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 compose... See more...

Aliases for ATP6V1G2 Gene

Aliases for ATP6V1G2 Gene

  • ATPase H+ Transporting V1 Subunit G2 2 3 5
  • NG38 2 3 4
  • ATPase, H+ Transporting, Lysosomal (Vacuolar Proton Pump) 2 3
  • ATPase, H+ Transporting, Lysosomal 13kDa, V1 Subunit G2 2 3
  • V-Type Proton ATPase Subunit G 2 3 4
  • V-ATPase 13 KDa Subunit 2 3 4
  • ATP6G2 3 4
  • ATP6G 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
  • Vacuolar Proton Pump G Subunit 2 3
  • Vacuolar Proton Pump Subunit G 2 4
  • V-ATPase Subunit G 2 4
  • Em:AC004181.3 2
  • ATP6V1G2 5
  • VMA10 3
  • Vma10 2

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
  • GC06M032056
  • GC06M032121
  • GC06M031573
  • GC06M032361
  • GC06M031706
  • GC06M031717
  • GC06M031763
  • GC06M031814
  • GC06M031864
  • GC06M031910
  • GC06M031962
  • GC06M032005
  • GC06M032587
  • GC06M033022

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. Diseases associated with ATP6V1G2 include Autosomal Recessive Distal Renal Tubular Acidosis and Sorsby Fundus Dystrophy. Among its related pathways are Insulin receptor recycling and Rheumatoid arthritis. Gene Ontology (GO) annotations related to this gene include ATPase activity and proton-exporting ATPase activity, phosphorylative mechanism. An important paralog of this gene is ATP6V1G1.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ATP6V1G2 Gene

Genomics for ATP6V1G2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ATP6V1G2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ATP6V1G2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ATP6V1G2

Top Transcription factor binding sites by QIAGEN in the ATP6V1G2 gene promoter:
  • AP-1
  • ATF-2
  • c-Fos
  • c-Jun

Genomic Locations for ATP6V1G2 Gene

Latest Assembly
chr6:31,544,444-31,548,427
(GRCh38/hg38)
Size:
3,984 bases
Orientation:
Minus strand

Previous Assembly
chr6:31,512,221-31,514,519
(GRCh37/hg19 by Entrez Gene)
Size:
2,299 bases
Orientation:
Minus strand

chr6:31,512,239-31,516,204
(GRCh37/hg19 by Ensembl)
Size:
3,966 bases
Orientation:
Minus strand

Alternative Locations (GRCh38/hg38)

  • chr6(ALT_REF_LOCI_2):3,021,774-3,024,068 (-)
  • chr6(ALT_REF_LOCI_3):2,792,214-2,794,508 (-)
  • chr6(ALT_REF_LOCI_4):2,849,497-2,851,791 (-)
  • chr6(ALT_REF_LOCI_5):2,886,383-2,888,677 (-)
  • chr6(ALT_REF_LOCI_6):2,800,300-2,802,594 (-)
  • chr6(ALT_REF_LOCI_7):2,843,728-2,846,026 (-)

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 :
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ATP6V1G2 Gene

InterPro:
Blocks:
  • Vacuolar (H+)-ATPase G subunit

Suggested Antigen Peptide Sequences for ATP6V1G2 Gene

GenScript: Design optimal peptide antigens:
  • HCG2043423, isoform CRA_c (Q2L6F8_HUMAN)
  • ATP6V1G2 protein (Q6NVJ2_HUMAN)
  • Vacuolar proton pump subunit G 2 (VATG2_HUMAN)

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.

Phenotypes From GWAS Catalog for ATP6V1G2 Gene

Gene Ontology (GO) - Molecular Function for ATP6V1G2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 32296183
GO:0042626 ATPase activity, coupled to 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:

miRNA for ATP6V1G2 Gene

miRTarBase miRNAs that target ATP6V1G2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP6V1G2

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ATP6V1G2 gene
Compartment Confidence
cytosol 4
nucleus 3
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1

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,IBA 21873635
GO:0042470 melanosome IEA --
genes like me logo Genes that share ontologies with ATP6V1G2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ATP6V1G2 Gene

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:0006811 ion transport IEA --
GO:0008286 insulin receptor signaling pathway TAS --
GO:0016241 regulation of macroautophagy NAS 22982048
GO:0033572 transferrin transport TAS --
GO:0034220 ion transmembrane transport TAS --
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

(6) Drugs for ATP6V1G2 Gene - From: DrugBank, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
tiludronate Approved, Investigational, Vet_approved Pharma Target, inhibitor 2
Water Approved Pharma 0
Phosphate Experimental Pharma 0
Bafilomycin A1 Experimental Pharma V-ATPase inhibitor,selective and reversible, H+-ATPase (vacuolar) inhibitor 0
Concanamycin A Experimental Pharma V-type (vacuolar) H+-ATPase inhibitor, H+-ATPase (vacuolar) inhibitor 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
58-64-0

(2) 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
genes like me logo Genes that share compounds with ATP6V1G2: view

Transcripts for ATP6V1G2 Gene

mRNA/cDNA for ATP6V1G2 Gene

3 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP6V1G2

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

No ASD Table

Relevant External Links for ATP6V1G2 Gene

GeneLoc Exon Structure for
ATP6V1G2

Expression for ATP6V1G2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 and MOPED for ATP6V1G2 Gene



Protein tissue co-expression partners for ATP6V1G2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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.

Evidence on tissue expression from TISSUES for ATP6V1G2 Gene

  • Nervous system(4.6)
  • Blood(4.3)
  • Muscle(2.5)
  • Kidney(2.5)
  • Heart(2.4)
  • Intestine(2.2)
  • Liver(2.1)
genes like me logo Genes that share expression patterns with ATP6V1G2: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 29 30
  • 99.15 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ATP6V1G1 30
  • 97 (a)
OneToOne
ATP6V1G2 29
  • 94.02 (n)
Cow
(Bos Taurus)
Mammalia ATP6V1G2 29 30
  • 93.5 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Atp6v1g2 29
  • 92.02 (n)
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 91 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Atp6v1g2 29 16 30
  • 90.03 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 76 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia atp6v1g2 29
  • 66.1 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Vha13 29 30
  • 58.19 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001823 29
  • 55.65 (n)
Worm
(Caenorhabditis elegans)
Secernentea vha-10 30
  • 44 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VMA10 30
  • 31 (a)
OneToMany
Species where no ortholog for ATP6V1G2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for ATP6V1G2: view image
Alliance of Genome Resources:
Additional Orthologs for ATP6V1G2

Paralogs for ATP6V1G2 Gene

Paralogs for ATP6V1G2 Gene

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

  • VATG2_HUMAN
  • H0Y474_HUMAN
  • Q6NVJ2_HUMAN
genes like me logo Genes that share paralogs with ATP6V1G2: view

Variants for ATP6V1G2 Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ATP6V1G2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for ATP6V1G2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATP6V1G2
Leiden Open Variation Database (LOVD)
ATP6V1G2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ATP6V1G2 Gene

Disorders for ATP6V1G2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ATP6V1G2 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
autosomal recessive distal renal tubular acidosis
  • ar drta
sorsby fundus dystrophy
  • sfd
dilated cardiomyopathy
  • congestive cardiomyopathy
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ATP6V1G2

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with ATP6V1G2: view

No data available for 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 MJ … Campbell RD (Journal of immunology (Baltimore, Md. : 1950) 1999) 2 3 4
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 40
  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 SD … DREAM investigators (Diabetes care 2010) 3 40
  4. Characterization of tumor necrosis factor-α block haplotypes associated with susceptibility to chronic venous leg ulcers in Caucasian patients. (PMID: 20854863) Tan JH … Wallace HJ (Human immunology 2010) 3 40
  5. High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions. (PMID: 19851445) Barcellos LF … Criswell LA (PLoS genetics 2009) 3 40

Products for ATP6V1G2 Gene

Sources for ATP6V1G2 Gene