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ATP6V0D2 Gene

protein-coding   GIFtS: 53
GCID: GC08P086999

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

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

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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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


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. GO annotations related to this gene include hydrogen ion transmembrane transporter activity. 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.




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000008.11  NC_018919.2  NT_008046.17  
Regulatory elements:
   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 plasmidATP6V0D2 promoter sequence
   Search Chromatin IP Primers for ATP6V0D2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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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


See ATP6V0D2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_689778.1  
ENSEMBL proteins: 
 ENSP00000429731   ENSP00000428382   ENSP00000285393  
Reactome Protein details: Q8N8Y2

ATP6V0D2 Human Recombinant Protein Products:

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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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


(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,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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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:    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: Let us create your new Knockout/Knockin mouse model for ATP6V0D2
   inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ATP6V0D2

   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
Products:
    
miRTarBase miRNAs that target ATP6V0D2:
hsa-mir-335-5p (MIRT018085)

Block miRNA regulation of human, mouse, rat ATP6V0D2 using miScript Target Protectors
Selected qRT-PCR 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 plasmidATP6V0D2 3' UTR sequence
Inhib. RNA
Products:
    
OriGene RNAi products in human, mouse, rat for ATP6V0D2
Predesigned siRNA for gene silencing in human, mouse, rat ATP6V0D2

Gene Editing
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GenScript: all cDNA clones in your preferred vector: ATP6V0D2 (NM_152565)
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Cell Line
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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATP6V0D2


(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
plasma membrane5
vacuole5
endosome4
cytosol3
nucleus2
mitochondrion1

Gene Ontology (GO): Selected cellular component terms (see all 9):    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


(SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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SuperPaths for ATP6V0D2 About   (see all 13)                                                                                              See pathways by source

SuperPathContained pathways About
1Insulin receptor recycling
Insulin receptor recycling0.74
Collecting duct acid secretion0.66
Transferrin endocytosis and recycling0.74
Vibrio cholerae infection0.40
Iron uptake and transport0.70
Epithelial cell signaling in Helicobacter pylori infection0.32
2Insulin receptor signalling cascade
Signaling by Insulin receptor0.80
3Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
Oxidative phosphorylation0.64
4Signaling by GPCR
Signal Transduction0.58
5Synaptic vesicle cycle
Synaptic vesicle cycle0.50

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways


3 Reactome Pathways for ATP6V0D2
    Insulin receptor recycling
Phagosomal maturation (early endosomal stage)
Transferrin endocytosis and recycling


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


ATP6V0D2 for pathways           About GeneDecksing

    Pathway & Disease-focused RT2 Profiler PCR Array including ATP6V0D2: 
          Mitochondrial Energy Metabolism in human mouse rat

Interactions:

    Search GeneGlobe Interaction Network for ATP6V0D2

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

Selected Interacting proteins for ATP6V0D2 (ENSP000002853934) via UniProtKB, MINT, STRING, and/or I2D (see all 100)
InteractantInteraction Details
GeneCardExternal ID(s)
ATP5A1ENSP000002820504STRING: ENSP00000282050
ATP5BENSP000002620304STRING: ENSP00000262030
ATP5C1ENSP000003491424STRING: ENSP00000349142
ATP5DENSP000002153754STRING: ENSP00000215375
ATP5EENSP000002439974STRING: ENSP00000243997
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Gene Ontology (GO): Selected biological process terms (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



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

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--



(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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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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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Block miRNA regulation of human, mouse, rat ATP6V0D2 using miScript Target Protectors
Selected qRT-PCR 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 plasmidATP6V0D2 3' UTR sequence
Inhib. RNA
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GenScript: all cDNA clones in your preferred vector: ATP6V0D2 (NM_152565)
DNA2.0 Custom Codon Optimized Gene Synthesis Service for ATP6V0D2
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATP6V0D2
Primer
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OriGene qPCR primer pairs and template standards for ATP6V0D2
OriGene qSTAR qPCR primer pairs in human, mouse for ATP6V0D2
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ATP6V0D2
  QuantiTect SYBR Green Assays in human, mouse, rat ATP6V0D2
  QuantiFast Probe-based Assays in human, mouse, rat ATP6V0D2

Additional mRNA sequence: 

AK096027.1 AY079172.1 BC065207.1 

2 DOTS entries:

DT.40128048  DT.99944955 

Selected AceView cDNA sequences (see all 27):

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

GeneLoc Exon Structure


(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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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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
 selected tissues (see all 4) fully expand
 
 Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
         Human embryonic stem cells (family)
 
 Ovary (Reproductive System)
         Cumulus Cells Antral Follicle
 
 Bone (Muscoskeletal System)
         Zeugopod Periosteum
 
 Kidney (Urinary System)
ATP6V0D2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

ATP6V0D2 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.436360

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

    Pathway & Disease-focused RT2 Profiler PCR Array including ATP6V0D2: 
          Mitochondrial Energy Metabolism in human mouse rat

Primer
Products:
OriGene qPCR primer pairs and template standards for ATP6V0D2
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QuantiTect SYBR Green Assays in human, mouse, rat ATP6V0D2
QuantiFast Probe-based Assays in human, mouse, rat ATP6V0D2
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATP6V0D2

(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)
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This gene was present in the common ancestor of eukaryotes.

Orthologs for ATP6V0D2 gene from Selected species (see all 16)    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 71.77(n)
71.68(a)
  420210  NM_001008455.1  NP_001008455.1 
lizard
(Anolis carolinensis)
Reptilia ATP6V0D26
ATPase, H+ transporting, lysosomal 38kDa, V0 subun...
72(a)
1 ↔ 1
4(22906921-22925500)
tropical clawed frog
(Xenopus tropicalis)
Amphibia atp6v0d21 ATPase, H+ transporting, lysosomal 38kDa, V0 subunit more 69.53(n)
69.91(a)
  394992  NM_204031.1  NP_989362.1 
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 (vha-16) mRNA, complete cds
61(a)
1 → many
I(5079910-5082279) WBGene00016258
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VMA66
Subunit d of the five-subunit V0 integral membrane...
43(a)
1 → many
XII(1026856-1027893) YLR447C
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 according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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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



(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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for ATP6V0D2 (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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(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.)
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6 diseases for ATP6V0D2:    About MalaCards
osteopetrosis    renal tubular acidosis    cholera    tuberculosis
rheumatoid arthritis    arthritis


ATP6V0D2 for disorders           About GeneDecksing


Export disorders for ATP6V0D2 gene to outside databases

(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)
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PubMed articles for ATP6V0D2 gene, integrated from 10 sources (see all 16):
(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. (Gene 2002)
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 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. (Pharmacogenomics 2012)
  4. Toward an understanding of the protein interaction network of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (Mol. Syst. Biol. 2011)
  5. Large-scale proteomics and phosphoproteomics of urinary exosomes. (PubMed id 19056867)1 Gonzales P.A....Knepper M.A. (J. Am. Soc. Nephrol. 2009)
  6. Adrm1 interacts with Atp6v0d2 and regulates osteoclast differentiation. (PubMed id 19818731)1 Kim T....Choi Y. (Biochem. Biophys. Res. Commun. 2009)
  7. The d subunit plays a central role in human vacuolar H(+)-ATPases. (PubMed id 18752060)1 Smith A.N....Karet F.E. (J. Bioenerg. Biomembr. 2008)
  8. Coupling of rotation and catalysis in F(1)-ATPase revealed by single-molecule imaging and manipulation. (PubMed id 17662945)1 Adachi K....Kinosita K. (Cell 2007)
  9. Vacuolar H+-ATPase d2 subunit: molecular characterization, developmental regulation, and localization to specialized proton pumps in kidney and bone. (PubMed id 15800125)1 Smith A.N....Karet F.E. (J. Am. Soc. Nephrol. 2005)
  10. 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. (Genome Res. 2004)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

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

(According to HUGE)
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  --

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

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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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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