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 )
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Aliases & Descriptionsfor ATP6V1B2 gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )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
Export aliases for ATP6V1B2 gene to outside databases Previous GC identifers: GC08M019917 GC08P020117 GC08P019864 GC08P020064 GC08P020098 GC08P020054
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Summariesfor ATP6V1B2 gene (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 acidifyinga 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 acidifyintracellular compartments in eukaryotic cells. It is ubiquitously expressed and is present in endomembraneorganelles such as vacuoles, lysosomes, endosomes, the Golgi apparatus, chromaffin granules and coatedvesicles, 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 vesiclesto and from the plasma membrane and glucose-sensitive assembly/disassembly of the holoenzyme complex. Thesetransporters play an important role in processes such as receptor-mediated endocytosis, protein degradationand coupled transport. They have a function in bone reabsorption and mutations in the A3 gene causerecessive osteopetrosis. Furthermore, H+-ATPases have been implicated in tumor metastasis and regulation ofsperm motility and maturation. Gene Wiki entry for ATP6V1B2
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Genomic Viewsfor 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 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) 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 : Chr 8+ 20,054,878-20,084,330
RefSeq DNA sequence: NC_000008.10 NT_167187.1
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Proteinsfor ATP6V1B2 gene
(According to
1 UniProtKB ,
neXtProt ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
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 bymass spectrometry in melanosome fractions from stage I to stage IV
Secondary accessions : B2R5Z3 Q14544 Q15859 Q96IR0Explore the universe of human proteins at neXtProt for ATP6V1B2: NX_P21281 Post-translational modifications:
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins: NP_001684.2 ENSEMBL proteins: ENSP00000430682 ENSP00000276390 ENSP00000430866 ENSP00000430154 ENSP00000428069 Human Recombinant Proteins 5/10 Gene Ontology (GO) cellular component terms (GO ID links to tree view) (see all 10 ):
About this table
ATP6V1B2 for ontologies About GeneDecksing Antibodies for ATP6V1B2: Assays for ATP6V1B2:
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Protein
Domains/ Familiesfor 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 ):
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
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Gene Functionfor ATP6V1B2 gene
(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 acidifyinga variety of intracellular compartments in eukaryotic cells
5/6 Gene Ontology (GO) molecular function terms (GO ID links to tree view) (see all 6 ):
GO ID Qualified GO term Evidence PubMed IDs GO:0005524 ATP binding
IEA -- GO:0015078 hydrogen ion transmembrane transporter activity
TAS 2145275 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 --
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ATP6V1B2 for ontologies About GeneDecksing
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Pathways & Interactionsfor ATP6V1B2 gene
(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 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
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 5/6 Kegg Pathways (Kegg details for ATP6V1B2) (see all 6 ): 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 (ENSP00000276390 3 P21281 2 ) via UniProtKB, MINT, and/or STRING (see all 56 )About this table 5 Gene Ontology (GO) biological process terms (GO ID links to tree view) :
About this table
ATP6V1B2 for ontologies About GeneDecksing
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Drugs & Compoundsfor ATP6V1B2 gene (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 Compounds for ATP6V1B2 available from Tocris Bioscience About this table
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Transcriptsfor ATP6V1B2 gene (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 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
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Expression for ATP6V1B2 gene
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
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 About these images CGAP SAGE TAG: ATTATATTTT SOURCE GeneReport for Unigene cluster: Hs.295917 Expression variation in blood from EXPOLDB for ATP6V1B2
SABiosciences Custom PCR Arrays for ATP6V1B2
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Orthologsfor ATP6V1B2 gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI 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
11966 1 NM_007509.2 1 NP_031535.2 1 AI194269 5 AI323712 5 (see all 88 )
About this table Species with no ortholog for ATP6V1B2 ENSEMBL Gene Tree for ATP6V1B2 (if available)
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Paralogsfor ATP6V1B2 gene (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section Paralogs for ATP6V1B2 gene ATP6V1B1 2
ATP6V1B2 for paralogs About GeneDecksing
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Genomic Variantsfor ATP6V1B2 gene (SNPs according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants , Resequencing Primers from Qiagen )
About This Section
Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Chr 8 pos Sequence Recs AA Chg Type More Recs Allele freq Pop Total sample More
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
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Disorders & Mutationsfor ATP6V1B2 gene
(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
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Medical Newsfor ATP6V1B2 gene (Possibly Related Articles in
Doctor's Guide )
About This Section --
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Publicationsfor ATP6V1B2 gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 UniProtKB/TrEMBL , and/or
7 Novoseek )
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) 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) Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes. (PubMed id 17081065) 1 , 2 Chi A....Hunt D.F. (2006) 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) Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039) 1 , 2 Ota T.... Sugano S. (2004) Revised nomenclature for mammalian vacuolar-type H+ -ATPase subunit genes. (PubMed id 14580332) 1 , 3 Smith A.N....Karet F.E. (2003) Proteomic analysis of early melanosomes: identification of novel melanosomal proteins. (PubMed id 12643545) 1 , 2 Basrur V.... Appella E. (2003) 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) Heterogeneity of vacuolar H(+)-ATPase: differential expression of two human subunit B isoforms. (PubMed id 7945239) 1 , 2 van Hille B....Bilbe G. (1994) 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) Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614) 1 Rose J.E....Uhl G.R. (2010)
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External Searches for ATP6V1B2 gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing ATP6V1B2 gene
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
Kegg ,
and/or
H-InvDB )
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Other Databases showing ATP6V1B2 gene
(According to HUGE )
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Specialized Databases showing ATP6V1B2 gene (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
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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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Productsfor ATP6V1B2 gene (Antibodies, recombinant proteins, and assays by Millipore , Sigma-Aldrich , R&D Systems , Qiagen , GenScript , Cell Signaling Technology , SABiosciences , Novus Biologicals , Epitomics , ProSpec , Uscn , Clones available from Millipore , Sigma-Aldrich , OriGene , GenScript , Sino Biological , PCR Arrays from SABiosciences , Drugs and/or compounds by Sigma-Aldrich , Tocris Bioscience , and/or
Enzo Life Sciences )About This Section
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Aliases for ATP6V1B2
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Medical News for ATP6V1B2
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Products for ATP6V1B2
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