Gene Gene information from NCBI Gene database.
Entrez ID 3920
Gene name Lysosomal associated membrane protein 2
Gene symbol LAMP2
Synonyms (NCBI Gene)
CD107bDNDLAMP-2LAMPBLGP-96LGP110
Chromosome X
Chromosome location Xq24
Summary The protein encoded by this gene is a member of a family of membrane glycoproteins. This glycoprotein provides selectins with carbohydrate ligands. It may play a role in tumor cell metastasis. It may also function in the protection, maintenance, and adhes
SNPs SNP information provided by dbSNP.
70
SNP ID Visualize variation Clinical significance Consequence
rs104894857 G>A Pathogenic Coding sequence variant, stop gained
rs104894858 C>T Pathogenic Coding sequence variant, missense variant
rs104894859 A>G Pathogenic Coding sequence variant, missense variant
rs137852527 A>T Pathogenic Coding sequence variant, stop gained
rs138991195 T>A,C Likely-benign, conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
563
miRTarBase ID miRNA Experiments Reference
MIRT022427 hsa-miR-124-3p Microarray 18668037
MIRT027054 hsa-miR-103a-3p Sequencing 20371350
MIRT030821 hsa-miR-21-5p Microarray 18591254
MIRT031571 hsa-miR-16-5p Sequencing 20371350
MIRT636470 hsa-miR-1276 HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
74
GO ID Ontology Definition Evidence Reference
GO:0000421 Component Autophagosome membrane IBA
GO:0000421 Component Autophagosome membrane IEA
GO:0005515 Function Protein binding IPI 20797626, 21194361, 26212789, 28514442, 32814053, 36481789, 37390818, 39225180
GO:0005615 Component Extracellular space IDA 25645918
GO:0005764 Component Lysosome IDA 12536145, 15229288, 19535332, 28743268
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
309060 6501 ENSG00000005893
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P13473
Protein name Lysosome-associated membrane glycoprotein 2 (LAMP-2) (Lysosome-associated membrane protein 2) (CD107 antigen-like family member B) (LGP-96) (CD antigen CD107b)
Protein 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). A
PDB 2MOF , 2MOM
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01299 Lamp 218 358 Lysosome-associated membrane glycoprotein (Lamp) Family
Tissue specificity TISSUE SPECIFICITY: Isoform LAMP-2A is highly expressed in placenta, lung and liver, less in kidney and pancreas, low in brain and skeletal muscle (PubMed:26856698, PubMed:7488019). Isoform LAMP-2B is detected in spleen, thymus, prostate, testis, small in
Sequence
MVCFRLFPVPGSGLVLVCLVLGAVRSYALELNLTDSENATCLYAKWQMNFTVRYETTNKT
YKTVTISDHGTVTYNGSICGDDQNGPKIAVQFGPGFSWIANFTKAASTYSIDSVSFSYNT
GDNTTFPDAEDKGILTVDELLAIRIPLNDLFRCNSLSTLEKNDVVQHYWDVLVQAFVQNG
TVSTNEFLCDKDKTSTVAPTIHTTVPSPTTTPTPKEKPEAGTYSVNNGNDTCLLATMGLQ
LNITQDKVASVININPNTTHSTGSCRSHTALLRLNSSTIKYLDFVFAVKNENRFYLKEVN
ISMYLVNGSVFSIANNNLSYWDAPLGSSYMCNKEQTVSVSGAFQINTFDLRVQPFNVT
QG
KYSTAQDCSADDDNFLVPIAVGAALAGVLILVLLAYFIGLKHHHAGYEQF
Sequence length 410
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Virion - Hepatitis viruses
Virion - Lassa virus and SFTS virus
Autophagy - animal
Lysosome
Phagosome
Tuberculosis
  Platelet degranulation
Neutrophil degranulation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
942
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cardiomyopathy Pathogenic; Likely pathogenic rs2147287657, rs2147287662, rs730880492 RCV001799285
RCV001799288
RCV000157984
Cardiovascular phenotype Pathogenic; Likely pathogenic rs2147287637, rs727503118, rs727504648, rs727503120, rs2520906991, rs730880498, rs2520913315, rs2520864428, rs1251075016, rs104894858, rs1057517940, rs1556101523, rs1556123906, rs397516751 RCV005665265
RCV006342113
RCV005348069
RCV003343655
RCV002349002
RCV004019906
RCV002455582
RCV003176886
RCV002381247
RCV002371769
RCV002418235
RCV003159800
RCV000621240
RCV002371830
Danon disease Pathogenic; Likely pathogenic rs2147287624, rs2058605108, rs2147279469, rs2147281364, rs2147278850, rs2147282434, rs2147294924, rs2147281356, rs2147294800, rs2147278858, rs2147287645, rs1436664364, rs1385890053, rs1556092459, rs2147287565
View all (73 more)
RCV001871756
RCV001330714
RCV001726529
RCV001377124
RCV001388566
RCV001387248
RCV001528125
RCV001731008
RCV001783550
RCV001783554
RCV003509077
RCV001783563
RCV001783567
RCV005199243
RCV001783586
RCV001783587
RCV002037657
RCV001949657
RCV001867823
RCV001993270
RCV001893587
RCV002029519
RCV002226877
RCV002250089
RCV000156041
RCV000150911
RCV000155911
RCV000150913
RCV000155777
RCV000154245
RCV000150912
RCV000155846
RCV000154670
RCV005411358
RCV000208028
RCV000157984
RCV001208408
RCV003228085
RCV002470643
RCV002820201
RCV002828493
RCV002941902
RCV002952828
RCV003005747
RCV003055563
RCV003044374
RCV000219626
RCV000223450
RCV000010655
RCV000010656
RCV000010657
RCV000010658
RCV000010659
RCV000010660
RCV000010661
RCV000010662
RCV000010663
RCV003314467
RCV003510494
RCV003510718
RCV003511237
RCV003510013
RCV003510192
RCV003623219
RCV003623508
RCV004586376
RCV005090665
RCV000465984
RCV000456892
RCV000477190
RCV000470635
RCV000471724
RCV001382578
RCV000037418
RCV000549262
RCV001783080
RCV001387423
RCV002513477
RCV005089356
RCV000037412
RCV000037416
RCV000037432
RCV000679872
RCV000685738
RCV000700468
RCV000697607
RCV000786769
RCV000816924
RCV001053614
RCV001035811
RCV001049068
RCV001225432
RCV001246464
RCV001240064
Hypertrophic cardiomyopathy Pathogenic; Likely pathogenic rs727503118, rs727503120, rs730880344, rs104894858, rs397516736, rs397516738, rs397516739, rs397516751, rs397516752 RCV000844639
RCV000844641
RCV000154670
RCV000844638
RCV000037407
RCV000037408
RCV000037410
RCV000037411
RCV000844640
RCV000037433
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
History of neurodevelopmental disorder Likely benign rs1569369724 RCV000719549
Intellectual disability Conflicting classifications of pathogenicity; Uncertain significance rs138991195, rs145169006, rs1460188868 RCV005625226
RCV001089470
RCV001257685
LAMP2-related disorder Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity rs149783672, rs1305798857, rs1338648665, rs139633545, rs730880494, rs730880476, rs149276836, rs2520884837, rs2520948387, rs768073560, rs752321157, rs752231323, rs138435481, rs746330494, rs144140265
View all (2 more)
RCV003905206
RCV004757482
RCV003893314
RCV003965174
RCV003945250
RCV003917544
RCV003952793
RCV003919311
RCV003944162
RCV003942314
RCV003897822
RCV003970147
RCV003897871
RCV003960089
RCV003924937
RCV003892701
RCV003918751
Thymoma Uncertain significance rs1921059152 RCV005926974
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abnormalities Drug Induced Associate 15673802, 30714332
Acidosis Associate 16495920
Alzheimer Disease Inhibit 28945989, 39838438
Alzheimer Disease Associate 37418137
Arthritis Infectious Associate 35371338
Breast Neoplasms Associate 27560716, 36519745
Calcinosis Cutis Associate 1544942
Carcinogenesis Associate 26350055
Carcinoma Adenoid Cystic Associate 26350055
Carcinoma Ductal Associate 11815981