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

Gene ID: 3920, updated on 6-Oct-2024

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: HPA RNA-seq normal tissues 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables enzyme binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables ion channel inhibitor activity IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein domain specific binding IEA
Inferred from Electronic Annotation
more info
 
enables signaling adaptor activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in autophagosome maturation IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in autophagosome maturation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cellular response to starvation IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in cellular response to starvation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in chaperone-mediated autophagy IDA
Inferred from Direct Assay
more info
PubMed 
involved_in chaperone-mediated autophagy IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in chaperone-mediated autophagy ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in lysosomal lumen acidification IDA
Inferred from Direct Assay
more info
PubMed 
involved_in lysosomal protein catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in muscle cell cellular homeostasis IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of NLRP3 inflammasome complex assembly IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of protein-containing complex assembly IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein import TAS
Traceable Author Statement
more info
PubMed 
involved_in protein stabilization ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in protein targeting ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in protein targeting to lysosome involved in chaperone-mediated autophagy IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in protein targeting to lysosome involved in chaperone-mediated autophagy IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein targeting to lysosome involved in chaperone-mediated autophagy ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of protein stability IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in autolysosome IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in autophagosome membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in azurophil granule membrane TAS
Traceable Author Statement
more info
 
part_of chaperone-mediated autophagy translocation complex IMP
Inferred from Mutant Phenotype
more info
PubMed 
located_in extracellular exosome HDA PubMed 
located_in extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
located_in ficolin-1-rich granule membrane TAS
Traceable Author Statement
more info
 
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
located_in late endosome IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in late endosome membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in late endosome membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in lysosomal lumen TAS
Traceable Author Statement
more info
PubMed 
located_in lysosomal membrane HDA PubMed 
is_active_in lysosomal membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
is_active_in lysosomal membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in lysosomal membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in lysosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in membrane IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with membrane microdomain TAS
Traceable Author Statement
more info
PubMed 
located_in perinuclear region of cytoplasm IMP
Inferred from Mutant Phenotype
more info
PubMed 
located_in phagocytic vesicle membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
located_in platelet dense granule membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in platelet dense granule membrane TAS
Traceable Author Statement
more info
 
located_in trans-Golgi network IMP
Inferred from Mutant Phenotype
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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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

    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:110411
    Lamp; Lysosome-associated membrane glycoprotein (Lamp)
  2. NM_002294.3NP_002285.1  lysosome-associated membrane glycoprotein 2 isoform A precursor

    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:110410
    Lamp; Lysosome-associated membrane glycoprotein (Lamp)
  3. NM_013995.2NP_054701.1  lysosome-associated membrane glycoprotein 2 isoform B precursor

    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:110410
    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)