Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3920
Gene name Gene Name - the full gene name approved by the HGNC.
Lysosomal associated membrane protein 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
LAMP2
Synonyms (NCBI Gene) Gene synonyms aliases
CD107b, DND, LAMP-2, LAMPB, LGP-96, LGP110
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xq24
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
309060 6501 ENSG00000005893
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Cardiomyopathy Primary dilated cardiomyopathy rs727504557 N/A
Hypertrophic cardiomyopathy hypertrophic cardiomyopathy rs727503120, rs397516736, rs397516738, rs397516739, rs397516751, rs397516752 N/A
Hypertrophic Cardiomyopathy Primary familial hypertrophic cardiomyopathy rs193922649 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Mental retardation intellectual disability N/A N/A ClinVar
Associations from Text Mining Disease 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