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

ATP6V0A2 Gene

protein-coding   GIFtS: 66
GCID: GC12P124196

ATPase, H+ Transporting, Lysosomal V0 Subunit A2

(Previous names: infantile malignant osteopetrosis, ATPase, H+ transporting,...)
Microbiology & Infectious Diseases Congress
  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)
About This Section

Aliases
ATPase, H+ Transporting, Lysosomal V0 Subunit A21 2     RTF2
Lysosomal H(+)-Transporting ATPase V0 Subunit A22 3     STV12
TJ62 3     TJ6M2
ARCL2 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
ARCL2A2     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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 atp6v0a2-related cutis laxa, and cutis laxa, autosomal recessive type 2a, 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 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NT_009755.19  NC_018923.2  
Regulatory elements:
   SABiosciences 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
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Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: 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
Subcellular location: Cell membrane; Multi-pass membrane protein. Endosome membrane. Note=In kidney proximal
tubules, also detected in subapical vesicles (By similarity)
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9Y487

  • ATP6V0A2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ATP6V0A2 Protein Expression
    REFSEQ proteins: NP_036595.2  
    ENSEMBL proteins: 
     ENSP00000332247   ENSP00000443441   ENSP00000443726   ENSP00000441143  
    Reactome Protein details: Q9Y487
    Human Recombinant Protein Products for ATP6V0A2: 
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    Cloud-Clone Corp. Proteins for ATP6V0A2 

    Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (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



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    (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: a2 
    V-type ATPase

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

    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,
    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: 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 (GO ID links to tree view):    About this table

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


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    (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 ATP6V0A2 About   (see all 12)                                                                                              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 ATP6V0A2 (see all 9)
        Insulin receptor recycling
    Phagosomal maturation (early endosomal stage)
    Latent infection of Homo sapiens with Mycobacterium tuberculosis
    Iron uptake and transport
    Disease


    5/10         Kegg Pathways  (Kegg details for ATP6V0A2) (see all 10):
        Oxidative phosphorylation
    Metabolic pathways
    Lysosome
    Phagosome
    Synaptic vesicle cycle


    ATP6V0A2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ATP6V0A2

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

    5/59 Interacting proteins for ATP6V0A2 (Q9Y4871, 3 ENSP000003322474) via UniProtKB, MINT, STRING, and/or I2D (see all 59)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CYTH2Q994181, 3, ENSP000004082364EBI-988630,EBI-448974 I2D: score=4 STRING: ENSP00000408236
    ATP6V0A1ENSP000002646494STRING: ENSP00000264649
    ATP6V0A4ENSP000002538564STRING: ENSP00000253856
    ATP6V1HENSP000003525224STRING: ENSP00000352522
    INS-IGF2ENSP000003489864STRING: ENSP00000348986
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (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 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 ATP6V0A2:
    Small Molecule - inhibitor
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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--

    Search CenterWatch for drugs/clinical trials and news about ATP6V0A2 / VPP2

    (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 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

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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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 

    24/180 AceView cDNA sequences (see all 180):

    BQ050095 BQ935563 AA436101 NM_024809 AI690142 BF439825 AI261281 NM_012463 
    BI764686 BQ936928 AI791750 AI792006 BM015513 AL701278 AW444520 BF508078 
    CA454893 BC068531 AW850381 AA983190 AW850281 CB117213 BX280509 AI820609 

    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™, 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

    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


    See ATP6V0A2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ATP6V0A2

    SOURCE GeneReport for Unigene cluster: Hs.25786
        SABiosciences Expression via Pathway-Focused PCR Array including ATP6V0A2: 
              Mitochondrial Energy Metabolism in human mouse rat

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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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ATP6V0A2 gene from 8/15 species (see all 15)    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_011596.41  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
    Uncharacterized protein
    77(a)
    1 ↔ 1
    LGb(1707177-1719598)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia BQ522242.12   -- 75.79(n)    BQ522242.1 
    zebrafish
    (Danio rerio)
    Actinopterygii si:ch211-106a19.21 si:ch211-106a19.2 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   --
    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)
    33(a)
    many ↔ many
    many ↔ many
    XV(828052-830574)
    XIII(383303-385975)
    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)
    About This Section
    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) 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

    10/1177 SNPs in ATP6V0A2 are shown (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
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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]: 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

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

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

    ATP6V0A2 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    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)
    About This Section

    PubMed articles for ATP6V0A2 gene, integrated from 9 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. (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. (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. (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. (2006)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (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. (1990)
    7. Vacuolar H+-ATPase meets glycosylation in patients wi th cutis laxa. (PubMed id 19171192)1, 9 Guillard M....Wevers R.A. (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. (2005)
    9. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    10. Proteome-wide identification of ubiquitylation sites b y conjugation of engineered lysine-less ubiquitin. (PubMed id 22053931)1 Oshikawa K....Nakayama K.I. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 23545 HGNC: 18481 AceView: ATP6V0A2andFLJ12975 Ensembl:ENSG00000185344 euGenes: HUgn23545
    ECgene: ATP6V0A2 Kegg: 23545 H-InvDB: ATP6V0A2

    (According to HUGE)
    About This Section
      --

    (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 ATP6V0A2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ATP6V0A2

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