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

Gene ID: 3920, updated on 3-Jun-2018
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]
Expression
Ubiquitous expression in brain (RPKM 30.7), gall bladder (RPKM 27.0) and 25 other tissues See more
Orthologs
See LAMP2 in Genome Data Viewer
Location:
Xq24
Exon count:
10
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 RNA, U7 small nuclear 86 pseudogene

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

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

  • Autophagy - animal, organism-specific biosystem (from KEGG)
    Autophagy - animal, organism-specific biosystemAutophagy (or macroautophagy) is a cellular catabolic pathway involving in protein degradation, organelle turnover, and non-selective breakdown of cytoplasmic components, which is evolutionarily cons...
  • Autophagy - animal, conserved biosystem (from KEGG)
    Autophagy - animal, conserved biosystemAutophagy (or macroautophagy) is a cellular catabolic pathway involving in protein degradation, organelle turnover, and non-selective breakdown of cytoplasmic components, which is evolutionarily cons...
  • Hemostasis, organism-specific biosystem (from REACTOME)
    Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • Lysosome, organism-specific biosystem (from KEGG)
    Lysosome, organism-specific biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
  • Lysosome, conserved biosystem (from KEGG)
    Lysosome, conserved biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
  • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
    Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...
  • Phagosome, organism-specific biosystem (from KEGG)
    Phagosome, organism-specific biosystemPhagocytosis is the process of taking in relatively large particles by a cell, and is a central mechanism in the tissue remodeling, inflammation, and defense against infectious agents. A phagosome is...
  • Phagosome, conserved biosystem (from KEGG)
    Phagosome, conserved biosystemPhagocytosis is the process of taking in relatively large particles by a cell, and is a central mechanism in the tissue remodeling, inflammation, and defense against infectious agents. A phagosome is...
  • Platelet activation, signaling and aggregation, organism-specific biosystem (from REACTOME)
    Platelet activation, signaling and aggregation, organism-specific biosystemPlatelet activation begins with the initial binding of adhesive ligands and of the excitatory platelet agonists (released or generated at the sites of vascular trauma) to cognate receptors on the pla...
  • Platelet degranulation, organism-specific biosystem (from REACTOME)
    Platelet degranulation, organism-specific biosystemPlatelets function as exocytotic cells, secreting a plethora of effector molecules at sites of vascular injury. Platelets contain a number of distinguishable storage granules including alpha granules...
  • Response to elevated platelet cytosolic Ca2+, organism-specific biosystem (from REACTOME)
    Response to elevated platelet cytosolic Ca2+, organism-specific biosystemActivation of phospholipase C enzymes results in the generation of second messengers of the phosphatidylinositol pathway. The events resulting from this pathway are a rise in intracellular calcium an...
  • Senescence and Autophagy in Cancer, organism-specific biosystem (from WikiPathways)
    Senescence and Autophagy in Cancer, organism-specific biosystemSenescense and Autophagy Pathways in Cancer
  • Tuberculosis, organism-specific biosystem (from KEGG)
    Tuberculosis, organism-specific biosystemTuberculosis, or TB, is an infectious disease caused by Mycobacterium tuberculosis. One third of the world's population is thought to be infected with TB. About 90% of those infected result in latent...
  • Tuberculosis, conserved biosystem (from KEGG)
    Tuberculosis, conserved biosystemTuberculosis, or TB, is an infectious disease caused by Mycobacterium tuberculosis. One third of the world's population is thought to be infected with TB. About 90% of those infected result in latent...
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 HDA PubMed 
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 matrix IEA
Inferred from Electronic Annotation
more info
 
lysosomal membrane HDA 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 
membrane raft IEA
Inferred from Electronic Annotation
more info
 
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 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p12 Primary Assembly

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