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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ATP6V0D2 Gene

protein-coding   GIFtS: 54
GCID: GC08P086999

ATPase, H+ Transporting, Lysosomal 38kDa, V0 Subunit D2

(Previous names: ATPase, H+ transporting, lysosomal 38kD, V0 subunit d isoform...)
  6 related diseases
at
MalaCards
 

Aliases
for ATP6V0D2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section
Aliases
ATPase, H+ Transporting, Lysosomal 38kDa, V0 Subunit D21 2     ATPase, H+ Transporting, Lysosomal 38kDa, V0 Subunit D Isoform 21
Vacuolar Proton Pump Subunit D 22 3     ATP6D22
V-ATPase Subunit D 22 3     VMA62
ATPase, H+ Transporting, Lysosomal 38kD, V0 Subunit D Isoform 21     V-Type Proton ATPase Subunit D 22

External Ids:    HGNC: 182661   Entrez Gene: 2459722   Ensembl: ENSG000001476147   UniProtKB: Q8N8Y23   

Export aliases for ATP6V0D2 gene to outside databases

Previous GC identifers: GC00U991214 GC08P086843 GC08P087067 GC08P087180 GC08P082320


Summaries
for ATP6V0D2 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
GeneCards Summary for ATP6V0D2 Gene: 
ATP6V0D2 (ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2) is a protein-coding gene. Diseases associated with ATP6V0D2 include osteopetrosis, and renal tubular acidosis, and among its related super-pathways are Insulin receptor recycling and Insulin receptor signalling cascade. GO annotations related to this gene include hydrogen ion transmembrane transporter activity and protein binding. An important paralog of this gene is ATP6V0D1.

UniProtKB/Swiss-Prot: VA0D2_HUMAN, Q8N8Y2
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)

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.




Genomic Views
for ATP6V0D2 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NC_018919.2  NT_008046.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ATP6V0D2 gene promoter:
         Sox5   RP58   FOXD1   FOXD3   NF-E2 p45   C/EBPalpha   SRY   CP2   Sox9   NF-E2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ATP6V0D2 promoter sequence
   Search SABiosciences Chromatin IP Primers for ATP6V0D2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ATP6V0D2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Ensembl cytogenetic band:  8q21.3   HGNC cytogenetic band: 8q21.3

ATP6V0D2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATP6V0D2 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P086999:  view genomic region     (about GC identifiers)

Start:
 86,999,552 bp from pter      End:
 87,166,457 bp from pter
Size:
 166,906 bases      Orientation:
 plus strand

Proteins
for ATP6V0D2 gene

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section
UniProtKB/Swiss-Prot: VA0D2_HUMAN, Q8N8Y2 (See protein sequence)
Recommended Name: V-type proton ATPase subunit d 2  
Size: 350 amino acids; 40426 Da
Subunit: 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)

Explore the universe of human proteins at neXtProt for ATP6V0D2: NX_Q8N8Y2

Explore proteomics data for ATP6V0D2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8N8Y2

    • ATP6V0D2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ATP6V0D2 Protein Expression
    REFSEQ proteins: NP_689778.1  
    ENSEMBL proteins: 
     ENSP00000429731   ENSP00000428382   ENSP00000285393  
    Reactome Protein details: Q8N8Y2
    Human Recombinant Protein Products for ATP6V0D2: 
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    Cloud-Clone Corp. Proteins for ATP6V0D2 

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005768endosome ----
    GO:0005769early endosome IEA--
    GO:0010008endosome membrane TAS--
    GO:0016020membrane IDA18752060
    GO:0016324apical plasma membrane IDA15800125

    ATP6V0D2 for ontologies           About GeneDecksing



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    LSBio Antibodies in human, mouse, rat for ATP6V0D2 

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    Cloud-Clone Corp. ELISAs for ATP6V0D2 
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    Protein Domains /
    Families
    for ATP6V0D2 gene

    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    		 HGNC Gene Families: 
    VATP: ATPases / V-type

    IUPHAR Guide to PHARMACOLOGY protein family classification: d2 
    V-type ATPase

    2 InterPro protein domains:
     IPR002843 ATPase_V0-cplx_csu/dsu
     IPR016727 ATPase_V0-cplx_dsu

    Graphical View of Domain Structure for InterPro Entry Q8N8Y2

    ProtoNet protein and cluster: Q8N8Y2

    1 Blocks protein domain: IPB002843 H+-transporting two-sector ATPase

    UniProtKB/Swiss-Prot: VA0D2_HUMAN, Q8N8Y2
    Similarity: Belongs to the V-ATPase V0D/AC39 subunit family


    ATP6V0D2 for domains           About GeneDecksing


    Function
    for ATP6V0D2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section
    Molecular Function:

         UniProtKB/Swiss-Prot Summary: VA0D2_HUMAN, Q8N8Y2
    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): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI18752060
    GO:0015078hydrogen ion transmembrane transporter activity IEA--
         
    ATP6V0D2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ATP6V0D2:
     Decreased viability with pacli 

         4 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Atp6v0d2):
     cellular  hematopoietic system  immune system  skeleton 

    ATP6V0D2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Atp6v0d2tm1Ywc for ATP6V0D2

       inGenious Targeting Laboratory - Custom generated mouse model solutions for ATP6V0D2 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ATP6V0D2 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ATP6V0D2 

    miRNA
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    8/9 QIAGEN miScript miRNA Assays for microRNAs that regulate ATP6V0D2 (see all 9):
    hsa-miR-577 hsa-miR-3688-3p hsa-miR-7-2* hsa-miR-513c hsa-miR-3190 hsa-miR-4261 hsa-miR-7-1* hsa-miR-514b-5p
    SwitchGear 3'UTR luciferase reporter plasmid: ATP6V0D2 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    Cell Line
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    In Situ Assay
    Products:       
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    Pathways & Interactions
    for ATP6V0D2 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ATP6V0D2 About   (see all 13)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Insulin receptor recycling
    		Insulin receptor recycling0.79
    		Latent infection of Homo sapiens with Mycobacterium tuberculosis0.64
    		Transferrin endocytosis and recycling0.79
    		Phagosomal maturation (early endosomal stage)0.64
    		Iron uptake and transport0.69
    		Vibrio cholerae infection0.41
    		Collecting duct acid secretion0.68
    		Epithelial cell signaling in Helicobacter pylori infection0.33
    2IRS-related events
    		Signaling by Insulin receptor0.79
    3Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    		Oxidative phosphorylation0.64
    4Signaling by GPCR
    		Signal Transduction0.55
    5SLC-mediated transmembrane transport
    		Transmembrane transport of small molecules0.50

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5/9        Reactome Pathways for ATP6V0D2 (see all 9)
        Insulin receptor recycling
    Phagosomal maturation (early endosomal stage)
    Latent infection of Homo sapiens with Mycobacterium tuberculosis
    Iron uptake and transport
    Disease


    5/11         Kegg Pathways  (Kegg details for ATP6V0D2) (see all 11):
        Oxidative phosphorylation
    Metabolic pathways
    Lysosome
    Phagosome
    Synaptic vesicle cycle


    ATP6V0D2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ATP6V0D2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/65 Interacting proteins for ATP6V0D2 (ENSP000002853934) via UniProtKB, MINT, STRING, and/or I2D (see all 65)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATP5A1ENSP000002820504STRING: ENSP00000282050
    ATP5C1ENSP000003491424STRING: ENSP00000349142
    ATP5DENSP000002153754STRING: ENSP00000215375
    ATP5HENSP000003015874STRING: ENSP00000301587
    ATP5IENSP000003060034STRING: ENSP00000306003
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006879cellular iron ion homeostasis TAS--
    GO:0008286insulin receptor signaling pathway TAS--
    GO:0015991ATP hydrolysis coupled proton transport IEA--
    GO:0033572transferrin transport TAS--
    GO:0051701interaction with host TAS--

    ATP6V0D2 for ontologies           About GeneDecksing



    Drugs & Compounds
    for ATP6V0D2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    EMD Millipore small molecules for ATP6V0D2:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for ATP6V0D2 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    Bafilomycin A1H+-ATPase (vacuolar) inhibitor[88899-55-2]
    Concanamycin AH+-ATPase (vacuolar) inhibitor[80890-47-7]
    DisulfiramReversibly stimulates SERCA Ca2+-ATPase; displays a range of other activities[97-77-8]

    4 HMDB Compounds for ATP6V0D2    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    Search CenterWatch for drugs/clinical trials and news about ATP6V0D2 / VA0D2

    Transcripts
    for ATP6V0D2 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for ATP6V0D2 gene: 
    NM_152565.1  

    Unigene Cluster for ATP6V0D2:

    ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2
    Hs.436360  [show with all ESTs]
    Unigene Representative Sequence: BC065207
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000521564 ENST00000523635 ENST00000285393(uc003ydp.1)
    miRNA
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    hsa-miR-577 hsa-miR-3688-3p hsa-miR-7-2* hsa-miR-513c hsa-miR-3190 hsa-miR-4261 hsa-miR-7-1* hsa-miR-514b-5p
    SwitchGear 3'UTR luciferase reporter plasmid: ATP6V0D2 3' UTR sequence
    Inhib. RNA
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    Primer
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    Additional mRNA sequence: 

    AK096027.1 AY079172.1 BC065207.1 

    2 DOTS entries:

    DT.40128048  DT.99944955 

    24/27 AceView cDNA sequences (see all 27):

    BI763514 AK096027 CB529551 BC065207 AY079172 NM_152565 BX093720 BX282387 
    BU195251 BF820247 BX955380 AI733048 BG433708 AI791537 CD365338 CA306616 
    BG399722 AI344356 AI948966 CD637882 AI763059 CD637885 AA887457 BI760294 

    GeneLoc Exon Structure


    Expression
    for ATP6V0D2 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ATP6V0D2 expression in normal human tissues (normalized intensities)      ATP6V0D2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCTACCTGGA
    ATP6V0D2 Expression
    About this image


    ATP6V0D2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/12 selected tissues (see all 12) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Zeugopod Periosteum
             skeleton/cranium   
     
     Limb (Muscoskeletal System)    fully expand to see all 2 entries
             limb/hindlimb   
     
     Blood (Respiratory System)    fully expand to see all 2 entries
             monocyte-derived macrophage   
     
     Lung (Respiratory System)
             alveolar macrophages   
     
     Neural Crest (Gastrulation Derivatives)
             skeleton/cranium   

    See ATP6V0D2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ATP6V0D2

    SOURCE GeneReport for Unigene cluster: Hs.436360

    UniProtKB/Swiss-Prot: VA0D2_HUMAN, Q8N8Y2
    Tissue specificity: Kidney, osteoclast and lung

        SABiosciences Expression via Pathway-Focused PCR Array including ATP6V0D2: 
              Mitochondrial Energy Metabolism in human mouse rat

    Primer
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATP6V0D2

    Orthologs
    for ATP6V0D2 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ATP6V0D2 gene from 7/15 species (see all 15)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Atp6v0d21 , 5 ATPase, H+ transporting, lysosomal V0 subunit D21, 5 87.62(n)1
    93.14(a)1    		   4 (7.67 cM)5
    2423411  NM_175406.31  NP_780615.21 
     198768415 
    chicken
    (Gallus gallus)    		 Aves ATP6V0D21 ATPase, H+ transporting, lysosomal 38kDa, V0 subunit more 71.79(n)
    71.88(a)    		   420210  NM_001008455.1  NP_001008455.1 
    lizard
    (Anolis carolinensis)    		 Reptilia ATP6V0D26
    		 Uncharacterized protein
    		 71(a)
    		 1 ↔ 1
    		 4(22906921-22925500)
    fruit fly
    (Drosophila melanogaster)    		 Insecta VhaAC39-16
    VhaAC39-26
    		 Vacuolar H[+] ATPase subunit AC39-2
    		 62(a)
    41(a)
    		 many ↔ many
    many ↔ many
    		 X(3774777-3777000)
    3R(18983739-18985038)
    worm
    (Caenorhabditis elegans)    		 Secernentea vha-166
    		 Protein VHA-16
    		 62(a)
    		 1 → many
    		 I(5079910-5082281)
    baker's yeast
    (Saccharomyces cerevisiae)    		 Saccharomycetes VMA66
    		 Subunit d of the five-subunit V0 integral membrane...
    		 43(a)
    		 1 → many
    		 XII(1026856-1027893)
    corn
    (Zea mays)    		 Liliopsida Zm.50942 Zea mays PCO113315 mRNA sequence 72.33(n)    AY104603.1 


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

    Paralogs
    for ATP6V0D2 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ATP6V0D2 gene
    ATP6V0D12  
    1 SIMAP similar gene for ATP6V0D2 using alignment to 3 protein entries:     VA0D2_HUMAN (see all proteins):
    ATP6V0D1

    ATP6V0D2 for paralogs           About GeneDecksing



    Genomic Variants
    for ATP6V0D2 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1377 SNPs in ATP6V0D2 are shown (see all 1377)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 8 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs736885891,2
    		C,F--87109285(+) TTAACG/CAAACA 1 -- us2k11Minor allele frequency- C:0.50WA 2
    rs1496518131,2
    		--87109352(+) TCCTGC/TCATGG 1 -- us2k10--------
    rs767973711,2
    		--87109510(+) AATTTA/TAAAAA 1 -- us2k10--------
    rs1817899241,2
    		--87109621(+) TGACTG/TATTCA 1 -- us2k10--------
    rs1153183831,2
    		F--87109749(+) GAAAAG/TCTAGG 1 -- us2k11Minor allele frequency- T:0.03WA 118
    rs726867461,2
    		--87109833(+) AGTTCA/GGAAAA 1 -- us2k10--------
    rs1433346951,2
    		--87109899(+) ACAATA/GTATAT 1 -- us2k10--------
    rs1868637701,2
    		--87110030(+) TTAAAC/TACTTA 1 -- us2k10--------
    rs1483429731,2
    		--87110038(+) TTACTA/GTATTG 1 -- us2k10--------
    rs1415283851,2
    		--87110086(+) GGCTGG/TTTCCT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for ATP6V0D2 (86999552 - 87166457 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for ATP6V0D2:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2508953CNV Deletion19546169
    esv2585991CNV Deletion19546169
    esv2737262CNV Deletion23290073
    dgv7830n71CNV Gain21882294
    nsv891147CNV Gain21882294
    nsv428204CNV Gain18775914

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    Disorders / Diseases
    for ATP6V0D2 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    		 6 diseases for ATP6V0D2:    About MalaCards
    osteopetrosis    renal tubular acidosis    cholera    rheumatoid arthritis
    arthritis    tuberculosis


    ATP6V0D2 for disorders           About GeneDecksing


    Export disorders for ATP6V0D2 gene to outside databases

    Publications
    for ATP6V0D2 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ATP6V0D2 gene, integrated from 9 sources (see all 15):
    (articles sorted by number of sources associating them with ATP6V0D2)    		    Utopia: connect your pdf to the dynamic
    world of online information

    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. (PubMed id 12384298)1, 2, 3 Smith A.N.... Karet F.E. (2002)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. Genome-wide mapping for clinically relevant predictors of lamotrigine- and phenytoin-induced hypersensitivity reactions. (PubMed id 22379998)1 McCormack M....Cavalleri G.L. (2012)
    4. Toward an understanding of the protein interaction net work of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (2011)
    5. Adrm1 interacts with Atp6v0d2 and regulates osteoclas t differentiation. (PubMed id 19818731)1 Kim T....Choi Y. (2009)
    6. The d subunit plays a central role in human vacuolar H(+)-ATPases. (PubMed id 18752060)1 Smith A.N....Karet F.E. (2008)
    7. Coupling of rotation and catalysis in F(1)-ATPase rev ealed by single-molecule imaging and manipulation. (PubMed id 17662945)1 Adachi K....Kinosita K. (2007)
    8. Vacuolar H+-ATPase d2 subunit: molecular characteriza tion, developmental regulation, and localization to specialized proton pumps in kidney and bone. (PubMed id 15800125)1 Smith A.N....Karet F.E. (2005)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    10. Neurotransmitter release: the dark side of the vacuolar-H+ATPase. (PubMed id 14597263)1 Morel N. (2003)

    External Searches for ATP6V0D2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing ATP6V0D2 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 245972 HGNC: 18266 AceView: ATP6V0D2 Ensembl:ENSG00000147614 euGenes: HUgn245972
    ECgene: ATP6V0D2 Kegg: 245972 H-InvDB: ATP6V0D2

    Other Databases showing ATP6V0D2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing ATP6V0D2 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ATP6V0D2 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for ATP6V0D2 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for ATP6V0D2 gene:
    Search GeneIP for patents involving ATP6V0D2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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