLIP-seq
MIRT809399	hsa-miR-607	CLIP-seq
MIRT809391	hsa-miR-3923	CLIP-seq
MIRT809393	hsa-miR-4261	CLIP-seq
MIRT809394	hsa-miR-4496	CLIP-seq
MIRT809398	hsa-miR-583	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001669	Component	Acrosomal vesicle	IEA
GO:0005515	Function	Protein binding	IPI	21516116, 25416956, 30021884, 32296183
GO:0005829	Component	Cytosol	TAS
GO:0008286	Process	Insulin receptor signaling pathway	TAS
GO:0008553	Function	Proton-exporting ATPase activity, phosphorylative mechanism	IBA	21873635
GO:0016241	Process	Regulation of macroautophagy	NAS	22982048
GO:0033178	Component	Proton-transporting two-sector ATPase complex, catalytic domain	IEA
GO:0033572	Process	Transferrin transport	TAS
GO:0034220	Process	Ion transmembrane transport	TAS
GO:0046961	Function	Proton-transporting ATPase activity, rotational mechanism	IEA
GO:0090383	Process	Phagosome acidification	TAS
GO:1902600	Process	Proton transmembrane transport	IEA

Other IDs

• MIM: 617385
• HGNC: 18125
• e!Ensembl: ENSG00000250565

Protein

• UniProt ID: Q96A05
• Protein name: V-type proton ATPase subunit E 2 (V-ATPase subunit E 2) (Vacuolar proton pump subunit E 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. V-ATPase is responsible for acidifying a
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01991	vATP-synt_E	18 → 216	ATP synthase (E/31 kDa) subunit	Family

• Sequence:

  MALSDVDVKKQIKHMMAFIEQEANEKAEEIDAKAEEEFNIEKGRLVQTQRLKIMEYYEKK
  EKQIEQQKKILMSTMRNQARLKVLRARNDLISDLLSEAKLRLSRIVEDPEVYQGLLDKLV
  LQGLLRLLEPVMIVRCRPQDLLLVEAAVQKAIPEYMTISQKHVEVQIDKEAYLAVNAAGG
  VEVYSGNQRIKVSNTLESRLDLSAKQKMPEIRMALFGANTNRKFFI

• Sequence length: 226

Pathways

KEGG:

Oxidative phosphorylation
Metabolic pathways
Phagosome
mTOR signaling pathway
Synaptic vesicle cycle
Collecting duct acid secretion
Vibrio cholerae infection
Epithelial cell signaling in Helicobacter pylori infection
Human papillomavirus infection
Rheumatoid arthritis

Reactome:

ROS and RNS production in phagocytes
Insulin receptor recycling
Transferrin endocytosis and recycling
Amino acids regulate mTORC1
Ion channel transport

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Schizophrenia	Schizophrenia	rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	29064472

Unknown
Disease name	Disease term	dbSNP ID	References
Bipolar disorder	Bipolar Disorder		29064472
Schizoaffective disorder	Schizoaffective Disorder		29064472