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Atp6v1b2 Gene Detail
Summary
  • Symbol
    Atp6v1b2
  • Name
    ATPase, H+ transporting, lysosomal V1 subunit B2
  • Synonyms
    Atp6b2, HO57
  • Feature Type
    protein coding gene
  • IDs
    MGI:109618
    NCBI Gene: 11966
  • Gene Overview
    MyGene.info: ATP6V1B2
Location & Maps
more
  • Sequence Map
    Chr8:69088646-69113711 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      25066 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 8, 33.88 cM
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    ATP6V1B2, ATPase H+ transporting V1 subunit B2
  • Vertebrate Orthologs
    10
  • Human Ortholog
    ATP6V1B2, ATPase H+ transporting V1 subunit B2
    Orthology source: HGNC, HomoloGene
  • Synonyms
    ATP6B1B2, ATP6B2, DOOD, HO57, VATB, Vma2, VPP3, ZLS2
  • Links
    NCBI Gene ID: 526
    neXtProt AC: NX_P21281

  • Chr Location
    8p21.3; chr8:20197193-20221696 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with human ATP6V1B2 associations

Human Disease Mouse Models
       Deafness, Congenital, with Onychodystrophy, Autosomal Dominant; DDOD   OMIM: 124480
Zimmermann-Laband Syndrome 2; ZLS2   OMIM: 616455
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    6 phenotypes from 1 allele in 1 genetic background
    9 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    8
  • Chemically induced (other)
    1
  • Gene trapped
    4
  • Targeted
    3
  • Genomic Mutations
    1 involving Atp6v1b2
  • Incidental Mutations
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000025651 VEGA Gene Model | MGI Sequence Detail 25066 C57BL/6J ±  kb
transcript OTTMUST00000063125 VEGA | MGI Sequence Detail 2825 Not Applicable  
polypeptide OTTMUSP00000031184 VEGA | MGI Sequence Detail 511 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    296 from dbSNP Build 142
Protein
Information
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  • UniProt
    2 Sequences
  • Protein Ontology
    PR:000004482 V-type proton ATPase subunit B, brain isoform
  • InterPro Domains
    IPR020003 ATPase, alpha/beta subunit, nucleotide-binding domain, active site
    IPR004100 ATPase, F1 complex alpha/beta subunit, N-terminal domain
    IPR000194 ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain
    IPR005723 ATPase, V1 complex, subunit B
    IPR027417 P-loop containing nucleoside triphosphate hydrolase
    IPR022879 V-type ATP synthase regulatory subunit B/beta
Molecular
Reagents
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  • All nucleic 462
    cDNA 458
    Primer pair 3
    Other 1

    Microarray probesets 7
Other
Accession IDs
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MGD-MRK-39617, MGI:2142474, MGI:2142617, MGI:2142893
References
more
  • Summaries
    All 48
    Developmental Gene Expression 9
    Gene Ontology 10
    Phenotypes 9
  • Earliest
    J:20867 van Hille B, et al., Heterogeneity of vacuolar H(+)-ATPase: differential expression of two human subunit B isoforms. Biochem J. 1994 Oct 1;303(Pt 1):191-8
  • Latest
    J:211452 Yang DQ, et al., V-ATPase subunit ATP6AP1 (Ac45) regulates osteoclast differentiation, extracellular acidification, lysosomal trafficking, and protease exocytosis in osteoclast-mediated bone resorption. J Bone Miner Res. 2012 Aug;27(8):1695-707

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/12/2016
MGI 6.04
The Jackson Laboratory