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

    Gene ID: 3920, updated on 13-Aug-2017
    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; Vega:OTTHUMG00000022301
    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
    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]
    Orthologs
    Location:
    Xq24
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) X NC_000023.11 (120426148..120469349, complement)
    105 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 ATPase Na+/K+ transporting family member beta 4 Neighboring gene RNA, U7 small nuclear 68 pseudogene Neighboring gene cullin 4B

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Danon disease
    MedGen: C0878677 OMIM: 300257 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2012-05-03)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2012-05-03)

    ClinGen Genome Curation PagePubMed

    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

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    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enzyme binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein domain specific binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    autophagosome maturation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cellular response to starvation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    chaperone-mediated autophagy IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    chaperone-mediated autophagy ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    lysosomal protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    muscle cell cellular homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    neutrophil degranulation TAS
    Traceable Author Statement
    more info
     
    platelet degranulation TAS
    Traceable Author Statement
    more info
     
    protein import TAS
    Traceable Author Statement
    more info
    PubMed 
    protein stabilization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein targeting ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein targeting to lysosome involved in chaperone-mediated autophagy IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein targeting to lysosome involved in chaperone-mediated autophagy ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of protein stability IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    autolysosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    azurophil granule membrane TAS
    Traceable Author Statement
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ficolin-1-rich granule membrane TAS
    Traceable Author Statement
    more info
     
    integral component of autophagosome membrane IEA
    Inferred from Electronic Annotation
    more info
     
    late endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    late endosome membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    lysosomal lumen TAS
    Traceable Author Statement
    more info
    PubMed 
    lysosomal membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    lysosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with membrane microdomain TAS
    Traceable Author Statement
    more info
    PubMed 
    phagocytic vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    platelet dense granule membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    platelet dense granule membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    lysosome-associated membrane glycoprotein 2
    Names
    CD107 antigen-like family member B

    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_001122606.1NP_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/Swiss-Prot
      P13473
      Related
      ENSP00000408411.2, OTTHUMP00000226572, ENST00000434600.6, OTTHUMT00000058102
      Conserved Domains (1) summary
      pfam01299
      Location:110411
      Lamp; Lysosome-associated membrane glycoprotein (Lamp)
    2. NM_002294.2NP_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, DA405328, X77196
      Consensus CDS
      CCDS14599.1
      UniProtKB/Swiss-Prot
      P13473
      Related
      ENSP00000200639.4, OTTHUMP00000023943, ENST00000200639.8, OTTHUMT00000058099
      Conserved Domains (1) summary
      pfam01299
      Location:110410
      Lamp; Lysosome-associated membrane glycoprotein (Lamp)
    3. NM_013995.2NP_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/Swiss-Prot
      P13473
      Related
      ENSP00000360386.4, OTTHUMP00000023944, ENST00000371335.4, OTTHUMT00000058100
      Conserved Domains (1) summary
      pfam01299
      Location:110410
      Lamp; Lysosome-associated membrane glycoprotein (Lamp)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p7 Primary Assembly

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

    Alternate CHM1_1.1

    Genomic

    1. NC_018934.2 Alternate CHM1_1.1

      Range
      119471636..119514850 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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