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Aliases for ATP6V0D2 Gene

Aliases for ATP6V0D2 Gene

  • 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, Lysosomal 38kDa, V0 Subunit D2) is a Protein Coding gene. Among its related pathways are Signaling by GPCR and Insulin receptor signalling cascade. 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, endosomes, the Golgi apparatus, chromaffin granules and coated vesicles, as well as in the plasma membrane. H+-ATPase is a multisubunit complex composed of two domains. The V1 domain is responsible for ATP hydrolysis and the V0 domain is responsible for protein translocation. There are two main mechanisms of regulating H+-ATPase activity; recycling of H+-ATPase-containing vesicles to and from the plasma membrane and glucose-sensitive assembly/disassembly of the holoenzyme complex. These transporters play an important role in processes such as receptor-mediated endocytosis, protein degradation and coupled transport. They have a function in bone reabsorption and mutations in the A3 gene cause recessive osteopetrosis. Furthermore, H+-ATPases have been implicated in tumor metastasis and regulation of sperm motility and maturation.

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

Genomic Location for ATP6V0D2 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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
    Secondary Accessions:

    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

Post-translational modifications for ATP6V0D2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ATP6V0D2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for ATP6V0D2 Gene

Domains for ATP6V0D2 Gene

Gene Families for ATP6V0D2 Gene

HGNC:
  • VATP :ATPases / V-type
IUPHAR :

Protein Domains for ATP6V0D2 Gene

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 :
  • Q8N8Y2
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:0005515 protein binding IPI 18752060
GO:0015078 hydrogen ion transmembrane transporter activity IEA --
genes like me logo Genes that share ontologies with ATP6V0D2: view

Phenotypes for ATP6V0D2 Gene

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

Animal Models for ATP6V0D2 Gene

MGI Knock Outs for ATP6V0D2:

miRNA for ATP6V0D2 Gene

miRTarBase miRNAs that target ATP6V0D2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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
plasma membrane 5
vacuole 5
endosome 4
cytosol 3
nucleus 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for ATP6V0D2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome --
GO:0005769 early endosome IEA --
GO:0010008 endosome membrane TAS --
GO:0016020 membrane IDA 18752060
GO:0016324 apical plasma membrane IDA 15800125
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 for ATP6V0D2 Gene

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

Interacting Proteins for ATP6V0D2 Gene

Gene Ontology (GO) - Biological Process for ATP6V0D2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006879 cellular iron ion homeostasis TAS --
GO:0008286 insulin receptor signaling pathway TAS --
GO:0015991 ATP hydrolysis coupled proton transport IEA --
GO:0033572 transferrin transport TAS --
GO:0034220 ion transmembrane transport TAS --
genes like me logo Genes that share ontologies with ATP6V0D2: view

Compounds for ATP6V0D2 Gene

(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]

(4) HMDB Compounds for ATP6V0D2 Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0
Phosphate
  • NFB Orthophosphate
14265-44-2
Water
  • Dihydrogen oxide
7732-18-5
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:

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 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 (44.7).

Integrated Proteomics: protein expression 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 expressions with ATP6V0D2: view

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 35
  • 99.81 (n)
  • 100 (a)
ATP6V0D2 36
  • 100 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia ATP6V0D2 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATP6V0D2 36
  • 85 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Atp6v0d2 35
  • 86.76 (n)
  • 92 (a)
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

Selected 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 MAF
rs900635 -- 86,131,098(-) TAGGT(A/G)TATGA intron-variant
rs900637 -- 86,144,763(-) TTTGA(A/G)CCCAA intron-variant
rs900638 -- 86,101,485(+) AAAAA(A/G)GAATT intron-variant
rs953147 -- 86,137,126(-) ATTAA(C/T)GGGAC intron-variant
rs953148 -- 86,136,762(-) TGGGG(G/T)ACAGA 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

Relevant External Links for ATP6V0D2 Gene

HapMap Linkage Disequilibrium report
ATP6V0D2

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

Disorders for ATP6V0D2 Gene

No disorders were found for ATP6V0D2 Gene.

No data available for UniProtKB/Swiss-Prot 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
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. Vacuolar H+-ATPase d2 subunit: molecular characterization, developmental regulation, and localization to specialized proton pumps in kidney and bone. (PMID: 15800125) Smith A.N. … Karet F.E. (J. Am. Soc. Nephrol. 2005) 3
  4. Coupling of rotation and catalysis in F(1)-ATPase revealed by single-molecule imaging and manipulation. (PMID: 17662945) Adachi K. … Kinosita K. (Cell 2007) 3
  5. The d subunit plays a central role in human vacuolar H(+)-ATPases. (PMID: 18752060) Smith A.N. … Karet F.E. (J. Bioenerg. Biomembr. 2008) 3

Products for ATP6V0D2 Gene

Sources for ATP6V0D2 Gene

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