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

ATP6V0B Gene

protein-coding   GIFtS: 63
GCID: GC01P044440

ATPase, H+ Transporting, Lysosomal 21kDa, V0 Subunit B

(Previous names: ATPase, H+ transporting, lysosomal (vacuolar proton pump)...)
(Previous symbol: ATP6F)
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 21kDa, V0 Subunit B1 2     VMA162
ATP6F1 2 3 5     H(+)-Transporting Two-Sector ATPase, Subunit F2
Vacuolar Proton Pump 21 KDa Proteolipid Subunit2 3     V-ATPase Subunit C''2
V-ATPase 21 KDa Proteolipid Subunit2 3     V-Type Proton ATPase 21 KDa Proteolipid Subunit2
ATPase, H+ Transporting, Lysosomal (Vacuolar Proton Pump) 21kD1     Vacuolar ATP Synthase 21 KDa Proteolipid Subunit2
ATPase, H+ Transporting, Lysosomal 21kDa, V0 Subunit C''1     Vacuolar Proton Pump, 21 KDa Subunit2
HATPL2     hATPL3

External Ids:    HGNC: 8611   Entrez Gene: 5332   Ensembl: ENSG000001174107   OMIM: 6037175   UniProtKB: Q994373   

Export aliases for ATP6V0B gene to outside databases

Previous GC identifers: GC01P044278 GC01P043441 GC01P043870 GC01P043853 GC01P044109 GC01P044213 GC01P042556


(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 ATP6V0B Gene:
This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of
eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such
intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic
vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain.
The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The
V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and
d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively
spliced transcript variants. This encoded protein is part of the transmembrane V0 domain and is the human
counterpart of yeast VMA16. Two alternatively spliced transcript variants that encode different proteins have
been found for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for ATP6V0B Gene: 
ATP6V0B (ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b) is a protein-coding gene. Diseases associated with ATP6V0B include cannabis abuse, and osteopetrosis, 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 transporter activity.

UniProtKB/Swiss-Prot: VATO_HUMAN, Q99437
Function: Proton-conducting pore forming subunit of the membrane integral V0 complex of vacuolar ATPase. V-ATPase
is responsible for acidifying a variety of intracellular compartments in eukaryotic cells

summary for ATP6V0B 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 ATP6V0B 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_000001.10  NT_032977.9  NC_018912.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ATP6V0B gene promoter:
         E2F-4   E2F-3a   E2F-5   E2F-2   GATA-2   c-Ets-1   FAC1   Ik-2   E2F   E2F-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidATP6V0B promoter sequence
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Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ATP6V0B


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

Entrez Gene cytogenetic band: 1p32.3   Ensembl cytogenetic band:  1p34.1   HGNC cytogenetic band: 1p32.3

ATP6V0B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATP6V0B gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P044440:  view genomic region     (about GC identifiers)

Start:
44,440,159 bp from pter      End:
44,443,972 bp from pter
Size:
3,814 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: VATO_HUMAN, Q99437 (See protein sequence)
Recommended Name: V-type proton ATPase 21 kDa proteolipid subunit  
Size: 205 amino acids; 21406 Da
Subunit: Interacts with IFITM3 (By similarity)
Subcellular location: Vacuole membrane; Multi-pass membrane protein
Secondary accessions: D3DPY5 Q6IB32
Alternative splicing: 2 isoforms:  Q99437-1   Q99437-2   (No experimental confirmation available. Gene prediction based on EST data)

Explore the universe of human proteins at neXtProt for ATP6V0B: NX_Q99437

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q99437

  • ATP6V0B Protein expression data from MOPED1, PaxDb2 and MAXQB3 : --
    REFSEQ proteins (2 alternative transcripts): 
    NP_001034546.1  NP_004038.1  

    ENSEMBL proteins: 
     ENSP00000432994   ENSP00000431605   ENSP00000434729   ENSP00000236067   ENSP00000432754  
     ENSP00000435396   ENSP00000431375   ENSP00000434094  
    Reactome Protein details: Q99437
    Human Recombinant Protein Products for ATP6V0B: 
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    Cloud-Clone Corp. Proteins for ATP6V0B 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005768endosome ----
    GO:0005774vacuolar membrane IEA--
    GO:0010008endosome membrane TAS--
    GO:0016021integral to membrane IEA--
    GO:0030670phagocytic vesicle membrane TAS--

    ATP6V0B 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: b 
    V-type ATPase

    2 InterPro protein domains:
     IPR002379 ATPase_proteolipid_c_like_dom
     IPR000245 ATPase_proteolipid_csu

    Graphical View of Domain Structure for InterPro Entry Q99437

    ProtoNet protein and cluster: Q99437

    1 Blocks protein domain: IPB000245 Vacuolar ATP synthase 16kD subunit signature

    UniProtKB/Swiss-Prot: VATO_HUMAN, Q99437
    Similarity: Belongs to the V-ATPase proteolipid subunit family


    ATP6V0B 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: VATO_HUMAN, Q99437
    Function: Proton-conducting pore forming subunit of the membrane integral V0 complex of vacuolar ATPase. V-ATPase
    is responsible for acidifying a variety of intracellular compartments in eukaryotic cells

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005215transporter activity TAS9653649
    GO:0015078hydrogen ion transmembrane transporter activity IEA--
         
    ATP6V0B for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ATP6V0B:
     Decreased influenza A virus in 

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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 ATP6V0B 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
    Vibrio cholerae infection0.41
    Iron uptake and transport0.69
    Epithelial cell signaling in Helicobacter pylori infection0.33
    Phagosomal maturation (early endosomal stage)0.64
    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 ATP6V0B (see all 9)
        Insulin receptor recycling
    Phagosomal maturation (early endosomal stage)
    Latent infection of Homo sapiens with Mycobacterium tuberculosis
    Iron uptake and transport
    Disease


    5/9         Kegg Pathways  (Kegg details for ATP6V0B) (see all 9):
        Oxidative phosphorylation
    Metabolic pathways
    Lysosome
    Phagosome
    Synaptic vesicle cycle


    ATP6V0B for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ATP6V0B

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

    5/67 Interacting proteins for ATP6V0B (Q994373 ENSP000002360674) via UniProtKB, MINT, STRING, and/or I2D (see all 67)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SNTA1Q134243I2D: score=1 
    ATP6V0D1ENSP000002909494STRING: ENSP00000290949
    ATP6V0D2ENSP000002853934STRING: ENSP00000285393
    ATP6V0E1ENSP000002650934STRING: ENSP00000265093
    ATP6V1AENSP000002733984STRING: ENSP00000273398
    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:0008286insulin receptor signaling pathway TAS--
    GO:0015991ATP hydrolysis coupled proton transport IEA--
    GO:0015992proton transport TAS9653649
    GO:0033572transferrin transport TAS--

    ATP6V0B 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 ATP6V0B:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for ATP6V0B 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]

    Search CenterWatch for drugs/clinical trials and news about ATP6V0B / VATO

    (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,
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    About This Section

    REFSEQ mRNAs for ATP6V0B gene (2 alternative transcripts): 
    NM_001039457.1  NM_004047.3  

    Unigene Cluster for ATP6V0B:

    ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b
    Hs.596514  [show with all ESTs]
    Unigene Representative Sequence: BE620790
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000472505 ENST00000472174(uc001cld.3 uc001cle.3) ENST00000532642
    ENST00000236067 ENST00000471859 ENST00000472277 ENST00000461670 ENST00000468183(uc001clf.3)
    ENST00000473485 ENST00000496131 ENST00000498208 ENST00000532072 ENST00000498664

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

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    Additional mRNA sequence: 

    BC000423.2 BC005876.2 BT007151.1 CR456972.1 D89052.1 L05089.1 

    12 DOTS entries:

    DT.219596  DT.99982695  DT.97860594  DT.100828184  DT.100828183  DT.219601  DT.121356786  DT.100654749 
    DT.97860599  DT.100828186  DT.91772781  DT.97860598 

    24/566 AceView cDNA sequences (see all 566):

    BU156500 CB241166 D81389 BQ218099 W58264 BQ679818 CA488365 BQ052083 
    BM709343 BC042664 CR615700 BE907385 BI006627 BM975485 BG747731 CA308148 
    BI517813 BM543483 BQ082755 AV656544 BQ685554 BQ083798 NM_004047 BQ679523 

    GeneLoc Exon Structure

    5/12 Alternative Splicing Database (ASD) splice patterns (SP) for ATP6V0B (see all 12)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b · 2c ^ 3a · 3b · 3c ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c · 8d ^ 9a · 9b · 9c
    SP1:                          -     -                 -                                   -                 -                       -                     
    SP2:                          -     -                 -                                   -                 -                                             
    SP3:                          -     -     -     -     -                                   -                 -                       -                     
    SP4:                                                  -                                   -                 -                                             
    SP5:                          -     -     -     -     -           -     -                 -                 -                                             


    ECgene alternative splicing isoforms for ATP6V0B

    (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

    ATP6V0B expression in normal human tissues (normalized intensities)      ATP6V0B embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTGGGGCTG
    ATP6V0B Expression
    About this image


    ATP6V0B expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/2 selected tissues (see all 2) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
             brain/forebrain/telencephalon   
     
     Neural Tube (Nervous System)
             Telencephalon

     -- (Nervous System)
             mouse/organ system/nervous system/central nervous system   

    Genevestigator expression for ATP6V0B

    SOURCE GeneReport for Unigene cluster: Hs.596514

    UniProtKB/Swiss-Prot: VATO_HUMAN, Q99437
    Tissue specificity: Ubiquitous

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATP6V0B

    (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 ATP6V0B gene from 10/29 species (see all 29)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Atp6v0b1 , 5 ATPase, H+ transporting, lysosomal V0 subunit B1, 5 89.59(n)1
    96.1(a)1
      4 (53.73 cM)5
    1141431  NM_033617.31  NP_291095.11 
     1178843265 
    chicken
    (Gallus gallus)
    Aves ATP6V0B1 ATPase, H+ transporting, lysosomal 21kDa, V0 subunit more 80.98(n)
    89.76(a)
      424575  XM_003641703.1  XP_003641751.1 
    lizard
    (Anolis carolinensis)
    Reptilia ATP6V0B6
    Uncharacterized protein
    88(a)
    1 ↔ 1
    4(108867023-108882319)
    African clawed frog
    (Xenopus laevis)
    Amphibia CD362016.12   -- 76.84(n)    CD362016.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb33a012 wufb33a01 78.25(n)   321724  BC058877.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta VhaPPA1-11 , 3 hydrogen-transporting two-sector
    ATPase3
    Vacuolar H[+] ATPase subunit PPA1-11
    63(a)
    (best of 2)3
    62.3(n)1
    64.92(a)1
      88D63
    452471  NM_143753.11  NP_652010.11 
    worm
    (Caenorhabditis elegans)
    Secernentea T01H3.13
    vha-41
    proteolipid protein PPA1 like protein3
    Protein VHA-41
    63(a)3
    60.57(n)1
    65.05(a)1
      II(7878204-7879374)3
    1742721  NM_063258.51  NP_495659.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes VMA16(YHR026W)4
    VMA161
    Subunit c'' of the vacuolar ATPase, which functions more4
    Vma16p1
    54.93(n)1
    56.98(a)1
      8(160844-161485)4
    8564211, 4  NP_011891.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT2G256101 V-type H+-transporting ATPase 21kDa proteolipid subunit 59.28(n)
    56.96(a)
      817101  NM_128119.1  NP_180132.1 
    rice
    (Oryza sativa)
    Liliopsida Os.205432 Oryza sativa (japonica cultivar-group) cDNA clone0 more 74.66(n)    AK104951.1 


    ENSEMBL Gene Tree for ATP6V0B (if available)
    TreeFam Gene Tree for ATP6V0B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ATP6V0B gene
    2 SIMAP similar genes for ATP6V0B using alignment to 6 protein entries:     VATO_HUMAN (see all proteins):
    ATP6F    ATP6V0C

    ATP6V0B 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

    10/83 SNPs in ATP6V0B are shown (see all 83)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0357034
    A breast cancer sample4--see VAR_0357032 V M mis40--------
    rs1142403601,2
    C,F--44439591(+) GCATCA/GGTCAT 2 -- us2k11Minor allele frequency- G:0.03WA 118
    rs1433790611,2
    --44439598(+) TCATGG/TGTTCT 2 -- us2k10--------
    rs1154837791,2
    C,F--44439717(+) TACTTA/CGTATG 2 -- us2k11Minor allele frequency- C:0.02NA 120
    rs24860081,2
    C,F,A,H--44439785(+) TTAAGC/TGGGGT 2 -- us2k1 tfbs325Minor allele frequency- T:0.20NS EA NA WA CSA 2354
    rs1513007541,2
    --44439939(+) ACGTTC/TAAAGA 2 -- us2k10--------
    rs1932524211,2
    --44440089(+) AGGGCA/GTTTCG 2 -- us2k10--------
    rs46607611,2
    C,F,A,H--44440146(+) ATCGCA/GGGAGC 2 -- us2k122Minor allele frequency- G:0.49NS EA NA CSA WA 2350
    rs1405294661,2
    --44440170(+) TTCCCA/TGCCAC 2 -- us2k10--------
    rs1836088811,2
    C--44440396(+) GCTGGC/TAGGGC 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for ATP6V0B (44440159 - 44443972 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for ATP6V0B:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv732CNV Insertion18451855
    nsv870606CNV Loss21882294
    dgv217n71CNV Loss21882294
    nsv822498CNV Gain20364138

    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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 603717    OMIM disorders: --

    10 diseases for ATP6V0B:    About MalaCards
    cannabis abuse    osteopetrosis    visceral leishmaniasis    leishmaniasis
    cholera    pneumonia    rheumatoid arthritis    arthritis
    tuberculosis    endotheliitis

    1 disease from the University of Copenhagen DISEASES database for ATP6V0B:
    Cannabis abuse

    ATP6V0B for disorders           About GeneDecksing


    Export disorders for ATP6V0B 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 ATP6V0B gene, integrated from 9 sources (see all 24):
    (articles sorted by number of sources associating them with ATP6V0B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and characterization of the gene encoding a second proteolipid subunit of human vacuolar H(+)-ATPase (ATP6F). (PubMed id 9653649)1, 2, 3, 9 Nishigori H.... Takeda J. (1998)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    3. The Identification of Novel Proteins That Interact Wit h the GLP-1 Receptor and Restrain its Activity. (PubMed id 23864651)1 Huang X....Wheeler M.B. (2013)
    4. Toward an understanding of the protein interaction net work of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (2011)
    5. 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)
    6. Physical interaction between aldolase and vacuolar H+-ATPase is essential for the assembly and activity of the proton pump. (PubMed id 17576770)1 Lu M....Gluck S.L. (2007)
    7. The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974)2 Sjoeblom T.... Velculescu V.E. (2006)
    8. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (2006)
    9. An improved method for the synthesis of cellulose membrane-bound peptides with free C termini is useful for PDZ domain binding studies. (PubMed id 15123239)1 Boisguerin P....Volkmer-Engert R. (2004)
    10. Plasmalemmal V-H(+)-ATPases regulate intracellular pH in human lung microvascular endothelial cells. (PubMed id 15249206)1 Rojas J.D....Martinez-Zaguilan R. (2004)

    (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)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 533 HGNC: 861 AceView: ATP6V0B Ensembl:ENSG00000117410 euGenes: HUgn533
    ECgene: ATP6V0B Kegg: 533 H-InvDB: ATP6V0B

    (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 ATP6V0B Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ATP6V0B gene:
    Search GeneIP for patents involving ATP6V0B

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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