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

ATP6V1B2 Gene

protein-coding   GIFtS: 65
GCID: GC08P020054

ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit...

(Previous names: ATPase, H+ transporting, lysosomal (vacuolar proton pump),...)
(Previous symbols: VPP3, ATP6B2)
 Explore 15 diseases affiliated with
ATP6V1B2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for ATP6V1B2    

Aliases
for ATP6V1B2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
ATPase, H+ Transporting, Lysosomal 56/58kDa, V1 Subunit B21 2     V-ATPase Subunit B 22 3
ATP6B21 2 3 5     ATP6B1B22 5
VPP31 2 3 5     ATPase, H+ Transporting, Lysosomal (Vacuolar Proton Pump), Beta Polypeptide,
56/58kD, Isoform 21
HO571 2 3     ATPase, H+ Transporting, Lysosomal 56/58kDa, V1 Subunit B, Isoform 21
VATB1 2     H+ Transporting Two-Sector ATPase2
Vma21 2     V-ATPase B2 Subunit2
Endomembrane Proton Pump 58 KDa Subunit2 3     V-Type Proton ATPase Subunit B, Brain Isoform2
Vacuolar Proton Pump Subunit B 22 3     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


Summaries
for ATP6V1B2 gene

(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 ATP6V1B2:
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)

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:
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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NC_018919.1  NT_167187.1  
Regulatory elements:
   SABiosciences 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 plasmid: ATP6V1B2 promoter sequence
   Search SABiosciences Chromatin IP Primers for ATP6V1B2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for ATP6V1B2 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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)
Subcellular location: Endomembrane system; Peripheral membrane protein. Melanosome. Note=Endomembrane. Identified by
mass spectrometry in melanosome fractions from stage I to stage IV
Secondary accessions: B2R5Z3 D3DSQ5 Q14544 Q15859 Q96IR0

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P21281

    • ATP6V1B2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001684.2  
    ENSEMBL proteins: 
     ENSP00000276390   ENSP00000430154   ENSP00000428069   ENSP00000430682   ENSP00000430866  
    Reactome Protein details: P21281
    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Purified Protein: ATP6V1B2
    OriGene Protein Over-expression Lysate: ATP6V1B2
    OriGene Custom Protein Services for ATP6V1B2 
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    Novus Biologicals ATP6V1B2 Protein
    Novus Biologicals ATP6V1B2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for ATP6V1B2

    Gene Ontology (GO): 5/11 cellular component terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005794Golgi apparatus IDA--
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane ISS--
    GO:0005902microvillus IEA--


    ATP6V1B2 for ontologies           About GeneDecksing



    ATP6V1B2 Antibody Products: 
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    Uscn Antibodies for ATP6V1B2
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    Assay Products for ATP6V1B2: 
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    Uscn ELISAs and CLIAs for ATP6V1B2

    Protein Domains /
    Families
    for ATP6V1B2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ATP6V1B2 for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6):
     IPR000793 ATPase_F1/V1/A1-cplx_a/bsu_C
     IPR004100 ATPase_a/bsu_N
     IPR022879 V-ATPase_su_B/beta
     IPR005723 ATPase_V1-cplx_bsu
     IPR020003 ATPase_a/bsu_AS

    Graphical View of Domain Structure for InterPro Entry P21281

    ProtoNet protein and cluster: P21281

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

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


    Function
    for ATP6V1B2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

    miRNA
    Products:            		miRTarBase miRNAs that target ATP6V1B2:
    hsa-mir-1 (MIRT003524)

    OriGene 3'-UTR Clone: ATP6V1B2
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ATP6V1B2
    8/41 QIAGEN miScript miRNA 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 plasmid: ATP6V1B2 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ATP6V1B2 (see all 7)
    OriGene shRNA RFP: ATP6V1B2
    OriGene siRNA: ATP6V1B2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ATP6V1B2

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for ATP6V1B2

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ATP6V1B2 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ATP6V1B2
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: ATP6V1B2 (NM_001693)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATP6V1B2 

    Cell Line
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    Search LifeMap BioReagents cell lines for ATP6V1B2

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATP6V1B2

    Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    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:0046933proton-transporting ATP synthase activity, rotational mechanism ----
    GO:0046961proton-transporting ATPase activity, rotational mechanism TAS2145275


    ATP6V1B2 for ontologies           About GeneDecksing


    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 


    Pathways & Interactions
    for ATP6V1B2 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/9 super-pathways (see all 9) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Insulin receptor recycling
    		Insulin receptor recycling1.00
    		Latent infection of Homo sapiens with Mycobacterium tuberculosis0.64
    		Transferrin endocytosis and recycling0.79
    		Iron uptake and transport0.56
    		Collecting duct acid secretion0.68
    		Vibrio cholerae infection0.41
    		Phagosomal maturation (early endosomal stage)0.64
    		Epithelial cell signaling in Helicobacter pylori infection0.33
    2Disease
    		Disease1.00
    3Rheumatoid arthritis
    		Rheumatoid arthritis1.00
    4Phagosome
    		Phagosome1.00
    5IRS-related events
    		Signaling by Insulin receptor0.74

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    5/9        Reactome Pathways for ATP6V1B2 (see all 9)
        Insulin receptor recycling
    Phagosomal maturation (early endosomal stage)
    Latent infection of Homo sapiens with Mycobacterium tuberculosis
    Iron uptake and transport
    Disease


    5/7         Kegg Pathways  (Kegg details for ATP6V1B2) (see all 7):
        Oxidative phosphorylation
    Metabolic pathways
    Phagosome
    Collecting duct acid secretion
    Vibrio cholerae infection


    ATP6V1B2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ATP6V1B2

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

    5/377 Interacting proteins for ATP6V1B2 (P212812, 3 ENSP000002763904) via UniProtKB, MINT, STRING, and/or I2D (see all 377)
    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): 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 TAS2145275
    GO:0033572transferrin transport TAS--


    ATP6V1B2 for ontologies           About GeneDecksing



    Drugs & Compounds
    for ATP6V1B2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 ATP6V1B2:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    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]

    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

    Search CenterWatch for drugs/clinical trials and news about ATP6V1B2 / VATB2 

    Transcripts
    for ATP6V1B2 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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
    Products:             		 OriGene 3'-UTR Clone: ATP6V1B2
    Browse OriGene MicroRNA Expression Plasmids
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    8/41 QIAGEN miScript miRNA 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 plasmid: ATP6V1B2 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ATP6V1B2 (see all 7)
    OriGene shRNA RFP: ATP6V1B2
    OriGene siRNA: ATP6V1B2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ATP6V1B2
    Clone
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    Primer
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    Additional cDNA 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 

    24/522 AceView cDNA sequences (see all 522):

    CA867687 BU731118 CB132526 BE254444 N32985 BU075665 BU166729 AU103928 
    AA639008 CA449083 BM749407 AU124853 BU947545 BM693279 H97757 BQ223434 
    N44999 AA468539 AI720732 CA436031 BG476502 CB156233 BE223058 R85900 

    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

    Expression
    for ATP6V1B2 gene

    (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

    ATP6V1B2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ATTATATTTT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    ATP6V1B2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    4 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    KidneyRenal Collecting Duct SystemIntercalated CellsKidney
    Neural TubeNeural TubeSpinal Neural Tube CellsNeural Ectoderm
    EyeRetinaEye
    Spinal CordPresumptive Spinal CordSpinal Cord
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See ATP6V1B2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ATP6V1B2

    SOURCE GeneReport for Unigene cluster: Hs.295917
        SABiosciences Custom PCR Arrays for ATP6V1B2
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    Orthologs
    for ATP6V1B2 gene

    (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 ATP6V1B2 gene from 10/42 species (see all 42)    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_424534.3  XP_424534.3 
    lizard
    (Anolis carolinensis)    		 Reptilia ATP6V1B26
    		 --
    		 94(a)
    		 1 ↔ 1
    		 GL343238.1(979172-1002415)
    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-121 , 3 vacuolar ATP synthase (strong)3
    Protein VHA-121    		 85(a)
    (best of 2)3
    71.37(n)1
    86.32(a)1    		   X(4226380-4228002)3
    1806921  NM_076310.61  NP_508711.11 
    baker's yeast
    (Saccharomyces cerevisiae)    		 Saccharomycetes VMA2(YBR127C)4
    VMA21    		 Subunit B of the eight-subunit V1 peripheral membrane more4
    Vma2p1    		 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 V-type proton ATPase subunit B1 71.34(n)
    80.39(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
    for ATP6V1B2 gene

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

    ATP6V1B2 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for ATP6V1B2
    PGOHUM00000242323 PGOHUM00000236325


    Genomic Variants
    for ATP6V1B2 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/498 NCBI SNPs in ATP6V1B2 are shown (see all 498)     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,--20052889(+) TCTTCG/ATCTAG 1 -- us2k12Minor allele frequency- A:0.04WA 120
    rs78338651,2
    		C,A--20052893(+) CGTCTA/TGATCA 1 -- us2k10--------
    rs1151073281,2
    		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 (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for ATP6V1B2: --

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    Disorders / Diseases
    for ATP6V1B2 gene

    (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.)
    About This Section
    ATP6V1B2 for disorders           About GeneDecksing

    OMIM gene information: 606939    OMIM disorders: --

    15 diseases for ATP6V1B2:    About MalaCards
    osteopetrosis    pigmented villonodular synovitis    renal tubular acidosis    villonodular synovitis
    bipolar disorder    rheumatoid arthritis    synovitis    epididymitis
    cholera    neurodegeneration    arthritis    pneumonia
    cerebritis    schizophrenia    malaria

    1 disease from the University of Copenhagen DISEASES database for ATP6V1B2:
    Pigmented villonodular synovitis
    Human Genome Epidemiology (HuGE) Navigator: ATP6V1B2 (2 documents)

    Export disorders for ATP6V1B2 gene to outside databases

    Publications
    for ATP6V1B2 gene

    (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 ATP6V1B2 gene, integrated from 9 sources (see all 40):
    (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. (1990)
    2. Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes. (PubMed id 17081065)1, 2 Chi A....Hunt D.F. (2006)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. 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)
    5. Revised nomenclature for mammalian vacuolar-type H+ -ATPase subunit genes. (PubMed id 14580332)1, 3 Smith A.N....Karet F.E. (2003)
    6. Proteomic analysis of early melanosomes: identification of novel melanosomal proteins. (PubMed id 12643545)1, 2 Basrur V.... Appella E. (2003)
    7. 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. (1995)
    8. Heterogeneity of vacuolar H(+)-ATPase: differential expression of two human subunit B isoforms. (PubMed id 7945239)1, 2 van Hille B....Bilbe G. (1994)
    9. Selectively amplified expression of an isoform of the vacuolar H(+)- ATPase 56-kilodalton subunit in renal intercalated cells. (PubMed id 1373501)1, 2 Nelson R.D.... Gluck S. (1992)
    10. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)

    External Searches for ATP6V1B2 gene

    (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)

    Genome Databases showing ATP6V1B2 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 526 HGNC: 854 AceView: ATP6V1B2 Ensembl:ENSG00000147416 euGenes: HUgn526
    ECgene: ATP6V1B2 Kegg: 526 H-InvDB: ATP6V1B2

    Other Databases showing ATP6V1B2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing ATP6V1B2 gene

    (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 ATP6V1B2 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for ATP6V1B2 gene

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



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