LAMP2
entrez
3920
canonical
uniprot
P13473
canonical
ensembl
ENSG00000005893
resolver
ensp
ENSP00000200639
resolver
ensp
ENSP00000360386
resolver
ensp
ENSP00000408411
resolver
genesymbol
LAMP2
resolver
hgnc
HGNC:6501
resolver
uniprot
A8K4X5
resolver
uniprot
D3DTF0
resolver
uniprot
Q16641
resolver
uniprot
Q6Q3G8
resolver
uniprot
Q96J30
resolver
uniprot
Q99534
resolver
uniprot
Q9UD93
resolver
uniprot_entry
LAMP2_HUMAN
resolver
uniprot_sec
A8K4X5
resolver
uniprot_sec
D3DTF0
resolver
uniprot_sec
Q16641
resolver
uniprot_sec
Q6Q3G8
resolver
uniprot_sec
Q96J30
resolver
uniprot_sec
Q99534
resolver
uniprot_sec
Q9UD93
resolver
amino_acid_sequence
MVCFRLFPVPGSGLVLVCLVLGAVRSYALELNLTDSENATCLYAKWQMNFTVRYETTNKTYKTVTISDHGTVTYNGSICGDDQNGPKIAVQFGPGFSWIANFTKAASTYSIDSVSFSYNTGDNTTFPDAEDKGILTVDELLAIRIPLNDLFRCNSLSTLEKNDVVQHYWDVLVQAFVQNGTVSTNEFLCDKDKTSTVAPTIHTTVPSPTTTPTPKEKPEAGTYSVNNGNDTCLLATMGLQLNITQDKVASVININPNTTHSTGSCRSHTALLRLNSSTIKYLDFVFAVKNENRFYLKEVNISMYLVNGSVFSIANNNLSYWDAPLGSSYMCNKEQTVSVSGAFQINTFDLRVQPFNVTQGKYSTAQDCSADDDNFLVPIAVGAALAGVLILVLLAYFIGLKHHHAGYEQF
uniprot
proteins
disease_involvement
DISEASE: Danon disease (DAND) [MIM:300257]: DAND is a lysosomal glycogen storage disease characterized by the clinical triad of cardiomyopathy, vacuolar myopathy and intellectual disability. It is often associated with an accumulation of glycogen in muscle and lysosomes. {ECO:0000269|PubMed:15673802, ECO:0000269|PubMed:15907287}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Lysosomal membrane glycoprotein which plays an important role in lysosome biogenesis, lysosomal pH regulation and autophagy (PubMed:11082038, PubMed:18644871, PubMed:24880125, PubMed:27628032, PubMed:36586411, PubMed:37390818, PubMed:8662539). Acts as an important regulator of lysosomal lumen pH regulation by acting as a direct inhibitor of the proton channel TMEM175, facilitating lysosomal acidification for optimal hydrolase activity (PubMed:37390818). Plays an important role in chaperone-mediated autophagy, a process that mediates lysosomal degradation of proteins in response to various stresses and as part of the normal turnover of proteins with a long biological half-live (PubMed:11082038, PubMed:18644871, PubMed:24880125, PubMed:27628032, PubMed:36586411, PubMed:8662539). Functions by binding target proteins, such as GAPDH, GPX4, NLRP3 and MLLT11, and targeting them for lysosomal degradation (PubMed:11082038, PubMed:18644871, PubMed:24880125, PubMed:36586411, PubMed:8662539). In the chaperone-mediated autophagy, acts downstream of chaperones, such as HSPA8/HSC70, which recognize and bind substrate proteins and mediate their recruitment to lysosomes, where target proteins bind LAMP2 (PubMed:36586411). Plays a role in lysosomal protein degradation in response to starvation (By similarity). Required for the fusion of autophagosomes with lysosomes during autophagy (PubMed:27628032). Cells that lack LAMP2 express normal levels of VAMP8, but fail to accumulate STX17 on autophagosomes, which is the most likely explanation for the lack of fusion between autophagosomes and lysosomes (PubMed:27628032). Required for normal degradation of the contents of autophagosomes (PubMed:27628032). Required for efficient MHC class II-mediated presentation of exogenous antigens via its function in lysosomal protein degradation; antigenic peptides generated by proteases in the endosomal/lysosomal compartment are captured by nascent MHC II subunits (PubMed:15894275, PubMed:20518820). Is not required for efficient MHC class II-mediated presentation of endogenous antigens (PubMed:20518820). {ECO:0000250|UniProtKB:P17046, ECO:0000269|PubMed:11082038, ECO:0000269|PubMed:15894275, ECO:0000269|PubMed:18644871, ECO:0000269|PubMed:20518820, ECO:0000269|PubMed:24880125, ECO:0000269|PubMed:27628032, ECO:0000269|PubMed:36586411, ECO:0000269|PubMed:37390818, ECO:0000269|PubMed:8662539}.; FUNCTION: [Isoform LAMP-2C]: Modulates chaperone-mediated autophagy. Decreases presentation of endogenous antigens by MHCII. Does not play a role in the presentation of exogenous and membrane-derived antigens by MHCII. {ECO:0000269|PubMed:26856698}.; FUNCTION: (Microbial infection) Supports the FURIN-mediated cleavage of mumps virus fusion protein F by interacting with both FURIN and the unprocessed form but not the processed form of the viral protein F. {ECO:0000269|PubMed:32295904}.
uniprot
proteins
mass_dalton
44961
uniprot
proteins
mutagenesis
MUTAGEN 401..404; /note="KHHH->AAAA: Impairs binding and subsequent lysosomal degradation of target proteins, such as GAPDH."; /evidence="ECO:0000269|PubMed:11082038
uniprot
proteins
post_translational_modification
PTM: O- and N-glycosylated; some of the 16 N-linked glycans are polylactosaminoglycans. {ECO:0000269|PubMed:12754519, ECO:0000269|PubMed:16335952, ECO:0000269|PubMed:19159218, ECO:0000269|PubMed:2243102, ECO:0000269|PubMed:2912382, ECO:0000269|PubMed:8323299}.
uniprot
proteins
protein_family
LAMP family
uniprot
proteins
pubmed
11082038
uniprot
proteins
pubmed
12754519
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15340161
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15673802
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
15894275
uniprot
proteins
pubmed
15907287
uniprot
proteins
pubmed
16190986
uniprot
proteins
pubmed
16335952
uniprot
proteins
pubmed
17897319
uniprot
proteins
pubmed
18644871
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
20518820
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
2243102
uniprot
proteins
pubmed
22641697
uniprot
proteins
pubmed
24880125
uniprot
proteins
pubmed
25342746
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26856698
uniprot
proteins
pubmed
27628032
uniprot
proteins
pubmed
2912382
uniprot
proteins
pubmed
3198605
uniprot
proteins
pubmed
32295904
uniprot
proteins
pubmed
36481789
uniprot
proteins
pubmed
36586411
uniprot
proteins
pubmed
37390818
uniprot
proteins
pubmed
7488019
uniprot
proteins
pubmed
7999007
uniprot
proteins
pubmed
8323299
uniprot
proteins
pubmed
8407947
uniprot
proteins
pubmed
8517882
uniprot
proteins
pubmed
8662539
uniprot
proteins
sequence_length
410
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Lysosome membrane {ECO:0000255|PROSITE-ProRule:PRU00740, ECO:0000269|PubMed:11082038, ECO:0000269|PubMed:17897319, ECO:0000269|PubMed:18644871, ECO:0000269|PubMed:2912382}; Single-pass type I membrane protein {ECO:0000255|PROSITE-ProRule:PRU00740, ECO:0000269|PubMed:17897319}. Endosome membrane {ECO:0000269|PubMed:17897319}; Single-pass type I membrane protein {ECO:0000255|PROSITE-ProRule:PRU00740, ECO:0000269|PubMed:17897319}. Cell membrane {ECO:0000269|PubMed:17897319, ECO:0000269|PubMed:2912382}; Single-pass type I membrane protein {ECO:0000255|PROSITE-ProRule:PRU00740, ECO:0000269|PubMed:17897319}. Cytoplasmic vesicle, autophagosome membrane {ECO:0000250|UniProtKB:P17047}. Note=This protein shuttles between lysosomes, endosomes, and the plasma membrane. {ECO:0000269|PubMed:17897319}.
uniprot
proteins
transmembrane_region
TRANSMEM 376..399; /note="Helical"; /evidence="ECO:0000255|PROSITE-ProRule:PRU00740
uniprot
proteins