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

ATP6V1G2 Gene

protein-coding   GIFtS: 57
GCID: GC06M031512

ATPase, H+ Transporting, Lysosomal 13kDa, V1 Subunit G2

(Previous names: ATPase, H+ transporting, lysosomal (vacuolar proton pump),...)
(Previous symbols: ATP6G, ATP6G2)
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(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, Lysosomal 13kDa, V1 Subunit G21 2     VMA102
ATP6G1 2 3 5     H(+)-Transporting Two-Sector ATPase, Subunit G22
ATP6G21 2 3     V-Type Proton ATPase Subunit G 22
ATPase, H+ Transporting, Lysosomal (Vacuolar Proton Pump)1 2     Vacuolar ATP Synthase Subunit G 22
NG382 3     Vacuolar Proton Pump G Subunit 22
V-ATPase 13 KDa Subunit 22 3     V-ATPase Subunit G 23
ATPase, H+ Transporting, Lysosomal 13kDa, V1 Subunit G Isoform 21     Vacuolar Proton Pump Subunit G 23

External Ids:    HGNC: 8621   Entrez Gene: 5342   Ensembl: ENSG000002137607   OMIM: 6068535   UniProtKB: O956703   

Export aliases for ATP6V1G2 gene to outside databases

Previous GC identifers: GC06M031567 GC06M031552 GC06M031282 GC06M031604 GC06M031616 GC06M031606 GC06M031621 GC06M031609 GC06M031624 GC06M031498 GC06M031299


(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 ATP6V1G2 Gene:
This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of
intracellular compartments of eukaryotic cells. V-ATPase dependent acidification is necessary for such
intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic
vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain.
The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The
V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and
d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively
spliced transcript variants. This encoded protein is one of three V1 domain G subunit proteins. This gene had
previous gene symbols of ATP6G and ATP6G2. Alternatively spliced transcript variants encoding different isoforms
have been described. Read-through transcription also exists between this gene and the downstream DEAD
(Asp-Glu-Ala-Asp) box polypeptide 39B (DDX39B) gene. (provided by RefSeq, Feb 2011)

GeneCards Summary for ATP6V1G2 Gene: 
ATP6V1G2 (ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2) is a protein-coding gene. Diseases associated with ATP6V1G2 include osteopetrosis, and renal tubular acidosis, and among its related super-pathways are Insulin receptor recycling and Insulin receptor signalling cascade. GO annotations related to this gene include hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances. An important paralog of this gene is ATP6V1G2-DDX39B.

UniProtKB/Swiss-Prot: VATG2_HUMAN, O95670
Function: Catalytic subunit of the peripheral V1 complex of vacuolar ATPase (V-ATPase). V-ATPase is responsible
for acidifying a variety of intracellular compartments in eukaryotic cells

summary for ATP6V1G2 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.

Gene Wiki entry for ATP6V1G2 Gene


(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_000006.11  NC_018917.2  NT_007592.15  NT_113891.2  NT_167245.1  NT_167246.1  NT_167247.1  NT_167248.1  
NT_167249.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ATP6V1G2 gene promoter:
         c-Fos   AP-1   ATF-2   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidATP6V1G2 promoter sequence
   Search SABiosciences Chromatin IP Primers for ATP6V1G2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ATP6V1G2


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

Entrez Gene cytogenetic band: 6p21.3   Ensembl cytogenetic band:  6p21.33   HGNC cytogenetic band: 6p21.3

ATP6V1G2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATP6V1G2 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M031512:  view genomic region     (about GC identifiers)

Start:
31,512,228 bp from pter      End:
31,516,204 bp from pter
Size:
3,977 bases      Orientation:
minus strand

6 alternative locations:
Chr6-,NT_113891.2 3,021,887-3,024,280      Chr6-,NT_167249 2,843,033-2,845,430      Chr6-,NT_167246 2,855,124-2,857,517     
Chr6-,NT_167248 2,805,903-2,808,296      Chr6-,NT_167247 2,891,975-2,894,368      Chr6-,NT_167245 2,797,806-2,800,199     

(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: VATG2_HUMAN, O95670 (See protein sequence)
Recommended Name: V-type proton ATPase subunit G 2  
Size: 118 amino acids; 13604 Da
Subunit: V-ATPase is a heteromultimeric enzyme composed of a peripheral catalytic V1 complex (components A to H)
attached to an integral membrane V0 proton pore complex (components: a, c, c', c'' and d) (By similarity)
Subcellular location: Melanosome. Note=Highly enriched in late-stage melanosomes
Secondary accessions: B5MEF0 Q2L6F8 Q5HYU8 Q5RJ63
Alternative splicing: 3 isoforms:  O95670-1   O95670-2   O95670-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ATP6V1G2: NX_O95670

Explore proteomics data for ATP6V1G2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O95670

  • ATP6V1G2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ATP6V1G2 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001191007.1  NP_569730.1  NP_612139.1  

    ENSEMBL proteins: 
     ENSP00000365321   ENSP00000302194   ENSP00000419698   ENSP00000390148  
    Reactome Protein details: O95670
    Human Recombinant Protein Products for ATP6V1G2: 
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    Cloud-Clone Corp. Proteins for ATP6V1G2 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--
    GO:0016471vacuolar proton-transporting V-type ATPase complex IEA--
    GO:0030285integral to synaptic vesicle membrane IEA--
    GO:0042470melanosome IEA--

    ATP6V1G2 for ontologies           About GeneDecksing



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    (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: G2 
    V-type ATPase

    1 InterPro protein domain:
     IPR005124 V-ATPase_G

    Graphical View of Domain Structure for InterPro Entry O95670

    ProtoNet protein and cluster: O95670

    1 Blocks protein domain: IPB005124 Vacuolar (H+)-ATPase G subunit

    UniProtKB/Swiss-Prot: VATG2_HUMAN, O95670
    Similarity: Belongs to the V-ATPase G subunit family


    ATP6V1G2 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: VATG2_HUMAN, O95670
    Function: Catalytic subunit of the peripheral V1 complex of vacuolar ATPase (V-ATPase). V-ATPase is responsible
    for acidifying a variety of intracellular compartments in eukaryotic cells

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0008553hydrogen-exporting ATPase activity, phosphorylative mechanism IEA--
    GO:0016820hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances ----
    GO:0016887ATPase activity ----
         
    ATP6V1G2 for ontologies           About GeneDecksing


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    (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 ATP6V1G2 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 ATP6V1G2 (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 ATP6V1G2) (see all 8):
        Oxidative phosphorylation
    Metabolic pathways
    Phagosome
    Synaptic vesicle cycle
    Collecting duct acid secretion


    ATP6V1G2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ATP6V1G2

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    5/32 Interacting proteins for ATP6V1G2 (O956701, 2, 3 ENSP000003021944) via UniProtKB, MINT, STRING, and/or I2D (see all 32)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATP6V1E1P365431, 2, 3, ENSP000002534134EBI-348290,EBI-348639 MINT-62638 MINT-62736 MINT-62812 I2D: score=7 STRING: ENSP00000253413
    ATG10Q9H0Y03I2D: score=1 
    ATG14Q6ZNE53I2D: score=1 
    ATG4CQ96DT63I2D: score=1 
    ATG5Q9H1Y03I2D: score=1 
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006200ATP catabolic process ----
    GO:0006879cellular iron ion homeostasis TAS--
    GO:0008286insulin receptor signaling pathway TAS--
    GO:0015992proton transport ----
    GO:0033572transferrin transport TAS--

    ATP6V1G2 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
    EMD Millipore small molecules for ATP6V1G2:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for ATP6V1G2 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 ATP6V1G2    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--

    Search CenterWatch for drugs/clinical trials and news about ATP6V1G2 / VATG2

    (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 ATP6V1G2 gene (3 alternative transcripts): 
    NM_001204078.1  NM_130463.3  NM_138282.2  

    Unigene Cluster for ATP6V1G2:

    ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2
    Hs.249227  [show with all ESTs]
    Unigene Representative Sequence: NM_130463
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000376151 ENST00000303892(uc003ntz.3 uc003nua.3 uc021yur.1)
    ENST00000483251 ENST00000415099 ENST00000483170 ENST00000481998

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    Additional mRNA sequence: 

    BC047791.1 BC068023.1 BC119726.1 BC119727.1 

    9 DOTS entries:

    DT.100019994  DT.100019993  DT.100745549  DT.100707588  DT.432830  DT.100878266  DT.121310315  DT.86849562 
    DT.97777677 

    24/157 AceView cDNA sequences (see all 157):

    CR625065 AJ243199 CR618145 NM_080598 BC013006 C20601 CR596330 CR600093 
    F15252 CR590279 CR614717 BC004350 F15253 BX445405 CR612427 CR612476 
    AA230211 BC047791 CR601722 NM_130463 CR608752 AA836543 BE762931 CR591582 

    GeneLoc Exon Structure


    (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

    ATP6V1G2 expression in normal human tissues (normalized intensities)      ATP6V1G2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCCTTCCTTT
    ATP6V1G2 Expression
    About this image


    ATP6V1G2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/4 selected tissues (see all 4) fully expand
     
     Brain (Nervous System)    fully expand to see all 17 entries
             Thalamus
             Globus Pallidus   
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Telencephalon
     
     Neuron (Nervous System)
             Human Neurons   
     
     Spinal Cord (Nervous System)

     -- (Nervous System)
             mouse/organ system/nervous system/central nervous system   

    See ATP6V1G2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ATP6V1G2

    SOURCE GeneReport for Unigene cluster: Hs.249227

    UniProtKB/Swiss-Prot: VATG2_HUMAN, O95670
    Tissue specificity: Brain

        SABiosciences Expression via Pathway-Focused PCR Arrays including ATP6V1G2: 
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              Molecular Toxicology PathwayFinder 384HT in human mouse rat
              Cell Death PathwayFinder in human mouse rat

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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 and fungi.

    Orthologs for ATP6V1G2 gene from 5/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Atp6v1g21 , 5 ATPase, H+ transporting, lysosomal V1 subunit G21, 5 90.03(n)1
    95.73(a)1
      17 (18.60 cM)5
    662371  NM_023179.31  NP_075668.11 
     352336605 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    76(a)
    1 → many
    2(194088046-194091177)
    fruit fly
    (Drosophila melanogaster)
    Insecta Vha131 Vacuolar H[+] ATPase G-subunit 58.19(n)
    49.12(a)
      42341  NM_058089.4  NP_477437.1 
    worm
    (Caenorhabditis elegans)
    Secernentea vha-106
    Probable V-type proton ATPase subunit G
    44(a)
    1 → many
    I(5609310-5610276)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes VMA106
    Subunit G of the eight-subunit V1 peripheral membr...
    31(a)
    1 → many
    VIII(187173-187679)


    ENSEMBL Gene Tree for ATP6V1G2 (if available)
    TreeFam Gene Tree for ATP6V1G2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ATP6V1G2 gene
    ATP6V1G2-DDX39B2  ATP6V1G32  ATP6V1G12  
    3 SIMAP similar genes for ATP6V1G2 using alignment to 3 protein entries:     VATG2_HUMAN (see all proteins):
    ATP6V1G2-DDX39B    ATP6V1G1    ATP6V1G3

    ATP6V1G2 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)
    About This Section
    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for ATP6V1G2:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv830627CNV Loss17160897
    nsv470809CNV Loss18288195
    esv690CNV CNV17122850
    essv13266CNV CNV17122850

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 606853    OMIM disorders: --

    12 diseases for ATP6V1G2:    About MalaCards
    osteopetrosis    renal tubular acidosis    chronic venous leg ulcers    dilated cardiomyopathy
    cholera    systemic lupus erythematosus    hepatitis c    lupus erythematosus
    rheumatoid arthritis    arthritis    hepatitis    tuberculosis


    ATP6V1G2 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): ATP6V1G2
    Human Genome Epidemiology (HuGE) Navigator: ATP6V1G2 (8 documents)

    Export disorders for ATP6V1G2 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 ATP6V1G2 gene, integrated from 9 sources (see all 32):
    (articles sorted by number of sources associating them with ATP6V1G2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A new member of the Ig superfamily and a V-ATPase G subunit are among the predicted products of novel genes close to the TNF locus in the human MHC. (PubMed id 10202016)1, 2, 3 Neville M.J. and Campbell R.D. (1999)
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    3. Characterization of tumor necrosis factor-I+ block hap lotypes associated with susceptibility to chronic venous leg ulcers in Caucasia n patients. (PubMed id 20854863)1, 4 Tan J.H....Wallace H.J. (2010)
    4. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    5. High-density SNP screening of the major histocompatib ility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions. (PubMed id 19851445)1, 4 Barcellos L.F....Criswell L.A. (2009)
    6. Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes. (PubMed id 17081065)1, 2 Chi A....Hunt D.F. (2006)
    7. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (2003)
    8. Molecular cloning and characterization of novel tissue-specific isoforms of the human vacuolar H(+)-ATPase C, G and d subunits, and their evaluation in autosomal recessive distal renal tubular acidosis. (PubMed id 12384298)1, 2 Smith A.N.... Karet F.E. (2002)
    9. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    10. Genome-wide association study identifies variants in the MHC class I, IL10, and IL23R-IL12RB2 regions associated with BehAset's disea se. (PubMed id 20622878)4 Remmers E.F....GA1l A. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
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    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)
    About This Section
    Entrez Gene: 534 HGNC: 862 AceView: BAT1andATP6V1G2 Ensembl:ENSG00000213760 euGenes: HUgn534
    ECgene: ATP6V1G2 Kegg: 534 H-InvDB: ATP6V1G2

    (According to HUGE)
    About This Section
      --

    (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 ATP6V1G2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ATP6V1G2 gene:
    Search GeneIP for patents involving ATP6V1G2

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



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    About This Section

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