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ATP6V1B2 Gene

protein-coding   GIFtS: 59

GC08P018594
ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2
(Previous names: ATPase, H+ transporting, lysosomal (vacuolar proton pump), beta polypeptide, 56/58kD, isoform 2, ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B, isoform 2 )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: VPP3, ATP6B2)
Products    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases & Descriptions
ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B21 2     V-ATPase subunit B 22 3
HO571 2 3     ATP6B1B22 5
VPP32 3 5     ATPase, H+ transporting, lysosomal (vacuolar proton pump), beta polypeptide,
56/58kD, isoform 21
ATP6B22 3 5     ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B, isoform 21
VATB1 2     V-ATPase B2 subunit2
Vma21 2     V-type proton ATPase subunit B, brain isoform2
Endomembrane proton pump 58 kDa subunit2 3     vacuolar H+-ATPase 56,000 subunit2
Vacuolar proton pump subunit B 22 3     H+ transporting two-sector ATPase2

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

Export aliases for ATP6V1B2 gene to outside databases

Previous GC identifers: GC08M019917 GC08P020117 GC08P019864 GC08P020064 GC08P020098 GC08P020054


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
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)

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

(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 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section

Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ATP6V1B2 gene promoter:
         YY1   ATF6   Cart-1   GATA-3   GATA-2   GATA-1   NRSF form 1   NRSF form 2   STAT5A   XBP-1   
         Other transcription factors

   Search SABiosciences Chromatin IP Primers for ATP6V1B2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for 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 gene densities for chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P018594:  view genomic region     (about GC identifiers)

Start:
18,594,885 bp from pter
End:
18,619,391 bp from pter
Size:
24,507 bases
Orientation:
plus strand

1 alternative location:
Chr8+ 20,054,878-20,084,330     
RefSeq DNA sequence:
NC_000008.10  NT_167187.1  

(According to 1UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
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 an 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 Q14544 Q15859 Q96IR0

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

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_001684.2  

    ENSEMBL proteins: 
    ENSP00000430682 ENSP00000276390 ENSP00000430866 ENSP00000430154 ENSP00000428069 


    Human Recombinant Proteins 
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein: ATP6V1B2
    OriGene Protein Over-expression Lysate: ATP6V1B2
    GenScript Custom Purified and Recombinant Proteins Services for ATP6V1B2 
    Novus Biologicals Protein for ATP6V1B2
    Novus Biologicals Lysate for ATP6V1B2
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins

    5/10 Gene Ontology (GO) cellular component terms (GO ID links to tree view) (see all 10):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005794 Golgi apparatus IDA18029348
    GO:0005829 cytosol TAS--
    GO:0005886 plasma membrane ISS--
    GO:0012505 endomembrane system IEA--
    GO:0016021 integral to membrane IEA--
    About this table

    ATP6V1B2 for ontologies           About GeneDecksing



    Antibodies for ATP6V1B2: 
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for ATP6V1B2
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    GenScript Custom Superior Antibodies Services for ATP6V1B2 
    Novus Biologicals Antibodies for ATP6V1B2
    Browse antibodies at Epitomics

    Assays for ATP6V1B2: 
    Browse Kits and Assays available from Millipore
    Browse ELISAs at Sigma-Aldrich
    OriGene Custom Immunoassay Development 
    Browse OriGene Fluorogenic Cell Assay Kits 
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for ATP6V1B2 
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for ATP6V1B2 


    (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_F1/V1/A1-cplx_a/bsu_N
     IPR022879 V-ATPase_su_B/beta
     IPR020003 ATPase_a/bsu_AS
     IPR000194 ATPase_a/bsu_nucl-bd

    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


    (According to UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
    About This Section

    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

    Inhib.
    RNA:
        
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich siRNA Panels and esiRNA and siRNA for ATP6V1B2
    Sigma-Aldrich shRNA Panels and shRNA for ATP6V1B2
    OriGene 29mer shRNA kits in GFP-retroviral vector: ATP6V1B2
    OriGene shRNA RFP: ATP6V1B2
    OriGene basic RS shRNA: ATP6V1B2
    OriGene siRNA: ATP6V1B2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of ATP6V1B2 
    miRNA:Sigma-Aldrich microRNA Mimics for ATP6V1B2
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of ATP6V1B2 
    4 SABiosciences Assays for microRNAs that regulate ATP6V1B2:
    hsa-miR-513b hsa-miR-19b hsa-miR-19a hsa-miR-1227

    Gene
    Editing:
    Browse CompoZr Knockout ZFN at Sigma-Aldrich 

    Clones:Browse Clones for the Expression of Recombinant Proteins Available from Millipore
    Browse iPSC Reprogramming Factors at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector: ATP6V1B2
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector: ATP6V1B2
    OriGene untagged cDNA clones in CMV expression vector: ATP6V1B2
    OriGene 3'-UTR clone: ATP6V1B2 
    Browse MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for ATP6V1B2 
    Browse Sino Biological Human cDNA Clones

    Cell
    Lines:
      
    GenScript Custom overexpressing Cell Line Services for ATP6V1B2 

    5/6 Gene Ontology (GO) molecular function terms (GO ID links to tree view) (see all 6):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005524 ATP binding IEA--
    GO:0015078 hydrogen ion transmembrane transporter activity TAS2145275
    GO:0016787 hydrolase activity IEA--
    GO:0016820 hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances IEA--
    GO:0046933 hydrogen ion transporting ATP synthase activity, rotational mechanism IEA--
    About this table

    ATP6V1B2 for ontologies           About GeneDecksing


    (Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
    About This Section


    ATP6V1B2 for pathways           About GeneDecksing

    1 Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathway for  ATP6V1B2
        Oxidative Phosphorylation

    5/6 Kegg Pathways  (Kegg details for ATP6V1B2) (see all 6):
        hsa00190 Oxidative phosphorylation
    hsa01100 Metabolic pathways
    hsa04145 Phagosome
    hsa04966 Collecting duct acid secretion
    hsa05110 Vibrio cholerae infection

        SABiosciences Custom Pathway-Focused PCR Arrays for ATP6V1B2 

        Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for ATP6V1B2
        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ATP6V1B2

    5/56 Interacting proteins for ATP6V1B2 (ENSP000002763903 P212812) via UniProtKB, MINT, and/or STRING (see all 56)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATP6V0D1P614212STRING: ENSP00000290949 MINT-4054731
    ATP6V1AP386062STRING: ENSP00000273398 MINT-4054731
    A2MP010232MINT-4054731
    ACTBP607092MINT-4054731
    ALPPP051872MINT-4054731
    About this table

    5 Gene Ontology (GO) biological process terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006811 ion transport IEA--
    GO:0008286 insulin receptor signaling pathway TAS--
    GO:0015986 ATP synthesis coupled proton transport IEA--
    GO:0015992 proton transport TAS2145275
    GO:0046034 ATP metabolic process IEA--
    About this table

    ATP6V1B2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section
    Browse Small Molecules at Sigma-Aldrich
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for ATP6V1B2 available from Tocris Bioscience
    CompoundAction CAS number
    Bafilomycin A1H+-ATPase (vacuolar) inhibitor[88899-55-2]
    Concanamycin AH+-ATPase (vacuolar) inhibitor[80890-47-7]
    About this table




    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Millipore,
    siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
    Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
    About This Section

    Inhib.
    RNA:
         
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich siRNA Panels and esiRNA and siRNA for ATP6V1B2
    Sigma-Aldrich shRNA Panels and shRNA for ATP6V1B2
    OriGene 29mer shRNA kits in GFP-retroviral vector: ATP6V1B2
    OriGene shRNA RFP: ATP6V1B2
    OriGene basic RS shRNA: ATP6V1B2
    OriGene siRNA: ATP6V1B2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of ATP6V1B2 
    miRNA: Sigma-Aldrich microRNA Mimics for ATP6V1B2
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of ATP6V1B2 
    4 SABiosciences Assays for microRNAs that regulate ATP6V1B2:
    hsa-miR-513b hsa-miR-19b hsa-miR-19a hsa-miR-1227
    Clones: Browse FLAG tag genes at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector: ATP6V1B2
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector: ATP6V1B2
    OriGene untagged cDNA clones in CMV expression vector: ATP6V1B2
    OriGene 3'-UTR Clone: ATP6V1B2 
    Browse OriGene MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for ATP6V1B2 
    Primers: OriGene genome-wide validated SYBR primer pairs: ATP6V1B2
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for ATP6V1B2: PPH01372A

    REFSEQ mRNAs for ATP6V1B2 gene: 

    NM_001693.3  

    Additional cDNA sequence: 

    AK294163.1 AK298819.1 AK312372.1 BC003100.1 BC007309.1 BC030640.2 CR605997.1 CR617043.1 
    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.97854931 
    DT.100827087  DT.121474388  DT.75181249 

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

    CA436031 CB156233 R85900 BU075665 BG476502 CA867687 AA360394 AA460105 
    CB132526 BP350262 CA944768 CD108884 CR617043 BM554960 AI250446 AW250470 
    BE223058 CA396847 BP347241 X62949 BM824483 BM704277 BM693279 BI711805 

    highest scoring ESTs for ATP6V1B2:

    L35249 AA010125 AA010126 AA015902 AA024717 AA024718 AA025602 AA025716 AA047042 AA055216 

    Unigene Cluster for ATP6V1B2:

    ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2
    Hs.295917  [show with all ESTs]
    Unigene Representative Sequence: NM_001693


    GeneLoc Exon Structure

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

    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:                                      -                                                                                 

    About this scheme

    ECgene alternative splicing isoforms for ATP6V1B2
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000523482 ENST00000519667 ENST00000276390(uc003wzp.2 uc003wzq.1)
    ENST00000521442 ENST00000523478 ENST00000520830

    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Primers from OriGene and/or SABiosciences )
    About This Section

    ATP6V1B2 expression in normal and diseased human tissues

    1  / 2  / 3

    4 probe-sets matching ATP6V1B2 gene

    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    40568_at2, 3 U95-A 1 1.00 1.00 0.57 1.15 L35249 1.00 1.00 1.00 1
    70255_at*2, 3 U95-E 1 -- -- 0.88 0.87 AI720732 0.60 1.00 0.82 1
    201089_at2, 3 U133-A 1 1.00 1.00 -- -- NM_001693 0.60 1.00 0.82 1
    201089_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    About this table

    ATP6V1B2 for expression           About GeneDecksing

    Data from Genenote  (Publications) and GNF BioGPS
        About these images
    ATP6V1B2 gene expression
    ATP6V1B2 gene electronic northern expression
    ATP6V1B2 gene sage expression
    About these images

    CGAP SAGE TAG: ATTATATTTT

    SOURCE GeneReport for Unigene cluster: Hs.295917

    Expression variation in blood from EXPOLDB for ATP6V1B2

    Primers: OriGene genome-wide validated SYBR primer pairs: ATP6V1B2
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for ATP6V1B2: PPH01372A
        SABiosciences Custom PCR Arrays for ATP6V1B2 


    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section

    Orthologs for ATP6V1B2 gene from 5/28 species (see all 28)
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    ATP6V1B21   -- ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit more 93.35(n)
    98.83(a)
    486137  XM_543263.2  XP_543263.2 
    chimpanzee
    (Pan troglodytes)
    ATP6V1B21   -- ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit more 99.67(n)
    100(a)
    464033  XM_519638.2  XP_519638.2 
    cow
    (Bos taurus)
    ATP6V1B21   -- ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit more 92.21(n)
    98.82(a)
    338082  NM_176671.2  NP_788844.1 
    rat
    (Rattus norvegicus)
    Atp6v1b21   -- ATPase, H transporting, lysosomal V1 subunit B2 90.22(n)
    99.02(a)
    117596  NM_057213.2  NP_476561.1 
    mouse
    (Mus musculus)
    Atp6v1b21 , 5 8 (33.88 cM)5
    ATPase, H+ transporting, lysosomal V1 subunit B21, 5 89.43(n)1
    99.02(a)1
    119661  NM_007509.21  NP_031535.21 
     AI1942695  AI3237125  (see all 88)
    About this table        Species with no ortholog for ATP6V1B2

    ENSEMBL Gene Tree for ATP6V1B2 (if available)

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section
    Paralogs for ATP6V1B2 gene
    ATP6V1B12  

    ATP6V1B2 for paralogs           About GeneDecksing



    (SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
    About This Section

    10/248 NCBI SNPs in ATP6V1B2 are shown (see all 248)
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidChr 8 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ----------
    rs80111,2
    C,F,O,20079042(+) GCAATA/GGCAAC 1 -- ut318Minor allele frequency- G:0.01MN NS EA NA 744
    rs148151,2
    --20079074(+) TCTTTC/TATGTT 1 -- ut31 ese31Minor allele frequency- T:0.00MN 184
    rs10423781,2
    --20054999(+) TGGGAG/TCTCGG 2 A S ref1 mis11Minor allele frequency- T:0.00MN 184
    rs10424261,2
    C,F,O,H,20078643(+) AGGAGT/CCACAT 1 -- ut31 ese38Minor allele frequency- C:0.10MN NS EA NA 762
    rs11066341,2
    C,F,O,H,20066049(+) GCGGAG/ATGATT 1 -- int113Minor allele frequency- A:0.17NS EA NA WA 1062
    rs14970191,2
    C,F,20056352(-) ATTTTG/CTAATT 1 -- int17Minor allele frequency- C:0.18NS EA NA 496
    rs14970241,2
    C,20061469(+) TTGCAG/CGCTAT 1 -- int16Minor allele frequency- C:0.04EA NA 1744
    rs22917911,2
    C,F,20066839(+) AGAGTA/GGAGGG 1 -- int17Minor allele frequency- G:0.05NA NS EA 516
    rs24106331,2
    C,F,O,20060856(-) TGGTAC/AAAATG 1 -- int119Minor allele frequency- A:0.15EA NS NA WA 972
    rs24106381,2
    C,F,A,H,20063137(+) AGATTG/TATAGT 1 -- int111Minor allele frequency- T:0.27NS EA NA WA 510
    About this table

    HapMap Linkage Disequilibrium images for ATP6V1B2 (up to first 250kb)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for ATP6V1B2: --

    QIAGEN SeqTarget long-range PCR primers for resequencing ATP6V1B2 

    (in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    ATP6V1B2 for disorders           About GeneDecksing

    OMIM: 606939

    Human Genome Epidemiology (HuGE) Navigator: ATP6V1B2 (2 documents)

    Export disorders and mutations for ATP6V1B2 gene to outside databases

    (Possibly Related Articles in Doctor's Guide)
    About This Section
      --

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6UniProtKB/TrEMBL, and/or 7Novoseek)
    About This Section

    10/27 PubMed articles for ATP6V1B2 gene, integrated from 7 sources (see all 27):
    (articles sorted by number of sources associating them with ATP6V1B2)
    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. 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)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (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. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (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

    (According to HUGE)
    About This Section
      --

    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
      --

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from XenneX, Inc.)
    About This Section
    Patent Information for ATP6V1B2 gene:
    Search GeneIP for patents involving ATP6V1B2

    GeneCards and IP:
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