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ATP6V0D2 Gene(Protein Coding)

ATPase H+ Transporting V0 Subunit D2

GCID:
GC08P085987
GIFtS:
51
Genes Participants
UDN Logo

Aliases for ATP6V0D2 Gene

Aliases for ATP6V0D2 Gene

  • ATPase H+ Transporting V0 Subunit D2 2 3
  • ATPase, H+ Transporting, Lysosomal 38kDa, V0 Subunit D2 2 3 5
  • 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
  • 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. Among its related pathways are Synaptic vesicle cycle 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

Products:

  1. Regulatory Element

Regulatory Elements for ATP6V0D2 Gene

Enhancers for ATP6V0D2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ATP6V0D2 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the ATP6V0D2 gene promoter:

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 Structure • Gene Density

RefSeq DNA sequence for ATP6V0D2 Gene

Proteins for ATP6V0D2 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Proteomics data for ATP6V0D2 Gene at MOPED

Protein Expression for ATP6V0D2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for ATP6V0D2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ATP6V0D2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ATP6V0D2 Gene

Domains & Families for ATP6V0D2 Gene

Gene Families for ATP6V0D2 Gene

HGNC:
IUPHAR :

Protein Domains for ATP6V0D2 Gene

InterPro:
Blocks:
ProtoNet:

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

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).

Phenotypes for ATP6V0D2 Gene

MGI mutant phenotypes for ATP6V0D2:
inferred from 1 alleles
GenomeRNAi human phenotypes for ATP6V0D2:
genes like me logo Genes that share phenotypes with ATP6V0D2: view

Animal Models for ATP6V0D2 Gene

MGI Knock Outs for ATP6V0D2:

Animal Model Products

miRNA for ATP6V0D2 Gene

miRTarBase miRNAs that target ATP6V0D2

Inhibitory RNA Products

Flow Cytometry Products

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

Localization for ATP6V0D2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ATP6V0D2 Gene COMPARTMENTS Subcellular localization image for ATP6V0D2 gene
Compartment Confidence
extracellular 5
plasma membrane 5
vacuole 5
endosome 4
cytosol 3
nucleus 2
lysosome 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for ATP6V0D2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005769 early endosome IEA --
GO:0033179 proton-transporting V-type ATPase, V0 domain IEA --
GO:0070062 extracellular exosome IDA 19056867
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

Interacting Proteins for ATP6V0D2 Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000285393%0d%0a9606.ENSP00000353224%0d%0a9606.ENSP00000290949%0d%0a9606.ENSP00000385834%0d%0a9606.ENSP00000357835%0d%0a9606.ENSP00000362329%0d%0a
Selected Interacting proteins: ENSP00000285393 for ATP6V0D2 Gene via STRING

Gene Ontology (GO) - Biological Process for ATP6V0D2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008286 insulin receptor signaling pathway TAS --
GO:0015991 ATP hydrolysis coupled proton transport IEA --
GO:0033572 transferrin transport TAS --
GO:0090383 phagosome acidification TAS --
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

Products:

  1. Drug

(3) Drugs for ATP6V0D2 Gene - From: HMDB and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0
Disulfiram Approved Pharma Reversibly stimulates SERCA Ca2+-ATPase; displays a range of other activities 34
Bafilomycin A1 Experimental Pharma H+-ATPase (vacuolar) inhibitor 0

(5) Additional Compounds for ATP6V0D2 Gene - From: HMDB and Tocris

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
Water
  • Dihydrogen oxide
  • Steam
 7732-18-5
Concanamycin A
80890-47-7
Enterostatin
117830-79-2

(4) 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
Enterostatin Binds to beta-subunit of F1-ATPase; anorexigenic peptide 117830-79-2
genes like me logo Genes that share compounds with ATP6V0D2: view

Transcripts for ATP6V0D2 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for ATP6V0D2 Gene

(2) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(27) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ATP6V0D2 Gene

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

Inhibitory RNA 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

Products:

  1. Primer

mRNA expression in normal human tissues for ATP6V0D2 Gene

mRNA expression in normal human tissues for ATP6V0D2 Gene
mRNA expression by BioGPS for ATP6V0D2 GenemRNA expression by GTEx 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, MOPED, and MaxQB for ATP6V0D2 Gene



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
cow
(Bos Taurus)
 Mammalia ATP6V0D2 35
  • 85.81 (n)
  • 90 (a)
ATP6V0D2 36
  • 90 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia ATP6V0D2 35
  • 89.62 (n)
  • 95.14 (a)
ATP6V0D2 36
  • 95 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Atp6v0d2 35
  • 87.62 (n)
  • 93.14 (a)
Atp6v0d2 16
Atp6v0d2 36
  • 93 (a)
 OneToOne
chimpanzee
(Pan troglodytes)
 Mammalia ATP6V0D2 35
  • 99.81 (n)
  • 100 (a)
ATP6V0D2 36
  • 100 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Atp6v0d2 35
  • 86.76 (n)
  • 92 (a)
oppossum
(Monodelphis domestica)
 Mammalia ATP6V0D2 36
  • 84 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia ATP6V0D2 36
  • 85 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves ATP6V0D2 35
  • 71.77 (n)
  • 71.68 (a)
ATP6V0D2 36
  • 71 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia ATP6V0D2 36
  • 72 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia atp6v0d2 35
  • 69.53 (n)
  • 69.91 (a)
fruit fly
(Drosophila melanogaster)
 Insecta VhaAC39-1 36
  • 62 (a)
 ManyToMany
VhaAC39-2 36
  • 41 (a)
 ManyToMany
worm
(Caenorhabditis elegans)
 Secernentea vha-16 36
  • 61 (a)
 OneToMany
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes VMA6 36
  • 43 (a)
 OneToMany
corn
(Zea mays)
 Liliopsida Zm.5094 35
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.9989 36
  • 60 (a)
 OneToMany
Species with no ortholog for ATP6V0D2:
  • 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
rs10094744 - 86,150,286(+) ATTAC(A/G)GAGTA reference, missense
rs4263741 - 86,151,532(+) TTTAC(A/G)AGCGT reference, missense
rs2128929 -- 86,117,427(+) AAATA(A/G)CTCTC intron-variant
rs2128930 -- 86,147,424(-) GTCCC(A/G)TGACT intron-variant
rs2318395 -- 86,125,624(-) ACTCA(A/G)TCCAT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv428204 CNV Gain 18775914
nsv891147 CNV Gain 21882294
dgv7830n71 CNV Gain 21882294
esv2585991 CNV Deletion 19546169
esv2508953 CNV Deletion 19546169
esv2737262 CNV Deletion 23290073

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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for ATP6V0D2 Gene

Disorders for ATP6V0D2 Gene

Relevant External Links for ATP6V0D2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ATP6V0D2

No disorders were found for ATP6V0D2 Gene.

No data available for MalaCards , 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 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. 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
  4. Proteomic analysis of podocyte exosome-enriched fraction from normal human urine. (PMID: 23376485) Prunotto M. … Moll S. (J Proteomics 2013) 3
  5. Genome-wide mapping for clinically relevant predictors of lamotrigine- and phenytoin-induced hypersensitivity reactions. (PMID: 22379998) McCormack M. … Cavalleri G.L. (Pharmacogenomics 2012) 3

Products for ATP6V0D2 Gene

Sources for ATP6V0D2 Gene

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