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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ATP6V0E2 Gene

protein-coding   GIFtS: 55
GCID: GC07P149570

ATPase, H+ Transporting V0 Subunit E2

(Previous names: chromosome 7 open reading frame 32, ATPase, H+ transporting...)
(Previous symbols: C7orf32, ATP6V0E2L)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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 Gene:
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)

GeneCards Summary for ATP6V0E2 Gene: 
ATP6V0E2 (ATPase, H+ transporting V0 subunit e2) is a protein-coding gene. Diseases associated with ATP6V0E2 include osteopetrosis, and influenza, and among its related super-pathways are Insulin receptor recycling and Insulin receptor signalling cascade. GO annotations related to this gene include hydrogen ion transmembrane transporter activity and ATPase activity, coupled to transmembrane movement of ions. An important paralog of this gene is ATP6V0E1.

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 Gene:
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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NT_007914.15  NC_018918.2  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
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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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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 MOPED1, PaxDb2 and MAXQB3 : --

REFSEQ proteins (2 alternative transcripts): 
NP_001094062.1  NP_660265.2  

ENSEMBL proteins: 
 ENSP00000411672   ENSP00000410220   ENSP00000420012   ENSP00000417939   ENSP00000475904  
 ENSP00000420679   ENSP00000475645   ENSP00000396148  
Reactome Protein details: Q8NHE4
Human Recombinant Protein Products for ATP6V0E2: 
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Cloud-Clone Corp. Proteins for ATP6V0E2 

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0010008endosome membrane TAS--
GO:0016021integral to membrane NAS17350184
GO:0030670phagocytic vesicle membrane TAS--
GO:0033179proton-transporting V-type ATPase, V0 domain IEA--

ATP6V0E2 for ontologies           About GeneDecksing



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Cloud-Clone Corp. CLIAs for ATP6V0E2


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
HGNC Gene Families: 
VATP: ATPases / V-type

IUPHAR Guide to PHARMACOLOGY protein family classification: e2 
V-type ATPase

2 InterPro protein domains:
 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 domain: IPB008389 ATP synthase subunit H

UniProtKB/Swiss-Prot: VA0E2_HUMAN, Q8NHE4
Similarity: Belongs to the V-ATPase e1/e2 subunit family


ATP6V0E2 for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, 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, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 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 IDQualified GO termEvidencePubMed IDs
GO:0015078hydrogen ion transmembrane transporter activity IEA--
GO:0042625ATPase 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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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, Sino Biological, 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 Oct 2013 via Entrez Gene).
About This Section

SuperPaths for ATP6V0E2 About   (see all 10)                                                                                              See pathways by source

SuperPathContained pathways About
1Insulin receptor recycling
Insulin receptor recycling0.79
Latent infection of Homo sapiens with Mycobacterium tuberculosis0.64
Transferrin endocytosis and recycling0.79
Phagosomal maturation (early endosomal stage)0.64
Iron uptake and transport0.69
Vibrio cholerae infection0.41
Collecting duct acid secretion0.68
Epithelial cell signaling in Helicobacter pylori infection0.33
2IRS-related events
Signaling by Insulin receptor0.79
3Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
Oxidative phosphorylation0.64
4Signaling by GPCR
Signal Transduction0.55
5SLC-mediated transmembrane transport
Transmembrane transport of small molecules0.50

Pathways by source                                                                                                                                                                 See SuperPaths
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


5/8         Kegg Pathways  (Kegg details for ATP6V0E2) (see all 8):
    Oxidative phosphorylation
Metabolic pathways
Phagosome
Synaptic vesicle cycle
Collecting duct acid secretion


ATP6V0E2 for pathways           About GeneDecksing

Interactions:

    Search SABiosciences Gene Network CentralTM 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)
InteractantInteraction Details
GeneCardExternal ID(s)
ATP6V0E1ENSP000002650934STRING: ENSP00000265093
ATP6V0A1ENSP000002646494STRING: ENSP00000264649
ATP6V0A2ENSP000003322474STRING: ENSP00000332247
ATP6V0A4ENSP000002538564STRING: ENSP00000253856
ATP6V0BENSP000002360674STRING: 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 IDQualified GO termEvidencePubMed IDs
GO:0006879cellular iron ion homeostasis TAS--
GO:0007035vacuolar acidification ISS--
GO:0008286insulin receptor signaling pathway TAS--
GO:0015991ATP hydrolysis coupled proton transport IEA--
GO:0016049cell growth IGI17350184

ATP6V0E2 for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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
CompoundAction CAS #
Bafilomycin A1H+-ATPase (vacuolar) inhibitor[88899-55-2]
Concanamycin AH+-ATPase (vacuolar) inhibitor[80890-47-7]
DisulfiramReversibly stimulates SERCA Ca2+-ATPase; displays a range of other activities[97-77-8]

4 HMDB Compounds for ATP6V0E2    About this table
CompoundSynonyms CAS #PubMed Ids
ADPadenosindiphosphorsaeure (see all 8)58-64-0--
Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
PhosphateNFB Orthophosphate (see all 13)14265-44-2--
WaterDihydrogen oxide (see all 2)7732-18-5--

3 Novoseek inferred 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 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, 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, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, 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.556998  [show with all ESTs]
Unigene Representative Sequence: AF452639
11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000421974(uc003wgo.1) ENST00000456496(uc003wgp.3 uc003wgr.3 uc003wgq.3)
ENST00000464683 ENST00000479613 ENST00000606024 ENST00000471877 ENST00000464662
ENST00000425642(uc003wgs.3) ENST00000483478 ENST00000495408 ENST00000490092

Congresses - knowledge worth sharing:  
European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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Additional mRNA sequence: 

AF452639.1 AK057700.1 AK094602.1 AK098362.1 AK172725.1 AK290086.1 AY037164.1 BC015899.1 
BX640846.1 DQ989009.1 DQ995344.1 

24/26 DOTS entries (see all 26):

DT.100840531  DT.101980276  DT.100882287  DT.121117244  DT.91783663  DT.95346780  DT.97847448  DT.315312 
DT.121117156  DT.97847449  DT.100882310  DT.100882312  DT.100882318  DT.100882315  DT.121117202  DT.97795467 
DT.100658267  DT.100770807  DT.100799130  DT.100882297  DT.100882306  DT.121117185  DT.121117231  DT.413460 

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

CB155555 AI688419 CR603296 CR603983 CR598486 CR603936 CR598722 AK098362 
CR604229 CR597900 CR604828 CR606342 CR618284 CR601578 BM924418 AI089847 
CB153164 CR625824 BQ067465 BI755299 CR591680 BQ898028 BM799524 BI753041 

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)      ATP6V0E2 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: CCAGTTCCTG
ATP6V0E2 Expression
About this image


ATP6V0E2 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database 
 5/7 selected tissues (see all 7) fully expand
 
 Brain (Nervous System)    fully expand to see all 11 entries
         Cerebral Cortex
         ganglion/cranial/facial VII   
 
 Eye (Sensory Organs)    fully expand to see all 2 entries
         Retina
 
 Neural Tube (Nervous System)    fully expand to see all 2 entries
         Metencephalon
 
 Spinal Cord (Nervous System)
         spinal/ganglion/dorsal root ganglion   
 
 Peripheral Nervous System (Nervous System)
         spinal/ganglion/dorsal root ganglion   

Genevestigator expression for ATP6V0E2

SOURCE GeneReport for Unigene cluster: Hs.556998

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

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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 7/13 species (see all 13)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Atp6v0e21 , 5 ATPase, H+ transporting, lysosomal V0 subunit E21, 5 90.53(n)1
98.77(a)1
  6 (23.52 cM)5
762521  NM_133764.31  NP_598525.11 
 485375695 
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
Uncharacterized protein
62(a)
1 ↔ 1
3(38352228-38354281)
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)
34(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
33(a)
1 → many
IV(9321799-9322528)


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)
About This Section
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, 4UniProtKB, 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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10/124 SNPs in ATP6V0E2 are shown (see all 124)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 7 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1168375701,2
C,F--149573081(+) CCTACA/GCCCAT 2 -- int11Minor allele frequency- G:0.03WA 118
rs1923247901,2
--149573102(+) CTCTCA/GAGATC 2 -- int10--------
rs1170511411,2
C,F--149573187(+) AGAGGC/TCAGAC 2 -- int12Minor allele frequency- T:0.05NA EA 240
rs1854607201,2
--149573204(+) GCTCAC/TGCCTG 2 -- int10--------
rs42810391,2
C,F,A--149573293(+) aactcC/Tgtctc 2 -- int16Minor allele frequency- T:0.50NA WA CSA 10
rs44693711,2
C,F,A--149573299(+) gtctcG/Tactaa 2 -- int14Minor allele frequency- T:0.50NA WA CSA 8
rs102435991,2
C--149573321(+) ttagcC/Taggcc 2 -- int10--------
rs42810401,2
C,F,A,H--149573340(+) cgtgcC/Ttgtag 2 -- int16Minor allele frequency- T:0.50NA WA CSA 10
rs42810411,2
C,F,A,H--149573456(+) tgagaC/Atccga 2 -- int110Minor allele frequency- A:0.47NA WA CSA EA 253
rs1907616311,2
--149573477(+) AGAACC/TACTAG 2 -- int10--------

HapMap Linkage Disequilibrium report for ATP6V0E2 (149570057 - 149577787 bp)

Structural Variations
     Database of Genomic Variants (DGV) 10/21 variations for ATP6V0E2 (see all 21):    About this table     
Variant IDTypeSubtypePubMed ID
esv1009171CNV Deletion20482838
esv2386076CNV Deletion18987734
esv2735338CNV Deletion23290073
esv2674829CNV Deletion23128226
esv4455CNV Deletion18987735
esv2735340CNV Deletion23290073
nsv521861CNV Loss19592680
nsv519323CNV Loss19592680
nsv889409CNV Loss21882294
dgv7532n71CNV Gain21882294

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
OMIM gene information: 611019    OMIM disorders: --

8 diseases for ATP6V0E2:    About MalaCards
osteopetrosis    influenza    cholera    rheumatoid arthritis
arthritis    melanoma    tuberculosis    neuronitis


ATP6V0E2 for disorders           About GeneDecksing

2 Novoseek inferred 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)

Genetic Association Database (GAD): ATP6V0E2

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)
About This Section

PubMed articles for ATP6V0E2 gene, integrated from 9 sources (see all 40):
(articles sorted by number of sources associating them with ATP6V0E2)
    Utopia: connect your pdf to the dynamic
world of online information

  1. 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)
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
  3. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
  4. 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)
  5. 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)
  6. The DNA sequence of human chromosome 7. (PubMed id 12853948)2 Hillier L.W.... Wilson R.K. (2003)
  7. 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)
  8. Toward a complete human genome sequence. (PubMed id 9847074)1 Wilson R. (1998)
  9. Receptor-mediated endocytosis: the intracellular jour ney of transferrin and its receptor. (PubMed id 2874839)1 Dautry-Varsat A. (1986)
  10. 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)
About This Section
 ANDOR
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)
About This Section
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)
About This Section
NameDescription
PharmGKB entry for ATP6V0E2 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for ATP6V0E2 gene:
Search GeneIP for patents involving ATP6V0E2

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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