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

ATP6V1G2 Gene

protein-coding   GIFtS: 55
GCID: GC06M031512

ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2

(Previous names: ATPase, H+ transporting, lysosomal (vacuolar proton pump),...)
(Previous symbols: ATP6G, ATP6G2)
 Explore 13 diseases affiliated with
ATP6V1G2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for ATP6V1G2    

Aliases
for ATP6V1G2 gene

(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, Lysosomal 13kDa, V1 Subunit G21 2     ATPase, H+ Transporting, Lysosomal 13kDa, V1 Subunit G Isoform 21
ATP6G1 2 3 5     VMA102
ATP6G21 2 3     H(+)-Transporting Two-Sector ATPase, Subunit G22
NG381 2 3     V-Type Proton ATPase Subunit G 22
ATPase, H+ Transporting, Lysosomal (Vacuolar Proton Pump)1 2     Vacuolar ATP Synthase Subunit G 22
V-ATPase 13 KDa Subunit 22 3     Vacuolar Proton Pump G Subunit 22
Em:AC004181.31     V-ATPase Subunit G 23
Vma101     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


Summaries
for ATP6V1G2 gene

(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:
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)

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:
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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.1  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 plasmid: ATP6V1G2 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:
 31,512,239 bp from pter      End:
 31,516,204 bp from pter
Size:
 3,966 bases      Orientation:
 minus strand

6 alternative locations:
Chr6-,ALT_REF_LOCI_5 31,503,409-31,505,793      Chr6-,ALT_REF_LOCI_6 31,502,517-31,540,482      Chr6-,ALT_REF_LOCI_4 31,474,794-31,477,178     
Chr6-,ALT_REF_LOCI_3 31,494,420-31,507,842      Chr6-,ALT_REF_LOCI_2 31,499,694-31,541,266      Chr6-,ALT_REF_LOCI_7 31,432,509-31,434,897     

Proteins
for ATP6V1G2 gene

(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: 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: Q2L6F8 Q5HYU8 Q5RJ63
Alternative splicing: 2 isoforms:  O95670-1   O95670-2   (No experimental confirmation available)

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O95670

    • ATP6V1G2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000419866   ENSP00000365321   ENSP00000302194   ENSP00000419698   ENSP00000390148  
    Reactome Protein details: O95670
    Human Recombinant Protein Products: 
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    Novus Biologicals ATP6V1G2 Proteins
    Novus Biologicals ATP6V1G2 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for ATP6V1G2

    Gene Ontology (GO): 3 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:0042470melanosome IEA--


    ATP6V1G2 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for ATP6V1G2

    Protein Domains /
    Families
    for ATP6V1G2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ATP6V1G2 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR005124 V-ATPase_G

    Graphical View of Domain Structure for InterPro Entry O95670

    ProtoNet protein and cluster: O95670

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

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


    Function
    for ATP6V1G2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmid: ATP6V1G2 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016820hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances IEA--


    ATP6V1G2 for ontologies           About GeneDecksing



    Pathways & Interactions
    for ATP6V1G2 gene

    (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-pathwaycontained gene-specific pathways
    1Insulin receptor recycling
    		Insulin receptor recycling1.00
    		Latent infection of Homo sapiens with Mycobacterium tuberculosis0.64
    		Transferrin endocytosis and recycling0.79
    		Iron uptake and transport0.56
    		Collecting duct acid secretion0.68
    		Vibrio cholerae infection0.41
    		Phagosomal maturation (early endosomal stage)0.64
    		Epithelial cell signaling in Helicobacter pylori infection0.33
    2Disease
    		Disease1.00
    3Rheumatoid arthritis
    		Rheumatoid arthritis1.00
    4Phagosome
    		Phagosome1.00
    5IRS-related events
    		Signaling by Insulin receptor0.74

    Pathway sources
    See GeneCards unified pathways
    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


    5/7         Kegg Pathways  (Kegg details for ATP6V1G2) (see all 7):
        Oxidative phosphorylation
    Metabolic pathways
    Phagosome
    Collecting duct acid secretion
    Vibrio cholerae infection


    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): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006879cellular iron ion homeostasis TAS--
    GO:0008286insulin receptor signaling pathway TAS--
    GO:0015992proton transport IEA--
    GO:0033572transferrin transport TAS--
    GO:0051701interaction with host TAS--


    ATP6V1G2 for ontologies           About GeneDecksing



    Drugs & Compounds
    for ATP6V1G2 gene

    (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
    EMD Millipore small molecules for ATP6V1G2:
    Small Molecule - inhibitor
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    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]

    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 

    Transcripts
    for ATP6V1G2 gene

    (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, 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 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
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000459671 ENST00000376151 ENST00000303892(uc003ntz.3 uc003nua.3 uc021yur.1)
    ENST00000483251 ENST00000415099 ENST00000483170 ENST00000481998

    miRNA
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    hsa-miR-145* hsa-miR-330-5p hsa-miR-2110 hsa-miR-326 hsa-miR-3133
    SwitchGear 3'UTR luciferase reporter plasmid: ATP6V1G2 3' UTR sequence
    Inhib. RNA
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    Clone
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    Primer
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    Additional cDNA 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 CR623314 AJ243199 BC013006 CR618145 NM_080598 C20601 CR596330 
    CR600093 BC047791 AA230211 CR601722 NM_130463 AA836543 CR608752 BE762931 
    F15252 CR591582 CR590279 BC000361 CR614717 CR606599 NM_138282 BX445405 

    GeneLoc Exon Structure


    Expression
    for ATP6V1G2 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CCCTTCCTTT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    ATP6V1G2 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 
    NameCategory
    PureStem™ mesenchymal Progenitor SK11 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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: 
              Necrosis in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat
              Cell Death PathwayFinder in human mouse rat

    Primer
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATP6V1G2

    Orthologs
    for ATP6V1G2 gene

    (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 eukaryotes.

    Orthologs for ATP6V1G2 gene from 5/22 species (see all 22)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    lizard
    (Anolis carolinensis)    		 Reptilia --
    		 --
    		 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
    		 46(a)
    		 1 → many
    		 I(5609313-5610279)
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons VHA-G26
    VMA106
    (see all 3)    		 V-type proton ATPase subunit G1
    (see all 3)    		 37(a)
    34(a)
    (see all 3)    		 many ↔ many
    many ↔ many
    (see all 3)    		 4(12350089-12351624)
    3(149999-151539)
    rice
    (Oryza sativa)    		 Liliopsida --
    --
    		 vacuolar ATPase G subunit, putative, expressed
    		 35(a)
    13(a)
    		 many ↔ many
    many ↔ many
    		 4(30189558-30191962)
    2(28892221-28894993)


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

    Paralogs
    for ATP6V1G2 gene

    (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 6 protein entries:     VATG2_HUMAN (see all proteins):
    ATP6V1G2-DDX39B    ATP6V1G1    ATP6V1G3

    ATP6V1G2 for paralogs           About GeneDecksing



    Genomic Variants
    for ATP6V1G2 gene

    (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)
    About This Section

    10/118 NCBI SNPs in ATP6V1G2 are shown (see all 118)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 6 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs455293391,2
    		C,F,--31299678(+) TATTAC/TAAATT 2 -- us2k11Minor allele frequency- T:0.06NA 120
    rs733962201,2
    		C,--31300117(+) GGAGAG/AGGGTG 4 -- us2k11Minor allele frequency- A:0.50WA 2
    rs25163891,2
    		C,H--31300935(-) GGACAG/ACAAAC 4 -- us2k14Minor allele frequency- A:0.00NS EA 418
    rs455395311,2
    		--31301141(+) CCACCA/GCTTAC 4 -- us2k10--------
    rs25163881,2
    		C,H--31301224(-) TCGGTG/ACAGGA 4 -- us2k14Minor allele frequency- A:0.00NS EA 418
    rs25163871,2
    		C,H--31301254(-) TCAATA/GGGAGG 4 -- us2k14Minor allele frequency- G:0.00NS EA 420
    rs168997721,2
    		C--31301318(+) CCTGGG/AAGCAG 4 -- us2k12Minor allele frequency- A:0.00MN EA 376
    rs623957671,2
    		C,--31301354(+) CTTACA/C/GACAGG 4 -- us2k11CSA 2
    rs1147627631,2
    		C,F,--31301524(+) GAAAAG/CAGCAT 4 -- us2k1 int11Minor allele frequency- C:0.20WA 118
    rs32191861,2
    		C,--31301711(-) AAAAA-/AGAAAA 4 -- us2k1 int13Minor allele frequency- A:0.07MN EA NA 358

    HapMap Linkage Disequilibrium report for ATP6V1G2 (31512239 - 31516204 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for ATP6V1G2
         1 CNV: 2625

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    Disorders / Diseases
    for ATP6V1G2 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    ATP6V1G2 for disorders           About GeneDecksing

    OMIM gene information: 606853    OMIM disorders: --

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

    Human Genome Epidemiology (HuGE) Navigator: ATP6V1G2 (8 documents)

    Export disorders for ATP6V1G2 gene to outside databases

    Publications
    for ATP6V1G2 gene

    (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 29):
    (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. Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes. (PubMed id 17081065)1, 2 Chi A....Hunt D.F. (2006)
    3. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (2003)
    4. 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)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    6. 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 Tan J.H....Wallace H.J. (2010)
    7. 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 Bailey S.D....Anand S. (2010)
    8. Gene-centric association signals for lipids and apoli poproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)1 Talmud P.J.... . (2009)
    9. 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 Barcellos L.F....Criswell L.A. (2009)
    10. 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)

    External Searches for ATP6V1G2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
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    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing ATP6V1G2 gene

    (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

    Other Databases showing ATP6V1G2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing ATP6V1G2 gene

    (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

    Intellectual Property
    for ATP6V1G2 gene

    (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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