Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol ATP6AP2 contributors: mct - updated : 10-02-2014
HGNC name ATPase, H+ transporting, lysosomal accessory protein 2
HGNC id 18305
Corresponding disease
MRXSH mental retardation, X-linked, syndromic, Hedera type
XPDS Parkinsonism with spasticity, X-linked
Location Xp11.4      Physical location : 40.440.215 - 40.465.886
Synonym name
  • renin receptor
  • ATPase, H+ transporting, lysosomal interacting protein 2
  • V-ATPase M8.9 subunit
  • renin/prorenin receptor
  • vacuolar ATP synthase membrane sector-associated protein M8-9
  • Synonym symbol(s) ATP6M8-9, M8-9, ATP6IP2, ELDF10, MRXE, MSTP009, XMRE, (P)RR
    DNA
    TYPE functioning gene
    STRUCTURE 25.67 kb     9 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    SC4MOP Xp21.1 sterol-C4-methyl oxidase pseudogene HYPM Xp21.1 sterol-C4-methyl oxidase pseudogene LOC340549 Xp21.1 similar to RIKEN cDNA 1700113O17 SYTL5 Xp21.1 synaptotagmin-like 5 SRPX Xp21.1 sushi-repeat-containing protein, X chromosome LOC286441 Xp21.1 hypothetical LOC286441 RPGR Xp21.1 retinitis pigmentosa GTPase regulator OTC Xp21.1 ornithine carbamoyltransferase LOC392442 X similar to BAG-family molecular chaperone regulator-1 (BCL-2 binding athanogene-1) (BAG-1) (Glucocorticoid receptor-associated protein RAP46) LOC392443 X similar to ferritin light chain LOC392444 X similar to Nucleolar transcription factor 1 (Upstream binding factor 1) (UBF-1) TM4SF2 Xp11.4-q11 transmembrane 4 superfamily member 2 LOC389845 X LOC389845 STRAIT11499 Xp11.4 hypothetical protein STRAIT11499 LOC389846 X hypothetical gene supported by BC043536 GAPDP1 Xp11.4-p11.23 glyceraldehyde-3-phosphate dehydrogenase pseudogene 1 LOC392445 X similar to 40S ribosomal protein S11 BCOR Xp11.4 BCL6 co-repressor LOC158624 Xp11.4 similar to IMP dehydrogenase (EC 1.1.1.205) I - human ATP6AP2 Xq21 ATPase, H+ transporting, lysosomal accessory protein 2 LOC347411 Xp11.4 similar to ENSANGP00000015797 MGC39350 Xp11.4 hypothetical protein MGC39350 CRSP2 Xp11.2-p11.4 cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa LOC392446 X similar to claudin 7; Clostridium perfringens enterotoxin receptor-like 2; claudin 9 MKRN4 Xp21.1 makorin, ring finger protein, 4 LOC392447 X similar to 60S ribosomal protein L32 LOC286444 Xp11.4 similar to ribosomal protein S2; 40S ribosomal protein S2 LOC392448 X similar to Chloride intracellular channel protein 4 (mc3s5/mtCLIC) USP9X Xp11.4 ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila) DDX3X Xp11.3-p11.23 DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked NYX Xp11.4 nyctalopin CASK Xp11.4 calcium/calmodulin-dependent serine protein kinase (MAGUK family) LOC158781 Xp11.4 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta pseudogene GPR34 Xp11.4-p11.3 G protein-coupled receptor 34 GPR82 Xp11.4 G protein-coupled receptor 82 I-4 Xp11.4-Xp11.3 type 1 protein phosphatase inhibitor
    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