Atp6v1b2 ATPase, H+ transporting, lysosomal V1 subunit B2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Atp6v1b2provided by MGI
Official Full Name: ATPase, H+ transporting, lysosomal V1 subunit B2provided by MGI
Primary source: MGI:MGI:109618
See related: Ensembl:ENSMUSG00000006273 AllianceGenome:MGI:109618
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: HO57; Atp6b2
Summary: Predicted to enable proton-transporting ATPase activity, rotational mechanism. Involved in synaptic vesicle lumen acidification. Located in several cellular components, including apical plasma membrane; microvillus; and ruffle. Is expressed in several structures, including alimentary system; genitourinary system; integumental system; nervous system; and sensory organ. Used to study autosomal dominant congenital deafness with onychodystrophy and epilepsy. Human ortholog(s) of this gene implicated in autosomal dominant congenital deafness with onychodystrophy. Orthologous to human ATP6V1B2 (ATPase H+ transporting V1 subunit B2). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in cerebellum adult (RPKM 121.3), cortex adult (RPKM 113.1) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 8 B3.3; 8 33.88 cM

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	8	NC_000074.7 (69541388..69566370)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	8	NC_000074.6 (69088736..69113718)

Chromosome 8 - NC_000074.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The ATP6V1B2 DDOD/DOORS-Associated p.Arg506* Variant Causes Hyperactivity and Seizures in Mice.
Title: The ATP6V1B2 DDOD/DOORS-Associated p.Arg506* Variant Causes Hyperactivity and Seizures in Mice.
Overexpression of V-ATPase B2 attenuates lung injury/fibrosis by stabilizing lysosomal membrane permeabilization and increasing collagen degradation.
Title: Overexpression of V-ATPase B2 attenuates lung injury/fibrosis by stabilizing lysosomal membrane permeabilization and increasing collagen degradation.
atp6v1b2 knockdown zebrafish showed developmental defects in multiple organs and systems. However, Atp6v1b2 c.1516C>T knockin mice displayed obvious cognitive defects but normal hearing and cochlear morphology. Impaired hippocampal CA1 region and weaker interaction between the V1E and B2 subunits in Atp6v1b2(Arg506X//Arg506X) mice were observed
Title: A subunit of V-ATPases, ATP6V1B2, underlies the pathology of intellectual disability.
ATP6V1B2 is a molecular target of SIRT1 in fat cells.
Title: SIRT1 Interacts with and Deacetylates ATP6V1B2 in Mature Adipocytes.
Disruption of vacuolar H+-ATPase a3-B2 subunit interaction inhibited osteoclast bone resorption.
Title: Inhibition of osteoclast bone resorption by disrupting vacuolar H+-ATPase a3-B2 subunit interaction.
the activity of apical B2-containing V-ATPase holoenzymes in A intercalated cells is sufficient to maintain baseline acid-base homeostasis
Title: Compensatory membrane expression of the V-ATPase B2 subunit isoform in renal medullary intercalated cells of B1-deficient mice.
Redistribution of Atp6v1b2 occurs from intracellular compartments into the apical membrane of epididymal clear cells from Atp6v1b1(-/-) mice.
Title: Relocalization of the V-ATPase B2 subunit to the apical membrane of epididymal clear cells of mice deficient in the B1 subunit.
expressed in most, if not all, proton-secreting cells in the epithelium lining the nephron and the collecting ducts, and it is also present in proton-secreting clear cells of the epididymis
Title: Expression of the 56-kDa B2 subunit isoform of the vacuolar H(+)-ATPase in proton-secreting cells of the kidney and epididymis.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2) 1 citation
Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Atp6v1b2 (e-PCR), detects polymorphism
- UniSTS:516098

AI790362 (e-PCR)
- UniSTS:179751

Atp6b1 (e-PCR), detects polymorphism
- UniSTS:141135

Atp6b1 (e-PCR), detects polymorphism
- UniSTS:141136

RH125116 (e-PCR)
- UniSTS:161938

Atp6v1b2 (e-PCR), detects polymorphism
- UniSTS:527051

U13838 (e-PCR)
- UniSTS:125679

RH135917 (e-PCR)
- UniSTS:209914

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables proton-transporting ATPase activity, rotational mechanism	IBA Inferred from Biological aspect of Ancestor more info
enables proton-transporting ATPase activity, rotational mechanism	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in ATP metabolic process	IEA Inferred from Electronic Annotation more info
involved_in synaptic vesicle lumen acidification	EXP Inferred from Experiment more info	PubMed
involved_in synaptic vesicle lumen acidification	IDA Inferred from Direct Assay more info	PubMed
involved_in synaptic vesicle lumen acidification	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in vacuolar acidification	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in apical plasma membrane	ISO Inferred from Sequence Orthology more info
located_in clathrin-coated vesicle membrane	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in extrinsic component of synaptic vesicle membrane	IEA Inferred from Electronic Annotation more info
is_active_in extrinsic component of synaptic vesicle membrane	ISO Inferred from Sequence Orthology more info
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
located_in melanosome	IEA Inferred from Electronic Annotation more info
located_in microvillus	IDA Inferred from Direct Assay more info	PubMed
located_in myelin sheath	HDA more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in ruffle	IDA Inferred from Direct Assay more info	PubMed
part_of vacuolar proton-transporting V-type ATPase, V1 domain	ISO Inferred from Sequence Orthology more info
part_of vacuolar proton-transporting V-type ATPase, V1 domain	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: V-type proton ATPase subunit B, brain isoform

Names: ATPase, H+ transporting, V1 subunit B; ATPase, H+ transporting, lysosomal (vacuolar proton pump), beta 56/58 kDa; ATPase, H+ transporting, lysosomal 56/58kD, V1 subunit B; V-ATPase subunit B 2; endomembrane proton pump 58 kDa subunit; lysosomal 56/58kDa; vacuolar proton pump subunit B 2

NP_031535.2

EC 7.1.2.2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.