Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ATP6V1B2 Gene

Aliases for ATP6V1B2 Gene

  • ATPase H+ Transporting V1 Subunit B2 2 3 5
  • ATPase, H+ Transporting, Lysosomal 56/58kDa, V1 Subunit B2 2 3
  • Endomembrane Proton Pump 58 KDa Subunit 3 4
  • Vacuolar Proton Pump Subunit B 2 3 4
  • V-ATPase Subunit B 2 3 4
  • ATP6B2 3 4
  • VPP3 3 4
  • 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
  • Testicular Secretory Protein Li 65 3
  • H+ Transporting Two-Sector ATPase 3
  • Vacuolar H+-ATPase 56,000 Subunit 3
  • V-ATPase B2 Subunit 3
  • ATP6B1B2 3
  • VMA2 3
  • VATB 3
  • DOOD 3
  • ZLS2 3

External Ids for ATP6V1B2 Gene

Previous HGNC Symbols for ATP6V1B2 Gene

  • VPP3
  • ATP6B2

Previous GeneCards Identifiers for ATP6V1B2 Gene

  • GC08M019917
  • GC08P020117
  • GC08P019864
  • GC08P020064
  • GC08P020098
  • GC08P020054
  • GC08P018594

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 V1 Subunit B2) is a Protein Coding gene. Diseases associated with ATP6V1B2 include Zimmermann-Laband Syndrome 2 and Deafness, Congenital, And Onychodystrophy, Autosomal Dominant. Among its related pathways are Insulin receptor recycling and Signaling by GPCR. GO annotations related to this gene include hydrogen ion transmembrane transporter activity and hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances. 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 and endosomes.

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

Regulatory Elements for ATP6V1B2 Gene

Enhancers for ATP6V1B2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around ATP6V1B2 on UCSC Golden Path with GeneCards custom track

Promoters for ATP6V1B2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ATP6V1B2 on UCSC Golden Path with GeneCards custom track

Genomic Location for ATP6V1B2 Gene

Chromosome:
8
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

Genes around ATP6V1B2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP6V1B2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATP6V1B2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Post-translational modifications for ATP6V1B2 Gene

  • Ubiquitination at Lys 64 and Lys 109
  • Modification sites at PhosphoSitePlus

Other Protein References for ATP6V1B2 Gene

No data available for DME Specific Peptides for ATP6V1B2 Gene

Domains & Families for ATP6V1B2 Gene

Gene Families for ATP6V1B2 Gene

HGNC:
IUPHAR :

Graphical View of Domain Structure for InterPro Entry

P21281

UniProtKB/Swiss-Prot:

VATB2_HUMAN :
  • Belongs to the ATPase alpha/beta chains family.
Family:
  • Belongs to the ATPase alpha/beta chains family.
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: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

Human Phenotype Ontology for ATP6V1B2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ATP6V1B2 Gene

MGI Knock Outs for ATP6V1B2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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 5
extracellular 5
lysosome 5
vacuole 5
plasma membrane 4
mitochondrion 2
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 IEA --
GO:0005765 lysosomal membrane IDA 17897319
GO:0005829 cytosol IEA,TAS --
GO:0005886 plasma membrane IEA,ISS --
genes like me logo Genes that share ontologies with ATP6V1B2: view

Pathways & Interactions 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:0008286 insulin receptor signaling pathway TAS --
GO:0015991 ATP hydrolysis coupled proton transport IEA --
GO:0015992 proton transport TAS 2145275
GO:0016241 regulation of macroautophagy NAS 22982048
GO:0033572 transferrin transport TAS --
genes like me logo Genes that share ontologies with ATP6V1B2: view

No data available for SIGNOR curated interactions for ATP6V1B2 Gene

Drugs & Compounds for ATP6V1B2 Gene

(7) Drugs for ATP6V1B2 Gene - From: DrugBank, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Gallium nitrate Approved, Investigational Pharma Target, inhibitor 6
Water Approved Pharma 0
Adenosine triphosphate Approved Nutra 0
Disulfiram Approved Pharma Reversibly stimulates SERCA Ca2+-ATPase; displays a range of other activities 34
4-(2-AMINOETHYL)BENZENESULFONYL FLUORIDE Experimental Pharma Target 0

(2) Additional Compounds for ATP6V1B2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2

(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
genes like me logo Genes that share compounds with ATP6V1B2: view

Transcripts for ATP6V1B2 Gene

Unigene Clusters for ATP6V1B2 Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 (x5.7).

Protein differential expression in normal tissues from HIPED for ATP6V1B2 Gene

This gene is overexpressed in Brain (8.1), Retina (7.6), and Frontal cortex (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ATP6V1B2 Gene



Protein tissue co-expression partners for ATP6V1B2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ATP6V1B2 Gene:

ATP6V1B2

SOURCE GeneReport for Unigene cluster for ATP6V1B2 Gene:

Hs.295917
genes like me logo Genes that share expression patterns with ATP6V1B2: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for ATP6V1B2 Gene

Orthologs for ATP6V1B2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ATP6V1B2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ATP6V1B2 34
  • 92.3 (n)
  • 99.02 (a)
ATP6V1B2 35
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ATP6V1B2 34
  • 93.35 (n)
  • 98.83 (a)
ATP6V1B2 35
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Atp6v1b2 34
  • 89.43 (n)
  • 99.02 (a)
Atp6v1b2 16
Atp6v1b2 35
  • 99 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ATP6V1B2 34
  • 99.67 (n)
  • 100 (a)
ATP6V1B2 35
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Atp6v1b2 34
  • 90.22 (n)
  • 99.02 (a)
oppossum
(Monodelphis domestica)
Mammalia ATP6V1B2 35
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 86 (a)
OneToMany
-- 35
  • 20 (a)
OneToMany
chicken
(Gallus gallus)
Aves ATP6V1B2 34
  • 83.67 (n)
  • 96 (a)
VATB 35
  • 94 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATP6V1B2 35
  • 94 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atp6v1b2 34
  • 78.64 (n)
  • 93.85 (a)
Str.10560 34
African clawed frog
(Xenopus laevis)
Amphibia vha55-prov 34
zebrafish
(Danio rerio)
Actinopterygii atp6v1b2 34
  • 78.02 (n)
  • 92.91 (a)
atp6v1bb 34
atp6v1b2 35
  • 93 (a)
OneToMany
atp6v1ba 35
  • 91 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11905 34
fruit fly
(Drosophila melanogaster)
Insecta Vha55 36
  • 90 (a)
Vha55 34
  • 72.92 (n)
  • 91.04 (a)
Vha55 35
  • 89 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002884 34
  • 72.15 (n)
  • 90.83 (a)
worm
(Caenorhabditis elegans)
Secernentea vha-12 36
  • 85 (a)
Y110A7A.12 36
  • 77 (a)
spe-5 34
  • 68.81 (n)
  • 79.42 (a)
spe-5 35
  • 76 (a)
ManyToMany
vha-12 35
  • 84 (a)
ManyToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADL380W 34
  • 69.31 (n)
  • 78.76 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D09152g 34
  • 68.29 (n)
  • 79.92 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VMA2 34
  • 67.79 (n)
  • 80.55 (a)
VMA2 35
  • 74 (a)
OneToMany
VMA2 37
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G76030 34
  • 71.25 (n)
  • 80.22 (a)
soybean
(Glycine max)
eudicotyledons Gma.16738 34
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.7007 34
rice
(Oryza sativa)
Liliopsida Os.1592 34
Os06g0568200 34
  • 69.47 (n)
  • 79.74 (a)
corn
(Zea mays)
Liliopsida Zm.6859 34
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14131 34
bread mold
(Neurospora crassa)
Ascomycetes NCU08515 34
  • 65.54 (n)
  • 78.95 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes vma2 34
  • 68.82 (n)
  • 77.66 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 77 (a)
OneToMany
Species where no ortholog for ATP6V1B2 was found in the sources mined by GeneCards:
  • 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

(2) 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
rs730882177 Zimmermann-Laband syndrome 2 (ZLS2) 20,220,320(+) ACTCC(C/G)AATCT reference, missense
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
rs1497019 -- 20,198,841(-) ATTTT(C/G)TAATT intron-variant

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

Variant ID Type Subtype PubMed ID
esv2658730 CNV deletion 23128226
esv3616563 CNV loss 21293372
nsv1033511 CNV gain 25217958
nsv522185 CNV gain 19592680
nsv6107 CNV deletion 18451855
nsv610759 CNV gain 21841781

Variation tolerance for ATP6V1B2 Gene

Residual Variation Intolerance Score: 18.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.44; 43.02% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ATP6V1B2 Gene

Human Gene Mutation Database (HGMD)
ATP6V1B2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATP6V1B2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP6V1B2 Gene

Disorders for ATP6V1B2 Gene

MalaCards: The human disease database

(7) MalaCards diseases for ATP6V1B2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
zimmermann-laband syndrome 2
  • zls2
deafness, congenital, and onychodystrophy, autosomal dominant
  • autosomal dominant deafness-onychodystrophy syndrome
zimmermann-laband syndrome 1
  • laband syndrome
zimmermann-laband syndrome
  • laband syndrome
deafness-onychodystrophy syndrome
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

VATB2_HUMAN
  • Zimmermann-Laband syndrome 2 (ZLS2) [MIM:616455]: A disorder characterized by gingival fibromatosis, dysplastic or absent nails, finger abnormalities, hepatosplenomegaly, and abnormalities of the cartilage of the nose and/or ears. {ECO:0000269 PubMed:24913193, ECO:0000269 PubMed:25915598}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ATP6V1B2

Genetic Association Database (GAD)
ATP6V1B2
Human Genome Epidemiology (HuGE) Navigator
ATP6V1B2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ATP6V1B2
genes like me logo Genes that share disorders with ATP6V1B2: view

No data available for Genatlas 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 65
  2. Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome. (PMID: 25915598) KortA1m F. … Kutsche K. (Nat. Genet. 2015) 3 4 65
  3. De novo mutation in ATP6V1B2 impairs lysosome acidification and causes dominant deafness-onychodystrophy syndrome. (PMID: 24913193) Yuan Y. … Dai P. (Cell Res. 2014) 3 4 65
  4. Novel loci for major depression identified by genome-wide association study of Sequenced Treatment Alternatives to Relieve Depression and meta-analysis of three studies. (PMID: 20038947) Shyn S.I. … Hamilton S.P. (Mol. Psychiatry 2011) 3 46 65
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 65

Products for ATP6V1B2 Gene

Sources for ATP6V1B2 Gene

Content