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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

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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, DND, LGP-96

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

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_002294 9 - 6603 NP_002285 - 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) NM_013995 9 splicing 4076 NP_054701 - 410 highly in skeletal muscle, less in brain, lacenta,lung, kidney, pancreas,lowly in liver 2008 18836458 variant B NM_001122606 9 - 3767 NP_001116078 - 411 - 2008 18836458 variant C

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive liver       highly Endocrine parathyroid       highly Lymphoid/Immune thymus       highly Nervous brain       highly Respiratory respiratory tract trachea     highly Urinary kidney       lowly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial barrier lining retinal pigment epithelium (RPE)     Homo sapiens Muscular striatum skeletal

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic neutrophil Cardiovascular endothelial 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)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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)