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FLASH GENE
Symbol LAMP2 contributors: mct/npt/pgu - updated : 14/10/2008
HGNC name lysosomal-associated membrane protein 2
HGNC id 6501
Corresponding disease
GSD2B glycogene storage disease, type II, Danon disease
Location Xq24      Physical location : 119.560.003 - 119.603.204
Synonym name
  • lysosome-associated membrane protein-2
  • lysosomal-associated membrane protein 2C
  • CD107 antigen-like family member B
  • CD107b antigen
  • Synonym symbol(s) LAMPB, CD107b, LMP2, LAMP-2, LGP110
    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
    Physical map
    KIAA1210 Xq24 KIAA1210 protein LOC389883 X similar to Hnrpa1 protein PGRMC1 Xq22-q24 progesterone receptor membrane component 1 LOC139516 Xq24 similar to DNA segment on chromosome X and Y (unique) 155 expressed sequence; Pseudoautosomal gene XE7 (Y chromosome) MRPS17P9 Xq24 similar to DNA segment on chromosome X and Y (unique) 155 expressed sequence; Pseudoautosomal gene XE7 (Y chromosome) LOC203427 Xq24 similar to solute carrier family 25 , member 16 SLC25A5 Xq24-q26 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 FLJ22965 Xq23 hypothetical protein FLJ22965 UBE2A Xq24-q25 ubiquitin-conjugating enzyme E2A (RAD6 homolog) NRF Xq24-q25 ubiquitin-conjugating enzyme E2A (RAD6 homolog) SEPT6 Xq24 ubiquitin-conjugating enzyme E2A (RAD6 homolog) LOC347454 Xq25 similar to hypothetical protein A630014H24 RPL39 Xq22.1-q22.2 ribosomal protein L39 LOC158796 Xq25 similar to UPF3 regulator of nonsense transcripts homolog B isoform 2 UPF3B Xq25-q26 UPF3 regulator of nonsense transcripts homolog B (yeast) ZNF183 Xq24-q25 zinc finger protein 183 (RING finger, C3HC4 type) NDUFA1 Xq24 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa AKAP28 Xq25 A-kinase anchor protein 28 NKAP Xq25 NF-kappaB activating protein OTEX Xq25 paired-like homeobox protein OTEX LOC392530 X similar to hypothetical protein FLJ22626 PEPP-2 Xq25 PEPP subfamily gene 2 LOC340576 Xq25 similar to eukaryotic translation elongation factor 1 alpha 1; CTCL tumor antigen; translation elongation factor 1 alpha 1-like 14; prostate tumor-inducing protein 1; EF1a-like protein; glucocorticoid receptor AF-1 specific elongati FLJ36576 Xq25 hypothetical protein FLJ36576 ZNF-kaiso Xq23 kaiso FLJ20716 Xq25 hypothetical protein FLJ20716 ATP1B4 Xq24 ATPase, (Na+)/K+ transporting, beta 4 polypeptide LAMP2 Xq24 lysosomal-associated membrane protein 2 RNU7P1 Xq25 RNA, U7 small nuclear pseudogene 1 RNU7P2 Xq25 RNA, U7 small nuclear pseudogene 2 CUL4B Xq23 cullin 4B MCTS1 Xq22-24 malignant T cell amplified sequence 1 C1GALT2 Xq25 core 1 UDP-galactose:N-acetylgalactosamine-alpha-R beta 1,3-galactosyltransferase 2 LOC392531 X similar to RIKEN cDNA 2900070E19 LOC389884 X similar to Proliferation-associated protein 2G4 (Cell cycle protein p38-2G4 homolog) (hG4-1) LOC255313 Xq25 hypothetical protein LOC255313 GLUD2 Xq25 glutamate dehydrogenase 2 LOC158714 Xq25 heat shock 70kDa protein 8 pseudogene
    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
    Epithelialsecretoryglandularendocrine 
    Epithelialsecretoryglandularexocrine 
    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     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
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • constituent of membrane
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
    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
    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
    Therapy target
    ANIMAL & CELL MODELS