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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ATP6V0E2 Gene

protein-coding GIFtS: 53
GCID: GC07P149570

ATPase, H+ transporting V0 subunit e2

(Previous names: chromosome 7 open reading frame 32, ATPase, H+ transporting...)
(Previous symbols: C7orf32, ATP6V0E2L)

Explore 7 diseases affiliated with
ATP6V0E2 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
ATPase, H+ Transporting V0 Subunit E2¹ ²		ATPase, H+ Transporting V0 Subunit E Isoform 2-Like (Rat)¹
ATP6V0E2L¹ ² ³		Chromosome 7 Open Reading Frame 32¹
C7orf32¹ ² ³		H+-ATPase E2 Subunit²
Lysosomal 9 KDa H(+)-Transporting ATPase V0 Subunit E2² ³		V-Type Proton ATPase Subunit E 2²
Vacuolar Proton Pump Subunit E 2² ³		Vacuolar Proton-ATPase Subunit²
V-ATPase Subunit E 2² ³

External Ids:	HGNC: 21723¹	Entrez Gene: 155066²	Ensembl: ENSG00000171130⁷	OMIM: 611019⁵	UniProtKB: Q8NHE4³

Export aliases for ATP6V0E2 gene to outside databases

Previous GC identifers: GC07P149201 GC07P143645

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ATP6V0E2:

Multisubunit vacuolar-type proton pumps, or H(+)-ATPases, acidify various intracellular compartments, such as vacuoles,

clathrin-coated and synaptic vesicles, endosomes, lysosomes, and chromaffin granules. H(+)-ATPases are also found in

plasma membranes of specialized cells, where they play roles in urinary acidification, bone resorption, and sperm

maturation. Multiple subunits form H(+)-ATPases, with proteins of the V1 class hydrolyzing ATP for energy to transport

H+, and proteins of the V0 class forming an integral membrane domain through which H+ is transported. ATP6V0E2 encodes

an isoform of the H(+)-ATPase V0 e subunit, an essential proton pump component (Blake-Palmer et al., 2007 (PubMed

17350184)).(supplied by OMIM, Mar 2008)

UniProtKB/Swiss-Prot: VA0E2_HUMAN, Q8NHE4

Function: Vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells (By

similarity)

summary for ATP6V0E2:

H+-ATPase (also known as vacuolar ATPase, V-ATPase) is a enzyme transporter that functions to acidify

intracellular compartments in eukaryotic cells. It is ubiquitously expressed and is present in endomembrane

organelles such as vacuoles, lysosomes, endosomes, the Golgi apparatus, chromaffin granules and coated

vesicles, as well as in the plasma membrane. H+-ATPase is a multisubunit complex composed of two domains.

The V1 domain is responsible for ATP hydrolysis and the V0 domain is responsible for protein translocation.

There are two main mechanisms of regulating H+-ATPase activity; recycling of H+-ATPase-containing vesicles

to and from the plasma membrane and glucose-sensitive assembly/disassembly of the holoenzyme complex. These

transporters play an important role in processes such as receptor-mediated endocytosis, protein degradation

and coupled transport. They have a function in bone reabsorption and mutations in the A3 gene cause

recessive osteopetrosis. Furthermore, H+-ATPases have been implicated in tumor metastasis and regulation of

sperm motility and maturation.

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000007.13 NC_018918.1 NT_007914.15 NT_079596.2

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the ATP6V0E2 gene promoter:
Oct-B1 NF-1/L NF-1 HOXA3 AML1a MyoD Arnt RORalpha1 ATF6
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 4): ATP6V0E2 promoter sequence

Search SABiosciences Chromatin IP Primers for ATP6V0E2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ATP6V0E2

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q36.1 Ensembl cytogenetic band: 7q36.1 HGNC cytogenetic band: 7q36.1

ATP6V0E2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATP6V0E2 gene location

GeneLoc information about chromosome 7 GeneLoc Exon Structure

GeneLoc location for GC07P149570: view genomic region (about GC identifiers)

Start:	149,570,057 bp from pter	End:	149,577,787 bp from pter
Size:	7,731 bases	Orientation:	plus strand

1 alternative location:

Chr7+,CRA_TCAG 148,908,071-148,915,657

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: VA0E2_HUMAN, Q8NHE4 (See protein sequence)

Recommended Name: V-type proton ATPase subunit e 2

Size: 81 amino acids; 9184 Da

Subunit: Composed of at least 10 subunits

Subcellular location: Membrane; Multi-pass membrane protein (Potential)

Sequence caution: Sequence=AAP97693.1; Type=Frameshift; Positions=80, 108; Sequence=AAQ96859.1; Type=Erroneous gene

model prediction; Sequence=BAC05292.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

Sequence=CAE45916.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

Secondary accessions: A2T863 A2T8L7 B5MDP5 J3KQW7 Q6MZW1 Q75L47 Q7Z4R7 Q8N7I8

Alternative splicing: 4 isoforms: Q8NHE4-1 Q8NHE4-2 Q8NHE4-3 Q8NHE4-4 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ATP6V0E2: NX_Q8NHE4

ATP6V0E2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001094062.1 NP_660265.2

ENSEMBL proteins:

ENSP00000411672 ENSP00000410220 ENSP00000420012 ENSP00000417939 ENSP00000420679

ENSP00000396148

Reactome Protein details: Q8NHE4
Human Recombinant Protein Products for ATP6V0E2:

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	Uscn Proteins for ATP6V0E2

Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005773	vacuole	--	--
GO:0010008	endosome membrane	TAS	--
GO:0016021	integral to membrane	NAS	17350184
GO:0030670	phagocytic vesicle membrane	TAS	--
GO:0033179	proton-transporting V-type ATPase, V0 domain	IEA	--

ATP6V0E2 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for ATP6V0E2

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

ATP6V0E2 for domains About GeneDecksing

2 InterPro domains/families:

IPR008389 ATPase_V0-cplx_e1/e2_su

IPR017385 ATPase_V0-cplx_e1/e2_su_met

Graphical View of Domain Structure for InterPro Entry Q8NHE4

ProtoNet protein and cluster: Q8NHE4

1 Blocks protein family: IPB008389 ATP synthase subunit H

UniProtKB/Swiss-Prot: VA0E2_HUMAN, Q8NHE4

Similarity: Belongs to the V-ATPase e1/e2 subunit family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: VA0E2_HUMAN, Q8NHE4

Function: Vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells (By

similarity)

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0015078	hydrogen ion transmembrane transporter activity	IEA	--
GO:0042625	ATPase activity, coupled to transmembrane movement of ions	ISS	--

ATP6V0E2 for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for ATP6V0E2:

Decreased influenza A virus in

Animal Models:

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATP6V0E2

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/9 super-pathways (see all 9) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Insulin receptor recycling

Insulin receptor recycling	1.00	Latent infection of Homo sapiens with Mycobacterium tuberculosis	0.64
Transferrin endocytosis and recycling	0.79	Iron uptake and transport	0.56
Collecting duct acid secretion	0.68	Vibrio cholerae infection	0.41
Phagosomal maturation (early endosomal stage)	0.64	Epithelial cell signaling in Helicobacter pylori infection	0.33

Disease

Disease

1.00

Rheumatoid arthritis

Rheumatoid arthritis

1.00

Phagosome

Phagosome

1.00

IRS-related events

Signaling by Insulin receptor

0.74

Pathway sources
See GeneCards unified pathways
Show all pathways

5/9 Reactome Pathways for ATP6V0E2 (see all 9)

	Insulin receptor recycling
	Phagosomal maturation (early endosomal stage)
	Latent infection of Homo sapiens with Mycobacterium tuberculosis
	Iron uptake and transport
	Disease

5/7 Kegg Pathways (Kegg details for ATP6V0E2) (see all 7):

	Oxidative phosphorylation
	Metabolic pathways
	Phagosome
	Collecting duct acid secretion
	Vibrio cholerae infection

ATP6V0E2 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for ATP6V0E2

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/55 Interacting proteins for ATP6V0E2 (ENSP00000411672⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 55)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ATP6V0E1	ENSP00000265093⁴	STRING: ENSP00000265093
ATP6V0A1	ENSP00000264649⁴	STRING: ENSP00000264649
ATP6V0A2	ENSP00000332247⁴	STRING: ENSP00000332247
ATP6V0A4	ENSP00000253856⁴	STRING: ENSP00000253856
ATP6V0B	ENSP00000236067⁴	STRING: ENSP00000236067

About this table

Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006879	cellular iron ion homeostasis	TAS	--
GO:0007035	vacuolar acidification	ISS	--
GO:0008286	insulin receptor signaling pathway	TAS	--
GO:0015991	ATP hydrolysis coupled proton transport	IEA	--
GO:0016049	cell growth	IGI	17350184

ATP6V0E2 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

ATP6V0E2 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Compounds for ATP6V0E2 available from Tocris Bioscience About this table

Compound	Action	CAS #
Bafilomycin A1	H+-ATPase (vacuolar) inhibitor	[88899-55-2]
Concanamycin A	H+-ATPase (vacuolar) inhibitor	[80890-47-7]

4 HMDB Compounds for ATP6V0E2 About this table

Compound	Synonyms	CAS #	PubMed Ids
ADP	adenosindiphosphorsaeure (see all 8)	58-64-0	--
Adenosine triphosphate	5'-(tetrahydrogen triphosphate) Adenosine (see all 24)	56-65-5	--
Phosphate	NFB Orthophosphate (see all 13)	14265-44-2	--
Water	Dihydrogen oxide (see all 2)	7732-18-5	--

3 Novoseek chemical compound relationships for ATP6V0E2 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
bafilomycin a1	85.4	5	10948170 (1), 8523573 (1), 9811698 (1), 11240123 (1)
concanamycin a	83.8	2	8050591 (1), 8523573 (1)
hydrogen	50.6	19	9502788 (2), 16621796 (2), 11240123 (2), 17239604 (1) (see all 12)

Search CenterWatch for drugs/clinical trials and news about ATP6V0E2 / VA0E2

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for ATP6V0E2 gene (2 alternative transcripts):

NM_001100592.1 NM_145230.2

Unigene Cluster for ATP6V0E2:

ATPase, H+ transporting V0 subunit e2

Hs.698060 [show with all ESTs]

Unigene Representative Sequence: AF452639

10 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000421974(uc003wgo.1) ENST00000456496(uc003wgp.3 uc003wgr.3 uc003wgq.3)

ENST00000464683 ENST00000479613 ENST00000471877 ENST00000464662 ENST00000483478

ENST00000495408 ENST00000490092 ENST00000425642(uc003wgs.3)

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Additional cDNA sequence:

AF452639.1 AK057700.1 AK094602.1 AK098362.1 AK172725.1 AK290086.1 AY037164.1 BC015899.1

BX640846.1 DQ989009.1 DQ995344.1

24 DOTS entries:

DT.100840531 DT.101980276 DT.100882287 DT.121117244 DT.91783663 DT.95346780 DT.97847448 DT.121117156

DT.315312 DT.97847449 DT.100882310 DT.100882312 DT.100882318 DT.100882315 DT.121117202 DT.97795467

DT.100658267 DT.100770807 DT.100799130 DT.100882297 DT.121117185 DT.121117231 DT.95240846 DT.99938811

24/375 AceView cDNA sequences (see all 375):

BE858461 CF552941 CR597181 CR591680 BI755299 CR592252 BQ068210 AI688419

CB215863 CR603936 BM799524 CR623395 CR598722 AY037164 CR603983 CR618284

CR603296 BI824775 AK098362 CD673048 BM722712 CR614326 CR602705 CR597079

GeneLoc Exon Structure

5/11 Alternative Splicing Database (ASD) splice patterns (SP) for ATP6V0E2 (see all 11) About this scheme

ExUns:	1a	·	1b	·	1c	·	1d	^	2	^	3a	·	3b	^	4	^	5	^	6	^	7a	·	7b	^	8a	·	8b	^	9	^	10a	·	10b	·	10c	·	10d	·	10e	·	10f
SP1:									-		-		-				-		-						-		-
SP2:									-		-		-				-		-				-						-
SP3:									-		-		-				-								-		-		-
SP4:									-		-		-				-		-						-		-		-
SP5:									-		-		-						-

ECgene alternative splicing isoforms for ATP6V0E2

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

ATP6V0E2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CCAGTTCCTG

About this image

ATP6V0E2 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

PureStem™ progenitor SM22 (Embryonic Progenitor Cell)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See ATP6V0E2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ATP6V0E2

SOURCE GeneReport for Unigene cluster: Hs.698060

UniProtKB/Swiss-Prot: VA0E2_HUMAN, Q8NHE4

Tissue specificity: Isoform 1 is expressed at high levels in heart, brain and kidney and also detected in inner ear

epithelium, vestibule, testis, epididymis and bladder. Isoform 2 is expressed in heart, kidney, placenta and pancreas.

Isoform 2 is not detected in frontal cortex, but is prevalent in all other brain areas

SABiosciences Custom PCR Arrays for ATP6V0E2

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for ATP6V0E2 gene from 6/17 species (see all 17) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	ATP6V0E2¹	ATPase, H+ transporting V0 subunit e2	86.01(n) 90.12(a)		769770 XM_001233068.2 XP_001233069.1
lizard (Anolis carolinensis)	Reptilia	ATP6V0E2⁶	--	64(a)	1 ↔ 1	3(38352229-38354281)
tropical clawed frog (Xenopus tropicalis)	Amphibia	Str.15625²	Transcribed sequence with weak similarity to protein more	78.57(n)		BX729934.1
zebrafish (Danio rerio)	Actinopterygii	atpv0e2¹	ATPase, H+ transporting V0 subunit e2	68.72(n) 77.78(a)		553767 NM_001172635.1 NP_001166106.1
fruit fly (Drosophila melanogaster)	Insecta	VhaM9.7-a⁶ VhaM9.7-b⁶ (see all 4)	Vacuolar H[+] ATPase subunit M9.7-b (see all 4)	32(a) 26(a) (see all 4)	many ↔ many many ↔ many (see all 4)	3L(4262705-4263464) 3L(21532962-21534315)
worm (Caenorhabditis elegans)	Secernentea	vha-17⁶	V-type proton ATPase subunit e	31(a)	1 → many	IV(9321782-9322511)

ENSEMBL Gene Tree for ATP6V0E2 (if available)
TreeFam Gene Tree for ATP6V0E2 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for ATP6V0E2 gene

ATP6V0E1²

1 SIMAP similar gene for ATP6V0E2 using alignment to 3 protein entries: VA0E2_HUMAN (see all proteins):

ATP6V0E1

ATP6V0E2 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 7 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs138111951^1,2		--	149568159(+)	`CTCCTC/TCTACC`	3	--	us2k¹ int¹		0	--	--	--	--
rs78503146^1,2		--	149568201(+)	`ATGAAC/TGATAG`	3	--	us2k¹ int¹		1		EA	120
rs80178800^1,2	F	--	149568224(+)	`CATCAG/AGACCC`	3	--	us2k¹ int¹		1		EA	120
rs4725834^1,2	C,F,A,H	--	149568262(+)	`TGTCAA/GTCACA`	3	--	us2k¹ int¹		14		NA WA CSA EA	694
rs4725835^1,2	C,F,A,H	--	149568291(+)	`GAGCCG/ATGGCA`	3	--	int¹ us2k¹		14		NA WA CSA EA	514
rs62492845^1,2	C	--	149568304(+)	`GCAGTC/TGGTGG`	3	--	us2k¹ int¹		2		NA	122
rs192100505^1,2		--	149568310(+)	`GGTGGC/TGCCAA`	3	--	us2k¹ int¹		0	--	--	--	--
rs149511052^1,2		--	149568330(+)	`GAAGCC/TGCCAG`	3	--	int¹ us2k¹		0	--	--	--	--
rs184599542^1,2		--	149568331(+)	`AAGCCA/GCCAGG`	3	--	us2k¹ int¹		0	--	--	--	--
rs4725836^1,2	C,F,A,H	--	149568360(+)	`GCCAGC/TGGAAT`	3	--	us2k¹ int¹ tfbs³		15		NA WA CSA EA	694

HapMap Linkage Disequilibrium report for ATP6V0E2 (149570057 - 149577787 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 8 variations for ATP6V0E2
6 CNVs: 0727 31399 2716 3709 53781 52150
2 Indels: 47263 41580

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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ATP6V0E2 for disorders           About GeneDecksing

OMIM gene information: 611019    OMIM disorders: --

7 diseases for ATP6V0E2:    About MalaCards

osteopetrosis rheumatoid arthritis influenza cholera

arthritis melanoma neuronitis

2 Novoseek disease relationships for ATP6V0E2 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
virus infection	10.4	1	8050591 (1)
influenza	6.92	2	8050591 (1), 7884876 (1)

Export disorders for ATP6V0E2 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for ATP6V0E2 gene, integrated from 9 sources (see all 40):
(articles sorted by number of sources associating them with ATP6V0E2)

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Molecular cloning and characterization of a novel form of the human vacuolar H+-ATPase e-subunit: an essential proton pump component. (PubMed id 17350184)^{1, 2} Blake-Palmer K.G.... Karet F.E. (2007)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)² Bechtel S.... Schupp I. (2007)
Coupling of rotation and catalysis in F(1)-ATPase rev ealed by single-molecule imaging and manipulation. (PubMed id 17662945)¹ Adachi K....Kinosita K. (2007)
Signal sequence and keyword trap in silico for selection of full- length human cDNAs encoding secretion or membrane proteins from oligo- capped cDNA libraries. (PubMed id 16303743)¹ Otsuki T....Isogai T. (2005)
The DNA sequence of human chromosome 7. (PubMed id 12853948)² Hillier L.W.... Wilson R.K. (2003)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)¹ Strausberg R.L....Marra M.A. (2002)
Toward a complete human genome sequence. (PubMed id 9847074)¹ Wilson R. (1998)
Receptor-mediated endocytosis: the intracellular jour ney of transferrin and its receptor. (PubMed id 2874839)¹ Dautry-Varsat A. (1986)
In vivo treatment with granulocyte colony-stimulating factor does not delay apoptosis in human neutrophils by increasing the expression of the vacuolar proton ATPase. (PubMed id 11813826)⁹ Zimbelman J....Ambruso D.R. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 155066	HGNC: 21723	AceView: C7orf32	Ensembl:ENSG00000171130	euGenes: HUgn155066
ECgene: ATP6V0E2	Kegg: 155066	H-InvDB: ATP6V0E2

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for ATP6V0E2	Pharmacogenomics, SNPs, Pathways

Intellectual Property for ATP6V0E2 gene
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Patent Information for ATP6V0E2 gene:
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ATP6V0E2 Gene

ATPase, H+ transporting V0 subunit e2

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ATP6V0E2 Gene

ATPase, H+ transporting V0 subunit e2

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