ATP6V1B2 ATPase H+ transporting V1 subunit B2
Gene ID: 526, updated on 5-Mar-2024Gene type: protein coding
Also known as: DOOD; HO57; VATB; VPP3; Vma2; ZLS2; ATP6B2; ATP6B1B2
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- Go to complete Gene record for ATP6V1B2
- Go to Variation Viewer for ATP6V1B2 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder. GeneReviews: Not available | |
Autosomal dominant deafness - onychodystrophy syndrome | See labs |
Genome-wide and gene-centric analyses of circulating myeloperoxidase levels in the charge and care consortia. GeneReviews: Not available | |
Novel loci for major depression identified by genome-wide association study of Sequenced Treatment Alternatives to Relieve Depression and meta-analysis of three studies. GeneReviews: Not available | |
Zimmermann-Laband syndrome 2 | See labs |
Genomic context
- Location:
- 8p21.3
- Sequence:
- Chromosome: 8; NC_000008.11 (20197381..20221696)
- Total number of exons:
- 14
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | GeneView ReportGo to Variation Viewer for ATP6V1B2 variants |
1000 Genomes | See 1000 Genomes Browser (GRCh37.p13) |
- ATP6V1B2 database
- BioSystemsBioSystems
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SNP: GeneViewSNPs linked from GeneView
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