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    LAMP2 lysosomal associated membrane protein 2 [ Homo sapiens (human) ]

    Gene ID: 3920, updated on 5-Jan-2025

    Summary

    Official Symbol
    LAMP2provided by HGNC
    Official Full Name
    lysosomal associated membrane protein 2provided by HGNC
    Primary source
    HGNC:HGNC:6501
    See related
    Ensembl:ENSG00000005893 MIM:309060; AllianceGenome:HGNC:6501
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DND; LAMPB; CD107b; LAMP-2; LGP-96; LGP110
    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 adhesion of the lysosome. Alternative splicing of this gene results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in brain (RPKM 30.7), gall bladder (RPKM 27.0) and 25 other tissues See more
    Orthologs
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    Genomic context

    See LAMP2 in Genome Data Viewer
    Location:
    Xq24
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (120426148..120469349, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (118801613..118844815, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (119560003..119603204, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene transmembrane protein 255A Neighboring gene prefoldin subunit 4-like Neighboring gene NANOG hESC enhancer GRCh37_chrX:119408635-119409312 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29903 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:119466056-119466798 Neighboring gene NANOG hESC enhancer GRCh37_chrX:119474477-119474999 Neighboring gene ATPase Na+/K+ transporting family member beta 4 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:119603089-119603353 Neighboring gene uncharacterized LOC124900489 Neighboring gene RNA, U7 small nuclear 68 pseudogene Neighboring gene RNA, U7 small nuclear 86 pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (14 hits/907 screens)

    Associated conditions

    Description Tests
    Danon disease
    MedGen: C0878677 OMIM: 300257 GeneReviews: Danon Disease
    Compare labs

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2021-02-09)

    ClinGen Genome Curation PagePubMed
    Triplosensitivity

    No evidence available (Last evaluated 2021-02-09)

    ClinGen Genome Curation Page

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Nef nef Both HIV-1 Nef and Vpu downregulate the cell surface expression of lysosomal-associated membrane protein 2 (CD107b) PubMed
    nef HIV-1 Nef increases the production of exosomes and co-localizes with exosomal proteins CD63, AIP/Alix, AChE, Hsc70, LAMP2, and annexin A2 in HeLa cells PubMed
    Pr55(Gag) gag In Niemann-Pick type C-1 (NPC1)-deficient (NPCD) cells, HIV-1 Gag co-localizes with CD63 and LAMP2 in late endosomal/lysosomal (LE/L) compartments PubMed
    Tat tat HIV-1 Tat associates with lysosomal-associated membrane protein 2 in neuronal cells PubMed
    Vpr vpr HIV-1 Vpr reduces co-localization of LAMP2 colocalization with HIV-1 MA (p17) in monocyte-derived macropaphages PubMed
    Vpu vpu Both HIV-1 Nef and Vpu downregulate the cell surface expression of lysosomal-associated membrane protein 2 (CD107b) PubMed
    vpu HIV-1 Vpu co-localizes with the lysosomal marker LAMP2 during HIV-1 protein expression PubMed
    capsid gag HIV-1 CA-stimulated CD8+ T cells upregulate CD107 expression compared to unstimulated cells PubMed
    matrix gag HIV-1 MA (p17) colocalizes with LAMP2 in the absense of Vpr in monocyte-derived macrophages PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables enzyme binding PubMed 
    enables ion channel inhibitor activity PubMed 
    enables protein binding PubMed 
    enables protein domain specific binding  
    enables signaling adaptor activity PubMed 
    Process Evidence Code Pubs
    involved_in autophagosome maturation  
    involved_in autophagosome maturation  
    involved_in cellular response to starvation  
    involved_in cellular response to starvation  
    involved_in chaperone-mediated autophagy PubMed 
    involved_in chaperone-mediated autophagy PubMed 
    involved_in chaperone-mediated autophagy  
    involved_in lysosomal lumen acidification PubMed 
    involved_in lysosomal protein catabolic process PubMed 
    involved_in muscle cell cellular homeostasis  
    involved_in negative regulation of NLRP3 inflammasome complex assembly PubMed 
    involved_in negative regulation of protein-containing complex assembly PubMed 
    involved_in protein catabolic process PubMed 
    involved_in protein import PubMed 
    involved_in protein stabilization  
    involved_in protein targeting  
    involved_in protein targeting to lysosome involved in chaperone-mediated autophagy  
    involved_in protein targeting to lysosome involved in chaperone-mediated autophagy PubMed 
    involved_in protein targeting to lysosome involved in chaperone-mediated autophagy  
    involved_in regulation of protein stability PubMed 
    Items 1 - 20 of 27
    Component Evidence Code Pubs
    located_in autolysosome PubMed 
    is_active_in autophagosome membrane  
    located_in azurophil granule membrane  
    part_of chaperone-mediated autophagy translocation complex PubMed 
    located_in extracellular exosome PubMed 
    located_in extracellular exosome PubMed 
    located_in extracellular space PubMed 
    located_in ficolin-1-rich granule membrane  
    located_in intracellular membrane-bounded organelle  
    located_in late endosome PubMed 
    is_active_in late endosome membrane  
    located_in late endosome membrane PubMed 
    located_in lysosomal lumen PubMed 
    located_in lysosomal membrane PubMed 
    is_active_in lysosomal membrane  
    is_active_in lysosomal membrane PubMed 
    located_in lysosomal membrane PubMed 
    located_in lysosome PubMed 
    located_in membrane PubMed 
    colocalizes_with membrane microdomain PubMed 
    located_in perinuclear region of cytoplasm PubMed 
    located_in phagocytic vesicle membrane  
    is_active_in plasma membrane  
    located_in plasma membrane  
    located_in platelet dense granule membrane PubMed 
    located_in platelet dense granule membrane  
    located_in trans-Golgi network PubMed 
    Items 1 - 20 of 27

    General protein information

    Preferred Names
    lysosome-associated membrane glycoprotein 2
    Names
    CD107 antigen-like family member B

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007995.1 RefSeqGene

      Range
      5001..48202
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_749

    mRNA and Protein(s)

    1. NM_001122606.1 → NP_001116078.1  lysosome-associated membrane glycoprotein 2 isoform C precursor

      See identical proteins and their annotated locations for NP_001116078.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (C) results from alternative splicing of exon 9 and results in a shorter transcript, but longer protein, as compared to variant A. Variant C encodes isoform C.
      Source sequence(s)
      AC002476, AY561849, BC040653
      Consensus CDS
      CCDS48159.1
      UniProtKB/TrEMBL
      B4E2S7
      Related
      ENSP00000408411.2, ENST00000434600.6
      Conserved Domains (1) summary
      pfam01299
      Location:110 → 411
      Lamp; Lysosome-associated membrane glycoprotein (Lamp)
    2. NM_002294.3 → NP_002285.1  lysosome-associated membrane glycoprotein 2 isoform A precursor

      See identical proteins and their annotated locations for NP_002285.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (A) is the longest and predominant form of this gene. Variant A encodes isoform A.
      Source sequence(s)
      AC002476, BC040653, X77196
      Consensus CDS
      CCDS14599.1
      UniProtKB/Swiss-Prot
      A8K4X5, D3DTF0, P13473, Q16641, Q6Q3G8, Q96J30, Q99534, Q9UD93
      UniProtKB/TrEMBL
      B4E2S7
      Related
      ENSP00000200639.4, ENST00000200639.9
      Conserved Domains (1) summary
      pfam01299
      Location:110 → 410
      Lamp; Lysosome-associated membrane glycoprotein (Lamp)
    3. NM_013995.2 → NP_054701.1  lysosome-associated membrane glycoprotein 2 isoform B precursor

      See identical proteins and their annotated locations for NP_054701.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (B) results from alternative splicing of exon 9 and results in a shorter transcript, but not protein, as compared to variant A. Transcript variant B is over-expressed in muscle and encodes isoform B.
      Source sequence(s)
      AC002476, BP386088, DA405328, S79873
      Consensus CDS
      CCDS14600.1
      UniProtKB/TrEMBL
      B4E2S7
      Related
      ENSP00000360386.4, ENST00000371335.4
      Conserved Domains (1) summary
      pfam01299
      Location:110 → 410
      Lamp; Lysosome-associated membrane glycoprotein (Lamp)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      120426148..120469349 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      118801613..118844815 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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