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Aliases for ATP6V1B2 Gene

Aliases for ATP6V1B2 Gene

  • ATPase, H+ Transporting, Lysosomal 56/58kDa, V1 Subunit B2 2 3
  • ATP6B2 3 4 6
  • VPP3 3 4 6
  • Endomembrane Proton Pump 58 KDa Subunit 3 4
  • Vacuolar Proton Pump Subunit B 2 3 4
  • V-ATPase Subunit B 2 3 4
  • ATP6B1B2 3 6
  • HO57 3 4
  • ATPase, H+ Transporting, Lysosomal (Vacuolar Proton Pump), Beta Polypeptide, 56/58kD, Isoform 2 2
  • ATPase, H+ Transporting, Lysosomal 56/58kDa, V1 Subunit B, Isoform 2 2
  • V-Type Proton ATPase Subunit B, Brain Isoform 3
  • H+ Transporting Two-Sector ATPase 3
  • Vacuolar H+-ATPase 56,000 Subunit 3
  • V-ATPase B2 Subunit 3
  • VATB 3
  • Vma2 3

External Ids for ATP6V1B2 Gene

Previous Symbols for ATP6V1B2 Gene

  • VPP3
  • ATP6B2

Summaries for ATP6V1B2 Gene

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 autosomal dominant deafness-onychodystrophy syndrome and pigmented villonodular synovitis. Among its related pathways are Signaling by GPCR and Insulin receptor signalling cascade. 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 for ATP6V1B2 Gene

  • 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

Tocris 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

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATP6V1B2 Gene

Genomics for ATP6V1B2 Gene

Genomic Location for ATP6V1B2 Gene

Start:
20,197,193 bp from pter
End:
20,226,819 bp from pter
Size:
29,627 bases
Orientation:
Plus strand

Genomic View for ATP6V1B2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ATP6V1B2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP6V1B2 Gene

Regulatory Elements for ATP6V1B2 Gene

Proteins for ATP6V1B2 Gene

  • Protein details for ATP6V1B2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P21281-VATB2_HUMAN
    Recommended name:
    V-type proton ATPase subunit B, brain isoform
    Protein Accession:
    P21281
    Secondary Accessions:
    • B2R5Z3
    • D3DSQ5
    • Q14544
    • Q15859
    • Q96IR0

    Protein attributes for ATP6V1B2 Gene

    Size:
    511 amino acids
    Molecular mass:
    56501 Da
    Quaternary structure:
    • 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)

neXtProt entry for ATP6V1B2 Gene

Proteomics data for ATP6V1B2 Gene at MOPED

Post-translational modifications for ATP6V1B2 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys64 and Lys109

Other Protein References for ATP6V1B2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for ATP6V1B2 Gene

Domains for ATP6V1B2 Gene

Gene Families for ATP6V1B2 Gene

HGNC:
  • VATP :ATPases / V-type
IUPHAR :

UniProtKB/Swiss-Prot:

VATB2_HUMAN
Family:
  • Belongs to the ATPase alpha/beta chains family.:
    • P21281
genes like me logo Genes that share domains with ATP6V1B2: view

Function for ATP6V1B2 Gene

Molecular function for ATP6V1B2 Gene

UniProtKB/Swiss-Prot 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) - Molecular Function for ATP6V1B2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0005524 ATP binding IEA --
GO:0015078 hydrogen ion transmembrane transporter activity TAS 2145275
GO:0016820 hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances --
GO:0046961 proton-transporting ATPase activity, rotational mechanism TAS 2145275
genes like me logo Genes that share ontologies with ATP6V1B2: view
genes like me logo Genes that share phenotypes with ATP6V1B2: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for ATP6V1B2 Gene

Localization for ATP6V1B2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATP6V1B2 Gene

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
Jensen Localization Image for ATP6V1B2 Gene COMPARTMENTS Subcellular localization image for ATP6V1B2 gene
Compartment Confidence
cytosol 4
golgi apparatus 4
plasma membrane 4
mitochondrion 2
extracellular 1
nucleus 1

Gene Ontology (GO) - Cellular Components for ATP6V1B2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001726 ruffle IEA --
GO:0005737 cytoplasm --
GO:0005765 lysosomal membrane IDA 17897319
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane ISS --
genes like me logo Genes that share ontologies with ATP6V1B2: view

Pathways for ATP6V1B2 Gene

genes like me logo Genes that share pathways with ATP6V1B2: view

Gene Ontology (GO) - Biological Process for ATP6V1B2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006879 cellular iron ion homeostasis TAS --
GO:0008286 insulin receptor signaling pathway TAS --
GO:0015991 ATP hydrolysis coupled proton transport IEA --
GO:0015992 proton transport TAS 2145275
GO:0033572 transferrin transport TAS --
genes like me logo Genes that share ontologies with ATP6V1B2: view

Compounds for ATP6V1B2 Gene

(3) Tocris Compounds for ATP6V1B2 Gene

Compound Action Cas Number
Bafilomycin A1 H+-ATPase (vacuolar) inhibitor [88899-55-2]
Concanamycin A H+-ATPase (vacuolar) inhibitor [80890-47-7]
Disulfiram Reversibly stimulates SERCA Ca2+-ATPase; displays a range of other activities [97-77-8]

(4) HMDB Compounds for ATP6V1B2 Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0
Phosphate
  • NFB Orthophosphate
14265-44-2
Water
  • Dihydrogen oxide
7732-18-5

(2) Drugbank Compounds for ATP6V1B2 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
4-(2-AMINOETHYL)BENZENESULFONYL FLUORIDE
target
Gallium nitrate
13494-90-1 target inhibitor
genes like me logo Genes that share compounds with ATP6V1B2: view

Transcripts for ATP6V1B2 Gene

mRNA/cDNA for ATP6V1B2 Gene

Unigene Clusters for ATP6V1B2 Gene

ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2:
Representative Sequences:

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

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: -

Relevant External Links for ATP6V1B2 Gene

GeneLoc Exon Structure for
ATP6V1B2
ECgene alternative splicing isoforms for
ATP6V1B2

Expression for ATP6V1B2 Gene

mRNA expression in normal human tissues for ATP6V1B2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ATP6V1B2 Gene

This gene is overexpressed in Whole Blood (5.7).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ATP6V1B2 Gene

SOURCE GeneReport for Unigene cluster for ATP6V1B2 Gene Hs.295917

genes like me logo Genes that share expressions with ATP6V1B2: view

Orthologs for ATP6V1B2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ATP6V1B2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ATP6V1B2 36
  • 99.67 (n)
  • 100 (a)
ATP6V1B2 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ATP6V1B2 36
  • 92.3 (n)
  • 99.02 (a)
ATP6V1B2 37
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ATP6V1B2 36
  • 93.35 (n)
  • 98.83 (a)
ATP6V1B2 37
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Atp6v1b2 36
  • 89.43 (n)
  • 99.02 (a)
Atp6v1b2 16
Atp6v1b2 37
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ATP6V1B2 37
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 86 (a)
OneToMany
-- 37
  • 20 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Atp6v1b2 36
  • 90.22 (n)
  • 99.02 (a)
chicken
(Gallus gallus)
Aves ATP6V1B2 36
  • 83.67 (n)
  • 96 (a)
VATB 37
  • 94 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATP6V1B2 37
  • 94 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia vha55-prov 36
tropical clawed frog
(Silurana tropicalis)
Amphibia atp6v1b2 36
  • 78.64 (n)
  • 93.85 (a)
Str.10560 36
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11905 36
zebrafish
(Danio rerio)
Actinopterygii atp6v1b2 36
  • 78.02 (n)
  • 92.91 (a)
atp6v1b2 37
  • 93 (a)
OneToMany
atp6v1ba 37
  • 91 (a)
OneToMany
atp6v1bb 36
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002884 36
  • 72.15 (n)
  • 90.83 (a)
fruit fly
(Drosophila melanogaster)
Insecta Vha55 36
  • 72.92 (n)
  • 91.04 (a)
Vha55 37
  • 89 (a)
OneToMany
Vha55 38
  • 90 (a)
worm
(Caenorhabditis elegans)
Secernentea spe-5 36
  • 68.81 (n)
  • 79.42 (a)
spe-5 37
  • 76 (a)
ManyToMany
vha-12 37
  • 84 (a)
ManyToMany
vha-12 38
  • 85 (a)
Y110A7A.12 38
  • 77 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADL380W 36
  • 69.31 (n)
  • 78.76 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VMA2 36
  • 67.79 (n)
  • 80.55 (a)
VMA2 37
  • 74 (a)
OneToMany
VMA2 39
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D09152g 36
  • 68.29 (n)
  • 79.92 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.7007 36
soybean
(Glycine max)
eudicotyledons Gma.16738 36
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G76030 36
  • 71.25 (n)
  • 80.22 (a)
corn
(Zea mays)
Liliopsida Zm.6859 36
rice
(Oryza sativa)
Liliopsida Os.1592 36
Os06g0568200 36
  • 69.47 (n)
  • 79.74 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU08515 36
  • 65.54 (n)
  • 78.95 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes vma2 36
  • 68.82 (n)
  • 77.66 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14131 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 77 (a)
OneToMany
Species with no ortholog for ATP6V1B2:
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ATP6V1B2 Gene

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

Paralogs for ATP6V1B2 Gene

Paralogs for ATP6V1B2 Gene

Selected SIMAP similar genes for ATP6V1B2 Gene using alignment to 5 proteins:

Pseudogenes.org Pseudogenes for ATP6V1B2 Gene

genes like me logo Genes that share paralogs with ATP6V1B2: view

Variants for ATP6V1B2 Gene

Sequence variations from dbSNP and Humsavar for ATP6V1B2 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type MAF
rs8011 -- 20,221,531(+) GCAAT(A/G)GCAAC utr-variant-3-prime
rs14815 -- 20,221,563(+) TCTTT(C/T)ATGTT utr-variant-3-prime
rs1042378 -- 20,197,488(+) TGGGA(G/T)CTCGG reference, missense
rs1042426 -- 20,221,132(+) AGGAG(C/T)CACAT utr-variant-3-prime
rs1106634 -- 20,208,538(+) GCGGA(A/G)TGATT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ATP6V1B2 Gene

Variant ID Type Subtype PubMed ID
nsv522185 CNV Gain 19592680
nsv6107 CNV Loss 18451855
esv2658730 CNV Deletion 23128226

Relevant External Links for ATP6V1B2 Gene

HapMap Linkage Disequilibrium report
ATP6V1B2
Human Gene Mutation Database (HGMD)
ATP6V1B2

Disorders for ATP6V1B2 Gene

(1) University of Copenhagen DISEASES for ATP6V1B2 Gene

Relevant External Links for ATP6V1B2

Genetic Association Database (GAD)
ATP6V1B2
Human Genome Epidemiology (HuGE) Navigator
ATP6V1B2
genes like me logo Genes that share disorders with ATP6V1B2: view

No data available for UniProtKB/Swiss-Prot for ATP6V1B2 Gene

Publications for ATP6V1B2 Gene

  1. An mRNA from human brain encodes an isoform of the B subunit of the vacuolar H(+)-ATPase. (PMID: 2145275) Bernasconi P. … Taiz L. (J. Biol. Chem. 1990) 2 3 4
  2. Proteomic analysis of early melanosomes: identification of novel melanosomal proteins. (PMID: 12643545) Basrur V. … Appella E. (J. Proteome Res. 2003) 3 4
  3. Transcriptional regulation of the vacuolar H(+)-ATPase B2 subunit gene in differentiating THP-1 cells. (PMID: 7706273) Lee B.S. … Gluck S.L. (J. Biol. Chem. 1995) 3 4
  4. Heterogeneity of vacuolar H(+)-ATPase: differential expression of two human subunit B isoforms. (PMID: 7945239) van Hille B. … Bilbe G. (Biochem. J. 1994) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4

Products for ATP6V1B2 Gene

Sources for ATP6V1B2 Gene

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