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FLASH GENE
Symbol LAMP2 contributors: mct/npt/pgu - updated : 07-07-2021
HGNC name lysosomal-associated membrane protein 2
HGNC id 6501
DNA
TYPE functioning gene
STRUCTURE 43.20 kb     9 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Map cen - DXS287 - DXS8110 - DXS1059 - DXS11 - DXS6804 - DXS1072 - DXS8088 - DXS1220 - DXS8055 - DXS424 - DXS6805 - DXS8081 - DXS1305 - SLC25A5 - DXS8328 - DXS7521 - LAMP2 - DXS1001 - DXS7095 - DXS8059 - qter
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
9 - 6603 - 410 - 2008 18836458
  • variant A
  • functions as a receptor for chaperone-mediated autophagy and is released from lysosomal membrane after cleavage between Phe 375 and Leu 376 residues by the protective protein (HPP) (Esposito 2009)
  • 9 splicing 4076 - 410 highly in skeletal muscle, less in brain, lacenta,lung, kidney, pancreas,lowly in liver 2008 18836458
    variant B
    9 - 3767 - 411 - 2008 18836458
    variant C
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   highly
    Endocrineparathyroid   highly
    Lymphoid/Immunethymus   highly
    Nervousbrain   highly
    Respiratoryrespiratory tracttrachea  highly
    Urinarykidney   lowly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier liningretinal pigment epithelium (RPE)   Homo sapiens
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticneutrophil
    Cardiovascularendothelial cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period puberty, pregnancy
    Text
  • highly in placenta
  • present throughout the complete process of spermiogenesis
  • PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two extracellular N glycosylation sites
  • a transmembrane segment
  • a short cytoplasmic tail
  • conjugated GlycoP
    HOMOLOGY
    Homologene
    FAMILY
  • LAMP family
  • CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,organelle,lysosome
    text
  • type 1 membrane protein
  • shuttles between lysosomes and the cell membrane
  • basic FUNCTION
  • playing a role in protection of the lysosomal membrane from autodigestion and maintenance of the acidic environment of the lysosome
  • has established roles in adhesion and cellular homeostasis, including autophagocytosis and antigen presentation
  • LAMP1 and LAMP2 are delivered to phagosomes during the maturation process
  • participates in chaperone-mediated autophagy, lysosome biogenesis, lysosome-autophagosome fusion, and lysosome locomotion along microtubule tracts toward phagosomes
  • may be involved the pathogenesis of accessory AV connections
  • may participate in chaperone-mediated autophagy.Autophagy regulates T-lymphocyte homeostasis by promoting both survival and proliferation
  • WDFY1 and LAMP2 can likely influence MTORC1 activity and regulate autophagy
  • LAMP1 and LAMP2 have distinct functions, and the presence of both proteins together is required for the essential regulation of autophagy to avoid embryonic lethality
  • plays a critical role in lysosomal biogenesis and maturation of autophagosomes/phagosomes
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • constituent of membrane
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • LAMP2 attenuates EMT by suppressing SNAI1 expression in hepatocellular carcinoma (HCC)
  • LGALS9 is enriched in lysosomes and predominantly binds to lysosome-associated membrane protein 2 (LAMP2) in a Asn(N)-glycan dependent manner
  • cell & other
  • lysosomal associated
  • REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) GSD2B
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in rimmed vacuoles
    constitutional     --low  
    may contribute to the formation of basal laminar deposits (BLamDs) in age-related macular degeneration (AMD)
    constitutional     --over  
    can improve autophagic flux blockade probably by promoting the trafficking of cathepsins and consequently conferring cardiomyocyte resistance against lysosomal cell death (LCD) that is induced by ischemic injury
    Susceptibility
  • to pauci-immune focal necrotizing glomerulonephritis
  • to accessory atrioventricular connections
  • Variant & Polymorphism other infection with fimbriated bacteria induces autoantibodies to LAMP2 through molecular mimicry and these antibodies bind microvascular endothelium and cause injury
    Candidate gene for MEAX
    Marker
  • High expression of LAMP2 predicts poor prognosis in patients with esophageal squamous cell carcinoma (ESCC)
  • Therapy target
    ANIMAL & CELL MODELS
  • deletion of the Lamp2 gene in mice resulted in age-dependent autofluorescence abnormalities of the fundus, thickening of Bruch's membrane 7)