Seroatlas · Human Serome Atlas

ATP6V1B2

V-type proton ATPase subunit B, brain isoform

Also known as: ATP6B2, HO57, VATB, VATB2_HUMAN, Vma2, VPP3

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: P21281
Gene: ATP6V1B2
Ensembl: ENSG00000147416
Chromosome: 8
Canonical length: 511 aa
Protein class: Disease related genes, FDA approved drug targets, Human disease related genes, Metabolic proteins, Predicted intracellular proteins, Transporters
Subcellular location: Vesicles

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

511 residues, UniProt reviewed canonical sequence.

>P21281|ATP6V1B2
     1  MALRAMRGIV NGAAPELPVP TGGPAVGARE QALAVSRNYL SQPRLTYKTV SGVNGPLVIL
    61  DHVKFPRYAE IVHLTLPDGT KRSGQVLEVS GSKAVVQVFE GTSGIDAKKT SCEFTGDILR
   121  TPVSEDMLGR VFNGSGKPID RGPVVLAEDF LDIMGQPINP QCRIYPEEMI QTGISAIDGM
   181  NSIARGQKIP IFSAAGLPHN EIAAQICRQA GLVKKSKDVV DYSEENFAIV FAAMGVNMET
   241  ARFFKSDFEE NGSMDNVCLF LNLANDPTIE RIITPRLALT TAEFLAYQCE KHVLVILTDM
   301  SSYAEALREV SAAREEVPGR RGFPGYMYTD LATIYERAGR VEGRNGSITQ IPILTMPNDD
   361  ITHPIPDLTG YITEGQIYVD RQLHNRQIYP PINVLPSLSR LMKSAIGEGM TRKDHADVSN
   421  QLYACYAIGK DVQAMKAVVG EEALTSDDLL YLEFLQKFER NFIAQGPYEN RTVFETLDIG
   481  WQLLRIFPKE MLKRIPQSTL SEFYPRDSAK H

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ATP6V1B2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Cell surface
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.27
Highest tissue expression: 200 nTPM

Expression across tissuesHPA

Tissue

cerebral cortex: 200 nTPM
retina: 191 nTPM
kidney: 136 nTPM
hypothalamus: 135 nTPM
midbrain: 123 nTPM
cerebellum: 112 nTPM

Single-cell type

neutrophils: 524 nCPM
monocytes: 270 nCPM
kupffer cells: 199 nCPM
late primary spermatocytes: 187 nCPM
macrophages: 183 nCPM
melanocytes: 182 nCPM

Immune cell

neutrophil: 1,134 nTPM
classical monocyte: 683 nTPM
total PBMC: 622 nTPM
intermediate monocyte: 619 nTPM
non-classical monocyte: 579 nTPM
eosinophil: 487 nTPM

Brain region

pons: 265 nTPM
hypothalamus: 258 nTPM
cerebral cortex: 230 nTPM
midbrain: 228 nTPM
basal ganglia: 204 nTPM
thalamus: 181 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ATP6V1B2.

Disease | AllUniProt

Conditions ATP6V1B2 is implicated in, by any mechanism.

Zimmermann-Laband syndrome 2 (ZLS2) MIM:616455
Deafness, congenital, with onychodystrophy, autosomal dominant (DDOD) MIM:124480

Disease | GeneticClinVar

18 pathogenic / likely-pathogenic of 200 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Zimmermann-Laband syndrome 2
Autosomal dominant deafness - onychodystrophy syndrome
Inborn genetic diseases
Zimmermann-Laband syndrome 1
Neurodevelopmental delay

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.29
gnomAD pLI: 0.99
gnomAD missense Z: 2.49
DepMap mean gene effect: -1.82
DepMap dependency class: pan

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of ATP6V1B2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads ATP6V1B2 as an antibody target. Whether an autoantibody or antibody against ATP6V1B2 could matter depends on whether native ATP6V1B2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ATP6V1B2 is annotated at the cell surface, where native ATP6V1B2 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label ATP6V1B2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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