Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ATP6V1G2 Gene

Aliases for ATP6V1G2 Gene

  • ATPase H+ Transporting V1 Subunit G2 2 3 5
  • ATPase, H+ Transporting, Lysosomal (Vacuolar Proton Pump) 2 3
  • ATPase, H+ Transporting, Lysosomal 13kDa, V1 Subunit G2 2 3
  • V-ATPase 13 KDa Subunit 2 3 4
  • ATP6G2 3 4
  • ATP6G 3 4
  • NG38 3 4
  • ATPase, H+ Transporting, Lysosomal 13kDa, V1 Subunit G Isoform 2 2
  • H(+)-Transporting Two-Sector ATPase, Subunit G2 3
  • Vacuolar ATP Synthase Subunit G 2 3
  • V-Type Proton ATPase Subunit G 2 3
  • Vacuolar Proton Pump G Subunit 2 3
  • Vacuolar Proton Pump Subunit G 2 4
  • V-ATPase Subunit G 2 4
  • Vma10 3

External Ids for ATP6V1G2 Gene

Previous HGNC Symbols for ATP6V1G2 Gene

  • ATP6G
  • ATP6G2

Previous GeneCards Identifiers for ATP6V1G2 Gene

  • GC06M031567
  • GC06M031552
  • GC06M031282
  • GC06M031604
  • GC06M031616
  • GC06M031606
  • GC06M031621
  • GC06M031609
  • GC06M031624
  • GC06M031498
  • GC06M031299
  • GC06M031512
  • GC06M031569
  • GC06M031586
  • GC06M031706
  • GC06M031717

Summaries for ATP6V1G2 Gene

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 V1 Subunit G2) is a Protein Coding gene. Among its related pathways are Ion channel transport and Immune System. GO annotations related to this gene include ATPase activity and hydrogen-exporting ATPase activity, phosphorylative mechanism. An important paralog of this gene is ATP6V1G1.

UniProtKB/Swiss-Prot for ATP6V1G2 Gene

  • 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.

Tocris 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 and endosomes.

Gene Wiki entry for ATP6V1G2 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATP6V1G2 Gene

Genomics for ATP6V1G2 Gene

Regulatory Elements for ATP6V1G2 Gene

Enhancers for ATP6V1G2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06F031556 0.9 FANTOM5 Ensembl ENCODE 31 -11.7 -11706 8.3 HDGF PKNOX1 ARNT WRNIP1 ZNF2 ZNF207 FOS KLF13 ZNF263 PAF1 TNF ATP6V1G2 MICB CSNK2B DDX39B LST1 NCR3 UQCRHP1 AIF1 LTB
GH06F031538 0.6 ENCODE 23.6 +7.3 7289 4.9 CREB3L1 MLX ZFP64 FEZF1 DMAP1 YY1 ZNF263 MCM3 SP3 TBX21 DDX39B LY6G5B ATF6B DHX16 PPP1R10 LSM2 SKIV2L RPL3P2 TCF19 ABCF1
GH06F031493 0.5 ENCODE 15.6 +52.5 52477 5.2 PKNOX1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 ZNF207 DDX39B MICB LY6G5B ATF6B ABCF1 ATP6V1G2 DHX16 LSM2 PPP1R10 C4B
GH06F031567 1.3 FANTOM5 Ensembl ENCODE 13.1 -29.8 -29844 22.5 MLX CREB3L1 ZFP64 FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF143 ZNF548 DDX39B TNF LY6G5B DHX16 ATF6B LSM2 MICA TCF19 C6orf47 PPT2
GH06F031591 1.1 Ensembl ENCODE 12.9 -44.7 -44655 2.3 HDGF ZNF143 KLF13 ZNF263 PAF1 MCM3 JUNB TBX21 SMARCA4 MYNN DDX39B ATP6V1G2 LOC101929072 ENSG00000271581 LST1 MICB HLA-C SKIV2L NCR3 UQCRHP1
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around ATP6V1G2 on UCSC Golden Path with GeneCards custom track

Promoters for ATP6V1G2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000487857 1326 2200 HDGF PKNOX1 ARNT CREB3L1 MLX WRNIP1 ARID4B SIN3A FEZF1 DMAP1

Genomic Location for ATP6V1G2 Gene

Chromosome:
6
Start:
31,544,451 bp from pter
End:
31,548,427 bp from pter
Size:
3,977 bases
Orientation:
Minus strand

Genomic View for ATP6V1G2 Gene

Genes around ATP6V1G2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP6V1G2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATP6V1G2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

Proteins for ATP6V1G2 Gene

  • Protein details for ATP6V1G2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95670-VATG2_HUMAN
    Recommended name:
    V-type proton ATPase subunit G 2
    Protein Accession:
    O95670
    Secondary Accessions:
    • B5MEF0
    • Q2L6F8
    • Q5HYU8
    • Q5RJ63

    Protein attributes for ATP6V1G2 Gene

    Size:
    118 amino acids
    Molecular mass:
    13604 Da
    Quaternary structure:
    • 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).

    Alternative splice isoforms for ATP6V1G2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATP6V1G2 Gene

Post-translational modifications for ATP6V1G2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ATP6V1G2 Gene

No data available for DME Specific Peptides for ATP6V1G2 Gene

Domains & Families for ATP6V1G2 Gene

Gene Families for ATP6V1G2 Gene

HGNC:
IUPHAR :

Protein Domains for ATP6V1G2 Gene

Suggested Antigen Peptide Sequences for ATP6V1G2 Gene

Graphical View of Domain Structure for InterPro Entry

O95670

UniProtKB/Swiss-Prot:

VATG2_HUMAN :
  • Belongs to the V-ATPase G subunit family.
Family:
  • Belongs to the V-ATPase G subunit family.
genes like me logo Genes that share domains with ATP6V1G2: view

Function for ATP6V1G2 Gene

Molecular function for ATP6V1G2 Gene

UniProtKB/Swiss-Prot 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) - Molecular Function for ATP6V1G2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016820 hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances IEA --
genes like me logo Genes that share ontologies with ATP6V1G2: view
genes like me logo Genes that share phenotypes with ATP6V1G2: view

Animal Models for ATP6V1G2 Gene

MGI Knock Outs for ATP6V1G2:

Animal Model Products

miRNA for ATP6V1G2 Gene

miRTarBase miRNAs that target ATP6V1G2

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ATP6V1G2 Gene

Localization for ATP6V1G2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATP6V1G2 Gene

Melanosome. Note=Highly enriched in late-stage melanosomes.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ATP6V1G2 Gene COMPARTMENTS Subcellular localization image for ATP6V1G2 gene
Compartment Confidence
nucleus 3
cytosol 2

Gene Ontology (GO) - Cellular Components for ATP6V1G2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0016471 vacuolar proton-transporting V-type ATPase complex IEA --
GO:0042470 melanosome IEA --
genes like me logo Genes that share ontologies with ATP6V1G2: view

Pathways & Interactions for ATP6V1G2 Gene

genes like me logo Genes that share pathways with ATP6V1G2: view

Gene Ontology (GO) - Biological Process for ATP6V1G2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0008286 insulin receptor signaling pathway TAS --
GO:0015992 proton transport IEA --
GO:0016241 regulation of macroautophagy NAS 22982048
genes like me logo Genes that share ontologies with ATP6V1G2: view

No data available for SIGNOR curated interactions for ATP6V1G2 Gene

Drugs & Compounds for ATP6V1G2 Gene

(5) Drugs for ATP6V1G2 Gene - From: HMDB and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
Adenosine triphosphate Approved Nutra 0
Disulfiram Approved Pharma Reversibly stimulates SERCA Ca2+-ATPase; displays a range of other activities 35
Bafilomycin A1 Experimental Pharma V-ATPase inhibitor,selective and reversible, H+-ATPase (vacuolar) inhibitor 0
Concanamycin A Pharma V-type (vacuolar) H+-ATPase inhibitor, H+-ATPase (vacuolar) inhibitor 0

(2) Additional Compounds for ATP6V1G2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2

(3) Tocris Compounds for ATP6V1G2 Gene

Compound Action Cas Number
Bafilomycin A1 H+-ATPase (vacuolar) inhibitor 88899-55-2
Concanamycin A H+-ATPase (vacuolar) inhibitor 80890-47-7
Disulfiram Reversibly stimulates SERCA Ca2+-ATPase; displays a range of other activities 97-77-8
genes like me logo Genes that share compounds with ATP6V1G2: view

Transcripts for ATP6V1G2 Gene

Unigene Clusters for ATP6V1G2 Gene

ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ATP6V1G2 Gene

No ASD Table

Relevant External Links for ATP6V1G2 Gene

GeneLoc Exon Structure for
ATP6V1G2
ECgene alternative splicing isoforms for
ATP6V1G2

Expression for ATP6V1G2 Gene

mRNA expression in normal human tissues for ATP6V1G2 Gene

Protein differential expression in normal tissues from HIPED for ATP6V1G2 Gene

This gene is overexpressed in Frontal cortex (50.9) and Retina (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ATP6V1G2 Gene



Protein tissue co-expression partners for ATP6V1G2 Gene

NURSA nuclear receptor signaling pathways regulating expression of ATP6V1G2 Gene:

ATP6V1G2

SOURCE GeneReport for Unigene cluster for ATP6V1G2 Gene:

Hs.249227

mRNA Expression by UniProt/SwissProt for ATP6V1G2 Gene:

O95670-VATG2_HUMAN
Tissue specificity: Brain.
genes like me logo Genes that share expression patterns with ATP6V1G2: view

Primer Products

No data available for mRNA differential expression in normal tissues for ATP6V1G2 Gene

Orthologs for ATP6V1G2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ATP6V1G2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ATP6V1G2 34 35
  • 99.15 (n)
dog
(Canis familiaris)
Mammalia ATP6V1G1 35
  • 97 (a)
OneToOne
ATP6V1G2 34
  • 94.02 (n)
cow
(Bos Taurus)
Mammalia ATP6V1G2 34 35
  • 93.5 (n)
rat
(Rattus norvegicus)
Mammalia Atp6v1g2 34
  • 92.02 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 91 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Atp6v1g2 34 16 35
  • 90.03 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 76 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia atp6v1g2 34
  • 66.1 (n)
fruit fly
(Drosophila melanogaster)
Insecta Vha13 34 35
  • 58.19 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001823 34
  • 55.65 (n)
worm
(Caenorhabditis elegans)
Secernentea vha-10 35
  • 44 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VMA10 35
  • 31 (a)
OneToMany
Species where no ortholog for ATP6V1G2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • zebrafish (Danio rerio)

Evolution for ATP6V1G2 Gene

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

Paralogs for ATP6V1G2 Gene

Paralogs for ATP6V1G2 Gene

(3) SIMAP similar genes for ATP6V1G2 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with ATP6V1G2: view

Variants for ATP6V1G2 Gene

Sequence variations from dbSNP and Humsavar for ATP6V1G2 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs10675206 -- 31,544,391(+) AAAAA(-/AA)CAAAG intron-variant, downstream-variant-500B, upstream-variant-2KB
rs111563849 -- 31,547,942(+) TTACA(C/T)TAAAA intron-variant, downstream-variant-500B, upstream-variant-2KB
rs111874448 -- 31,544,346(+) GATCA(C/T)GCCAT intron-variant, downstream-variant-500B, upstream-variant-2KB
rs111989884 -- 31,548,681(+) TAGCT(A/G)CTTTG intron-variant, upstream-variant-2KB
rs114066913 -- 31,546,281(+) CAGTC(A/C)CTTCC intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for ATP6V1G2 Gene

Variant ID Type Subtype PubMed ID
dgv10403n54 CNV loss 21841781
dgv10404n54 CNV loss 21841781
esv2759414 CNV gain+loss 17122850
nsv1073969 CNV deletion 25765185
nsv1112900 CNV deletion 24896259
nsv1126749 CNV deletion 24896259
nsv470809 CNV loss 18288195
nsv830627 CNV loss 17160897

Variation tolerance for ATP6V1G2 Gene

Residual Variation Intolerance Score: 51.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.42; 9.21% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ATP6V1G2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATP6V1G2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP6V1G2 Gene

Disorders for ATP6V1G2 Gene

Relevant External Links for ATP6V1G2

Genetic Association Database (GAD)
ATP6V1G2
Human Genome Epidemiology (HuGE) Navigator
ATP6V1G2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ATP6V1G2

No disorders were found for ATP6V1G2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ATP6V1G2 Gene

Publications for ATP6V1G2 Gene

  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. (PMID: 10202016) Neville M.J. … Campbell R.D. (J. Immunol. 1999) 2 3 4 64
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  4. Characterization of tumor necrosis factor-I+ block haplotypes associated with susceptibility to chronic venous leg ulcers in Caucasian patients. (PMID: 20854863) Tan J.H. … Wallace H.J. (Hum. Immunol. 2010) 3 46 64
  5. High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions. (PMID: 19851445) Barcellos L.F. … Criswell L.A. (PLoS Genet. 2009) 3 46 64

Products for ATP6V1G2 Gene

Sources for ATP6V1G2 Gene

Content
Loading form....