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FLASH GENE
Symbol ATP6V1B2 contributors: mct - updated : 03-09-2019
HGNC name ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B, isoform 2
HGNC id 854
Corresponding disease
DDOD deafness, congenital, with onychodystrophy, autosomal dominant
ZLS2 Zimmermann-Laband syndrome 2
Location 8p21.3      Physical location : 20.054.703 - 20.079.205
Synonym symbol(s) VPP3, ATP6B2, M057, VATB, ATP6B1B2, HO57, Vma2, ZLS2
EC.number 3.6.3.34/ 7.1.2.2
DNA
TYPE functioning gene
STRUCTURE 29.48 kb     14 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Map pter - D8S258 - ATP6V1B2 - D8S286 - D8S282 - D8S560 - cen
Authors GeneMap (98)
Physical map
NAT1 8p22 N-acetyltransferase 1 (arylamine N-acetyltransferase) LOC392205 8 similar to acetyltransferase LOC392206 8 similar to ribosomal protein L10a NAT2 8p22 N-acetyltransferase 2 (arylamine N-acetyltransferase) DKFZp761K1423 8p22 hypothetical protein DKFZp761K1423 EFA6R 8pter-p23.3 hypothetical protein DKFZp761K1423 LOC389637 8 LOC389637 LOC389638 8 LOC389638 LOC392207 8 similar to PMCA2av FLJ20967 8p21.2 hypothetical protein FLJ20967 ChGn 8p21.3 chondroitin beta1,4 N-acetylgalactosaminyltransferase FLJ10569 8p21.3 hypothetical protein FLJ10569 LPL 8p22 lipoprotein lipase SLC18A1 8p21.3 solute carrier family 18 (vesicular monoamine), member 1 ATP6V1B2 8p22 ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B, isoform 2 LZTS1 8p22 leucine zipper, putative tumor suppressor 1 RNU3P2 8p21.3 RNA, U3 small nucleolar pseudogene 2 LOC286114 8p21.3 hypothetical protein LOC286114 GFRA2 8p22-p21 GDNF family receptor alpha 2 DOK2 8p21.2 docking protein 2, 56kDa XPO7 8p21 exportin 7 NPM2 8p21.3 nucleophosmin/nucleoplasmin, 2 FGF17 8p21 fibroblast growth factor 17 EPB49 8p21.1 erythrocyte membrane protein band 4.9 (dematin) RAI16 8p21.2 retinoic acid induced 16 FLJ22494 8p21.3 hypothetical protein FLJ22494 HR 8p22-p21 hairless homolog (mouse)
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
14 - 2856 - 511 - 2015 25915598
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousbrain    
Skeleton    highly Homo sapiens
Urinarykidney    
cells
SystemCellPubmedSpeciesStageRna symbol
Skeletonosteoclast Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
Homologene
FAMILY V-ATPase family
CATEGORY enzyme , transport carrier
SUBCELLULAR LOCALIZATION extracellular
    plasma membrane
    intracellular
intracellular,cytoplasm,organelle,membrane
intracellular,cytoplasm,organelle,lysosome
basic FUNCTION
  • ATPase synthase H+ transporting,catalytic subunit of the peripheral V1 complex of the vacuolar proton pump
  • in addition to its role in the acidification of intracellular organelles, the B2 isoform could also contribute to transepithelial proton secretion and the maintenance of acid-base homeostasis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • component of the heteromultimeric complex composed of a peripheral catalytic V1 complex attached to an integral V0 membrane pore complex
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • ATP6V1B2 is a molecular target of SIRT1 in fat cells
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ZLS2 , DDOD
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS