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FLASH GENE
Symbol ATP6AP2 contributors: mct - updated : 10-02-2014
HGNC name ATPase, H+ transporting, lysosomal accessory protein 2
HGNC id 18305
RNA
TRANSCRIPTS type messenger
text alternatively spliced in multiple tissues including brain (PMID: 23595882)
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
9 - 2044 - 350 - 1998 9556572
8 splicing - - - - -
  • internal deletion of 32 amino acids
  • 9 splicing - - - - -
    containing normally spliced exon 4
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Nervousbrain   highly
    Urinarykidneytubuleconvoluted tubule moderately Homo sapiens
     kidneytubulecollecting duct moderately Homo sapiens
    Visualeyeretina  lowly Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier liningretinal pigment epithelium (RPE) moderately Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta highly
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • an extramembrane catalytic sector
  • the V-type ATPases associated with a single transmembrane proton-conducting sector similar to a region of the human renin receptor 1
  • a large extracellular domain (&
  • 8764;310 AAs)
  • a single transmembrane domain (&
  • 8764;20 AAs)
  • an intracellular domain (&
  • 8764;19 AAs), playing a role in protein oligomerization
    HOMOLOGY
    Homologene
    FAMILY
    CATEGORY enzyme , receptor membrane
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,organelle,lysosome
    intracellular,cytoplasm,cytosolic,vesicle
    text
  • robust expression in the endoplasmic reticulum (ER) or the Golgi but not in the plasma membrane
  • present within the plasma membrane and membranes of some organelles such as endosome, lysosome and secretory vesicle
  • basic FUNCTION
  • playing a fundamental role in energy conservation, secondary active transport, acidification of intracellular compartments
  • playing an essential role for blood pressure control and water-electrolyte balance
  • involved in the development and progression of kidney disease in diabetes by enhancing renal production of the inflammatory cytokines TNF and IL1beta, independent of renal ANGPT2 effects
  • single-pass transmembrane domain protein that is involved in a range of processes such as intracellular pH homeostasis, renin–angiotensin system and WNT signaling
  • brain ATP6AP2 is functional and plays a role in the neural control of cardiovascular functions
  • plays an important role in the development of cardiovascular diseases
  • important component of the renin-angiotensin system (RAS), which regulates blood pressure and cardiovascular function
  • essential accessory component of the vacuolar ATPase required for lysosomal degradative functions and autophagy
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism energetic
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • transmembrane sector of the V-type ATPases
  • renin and prorenin
  • is cleaved by ADAM19 in the Golgi resulting in two fragments, N-terminal and C-terminal fragment
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MRXSH , XPDS
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in the kidney with diabetic nephropathy up to the end-stage renal disease
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS