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ATP6V1B2 Gene

protein-coding   GIFtS: 68
GCID: GC08P020054

ATPase, H+ Transporting, Lysosomal 56/58kDa, V1 Subunit...

(Previous names: ATPase, H+ transporting, lysosomal (vacuolar proton pump),...)
(Previous symbols: VPP3, ATP6B2)
  See ATP6V1B2-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 56/58kDa, V1 Subunit B21 2     ATPase, H+ Transporting, Lysosomal (Vacuolar Proton Pump), Beta
Polypeptide, 56/58kD, Isoform 21
ATP6B21 2 3 5     ATPase, H+ Transporting, Lysosomal 56/58kDa, V1 Subunit B, Isoform 21
VPP31 2 3 5     VATB2
Endomembrane Proton Pump 58 KDa Subunit2 3     Vma22
Vacuolar Proton Pump Subunit B 22 3     H+ Transporting Two-Sector ATPase2
HO572 3     V-ATPase B2 Subunit2
V-ATPase Subunit B 22 3     V-Type Proton ATPase Subunit B, Brain Isoform2
ATP6B1B22 5     Vacuolar H+-ATPase 56,000 Subunit2

External Ids:    HGNC: 8541   Entrez Gene: 5262   Ensembl: ENSG000001474167   OMIM: 6069395   UniProtKB: P212813   

Export aliases for ATP6V1B2 gene to outside databases

Previous GC identifers: GC08M019917 GC08P020117 GC08P019864 GC08P020064 GC08P020098 GC08P018594


(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 ATP6V1B2 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, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1
domain contains the ATP catalytic site. The protein encoded by this gene is one of two V1 domain B subunit
isoforms and is the only B isoform highly expressed in osteoclasts. (provided by RefSeq, Jul 2008)

GeneCards Summary for ATP6V1B2 Gene:
ATP6V1B2 (ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2) is a protein-coding gene. Diseases associated with ATP6V1B2 include villonodular synovitis, and pigmented villonodular synovitis. GO annotations related to this gene include hydrogen ion transmembrane transporter activity and proton-transporting ATPase activity, rotational mechanism. An important paralog of this gene is ATP6V1B1.

UniProtKB/Swiss-Prot: VATB2_HUMAN, P21281
Function: Non-catalytic subunit of the peripheral V1 complex of vacuolar ATPase. V-ATPase is responsible for
acidifying a variety of intracellular compartments in eukaryotic cells

summary for ATP6V1B2 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 ATP6V1B2 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 at NCBI GenBank:
NC_000008.10  NC_018919.2  NT_167187.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ATP6V1B2 gene promoter:
         Sox5   AML1a   NRSF form 1   Pax-4a   NRSF form 2   YY1   Evi-1   C/EBPalpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidATP6V1B2 promoter sequence
   Search Chromatin IP Primers for ATP6V1B2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ATP6V1B2


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

Entrez Gene cytogenetic band: 8p21.3   Ensembl cytogenetic band:  8p21.3   HGNC cytogenetic band: 8p21.3

ATP6V1B2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATP6V1B2 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P020054:  view genomic region     (about GC identifiers)

Start:
20,054,704 bp from pter      End:
20,084,330 bp from pter
Size:
29,627 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: VATB2_HUMAN, P21281 (See protein sequence)
Recommended Name: V-type proton ATPase subunit B, brain isoform  
Size: 511 amino acids; 56501 Da
Subunit: V-ATPase is a heteromultimeric enzyme composed of a peripheral catalytic V1 complex (main components:
subunits A, B, C, D, E, and F) attached to an integral membrane V0 proton pore complex (main component: the
proteolipid protein)
Secondary accessions: B2R5Z3 D3DSQ5 Q14544 Q15859 Q96IR0

Explore the universe of human proteins at neXtProt for ATP6V1B2: NX_P21281

Explore proteomics data for ATP6V1B2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys64, Lys109
  • Modification sites at PhosphoSitePlus

  • See ATP6V1B2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001684.2  
    ENSEMBL proteins: 
     ENSP00000276390   ENSP00000430154   ENSP00000428069   ENSP00000430682   ENSP00000430866  
    Reactome Protein details: P21281

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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: B2
    V-type ATPase

    Selected InterPro protein domains (see all 7):
     IPR000793 ATPase_F1/V1/A1-cplx_a/bsu_C
     IPR004100 ATPase_F1_a/bsu_N
     IPR022879 V-ATPase_su_B/beta
     IPR020003 ATPase_a/bsu_AS
     IPR000194 ATPase_F1/V1/A1_a/bsu_nucl-bd

    Graphical View of Domain Structure for InterPro Entry P21281

    ProtoNet protein and cluster: P21281

    1 Blocks protein domain: IPB000194 H+-transporting two-sector ATPase

    UniProtKB/Swiss-Prot: VATB2_HUMAN, P21281
    Similarity: Belongs to the ATPase alpha/beta chains family


    Find genes that share domains with ATP6V1B2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: VATB2_HUMAN, P21281
    Function: Non-catalytic subunit of the peripheral V1 complex of vacuolar ATPase. V-ATPase is responsible for
    acidifying a variety of intracellular compartments in eukaryotic cells

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005524ATP binding IEA--
    GO:0015078hydrogen ion transmembrane transporter activity TAS2145275
    GO:0016820hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances ----
    GO:0046961proton-transporting ATPase activity, rotational mechanism TAS2145275
         
    Find genes that share ontologies with ATP6V1B2           About GenesLikeMe


    Phenotypes:
         10 GenomeRNAi human phenotypes for ATP6V1B2:
     Decreased Salmonella enterica   Decreased Salmonella enterica   Decreased Salmonella enterica   Decreased Salmonella enterica  
     Decreased Salmonella enterica   Decreased Salmonella-containin  Decreased influenza A H1N1 (A/  Decreased influenza A H1N1 (A/ 
     Decreased influenza A/WSN/33 r  Increased cell number in G1, a 

         1 MGI phenotypic allele for Atp6v1b2 (no phenotypes)

    Find genes that share phenotypes with ATP6V1B2           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for ATP6V1B2

    miRNA
    Products:
        
    miRTarBase miRNAs that target ATP6V1B2:
    hsa-mir-30a-5p (MIRT028603), hsa-mir-16-5p (MIRT031775), hsa-let-7a-5p (MIRT052366), hsa-mir-503-5p (MIRT041130), hsa-mir-196a-5p (MIRT048184), hsa-mir-1 (MIRT003524), hsa-mir-125a-3p (MIRT038644), hsa-mir-320a (MIRT044823), hsa-mir-877-3p (MIRT037045)

    Block miRNA regulation of human, mouse, rat ATP6V1B2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ATP6V1B2 (see all 41):
    hsa-miR-323-3p hsa-miR-26a-2* hsa-miR-15a hsa-miR-25 hsa-miR-200a hsa-miR-16-1* hsa-miR-301a hsa-miR-570
    SwitchGear 3'UTR luciferase reporter plasmidATP6V1B2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ATP6V1B2

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATP6V1B2


    (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
    VATB2_HUMAN, P21281: Endomembrane system; Peripheral membrane protein. Melanosome. Note=Endomembrane. Identified
    by mass spectrometry in melanosome fractions from stage I to stage IV
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    golgi apparatus4
    plasma membrane4
    mitochondrion2
    extracellular1
    nucleus1

    Gene Ontology (GO): Selected cellular component terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005765lysosomal membrane IDA17897319
    GO:0005794Golgi apparatus ----
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane ISS--

    Find genes that share ontologies with ATP6V1B2           About GenesLikeMe


    (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 ATP6V1B2 About   (see all 10)  
    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


    Find genes that share SuperPaths with ATP6V1B2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    3 Reactome Pathways for ATP6V1B2
        Insulin receptor recycling
    Phagosomal maturation (early endosomal stage)
    Transferrin endocytosis and recycling


    Selected Kegg Pathways  (Kegg details for ATP6V1B2) (see all 8):
        Oxidative phosphorylation
    Metabolic pathways
    Phagosome
    Synaptic vesicle cycle
    Collecting duct acid secretion

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ATP6V1B2
    Interactions:

        Search GeneGlobe Interaction Network for ATP6V1B2

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

    Selected Interacting proteins for ATP6V1B2 (P212812, 3 ENSP000002763904) via UniProtKB, MINT, STRING, and/or I2D (see all 439)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=1 
    HIST1H4BP628053I2D: score=1 
    HIST1H4CP628053I2D: score=1 
    HIST1H4DP628053I2D: score=1 
    HIST1H4EP628053I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    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 TAS2145275
    GO:0033572transferrin transport TAS--

    Find genes that share ontologies with ATP6V1B2           About GenesLikeMe



    (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 ATP6V1B2 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 ATP6V1B2    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--

    2 DrugBank Compounds for ATP6V1B2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Gallium nitrate-- 13494-90-1targetinhibitor15206110 9144341 12776254
    4-(2-AMINOETHYL)BENZENESULFONYL FLUORIDE-- --target--10592235



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ATP6V1B2 gene: 
    NM_001693.3  

    Unigene Cluster for ATP6V1B2:

    ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2
    Hs.295917  [show with all ESTs]
    Unigene Representative Sequence: NM_001693
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000276390(uc003wzp.3) ENST00000523482 ENST00000523478 ENST00000520830
    ENST00000519667 ENST00000521442
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate ATP6V1B2 (see all 41):
    hsa-miR-323-3p hsa-miR-26a-2* hsa-miR-15a hsa-miR-25 hsa-miR-200a hsa-miR-16-1* hsa-miR-301a hsa-miR-570
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    Additional mRNA sequence: 

    AK294163.1 AK298819.1 AK312372.1 BC003100.1 BC007309.1 BC030640.2 L35249.1 X62949.1 

    19 DOTS entries:

    DT.449907  DT.95268936  DT.95268922  DT.100012644  DT.100827090  DT.100827085  DT.97854930  DT.100711231 
    DT.100827081  DT.100827086  DT.121474336  DT.100827089  DT.119460  DT.121474334  DT.121474351  DT.75181249 
    DT.97854931  DT.100827087  DT.121474388 

    Selected AceView cDNA sequences (see all 522):

    AU103928 CA449083 BM856820 CA867687 BM824483 BM693279 BM972666 CB240760 
    BE254444 AU123485 AA360394 X62949 CB156233 AA460105 BU166729 BM800714 
    CA436031 BU075665 AL554798 BE223058 AK127443 AU124853 BU731118 BQ433119 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for ATP6V1B2    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15
    SP1:                    -                                               -                                                   
    SP2:                    -                                               -                                                   
    SP3:                    -                                                                                                   
    SP4:                                                                                                                        
    SP5:                                      -                                                                                 


    ECgene alternative splicing isoforms for ATP6V1B2

    (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)
    About This Section

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    ATP6V1B2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATTATATTTT
    ATP6V1B2 Expression
    About this image


    ATP6V1B2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 10) fully expand
     
     Kidney (Urinary System)
             Intercalated Cells Renal Collecting Duct System
     
     Epithelial Cells
             Intercalated Cells Renal Collecting Duct System
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Midbrain tegmentum
     
     Eye (Sensory Organs)
             Lens
    ATP6V1B2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ATP6V1B2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.295917
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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 ATP6V1B2 gene from Selected species (see all 30)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Atp6v1b21 , 5 ATPase, H+ transporting, lysosomal V1 subunit B21, 5 89.43(n)1
    99.02(a)1
      8 (33.88 cM)5
    119661  NM_007509.31  NP_031535.21 
     690886465 
    chicken
    (Gallus gallus)
    Aves ATP6V1B21 ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit more 83.67(n)
    96(a)
      395497  XM_424534.4  XP_424534.3 
    lizard
    (Anolis carolinensis)
    Reptilia ATP6V1B26
    ATPase, H+ transporting, lysosomal 56/58kDa, V1 su...
    94(a)
    1 ↔ 1
    GL343238.1(976214-1002556)
    African clawed frog
    (Xenopus laevis)
    Amphibia vha55-prov2 ATPase, H+ transporting, lysosomal (vacuolar proton more 79.99(n)    BC046738.1 
    zebrafish
    (Danio rerio)
    Actinopterygii atp6v1bb2 ATPase, H+ transporting, lysosomal, V1 subunit B, member more 79.85(n)   359840  AF472615.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Vha551 , 3 proton transport hydrogen-transporting
    two-sector more3
    Vacuolar H[+]-ATPase 55kD B subunit1
    90(a)3
    72.92(n)1
    91.04(a)1
      3 87C23
    415501  NM_001170126.11  NP_001163597.11 
    worm
    (Caenorhabditis elegans)
    Secernentea vha-123
    spe-51
    vacuolar ATP synthase (strong)3
    spe-51
    85(a)
    (best of 2)3
    68.81(n)1
    79.42(a)1
      X(4226380-4228002)3
    1721371  NM_059117.11  NP_491518.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes VMA2(YBR127C)4
    VMA21
    Subunit B of the eight-subunit V1 peripheral membrane more4
    VMA21
    67.79(n)1
    80.55(a)1
      2(492822-491269)4
    8524241, 4  NP_009685.31  NP_009685.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G760301 AT1G76030 71.25(n)
    80.22(a)
      843934  NM_106251.4  NP_177729.1 
    rice
    (Oryza sativa)
    Liliopsida Os.15922 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 74.71(n)    NM_191702.1 


    ENSEMBL Gene Tree for ATP6V1B2 (if available)
    TreeFam Gene Tree for ATP6V1B2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ATP6V1B2 gene
    ATP6V1B12  
    2 SIMAP similar genes for ATP6V1B2 using alignment to 5 protein entries:     VATB2_HUMAN (see all proteins):
    ATP6B1    ATP6V1B1

    Find genes that share paralogs with ATP6V1B2           About GenesLikeMe


    2 Pseudogenes.org Pseudogenes for ATP6V1B2
    PGOHUM00000242323 PGOHUM00000236325


    (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 ATP6V1B2 (see all 635)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1842658331,2
    --20052814(+) GATCTG/TCTTTC 1 -- us2k10--------
    rs757645101,2
    C,F--20052842(+) CAGATG/AACTGA 1 -- us2k11Minor allele frequency- A:0.03EA 120
    rs1400858381,2
    --20052888(+) ATCTTC/TGTCTA 1 -- us2k10--------
    rs601326381,2
    C,F--20052889(+) TCTTCG/ATCTAG 1 -- us2k12Minor allele frequency- A:0.04WA 120
    rs78338651,2
    C,A--20052893(+) cgtctA/Tgatca 1 -- us2k10--------
    rs1151073281,2
    C,F--20052968(+) ACATGT/CTTGTT 1 -- us2k11Minor allele frequency- C:0.02WA 118
    rs78150951,2
    C,A,H--20052971(+) tgtttG/Cttttc 1 -- us2k1 tfbs34Minor allele frequency- C:0.00NS EA 418
    rs732140611,2
    C--20052993(+) CTCCAA/GCAGGT 1 -- us2k14Minor allele frequency- G:0.07CSA WA NA EA 360
    rs78377021,2
    A,H--20053000(+) AGGTAT/ACAGGA 1 -- us2k14Minor allele frequency- A:0.00NS EA 418
    rs1436673691,2
    --20053083(+) CTCAAC/TAGATG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for ATP6V1B2 (20054704 - 20084330 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for ATP6V1B2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2658730CNV Deletion23128226
    nsv6107CNV Loss18451855
    nsv522185CNV Gain19592680

    Site Specific Mutation Identification with PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for ATP6V1B2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 606939    OMIM disorders: --

    2 diseases for ATP6V1B2:    
    About MalaCards
    villonodular synovitis    pigmented villonodular synovitis

    1 disease from the University of Copenhagen DISEASES database for ATP6V1B2:
    Pigmented villonodular synovitis

    Find genes that share disorders with ATP6V1B2           About GenesLikeMe

    Genetic Association Database (GAD): ATP6V1B2
    Human Genome Epidemiology (HuGE) Navigator: ATP6V1B2 (2 documents)

    Export disorders for ATP6V1B2 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 ATP6V1B2 gene, integrated from 10 sources (see all 45):
    (articles sorted by number of sources associating them with ATP6V1B2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. An mRNA from human brain encodes an isoform of the B subunit of the vacuolar H(+)-ATPase. (PubMed id 2145275)1, 2, 3 Bernasconi P.... Taiz L. (J. Biol. Chem. 1990)
    2. Novel loci for major depression identified by genome-wide association study of Sequenced Treatment Alternatives to Relieve Depression and meta-analysis of three studies. (PubMed id 20038947)1, 4 Shyn S.I....Hamilton S.P. (Mol. Psychiatry 2011)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    4. A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder. (PubMed id 20889312)1, 4 Wang K.S....Aragam N. (Schizophr. Res. 2010)
    5. Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes. (PubMed id 17081065)1, 2 Chi A....Hunt D.F. (J. Proteome Res. 2006)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. 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. (Genome Res. 2004)
    8. Revised nomenclature for mammalian vacuolar-type H+ -ATPase subunit genes. (PubMed id 14580332)1, 3 Smith A.N....Karet F.E. (Mol. Cell 2003)
    9. Proteomic analysis of early melanosomes: identification of novel melanosomal proteins. (PubMed id 12643545)1, 2 Basrur V.... Appella E. (J. Proteome Res. 2003)
    10. Transcriptional regulation of the vacuolar H(+)-ATPase B2 subunit gene in differentiating THP-1 cells. (PubMed id 7706273)1, 2 Lee B.S.... Gluck S.L. (J. Biol. Chem. 1995)

    (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: 526 HGNC: 854 AceView: ATP6V1B2 Ensembl:ENSG00000147416 euGenes: HUgn526
    ECgene: ATP6V1B2 Kegg: 526 H-InvDB: ATP6V1B2

    (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 ATP6V1B2 Pharmacogenomics, SNPs, Pathways

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

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    Patent Information for ATP6V1B2 gene:
    Search GeneIP for patents involving ATP6V1B2

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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