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ATP6V0E2 Gene

protein-coding   GIFtS: 54
GCID: GC07P149570

ATPase, H+ Transporting V0 Subunit E2

(Previous names: chromosome 7 open reading frame 32, ATPase, H+ transporting...)
(Previous symbols: C7orf32, ATP6V0E2L)
  See ATP6V0E2-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000007.13  NT_007933.16  NC_018918.2  
Regulatory elements:
   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 Chromatin IP Primers for ATP6V0E2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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
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

REFSEQ proteins (3 alternative transcripts): 
NP_001094062.1  NP_001276919.1  NP_660265.2  

ENSEMBL proteins: 
 ENSP00000411672   ENSP00000410220   ENSP00000420012   ENSP00000417939   ENSP00000475904  
 ENSP00000420679   ENSP00000475645   ENSP00000396148  
Reactome Protein details: Q8NHE4

ATP6V0E2 Human Recombinant Protein Products:

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antibodies-online antibodies for ATP6V0E2 (4 products) 

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antibodies-online kits for ATP6V0E2 (11 products) 


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

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

2 InterPro protein domains:
 IPR017385 ATPase_V0-cplx_e1/e2_su_met
 IPR008389 ATPase_V0-cplx_e1/e2_su

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


Find genes that share domains with ATP6V0E2           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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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:    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--
     
Find genes that share ontologies with ATP6V0E2           About GenesLikeMe


Phenotypes:
     1 GenomeRNAi human phenotype for ATP6V0E2:
 Decreased influenza A virus in 

Animal Models:
   genOway: Develop your customized and physiologically relevant rodent model for ATP6V0E2

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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
VA0E2_HUMAN, Q8NHE4: Membrane; Multi-pass membrane protein (Potential)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
endosome4
plasma membrane2

Gene Ontology (GO): 4 cellular component terms:    About this table

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

Find genes that share ontologies with ATP6V0E2           About GenesLikeMe


(SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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SuperPaths for ATP6V0E2 About   (see all 10)  
See pathways by source

SuperPathContained pathways About
1Insulin receptor recycling
Insulin receptor recycling0.74
Collecting duct acid secretion0.66
Transferrin endocytosis and recycling0.74
Vibrio cholerae infection0.40
Iron uptake and transport0.70
Epithelial cell signaling in Helicobacter pylori infection0.32
2Insulin receptor signalling cascade
Signaling by Insulin receptor0.80
3Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
Oxidative phosphorylation0.64
4Signaling by GPCR
Signal Transduction0.58
5Synaptic vesicle cycle
Synaptic vesicle cycle0.50


Find genes that share SuperPaths with ATP6V0E2           About GenesLikeMe

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways



3 Reactome Pathways for ATP6V0E2
    Insulin receptor recycling
Phagosomal maturation (early endosomal stage)
Transferrin endocytosis and recycling


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

    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ATP6V0E2
Interactions:

    Search GeneGlobe Interaction Network for ATP6V0E2

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

Selected Interacting proteins for ATP6V0E2 (ENSP000004116724) via UniProtKB, MINT, STRING, and/or I2D (see all 57)
InteractantInteraction Details
GeneCardExternal ID(s)
ATP6V0BENSP000002360674STRING: ENSP00000236067
ATP6V0CENSP000003297574STRING: ENSP00000329757
ATP6V0E1ENSP000002650934STRING: ENSP00000265093
ATP6V1AENSP000002733984STRING: ENSP00000273398
ATP6V1B1ENSP000002343964STRING: ENSP00000234396
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Gene Ontology (GO): Selected biological process terms (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

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

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)



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(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,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for ATP6V0E2 gene (3 alternative transcripts): 
NM_001100592.2  NM_001289990.1  NM_145230.3  

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

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Inhib. RNA
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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 

Selected 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 

Selected AceView cDNA sequences (see all 375):

CR598486 CR606342 BQ072315 BI753041 CR603978 NM_145230 BM818605 CR623940 
CR607433 CR613139 BM924418 CR615323 CR597990 BI755299 CR592252 CR603296 
CF552941 BE858461 BM799524 AY037164 CR591680 BM722712 CD673048 CR614326 

GeneLoc Exon Structure

Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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ATP6V0E2 expression in normal human tissues (normalized intensities)
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
 selected tissues (see all 5) fully expand
 
 Brain (Nervous System)    fully expand to see all 3 entries
         Cerebral Cortex
 
 Neural Tube (Nervous System)    fully expand to see all 2 entries
         Metencephalon
 
 Gut Tube (Gastrointestinal Tract)
         Foregut
 
 Adipose (Muscoskeletal System)
         Visceral White Adipocytes Visceral White Adipose
 
 Thyroid (Endocrine System)
ATP6V0E2 Protein expression data from MOPED1, PaxDb2 and MaxQB3 --

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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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)
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This gene was present in the common ancestor of animals.

Orthologs for ATP6V0E2 gene from Selected 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  NM_001277387.1  NP_001264316.1 
lizard
(Anolis carolinensis)
Reptilia ATP6V0E26
ATPase, H+ transporting V0 subunit e2
64(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 3)
Vacuolar H[+] ATPase subunit M9.7-b
(see all 3)
35(a)
27(a)
(see all 3)
many ↔ many
many ↔ many
(see all 3)
3L(4262705-4263464)
3L(21532962-21534315)
worm
(Caenorhabditis elegans)
Secernentea vha-176
Protein VHA-17 (vha-17) mRNA, complete cds
31(a)
1 → many
IV(9321801-9322528) WBGene00009882


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

Find genes that share paralogs with ATP6V0E2           About GenesLikeMe



(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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for ATP6V0E2 (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) Selected 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

Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing ATP6V0E2
DNA2.0 Custom Variant and Variant Library Synthesis for ATP6V0E2

(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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OMIM gene information: 611019    OMIM disorders: --

1 disease for ATP6V0E2:    
About MalaCards
osteopetrosis


Find genes that share disorders with ATP6V0E2           About GenesLikeMe

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)
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PubMed articles for ATP6V0E2 gene, integrated from 10 sources (see all 41):
(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. (Gene 2007)
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
  3. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
  4. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (BMC Genomics 2007)
  5. Coupling of rotation and catalysis in F(1)-ATPase revealed by single-molecule imaging and manipulation. (PubMed id 17662945)1 Adachi K....Kinosita K. (Cell 2007)
  6. 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. (DNA Res. 2005)
  7. The DNA sequence of human chromosome 7. (PubMed id 12853948)2 Hillier L.W.... Wilson R.K. (Nature 2003)
  8. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)
  9. Toward a complete human genome sequence. (PubMed id 9847074)1 Sulston J.E. and Waterston R. (Genome Res. 1998)
  10. Receptor-mediated endocytosis: the intracellular journey of transferrin and its receptor. (PubMed id 2874839)1 Dautry-Varsat A. (Biochimie 1986)

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

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(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, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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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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