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ATP6V0A2 Gene

protein-coding   GIFtS: 66
GCID: GC12P124196

ATPase, H+ Transporting, Lysosomal V0 Subunit A2

(Previous names: infantile malignant osteopetrosis, ATPase, H+ transporting,...)
  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 V0 Subunit A21 2     RTF2
Lysosomal H(+)-Transporting ATPase V0 Subunit A22 3     STV12
TJ62 3     TJ6M2
ARCL2A2 5     TJ6S2
WSS2 5     VPH12
ATPase, H+ Transporting, Lysosomal V0 Subunit A Isoform 21     Regeneration And Tolerance Factor2
Infantile Malignant Osteopetrosis1     V-ATPase 116 KDa2
A22     V-Type Proton ATPase 116 KDa Subunit A2
A2V-ATPase2     V-Type Proton ATPase 116 KDa Subunit A Isoform 22
ARCL2     Vacuolar Proton Translocating ATPase 116 KDa Subunit A2
ATP6A22     V-ATPase 116 KDa Isoform A23
ATP6N1D2     Vacuolar Proton Translocating ATPase 116 KDa Subunit A Isoform 23
J6B72     

External Ids:    HGNC: 184811   Entrez Gene: 235452   Ensembl: ENSG000001853447   OMIM: 6117165   UniProtKB: Q9Y4873   

Export aliases for ATP6V0A2 gene to outside databases

Previous GC identifers: GC12P122772 GC12U900035 GC12P123920 GC12P122550 GC12P122549 GC12P122721 GC12P122762 GC12P121158


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ATP6V0A2 Gene:
The protein encoded by this gene is a subunit of the vacuolar ATPase (v-ATPase), an heteromultimeric enzyme that
is present in intracellular vesicles and in the plasma membrane of specialized cells, and which is essential for
the acidification of diverse cellular components. V-ATPase is comprised of a membrane peripheral V(1) domain for
ATP hydrolysis, and an integral membrane V(0) domain for proton translocation. The subunit encoded by this gene
is a component of the V(0) domain. Mutations in this gene are a cause of both cutis laxa type II and wrinkly skin
syndrome. (provided by RefSeq, Jul 2009)

GeneCards Summary for ATP6V0A2 Gene:
ATP6V0A2 (ATPase, H+ transporting, lysosomal V0 subunit a2) is a protein-coding gene. Diseases associated with ATP6V0A2 include cutis laxa, autosomal recessive type 2a, and atp6v0a2-related cutis laxa. GO annotations related to this gene include hydrogen ion transmembrane transporter activity. An important paralog of this gene is TCIRG1.

UniProtKB/Swiss-Prot: VPP2_HUMAN, Q9Y487
Function: Part of the proton channel of V-ATPases. Essential component of the endosomal pH-sensing machinery. May
play a role in maintaining the Golgi functions, such as glycosylation maturation, by controlling the Golgi pH

summary for ATP6V0A2 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.

Gene Wiki entry for ATP6V0A2 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000012.12  NT_029419.13  NC_018923.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ATP6V0A2 gene promoter:
         GR   Nkx2-2   MyoD   HNF-1A   C/EBPalpha   E47   CHOP-10   HNF-1   Hand1   ZID   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidATP6V0A2 promoter sequence
   Search Chromatin IP Primers for ATP6V0A2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ATP6V0A2


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

Entrez Gene cytogenetic band: 12q24.31   Ensembl cytogenetic band:  12q24.31   HGNC cytogenetic band: 12q24.31

ATP6V0A2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATP6V0A2 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P124196:  view genomic region     (about GC identifiers)

Start:
124,196,865 bp from pter      End:
124,246,302 bp from pter
Size:
49,438 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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: VPP2_HUMAN, Q9Y487 (See protein sequence)
Recommended Name: V-type proton ATPase 116 kDa subunit a isoform 2  
Size: 856 amino acids; 98082 Da
Subunit: The V-ATPase is a heteromultimeric enzyme composed of at least thirteen different subunits. It has a
membrane peripheral V1 sector for ATP hydrolysis and an integral V0 for proton translocation. The V1 sector
comprises subunits A-H, whereas V0 includes subunits a, d, c, c', and c''. Directly interacts with PSCD2 through
its N-terminal cytosolic tail in an intra-endosomal acidification-dependent manner. Disruption of this
interaction results in the inhibition of endocytosis
Caution: The N-terminus peptide may increase IL1B secretion by peripheral blood monocytes; however as this region
is probably in the cytosol, the in vivo relevance of this observation needs to be confirmed
Secondary accessions: A8K026 Q6NUM0

Explore the universe of human proteins at neXtProt for ATP6V0A2: NX_Q9Y487

Explore proteomics data for ATP6V0A2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys92, Lys172, Lys279, Lys363, Lys374
  • Modification sites at PhosphoSitePlus

  • See ATP6V0A2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_036595.2  
    ENSEMBL proteins: 
     ENSP00000332247   ENSP00000443441   ENSP00000443726   ENSP00000441143  
    Reactome Protein details: Q9Y487

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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: a2
    V-type ATPase

    2 InterPro protein domains:
     IPR002490 V-ATPase_116kDa_su
     IPR026028 V-type_ATPase_116kDa_su_euka

    Graphical View of Domain Structure for InterPro Entry Q9Y487

    ProtoNet protein and cluster: Q9Y487

    1 Blocks protein domain: IPB002490 V-type ATPase

    UniProtKB/Swiss-Prot: VPP2_HUMAN, Q9Y487
    Similarity: Belongs to the V-ATPase 116 kDa subunit family


    ATP6V0A2 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: VPP2_HUMAN, Q9Y487
    Function: Part of the proton channel of V-ATPases. Essential component of the endosomal pH-sensing machinery. May
    play a role in maintaining the Golgi functions, such as glycosylation maturation, by controlling the Golgi pH

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI16415858
    GO:0015078hydrogen ion transmembrane transporter activity IEA--
         
    ATP6V0A2 for ontologies           About GeneDecksing


    Animal Models:
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    (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 UniProtKB/Swiss-Prot
    VPP2_HUMAN, Q9Y487: Cell membrane; Multi-pass membrane protein. Endosome membrane. Note=In kidney proximal
    tubules, also detected in subapical vesicles (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endosome5
    plasma membrane5
    cytosol3
    vacuole2
    extracellular1
    golgi apparatus1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000220vacuolar proton-transporting V-type ATPase, V0 domain IEA--
    GO:0001669acrosomal vesicle IEA--
    GO:0005737cytoplasm IDA--
    GO:0005765lysosomal membrane IDA17897319
    GO:0005886plasma membrane IDA--

    ATP6V0A2 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 ATP6V0A2 About   (see all 12)  
    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 ATP6V0A2
        Insulin receptor recycling
    Phagosomal maturation (early endosomal stage)
    Transferrin endocytosis and recycling


    Selected Kegg Pathways  (Kegg details for ATP6V0A2) (see all 10):
        Oxidative phosphorylation
    Metabolic pathways
    Lysosome
    Phagosome
    Synaptic vesicle cycle


    ATP6V0A2 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including ATP6V0A2: 
              Mitochondrial Energy Metabolism in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for ATP6V0A2

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

    Selected Interacting proteins for ATP6V0A2 (Q9Y4871, 3 ENSP000003322474) via UniProtKB, MINT, STRING, and/or I2D (see all 77)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CYTH2Q994181, 3, ENSP000004082364EBI-988630,EBI-448974 I2D: score=4 STRING: ENSP00000408236
    ATP6V0A1ENSP000002646494STRING: ENSP00000264649
    ATP6V0A4ENSP000002538564STRING: ENSP00000253856
    ATP6V1AENSP000002733984STRING: ENSP00000273398
    ATP6V1B1ENSP000002343964STRING: ENSP00000234396
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006879cellular iron ion homeostasis TAS--
    GO:0006955immune response TAS2247090
    GO:0008286insulin receptor signaling pathway TAS--
    GO:0015991ATP hydrolysis coupled proton transport IEA--
    GO:0033572transferrin transport TAS--

    ATP6V0A2 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
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    Compounds for ATP6V0A2 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 ATP6V0A2    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,
    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 ATP6V0A2 gene: 
    NM_012463.3  

    Unigene Cluster for ATP6V0A2:

    ATPase, H+ transporting, lysosomal V0 subunit a2
    Hs.25786  [show with all ESTs]
    Unigene Representative Sequence: NM_012463
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000330342(uc001ufr.3) ENST00000540368(uc001ufq.1) ENST00000504192
    ENST00000545059 ENST00000536426 ENST00000534943 ENST00000544833 ENST00000543687

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    hsa-miR-548j hsa-miR-361-5p hsa-miR-607 hsa-miR-136 hsa-miR-429 hsa-miR-188-5p hsa-miR-300 hsa-miR-605
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    Additional mRNA sequence: 

    AF112972.1 AK056800.1 AK289391.1 AK298778.1 BC000826.1 BC022300.1 BC068531.1 

    10 DOTS entries:

    DT.309415  DT.209260  DT.100815544  DT.445323  DT.121124070  DT.100711835  DT.86837312  DT.100700479 
    DT.75101655  DT.91808283 

    Selected AceView cDNA sequences (see all 180):

    AI791750 AA983190 BI012296 CB117213 BE465357 BX280509 AI820609 BQ935563 
    AA341774 NM_012463 BQ936928 AI690142 AA989502 BC009112 AI261281 NM_024809 
    AA436101 AI792006 BF508078 BI764686 BM015513 AL701278 CA454893 AW274828 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for ATP6V0A2    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b · 19c ^ 20 ^ 21 ^ 22
    SP1:                                                              -     -                                         -           -                                 
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                    -                                       


    ECgene alternative splicing isoforms for ATP6V0A2

    (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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    ATP6V0A2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGCTGAACAG
    ATP6V0A2 Expression
    About this image

    ATP6V0A2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ATP6V0A2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.25786
        Pathway & Disease-focused RT2 Profiler PCR Array including ATP6V0A2: 
              Mitochondrial Energy Metabolism in human mouse rat

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    In Situ
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    (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 ATP6V0A2 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Atp6v0a21 , 5 ATPase, H+ transporting, lysosomal V0 subunit A21, 5 84.23(n)1
    91.59(a)1
      5 (63.70 cM)5
    218711  NM_011596.51  NP_035726.21 
     1246290675 
    chicken
    (Gallus gallus)
    Aves ATP6V0A21 ATPase, H+ transporting, lysosomal V0 subunit a2 72.32(n)
    73.44(a)
      395473  NM_204723.1  NP_990054.1 
    lizard
    (Anolis carolinensis)
    Reptilia ATP6V0A26
    ATPase, H+ transporting, lysosomal V0 subunit a2
    77(a)
    1 ↔ 1
    LGb(1707177-1719598)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia BQ522242.12   -- 75.79(n)    BQ522242.1 
    zebrafish
    (Danio rerio)
    Actinopterygii atp6v0a2b1 ATPase, H+ transporting, lysosomal V0 subunit a2b 66.55(n)
    69.56(a)
      561117  NM_001122747.2  NP_001116219.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Vha100-23 hydrogen-transporting two-sector
    ATPase
    44(a)
    (best of 2)
      91A5   --
    worm
    (Caenorhabditis elegans)
    Secernentea vha-53 hydrogen ion transport 39(a)
    (best of 2)
      IV(8304181-8307239)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes VPH16
    STV16
    Subunit a of vacuolar-ATPase V0 domain, one of two...
    Subunit a of the vacuolar-ATPase V0 domain, one of...
    36(a)
    34(a)
    many ↔ many
    many ↔ many
    XV(828052-830574) YOR270C
    XIII(383303-385975) YMR054W
    soybean
    (Glycine max)
    eudicotyledons Gma.125182 Transcribed sequence with weak similarity to protein more 71.76(n)  


    ENSEMBL Gene Tree for ATP6V0A2 (if available)
    TreeFam Gene Tree for ATP6V0A2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ATP6V0A2 gene
    TCIRG12  ATP6V0A42  ATP6V0A12  
    5 SIMAP similar genes for ATP6V0A2 using alignment to 5 protein entries:     VPP2_HUMAN (see all proteins):
    DKFZp781J1951    ATP6V0A1    ATP6V0A4    TCIRG1    DKFZp686N0561

    ATP6V0A2 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 ATP6V0A2 (see all 1177)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs803567501,2
    Cpathogenic1124017867(+) TAGAGC/TGAATA 2 R * stg10--------
    rs803567581,2
    Cpathogenic1124053718(+) ACGCAC/TGTAAG 2 Q * stg10--------
    rs1811123381,2
    Cuntested1124027042(+) ACCATC/TGTGTC 2 I syn10--------
    rs79694101,2,,4
    C,F,Huntested1124050409(+) GAACCG/AGGTAA 2 /Q /R mis19Minor allele frequency- A:0.01NS EA NA 5738
    rs178834561,2,,4
    C,Funtested1124056139(+) TTCTGC/TGTTTC 2 A V mis1 ese36Minor allele frequency- T:0.02NS NA EU 6400
    rs1481187211,2
    C--121163059(+) TCTTT-/CTTTTT 1 -- int10--------
    rs113266011,2
    C,F--121169978(+) AATACA/-AAAAA 1 -- int13Minor allele frequency- -:0.33NA CSA 6
    rs342213631,2
    C--121171401(+) AAAAA-/AGAAAA 1 -- int12Minor allele frequency- A:0.25NA 4
    rs342473731,2
    C--121174001(+) CTGGC-/TTTTTT 1 -- int10--------
    rs342483331,2
    C--121203158(+) GGGAC-/AAGAGCG 1 -- int10--------

    HapMap Linkage Disequilibrium report for ATP6V0A2 (124196865 - 124246302 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for ATP6V0A2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2274657CNV Deletion18987734
    esv2746510CNV Deletion23290073
    esv2746512CNV Deletion23290073
    esv2746511CNV Deletion23290073
    esv993337CNV Deletion20482838
    esv2619454CNV Insertion19546169
    esv1436194CNV Insertion17803354
    nsv832534CNV Loss17160897

    Human Gene Mutation Database (HGMD): ATP6V0A2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ATP6V0A2
    DNA2.0 Custom Variant and Variant Library Synthesis for ATP6V0A2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 611716   
    OMIM disorders: 219200  278250  
    UniProtKB/Swiss-Prot: VPP2_HUMAN, Q9Y487
  • Cutis laxa, autosomal recessive, 2A (ARCL2A) [MIM:219200]: A disorder characterized by an excessive
    congenital skin wrinkling, a large fontanelle with delayed closure, a typical facial appearance with downslanting
    palpebral fissures, a general connective tissue weakness, and varying degrees of growth and developmental delay
    and neurological abnormalities. Some affected individuals develop seizures and mental deterioration later in
    life, whereas the skin phenotype tends to become milder with age. At the molecular level, an abnormal
    glycosylation of serum proteins is observed in many cases. Note=The disease is caused by mutations affecting the
    gene represented in this entry
  • Wrinkly skin syndrome (WSS) [MIM:278250]: A rare autosomal recessive disorder characterized by wrinkling
    of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled
    abdominal skin, multiple musculoskeletal abnormalities, microcephaly, growth failure and developmental delay.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 18 diseases for ATP6V0A2:    
    About MalaCards
    cutis laxa, autosomal recessive type 2a    atp6v0a2-related cutis laxa    lichen nitidus    osteopetrosis
    wrinkly skin syndrome    cutis laxa    vesiculitis    renal tubular acidosis
    microcephaly    choriocarcinoma    cholera    atherosclerosis
    tuberculosis    pneumonia    rheumatoid arthritis    arthritis
    multiple myeloma    myeloma

    2 diseases from the University of Copenhagen DISEASES database for ATP6V0A2:
    Osteopetrosis     Cutis laxa

    ATP6V0A2 for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for ATP6V0A2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    miscarriage 43.1 5 8739450 (2), 7513260 (1)
    atherosclerosis 18.7 2 1908160 (2)

    GeneTests: ATP6V0A2
    GeneReviews: ATP6V0A2
    Genetic Association Database (GAD): ATP6V0A2

    Export disorders for ATP6V0A2 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 ATP6V0A2 gene, integrated from 10 sources (see all 50):
    (articles sorted by number of sources associating them with ATP6V0A2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. (PubMed id 18157129)1, 2, 3 Kornak U.... Mundlos S. (Nat. Genet. 2008)
    2. The N-terminus domain of the a2 isoform of vacuolar ATPase can regulate interleukin-1beta production from mononuclear cells in co- culture with JEG-3 choriocarcinoma cells. (PubMed id 17295899)1, 2, 9 Ntrivalas E.... Beaman K. (Am. J. Reprod. Immunol. 2007)
    3. Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals. (PubMed id 22479202)1, 4 Dastani Z....Kathiresan S. (PLoS Genet. 2012)
    4. V-ATPase interacts with ARNO and Arf6 in early endosomes and regulates the protein degradative pathway. (PubMed id 16415858)1, 2 Hurtado-Lorenzo A.... Marshansky V. (Nat. Cell Biol. 2006)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. Cloning of a cDNA for a T cell produced molecule with a putative immune regulatory role. (PubMed id 2247090)1, 3 Lee C....Beaman K.D. (Mol. Immunol. 1990)
    7. Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa. (PubMed id 19171192)1, 9 Guillard M....Wevers R.A. (Biochim. Biophys. Acta 2009)
    8. Cloning, expression and functional characterization of the putative regeneration and tolerance factor (RTF/TJ6) as a functional vacuolar ATPase proton pump regulatory subunit with a conserved sequence of immunoreceptor tyrosine-based activation motif. (PubMed id 16113235)1, 9 Babichev Y....Isakov N. (Int. Immunol. 2005)
    9. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    10. Proteome-wide identification of ubiquitylation sites by conjugation of engineered lysine-less ubiquitin. (PubMed id 22053931)1 Oshikawa K....Nakayama K.I. (J. Proteome Res. 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 23545 HGNC: 18481 AceView: ATP6V0A2andFLJ12975 Ensembl:ENSG00000185344 euGenes: HUgn23545
    ECgene: ATP6V0A2 Kegg: 23545 H-InvDB: ATP6V0A2

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for ATP6V0A2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ATP6V0A2[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ATP6V0A2 gene:
    Search GeneIP for patents involving ATP6V0A2

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



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