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    ATP6V1B2 ATPase H+ transporting V1 subunit B2 [ Homo sapiens (human) ]

    Gene ID: 526, updated on 5-May-2024

    Summary

    Official Symbol
    ATP6V1B2provided by HGNC
    Official Full Name
    ATPase H+ transporting V1 subunit B2provided by HGNC
    Primary source
    HGNC:HGNC:854
    See related
    Ensembl:ENSG00000147416 MIM:606939; AllianceGenome:HGNC:854
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DOOD; HO57; VATB; VPP3; Vma2; ZLS2; ATP6B2; ATP6B1B2
    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]
    Expression
    Ubiquitous expression in brain (RPKM 48.6), kidney (RPKM 28.3) and 24 other tissues See more
    Orthologs
    NEW
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    Genomic context

    Location:
    8p21.3
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (20197381..20221696)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (20462474..20486792)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (20054892..20079207)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105379312 Neighboring gene solute carrier family 18 member A1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:20021901-20023100 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18971 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27064 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:20087870-20088370 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:20091705-20092214 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:20092215-20092724 Neighboring gene RNA, U6 small nuclear 892, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:20106535-20107076 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:20107077-20107620 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:20112843-20113026 Neighboring gene leucine zipper tumor suppressor 1 Neighboring gene Sharpr-MPRA regulatory region 10012 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27065 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:20129385-20129920 Neighboring gene LZTS1 antisense RNA 1 Neighboring gene RNA, 5S ribosomal pseudogene 257

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Autosomal dominant deafness - onychodystrophy syndrome
    MedGen: C2675730 OMIM: 124480 GeneReviews: Not available
    Compare labs
    Zimmermann-Laband syndrome 2
    MedGen: C4225321 OMIM: 616455 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.
    EBI GWAS Catalog
    Genome-wide and gene-centric analyses of circulating myeloperoxidase levels in the charge and care consortia.
    EBI GWAS Catalog
    Novel loci for major depression identified by genome-wide association study of Sequenced Treatment Alternatives to Relieve Depression and meta-analysis of three studies.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Vpr vpr A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies upregulation of ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2 (ATP6V1B2) expression by HIV-1 Vpr in Vpr transduced macrophages PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables proton transmembrane transporter activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables proton-transporting ATPase activity, rotational mechanism IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    involved_in ATP metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in proton transmembrane transport TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of macroautophagy NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in synaptic vesicle lumen acidification IEA
    Inferred from Electronic Annotation
    more info
     
    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 clathrin-coated vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in extrinsic component of synaptic vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    located_in lysosomal membrane HDA PubMed 
    located_in melanosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in microvillus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in ruffle IEA
    Inferred from Electronic Annotation
    more info
     
    part_of vacuolar proton-transporting V-type ATPase, V1 domain IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    V-type proton ATPase subunit B, brain isoform
    Names
    ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2
    H+ transporting two-sector ATPase
    V-ATPase B2 subunit
    V-ATPase subunit B 2
    endomembrane proton pump 58 kDa subunit
    testicular secretory protein Li 65
    vacuolar H+-ATPase 56,000 subunit
    vacuolar proton pump subunit B 2
    NP_001684.2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_047013.1 RefSeqGene

      Range
      5189..29504
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001693.4NP_001684.2  V-type proton ATPase subunit B, brain isoform

      See identical proteins and their annotated locations for NP_001684.2

      Status: REVIEWED

      Source sequence(s)
      AC025853, BC007309, BC030640, X62949
      Consensus CDS
      CCDS6014.1
      UniProtKB/Swiss-Prot
      B2R5Z3, D3DSQ5, P21281, Q14544, Q15859, Q96IR0
      UniProtKB/TrEMBL
      A0A140VK65, Q71UA2
      Related
      ENSP00000276390.2, ENST00000276390.7
      Conserved Domains (1) summary
      TIGR01040
      Location:46509
      V-ATPase_V1_B; V-type (H+)-ATPase V1, B subunit

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      20197381..20221696
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      20462474..20486792
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)