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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
  • Alliance
    gene page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:69541388-69566370 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 8, 33.88 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    695 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_109618
 protein coding gene Chr8:69541298-69566370 (+)
129S1/SvImJ MGP_129S1SvImJ_G0033665
 protein coding gene Chr8:69235578-69263380 (+)
A/J MGP_AJ_G0033647
 protein coding gene Chr8:66440795-66465840 (+)
AKR/J MGP_AKRJ_G0033572
 protein coding gene Chr8:68267255-68292127 (+)
BALB/cJ MGP_BALBcJ_G0033643
 protein coding gene Chr8:66660615-66686224 (+)
C3H/HeJ MGP_C3HHeJ_G0033353
 protein coding gene Chr8:68982995-69007860 (+)
C57BL/6NJ MGP_C57BL6NJ_G0034160
 protein coding gene Chr8:71847526-71872143 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0031107
 protein coding gene Chr8:61316302-61341035 (+)
CAST/EiJ MGP_CASTEiJ_G0032678
 protein coding gene Chr8:68436204-68461386 (+)
CBA/J MGP_CBAJ_G0033331
 protein coding gene Chr8:74525148-74549967 (+)
DBA/2J MGP_DBA2J_G0033485
 protein coding gene Chr8:66154252-66179151 (+)
FVB/NJ MGP_FVBNJ_G0033426
 protein coding gene Chr8:65305586-65330748 (+)
LP/J MGP_LPJ_G0033573
 protein coding gene Chr8:69368219-69393459 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0033470
 protein coding gene Chr8:77187369-77215913 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0034178
 protein coding gene Chr8:68528652-68553514 (+)
PWK/PhJ MGP_PWKPhJ_G0032387
 protein coding gene Chr8:65409328-65434792 (+)
SPRET/EiJ MGP_SPRETEiJ_G0032223
 protein coding gene Chr8:67507523-67534669 (+)
WSB/EiJ MGP_WSBEiJ_G0032795
 protein coding gene Chr8:68910113-68935388 (+)



Homology
more
  • Human Ortholog
    ATP6V1B2, ATPase H+ transporting V1 subunit B2
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ATP6V1B2, ATPase H+ transporting V1 subunit B2
  • Synonyms
    ATP6B1B2, ATP6B2, DOOD, HO57, VATB, Vma2, VPP3, ZLS2
  • Links
    NCBI Gene ID: 526
    neXtProt AC: NX_P21281
    UniProt: P21281

  • Chr Location
    8p21.3; chr8:20197381-20226819 (+)  GRCh38
Human Diseases
more
  • Diseases
    2 with Atp6v1b2 mouse models; 1 with human ATP6V1B2 associations

Human Disease Mouse Models
      
IDs
 View 2 models
      
IDs
 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    26 phenotypes from 3 alleles in 3 genetic backgrounds
    15 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.
Mice homozygous for a single point mutation show slow postnatal weight gain, abnormal hippocampus CA1 region morphology, cognitive deficits, and environmentally induced seizures. Homozygosity for the p.R506* mutation leads to hyperactivity, decreased anxiety, lower chemically induced seizure threshold and stimuli-induced seizures.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    25
  • GO References
    17
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    984
  • Tissues
    148
  • cDNA Data
    458
  • Literature Summary
    16
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 11966 NCBI Gene Model | MGI Sequence Detail 24983 C57BL/6J ±  kb
    transcript NM_007509 RefSeq | MGI Sequence Detail 2742 C57BL/6  
    polypeptide P62814 UniProt | EBI | MGI Sequence Detail 511 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      3 Sequences
    • Protein Ontology
      PR:000004482 V-type proton ATPase subunit B, brain isoform
      (term hierarchy)
    • PDB
      9BRA, 9BRQ, 9BRR, 9BRS, 9BRT, 9BRU
    • InterPro Domains
      IPR020003 ATPase, alpha/beta subunit, nucleotide-binding domain, active site
      IPR004100 ATPase, F1/V1/A1 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
    • GlyGen
      P62814 2 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 464
      cDNA 459
      Primer pair 4
      Other 1

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGD-MRK-39617, MGI:2142474, MGI:2142617, MGI:2142893
    References
    more
    • Summaries
      All 72
      Developmental Gene Expression 16
      Diseases 2
      Gene Ontology 17
      Phenotypes 15
    • 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:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory