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Aliases for ATP6V1G2-DDX39B Gene

Subcategory (RNA class) for ATP6V1G2-DDX39B Gene


Quality Score for this RNA gene is


Aliases for ATP6V1G2-DDX39B Gene

  • ATP6V1G2-DDX39B Readthrough (NMD Candidate) 2 3 5
  • ATP6V1G2-DDX39B Readthrough (Non-Protein Coding) 3

External Ids for ATP6V1G2-DDX39B Gene

Previous GeneCards Identifiers for ATP6V1G2-DDX39B Gene

  • GC06U902172
  • GC06M031501
  • GC06M031523
  • GC06M031532
  • GC06M031545
  • GC06M031561
  • GC06M031576
  • GC06M031590
  • GC06M031827
  • GC06M031876
  • GC06M031914

Summaries for ATP6V1G2-DDX39B Gene

Entrez Gene Summary for ATP6V1G2-DDX39B Gene

  • This locus represents naturally occurring read-through transcription between the neighboring ATP6V1G2 (ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2) and DDX39B (DEAD box polypeptide 39B) genes located in the major histocompatibility complex class III region of chromosome 6. The read-through transcript and is a candidate for nonsense-mediated mRNA decay (NMD), and is thus unlikely to produce a protein product. [provided by RefSeq, Feb 2011]

GeneCards Summary for ATP6V1G2-DDX39B Gene

ATP6V1G2-DDX39B (ATP6V1G2-DDX39B Readthrough (NMD Candidate)) is an RNA Gene, and is affiliated with the ncRNA class. Diseases associated with ATP6V1G2-DDX39B include Hypertrophic Cardiomyopathy and Dilated Cardiomyopathy. An important paralog of this gene is ATP6V1G2.

Additional gene information for ATP6V1G2-DDX39B Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATP6V1G2-DDX39B Gene

Genomics for ATP6V1G2-DDX39B Gene

GeneHancer (GH) Regulatory Elements for ATP6V1G2-DDX39B Gene

Promoters and enhancers for ATP6V1G2-DDX39B Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J031545 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 650.7 -0.7 -684 3.2 CLOCK MLX YBX1 FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 NFKBIL1 ATP6V1G2 ATP6V1G2-DDX39B DDX39B ATF6B LY6G5B LSM2 DHX16 MDC1 PPP1R10
GH06J031538 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 0.4 +5.7 5709 4.9 MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 ZNF263 DDX39B DDX39B-AS1 GC06M031542 GC06M031543 GC06M031550 GC06M031555 GC06M031573 GC06M032007 GC06M032013 GC06M032015
GH06J031534 Promoter 0.8 EPDnew 0.4 +12.3 12274 0.1 POLR2A HLF RBM22 ZBTB33 SUPT5H GC06M031536 GC06M031537 GC06M031538 GC06M031539 GC06M031540 GC06M032005 GC06M032010 GC06M032012 GC06M032014 PIR52858
GH06J031530 Promoter 0.6 EPDnew 0.4 +16.5 16465 0.1 POLR2A MCCD1 DDX39B PIR52858 ATP6V1G2-DDX39B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ATP6V1G2-DDX39B on UCSC Golden Path with GeneCards custom track

Genomic Locations for ATP6V1G2-DDX39B Gene

Genomic Locations for ATP6V1G2-DDX39B Gene
16,630 bases
Minus strand
16,630 bases
Minus strand

Genomic View for ATP6V1G2-DDX39B Gene

Genes around ATP6V1G2-DDX39B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP6V1G2-DDX39B 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-DDX39B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

Proteins for ATP6V1G2-DDX39B Gene

  • Protein details for ATP6V1G2-DDX39B Gene (UniProtKB/TrEMBL)

    Protein Symbol:
    Recommended name:
    V-type proton ATPase subunit G
    Protein Accession:

    Protein attributes for ATP6V1G2-DDX39B Gene

    99 amino acids
    Molecular mass:
    11355 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.

neXtProt entry for ATP6V1G2-DDX39B Gene

Post-translational modifications for ATP6V1G2-DDX39B Gene

No Post-translational modifications

Other Protein References for ATP6V1G2-DDX39B Gene

ENSEMBL proteins:

No data available for DME Specific Peptides for ATP6V1G2-DDX39B Gene

Domains & Families for ATP6V1G2-DDX39B Gene

Gene Families for ATP6V1G2-DDX39B Gene

  • Belongs to the V-ATPase G subunit family.

Protein Domains for ATP6V1G2-DDX39B Gene


Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with ATP6V1G2-DDX39B: view

No data available for Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for ATP6V1G2-DDX39B Gene

Function for ATP6V1G2-DDX39B Gene

Molecular function for ATP6V1G2-DDX39B Gene

UniProtKB/TrEMBL 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.
  • F2Z307

Phenotypes From GWAS Catalog for ATP6V1G2-DDX39B Gene

Gene Ontology (GO) - Molecular Function for ATP6V1G2-DDX39B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042626 ATPase activity, coupled to transmembrane movement of substances IEA --
genes like me logo Genes that share ontologies with ATP6V1G2-DDX39B: view

Phenotypes for ATP6V1G2-DDX39B Gene

genes like me logo Genes that share phenotypes with ATP6V1G2-DDX39B: view

Animal Model Products

miRNA for ATP6V1G2-DDX39B Gene

miRTarBase miRNAs that target ATP6V1G2-DDX39B

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ATP6V1G2-DDX39B Gene

Localization for ATP6V1G2-DDX39B Gene

Gene Ontology (GO) - Cellular Components for ATP6V1G2-DDX39B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016471 vacuolar proton-transporting V-type ATPase complex IEA --
genes like me logo Genes that share ontologies with ATP6V1G2-DDX39B: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS and Subcellular locations from the Human Protein Atlas (HPA) for ATP6V1G2-DDX39B Gene

Pathways & Interactions for ATP6V1G2-DDX39B Gene

SuperPathways for ATP6V1G2-DDX39B Gene

No Data Available

Interacting Proteins for ATP6V1G2-DDX39B Gene

Gene Ontology (GO) - Biological Process for ATP6V1G2-DDX39B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0055085 transmembrane transport IEA --
genes like me logo Genes that share ontologies with ATP6V1G2-DDX39B: view

No data available for Pathways by source and SIGNOR curated interactions for ATP6V1G2-DDX39B Gene

Drugs & Compounds for ATP6V1G2-DDX39B Gene

No Compound Related Data Available

Transcripts for ATP6V1G2-DDX39B Gene

mRNA/cDNA for ATP6V1G2-DDX39B Gene

(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :
(1) RNA Central transcripts :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ATP6V1G2-DDX39B Gene

No ASD Table

Relevant External Links for ATP6V1G2-DDX39B Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ATP6V1G2-DDX39B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ATP6V1G2-DDX39B Gene

genes like me logo Genes that share expression patterns with ATP6V1G2-DDX39B: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for ATP6V1G2-DDX39B Gene

Orthologs for ATP6V1G2-DDX39B Gene

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

Orthologs for ATP6V1G2-DDX39B Gene

Organism Taxonomy Gene Similarity Type Details
(Monodelphis domestica)
Mammalia -- 34
  • 57 (a)
(Mus musculus)
Mammalia Gm5283 34
  • 43 (a)
(Canis familiaris)
Mammalia -- 34
  • 30 (a)
(Anolis carolinensis)
Reptilia -- 34
  • 49 (a)
fruit fly
(Drosophila melanogaster)
Insecta Vha13 34
  • 37 (a)
(Caenorhabditis elegans)
Secernentea vha-10 34
  • 37 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VMA10 34
  • 25 (a)
SUB2 36
Species where no ortholog for ATP6V1G2-DDX39B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • 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)
  • rat (Rattus norvegicus)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • zebrafish (Danio rerio)

Evolution for ATP6V1G2-DDX39B Gene

Gene Tree for ATP6V1G2-DDX39B (if available)
Gene Tree for ATP6V1G2-DDX39B (if available)
Evolutionary constrained regions (ECRs) for ATP6V1G2-DDX39B: view image

Paralogs for ATP6V1G2-DDX39B Gene

Paralogs for ATP6V1G2-DDX39B Gene

(3) SIMAP similar genes for ATP6V1G2-DDX39B Gene using alignment to 1 proteins:

  • F2Z307_HUMAN
genes like me logo Genes that share paralogs with ATP6V1G2-DDX39B: view

Variants for ATP6V1G2-DDX39B Gene

Sequence variations from dbSNP and Humsavar for ATP6V1G2-DDX39B Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1000206682 -- 31,543,039(-) C/T intron_variant
rs1000501115 -- 31,537,902(-) A/G intron_variant
rs1000639768 -- 31,530,616(-) T/A intron_variant
rs1000684336 -- 31,530,463(-) C/T intron_variant
rs1000782414 -- 31,544,587(-) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ATP6V1G2-DDX39B Gene

Variant ID Type Subtype PubMed ID
nsv830627 CNV loss 17160897
nsv470809 CNV loss 18288195
nsv1126749 CNV deletion 24896259
nsv1112900 CNV deletion 24896259
nsv1073969 CNV deletion 25765185
nsv1021578 CNV gain 25217958
esv2759414 CNV gain+loss 17122850
dgv995e201 CNV deletion 23290073
dgv213e55 CNV gain 17911159
dgv10404n54 CNV loss 21841781
dgv10403n54 CNV loss 21841781

Additional Variant Information for ATP6V1G2-DDX39B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for ATP6V1G2-DDX39B Gene

Disorders for ATP6V1G2-DDX39B Gene

MalaCards: The human disease database

(2) MalaCards diseases for ATP6V1G2-DDX39B Gene - From: LncRNADisease and GeneCards

Disorder Aliases PubMed IDs
hypertrophic cardiomyopathy
  • familial hypertrophic cardiomyopathy
dilated cardiomyopathy
  • cardiomyopathy, familial idiopathic
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ATP6V1G2-DDX39B

genes like me logo Genes that share disorders with ATP6V1G2-DDX39B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ATP6V1G2-DDX39B Gene

Publications for ATP6V1G2-DDX39B Gene

  1. RNA-binding activity of TRIM25 is mediated by its PRY/SPRY domain and is required for ubiquitination. (PMID: 29117863) Choudhury NR … Michlewski G (BMC biology 2017) 3 58
  2. A whole-genome association study of major determinants for allopurinol-related Stevens-Johnson syndrome and toxic epidermal necrolysis in Japanese patients. (PMID: 21912425) Tohkin M … Japan Pharmacogenomics Data Science Consortium (The pharmacogenomics journal 2013) 3 58
  3. Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis. (PMID: 22197932) Paternoster L … EArly Genetics & Lifecourse Epidemiology (EAGLE) Consortium (Nature genetics 2011) 3 58
  4. Expression of conjoined genes: another mechanism for gene regulation in eukaryotes. (PMID: 20967262) Prakash T … Taylor TD (PloS one 2010) 3 58
  5. The haplotype block, NFKBIL1-ATP6V1G2-BAT1-MICB-MICA, within the class III-class I boundary region of the human major histocompatibility complex may control susceptibility to hepatitis C virus-associated dilated cardiomyopathy. (PMID: 16101831) Shichi D … Inoko H (Tissue antigens 2005) 3 58

Products for ATP6V1G2-DDX39B Gene

Sources for ATP6V1G2-DDX39B Gene

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