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Aliases for LAMP2 Gene

Aliases for LAMP2 Gene

  • Lysosomal Associated Membrane Protein 2 2 3
  • Lysosomal-Associated Membrane Protein 2 2 3 5
  • CD107 Antigen-Like Family Member B 3 4
  • LAMP-2 3 4
  • Lysosome-Associated Membrane Protein 2 4
  • CD107b Antigen 4
  • CD107b 3
  • LGP110 3
  • LAMPB 3

External Ids for LAMP2 Gene

Previous GeneCards Identifiers for LAMP2 Gene

  • GC0XM114382
  • GC0XM116550
  • GC0XM117540
  • GC0XM118318
  • GC0XM119346
  • GC0XM119448
  • GC0XM119560
  • GC0XM109011

Summaries for LAMP2 Gene

Entrez Gene Summary for LAMP2 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 adhesion of the lysosome. Alternative splicing of this gene results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jul 2008]

GeneCards Summary for LAMP2 Gene

LAMP2 (Lysosomal Associated Membrane Protein 2) is a Protein Coding gene. Diseases associated with LAMP2 include danon disease and glycogen storage disease due to lamp-2 deficiency. Among its related pathways are Lysosome and Phagosome. GO annotations related to this gene include enzyme binding and protein domain specific binding. An important paralog of this gene is LAMP3.

UniProtKB/Swiss-Prot for LAMP2 Gene

  • Implicated in tumor cell metastasis. May function in protection of the lysosomal membrane from autodigestion, maintenance of the acidic environment of the lysosome, adhesion when expressed on the cell surface (plasma membrane), and inter- and intracellular signal transduction. Protects cells from the toxic effects of methylating mutagens.

Gene Wiki entry for LAMP2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LAMP2 Gene

Genomics for LAMP2 Gene

Regulatory Elements for LAMP2 Gene

Enhancers for LAMP2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around LAMP2 on UCSC Golden Path with GeneCards custom track

Promoters for LAMP2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around LAMP2 on UCSC Golden Path with GeneCards custom track

Genomic Location for LAMP2 Gene

Chromosome:
X
Start:
120,426,148 bp from pter
End:
120,469,365 bp from pter
Size:
43,218 bases
Orientation:
Minus strand

Genomic View for LAMP2 Gene

Genes around LAMP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LAMP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LAMP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LAMP2 Gene

Proteins for LAMP2 Gene

  • Protein details for LAMP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P13473-LAMP2_HUMAN
    Recommended name:
    Lysosome-associated membrane glycoprotein 2
    Protein Accession:
    P13473
    Secondary Accessions:
    • A8K4X5
    • D3DTF0
    • Q16641
    • Q6Q3G8
    • Q96J30
    • Q99534
    • Q9UD93

    Protein attributes for LAMP2 Gene

    Size:
    410 amino acids
    Molecular mass:
    44961 Da
    Quaternary structure:
    • Interacts with MLLT11.

    Three dimensional structures from OCA and Proteopedia for LAMP2 Gene

    Alternative splice isoforms for LAMP2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LAMP2 Gene

Proteomics data for LAMP2 Gene at MOPED

Post-translational modifications for LAMP2 Gene

  • O- and N-glycosylated; some of the 16 N-linked glycans are polylactosaminoglycans.
  • Glycosylation at Asn 32, Asn 38, Asn 49, Asn 58, Asn 75, Asn 101, Asn 123, Asn 179, Ser 195, Thr 196, Thr 200, Thr 203, Thr 204, Ser 207, Thr 209, Thr 210, Thr 211, Thr 213, Asn 229, Asn 242, Asn 257, Asn 275, Asn 300, Asn 307, Asn 317, and Asn 356
  • Modification sites at PhosphoSitePlus

Other Protein References for LAMP2 Gene

Antibody Products

  • R&D Systems Antibodies for LAMP2 (LAMP-2/CD107b)
  • Cell Signaling Technology (CST) Antibodies for LAMP2 (LAMP2)

No data available for DME Specific Peptides for LAMP2 Gene

Domains & Families for LAMP2 Gene

Gene Families for LAMP2 Gene

Protein Domains for LAMP2 Gene

Graphical View of Domain Structure for InterPro Entry

P13473

UniProtKB/Swiss-Prot:

LAMP2_HUMAN :
  • Belongs to the LAMP family.
Family:
  • Belongs to the LAMP family.
genes like me logo Genes that share domains with LAMP2: view

Function for LAMP2 Gene

Molecular function for LAMP2 Gene

GENATLAS Biochemistry:
lysosomal associated membrane protein 2
UniProtKB/Swiss-Prot Function:
Implicated in tumor cell metastasis. May function in protection of the lysosomal membrane from autodigestion, maintenance of the acidic environment of the lysosome, adhesion when expressed on the cell surface (plasma membrane), and inter- and intracellular signal transduction. Protects cells from the toxic effects of methylating mutagens.

Gene Ontology (GO) - Molecular Function for LAMP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0019904 protein domain specific binding IEA --
genes like me logo Genes that share ontologies with LAMP2: view
genes like me logo Genes that share phenotypes with LAMP2: view

Human Phenotype Ontology for LAMP2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for LAMP2 Gene

MGI Knock Outs for LAMP2:

Animal Model Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for LAMP2

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for LAMP2 Gene

Localization for LAMP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LAMP2 Gene

Cell membrane; Single-pass type I membrane protein. Endosome membrane; Single-pass type I membrane protein. Lysosome membrane; Single-pass type I membrane protein. Note=This protein shuttles between lysosomes, endosomes, and the plasma membrane.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for LAMP2 Gene COMPARTMENTS Subcellular localization image for LAMP2 gene
Compartment Confidence
endosome 5
extracellular 5
lysosome 5
plasma membrane 5
vacuole 5
cytoskeleton 3
endoplasmic reticulum 2
golgi apparatus 2
cytosol 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for LAMP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IDA 12536145
GO:0005765 lysosomal membrane IDA 15297306
GO:0016020 membrane IEA,IDA 15297306
GO:0031088 platelet dense granule membrane TAS --
GO:0043202 lysosomal lumen TAS 20176123
genes like me logo Genes that share ontologies with LAMP2: view

Pathways & Interactions for LAMP2 Gene

genes like me logo Genes that share pathways with LAMP2: view

Pathways by source for LAMP2 Gene

3 KEGG pathways for LAMP2 Gene
1 R&D Systems pathway for LAMP2 Gene

Gene Ontology (GO) - Biological Process for LAMP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031647 regulation of protein stability IMP 26212789
GO:0046716 muscle cell cellular homeostasis IEA --
genes like me logo Genes that share ontologies with LAMP2: view

No data available for SIGNOR curated interactions for LAMP2 Gene

Drugs & Compounds for LAMP2 Gene

(2) Drugs for LAMP2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(4) Additional Compounds for LAMP2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with LAMP2: view

Transcripts for LAMP2 Gene

Unigene Clusters for LAMP2 Gene

Lysosomal-associated membrane protein 2:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for LAMP2

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for LAMP2 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3a · 3b ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b · 6c · 6d ^ 7a · 7b · 7c · 7d · 7e ^ 8a · 8b ^ 9 ^ 10a ·
SP1: -
SP2: -
SP3:
SP4: - - - - - - - - - - - - -
SP5: - - - - - - - - - - -
SP6: -
SP7: - - - - - - -
SP8:
SP9: - -
SP10: - - - -
SP11: - -
SP12: - - - - - - - - - - - - - - - - - - - - -
SP13:

ExUns: 10b ^ 11a · 11b ^ 12a · 12b · 12c ^ 13
SP1: - -
SP2: - - - - -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12: - -
SP13:

Relevant External Links for LAMP2 Gene

GeneLoc Exon Structure for
LAMP2
ECgene alternative splicing isoforms for
LAMP2

Expression for LAMP2 Gene

mRNA expression in normal human tissues for LAMP2 Gene

Protein differential expression in normal tissues from HIPED for LAMP2 Gene

This gene is overexpressed in Neutrophil (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for LAMP2 Gene



SOURCE GeneReport for Unigene cluster for LAMP2 Gene Hs.496684

mRNA Expression by UniProt/SwissProt for LAMP2 Gene

P13473-LAMP2_HUMAN
Tissue specificity: Isoform LAMP-2A is highly expressed in placenta, lung and liver, less in kidney and pancreas, low in brain and skeletal muscle. Isoform LAMP-2B is highly expressed in skeletal muscle, less in brain, placenta, lung, kidney and pancreas, very low in liver.
genes like me logo Genes that share expression patterns with LAMP2: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein tissue co-expression partners for LAMP2 Gene

Orthologs for LAMP2 Gene

This gene was present in the common ancestor of animals.

Orthologs for LAMP2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia LAMP2 35
  • 82.38 (n)
  • 77.81 (a)
LAMP2 36
  • 76 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LAMP2 35
  • 83.42 (n)
  • 79.41 (a)
LAMP2 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Lamp2 35
  • 74.46 (n)
  • 61.94 (a)
Lamp2 16
Lamp2 36
  • 61 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia LAMP2 35
  • 90.86 (n)
  • 87.78 (a)
rat
(Rattus norvegicus)
Mammalia Lamp2 35
  • 79.16 (n)
  • 68.24 (a)
oppossum
(Monodelphis domestica)
Mammalia LAMP2 36
  • 54 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LAMP2 36
  • 60 (a)
OneToOne
chicken
(Gallus gallus)
Aves LAMP2 35
  • 58.81 (n)
  • 49.12 (a)
LAMP2 36
  • 50 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lamp2 35
  • 55.13 (n)
  • 44.53 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.30895 35
zebrafish
(Danio rerio)
Actinopterygii lamp2 36
  • 32 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Lamp1 36
  • 21 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 21 (a)
ManyToMany
-- 36
  • 19 (a)
ManyToMany
Species with no ortholog for LAMP2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for LAMP2 Gene

ENSEMBL:
Gene Tree for LAMP2 (if available)
TreeFam:
Gene Tree for LAMP2 (if available)

Paralogs for LAMP2 Gene

Paralogs for LAMP2 Gene

(1) SIMAP similar genes for LAMP2 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with LAMP2: view

Variants for LAMP2 Gene

Sequence variations from dbSNP and Humsavar for LAMP2 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs1043878 - 120,446,402(-) CAACC(A/C)CAATA reference, missense
VAR_026230 Danon disease (DAND)
rs747681010 -- 120,469,860(+) TCTCA(-/T)TTTTT upstream-variant-2KB
rs747715294 -- 120,457,018(+) TTGGC(A/G)TTATC intron-variant
rs747724690 -- 120,468,585(+) CCTCA(G/T)GCTCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for LAMP2 Gene

Variant ID Type Subtype PubMed ID
dgv2470e1 CNV Complex 17122850
nsv528786 CNV Gain 19592680
esv2740433 CNV Deletion 23290073
esv2659227 CNV Deletion 23128226

Variation tolerance for LAMP2 Gene

Residual Variation Intolerance Score: 37% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.95; 19.62% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LAMP2 Gene

HapMap Linkage Disequilibrium report
LAMP2
Human Gene Mutation Database (HGMD)
LAMP2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LAMP2 Gene

Disorders for LAMP2 Gene

MalaCards: The human disease database

(10) MalaCards diseases for LAMP2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
danon disease
  • antopol disease
glycogen storage disease due to lamp-2 deficiency
  • danon disease
cardiomyopathy
  • cardiomyopathies
glycogen storage disease ii
  • acid maltase deficiency
lysosomal acid phosphatase deficiency
  • lysosomal acid phosphatase
- elite association - COSMIC cancer census association via MalaCards
Search LAMP2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

LAMP2_HUMAN
  • Danon disease (DAND) [MIM:300257]: DAND is a lysosomal glycogen storage disease characterized by the clinical triad of cardiomyopathy, vacuolar myopathy and mental retardation. It is often associated with an accumulation of glycogen in muscle and lysosomes. {ECO:0000269 PubMed:15673802, ECO:0000269 PubMed:15907287}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for LAMP2

Genetic Association Database (GAD)
LAMP2
Human Genome Epidemiology (HuGE) Navigator
LAMP2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LAMP2
genes like me logo Genes that share disorders with LAMP2: view

No data available for Genatlas for LAMP2 Gene

Publications for LAMP2 Gene

  1. Glycogen storage diseases presenting as hypertrophic cardiomyopathy. (PMID: 15673802) Arad M. … Seidman J.G. (N. Engl. J. Med. 2005) 3 4 23 67
  2. LAMP2 microdeletions in patients with Danon disease. (PMID: 20173215) Yang Z. … Vatta M. (Circ Cardiovasc Genet 2010) 3 23
  3. A 13-year-old girl with proximal weakness and hypertrophic cardiomyopathy with Danon disease. (PMID: 20513107) Kim H. … Chae J.H. (Muscle Nerve 2010) 3 23
  4. Novel LAMP-2 mutation in a family with Danon disease presenting with hypertrophic cardiomyopathy. (PMID: 19057086) Dougu N. … Inoue H. (Circ. J. 2009) 3 23
  5. Differential expression of LAMPs and ubiquitin in human thymus. (PMID: 19343823) Sarafian V.S. … Gulubova M.V. (APMIS 2009) 3 23

Products for LAMP2 Gene

Sources for LAMP2 Gene

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