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

Gene ID: 526, updated on 1-Jun-2020

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
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

Genomic context

See ATP6V1B2 in Genome Data Viewer
Location:
8p21.3
Exon count:
14
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (20197375..20226852)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (20054704..20079207)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105379312 Neighboring gene solute carrier family 18 member A1 Neighboring gene RNA, U6 small nuclear 892, pseudogene Neighboring gene leucine zipper tumor suppressor 1 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
Deafness, congenital, with onychodystrophy, autosomal dominant
MedGen: C2675730 OMIM: 124480 GeneReviews: Not available
Compare labs
Zimmermann-Laband syndrome 2
MedGen: C4225321 OMIM: 616455 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.
NHGRI GWA Catalog
Genome-wide and gene-centric analyses of circulating myeloperoxidase levels in the charge and care consortia.
NHGRI GWA 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.
NHGRI GWA 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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
hydrolase activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
proton transmembrane transporter activity TAS
Traceable Author Statement
more info
PubMed 
proton-transporting ATPase activity, rotational mechanism TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
ATP metabolic process IEA
Inferred from Electronic Annotation
more info
 
insulin receptor signaling pathway TAS
Traceable Author Statement
more info
 
ion transmembrane transport TAS
Traceable Author Statement
more info
 
phagosome acidification TAS
Traceable Author Statement
more info
 
proton transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
regulation of macroautophagy NAS
Non-traceable Author Statement
more info
PubMed 
transferrin transport TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
apical plasma membrane IEA
Inferred from Electronic Annotation
more info
 
cell IEA
Inferred from Electronic Annotation
more info
 
cytosol ISS
Inferred from Sequence or Structural Similarity
more info
 
cytosol TAS
Traceable Author Statement
more info
 
endomembrane system IEA
Inferred from Electronic Annotation
more info
 
extracellular exosome HDA PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
lysosomal membrane HDA PubMed 
melanosome IEA
Inferred from Electronic Annotation
more info
 
microvillus IEA
Inferred from Electronic Annotation
more info
 
plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
proton-transporting V-type ATPase, V1 domain IEA
Inferred from Electronic Annotation
more info
 
ruffle IEA
Inferred from Electronic Annotation
more info
 

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)

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
    P21281
    UniProtKB/TrEMBL
    A0A140VK65
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    20197375..20226852
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_002956633.1 RNA Sequence

  2. XR_002956632.1 RNA Sequence

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