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Aliases for ATP6V0D2 Gene

Aliases for ATP6V0D2 Gene

  • ATPase H+ Transporting V0 Subunit D2 2 3 5
  • ATPase, H+ Transporting, Lysosomal 38kDa, V0 Subunit D2 2 3
  • Vacuolar Proton Pump Subunit D 2 3 4
  • V-ATPase Subunit D 2 3 4
  • ATPase, H+ Transporting, Lysosomal 38kDa, V0 Subunit D Isoform 2 2
  • ATPase, H+ Transporting, Lysosomal 38kD, V0 Subunit D Isoform 2 2
  • V-Type Proton ATPase Subunit D 2 3
  • ATP6D2 3
  • VMA6 3

External Ids for ATP6V0D2 Gene

Previous GeneCards Identifiers for ATP6V0D2 Gene

  • GC00U991214
  • GC08P086843
  • GC08P087067
  • GC08P087180
  • GC08P082320
  • GC08P086999

Summaries for ATP6V0D2 Gene

GeneCards Summary for ATP6V0D2 Gene

ATP6V0D2 (ATPase H+ Transporting V0 Subunit D2) is a Protein Coding gene. Diseases associated with ATP6V0D2 include Neurotic Disorder. Among its related pathways are Ion channel transport and Immune System. GO annotations related to this gene include hydrogen ion transmembrane transporter activity. An important paralog of this gene is ATP6V0D1.

UniProtKB/Swiss-Prot for ATP6V0D2 Gene

  • Subunit of the integral membrane V0 complex of vacuolar ATPase. Vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells, thus providing most of the energy required for transport processes in the vacuolar system. May play a role in coupling of proton transport and ATP hydrolysis (By similarity).

Tocris Summary for ATP6V0D2 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.

No data available for Entrez Gene Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATP6V0D2 Gene

Genomics for ATP6V0D2 Gene

Regulatory Elements for ATP6V0D2 Gene

Enhancers for ATP6V0D2 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
GH08F085958 1.2 Ensembl ENCODE 0.3 -27.8 -27800 2.4 HDGF PKNOX1 ATF1 ARNT GATA2 FOS NCOA1 MBD2 MEF2D SMARCA4 E2F5 CA3-AS1 CA2 ATP6V0D2 LOC105375622
GH08F085979 0.8 Ensembl ENCODE 0.4 -7.5 -7523 0.4 JUND JUN CEBPB FOS FOSL2 EP300 CA2 CA3-AS1 ATP6V0D2 LOC105375622
GH08F085974 0.8 Ensembl ENCODE 0.4 -12.7 -12660 1.3 PKNOX1 SMARCA4 CEBPB EP300 SP7 CA2 CA3-AS1 ATP6V0D2 LOC105375622
GH08F085999 0.8 ENCODE 0.4 +14.7 14686 4.9 GTF2F1 MXI1 PKNOX1 JUN MAX CEBPG RAD21 RFX5 GATA3 CTBP1 PSKH2 CA2 CA3-AS1 CA1 ATP6V0D2 RPL36AP31
GH08F085973 0.6 ENCODE 0.4 -13.8 -13767 0.1 CTCF ZNF654 REST RAD21 CHAMP1 SMC3 HNF4G MIXL1 CA2 CA3-AS1 ATP6V0D2 LOC105375622
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ATP6V0D2 on UCSC Golden Path with GeneCards custom track

Genomic Location for ATP6V0D2 Gene

Chromosome:
8
Start:
85,987,323 bp from pter
End:
86,154,228 bp from pter
Size:
166,906 bases
Orientation:
Plus strand

Genomic View for ATP6V0D2 Gene

Genes around ATP6V0D2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP6V0D2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATP6V0D2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP6V0D2 Gene

Proteins for ATP6V0D2 Gene

  • Protein details for ATP6V0D2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N8Y2-VA0D2_HUMAN
    Recommended name:
    V-type proton ATPase subunit d 2
    Protein Accession:
    Q8N8Y2

    Protein attributes for ATP6V0D2 Gene

    Size:
    350 amino acids
    Molecular mass:
    40426 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).

neXtProt entry for ATP6V0D2 Gene

Post-translational modifications for ATP6V0D2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ATP6V0D2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for ATP6V0D2 Gene

Domains & Families for ATP6V0D2 Gene

Gene Families for ATP6V0D2 Gene

HGNC:
IUPHAR :

Suggested Antigen Peptide Sequences for ATP6V0D2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8N8Y2

UniProtKB/Swiss-Prot:

VA0D2_HUMAN :
  • Belongs to the V-ATPase V0D/AC39 subunit family.
Family:
  • Belongs to the V-ATPase V0D/AC39 subunit family.
genes like me logo Genes that share domains with ATP6V0D2: view

Function for ATP6V0D2 Gene

Molecular function for ATP6V0D2 Gene

UniProtKB/Swiss-Prot Function:
Subunit of the integral membrane V0 complex of vacuolar ATPase. Vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells, thus providing most of the energy required for transport processes in the vacuolar system. May play a role in coupling of proton transport and ATP hydrolysis (By similarity).

Gene Ontology (GO) - Molecular Function for ATP6V0D2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IPI 18752060
GO:0008553 hydrogen-exporting ATPase activity, phosphorylative mechanism IBA --
GO:0015078 hydrogen ion transmembrane transporter activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ATP6V0D2: view
genes like me logo Genes that share phenotypes with ATP6V0D2: view

Animal Models for ATP6V0D2 Gene

MGI Knock Outs for ATP6V0D2:

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ATP6V0D2 Gene

Localization for ATP6V0D2 Gene

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 ATP6V0D2 gene
Compartment Confidence
plasma membrane 5
extracellular 5
endosome 4
cytosol 3
nucleus 2
mitochondrion 1
lysosome 1

Gene Ontology (GO) - Cellular Components for ATP6V0D2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005765 lysosomal membrane IBA --
GO:0005768 endosome IEA --
GO:0005769 early endosome IBA --
GO:0010008 endosome membrane TAS --
genes like me logo Genes that share ontologies with ATP6V0D2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for ATP6V0D2 Gene

Pathways & Interactions for ATP6V0D2 Gene

genes like me logo Genes that share pathways with ATP6V0D2: view

Gene Ontology (GO) - Biological Process for ATP6V0D2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0007034 vacuolar transport IBA --
genes like me logo Genes that share ontologies with ATP6V0D2: view

No data available for SIGNOR curated interactions for ATP6V0D2 Gene

Drugs & Compounds for ATP6V0D2 Gene

(5) Drugs for ATP6V0D2 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 ATP6V0D2 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 ATP6V0D2 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 ATP6V0D2: view

Transcripts for ATP6V0D2 Gene

mRNA/cDNA for ATP6V0D2 Gene

Unigene Clusters for ATP6V0D2 Gene

ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ATP6V0D2 Gene

No ASD Table

Relevant External Links for ATP6V0D2 Gene

GeneLoc Exon Structure for
ATP6V0D2
ECgene alternative splicing isoforms for
ATP6V0D2

Expression for ATP6V0D2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ATP6V0D2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ATP6V0D2 Gene

This gene is overexpressed in Kidney - Cortex (x44.7).

Protein differential expression in normal tissues from HIPED for ATP6V0D2 Gene

This gene is overexpressed in Frontal cortex (24.6) and Bone (21.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ATP6V0D2 Gene



NURSA nuclear receptor signaling pathways regulating expression of ATP6V0D2 Gene:

ATP6V0D2

SOURCE GeneReport for Unigene cluster for ATP6V0D2 Gene:

Hs.436360

mRNA Expression by UniProt/SwissProt for ATP6V0D2 Gene:

Q8N8Y2-VA0D2_HUMAN
Tissue specificity: Kidney, osteoclast and lung.
genes like me logo Genes that share expression patterns with ATP6V0D2: view

Primer Products

No data available for Protein tissue co-expression partners for ATP6V0D2 Gene

Orthologs for ATP6V0D2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ATP6V0D2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ATP6V0D2 34 35
  • 99.81 (n)
dog
(Canis familiaris)
Mammalia ATP6V0D2 34 35
  • 89.62 (n)
mouse
(Mus musculus)
Mammalia Atp6v0d2 34 16 35
  • 87.62 (n)
rat
(Rattus norvegicus)
Mammalia Atp6v0d2 34
  • 86.76 (n)
cow
(Bos Taurus)
Mammalia ATP6V0D2 34 35
  • 85.81 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ATP6V0D2 35
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ATP6V0D2 35
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves ATP6V0D2 34 35
  • 71.77 (n)
lizard
(Anolis carolinensis)
Reptilia ATP6V0D2 35
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atp6v0d2 34
  • 69.53 (n)
fruit fly
(Drosophila melanogaster)
Insecta VhaAC39-1 35
  • 62 (a)
ManyToMany
VhaAC39-2 35
  • 41 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea vha-16 35
  • 61 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VMA6 35
  • 43 (a)
OneToMany
corn
(Zea mays)
Liliopsida Zm.5094 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9989 35
  • 60 (a)
OneToMany
Species where no ortholog for ATP6V0D2 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)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 ATP6V0D2 Gene

ENSEMBL:
Gene Tree for ATP6V0D2 (if available)
TreeFam:
Gene Tree for ATP6V0D2 (if available)

Paralogs for ATP6V0D2 Gene

Paralogs for ATP6V0D2 Gene

(1) SIMAP similar genes for ATP6V0D2 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with ATP6V0D2: view

Variants for ATP6V0D2 Gene

Sequence variations from dbSNP and Humsavar for ATP6V0D2 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs10086540 -- 86,150,770(+) GAAAC(A/G)TAGCT intron-variant
rs10090377 -- 86,126,177(+) AGTGA(G/T)CCACC intron-variant
rs10093178 -- 86,139,456(+) AACCA(G/T)GTGCA splice-acceptor-variant
rs10094744 -- 86,150,286(+) ATTAC(A/G)GAGTA reference, missense
rs10095107 -- 86,152,657(+) AACTT(C/T)CTGAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ATP6V0D2 Gene

Variant ID Type Subtype PubMed ID
nsv611674 CNV gain 21841781
nsv611673 CNV loss 21841781
nsv428204 CNV gain 18775914
nsv1128170 CNV deletion 24896259
nsv1124357 CNV deletion 24896259
nsv1028959 CNV gain 25217958
esv3891432 CNV gain 25118596
esv3572885 CNV loss 25503493
esv3543786 CNV deletion 23714750
esv2761443 CNV gain 21179565
esv2737262 CNV deletion 23290073
esv2585991 CNV deletion 19546169
esv2508953 CNV deletion 19546169
dgv7263n100 CNV gain 25217958
dgv7262n100 CNV gain 25217958

Variation tolerance for ATP6V0D2 Gene

Residual Variation Intolerance Score: 80.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.93; 59.55% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ATP6V0D2 Gene

Human Gene Mutation Database (HGMD)
ATP6V0D2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATP6V0D2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP6V0D2 Gene

Disorders for ATP6V0D2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ATP6V0D2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
neurotic disorder
  • depressive neurosis
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for ATP6V0D2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ATP6V0D2
genes like me logo Genes that share disorders with ATP6V0D2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ATP6V0D2 Gene

Publications for ATP6V0D2 Gene

  1. 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. (PMID: 12384298) Smith A.N. … Karet F.E. (Gene 2002) 2 3 4 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
  4. Expression, purification and characterization of human vacuolar-type H(+)-ATPase subunit d1 and d2 in Escherichia coli. (PMID: 24631925) Lim H. … Kim Y.J. (Protein Expr. Purif. 2014) 3 64
  5. Proteomic analysis of podocyte exosome-enriched fraction from normal human urine. (PMID: 23376485) Prunotto M. … Moll S. (J Proteomics 2013) 3 64

Products for ATP6V0D2 Gene

Sources for ATP6V0D2 Gene

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