LAMP2 Gene (Protein Coding)

Lysosomal Associated Membrane Protein 2

GC0XM120426
GIFtS:
46
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. [p... See more...

Aliases for LAMP2 Gene

Aliases for LAMP2 Gene

  • Lysosomal Associated Membrane Protein 2 2 3 5
  • Lysosome-Associated Membrane Glycoprotein 2 3 4
  • CD107 Antigen-Like Family Member B 3 4
  • LAMP-2 3 4
  • LGP-96 3 4
  • Lysosomal-Associated Membrane Protein 2 2
  • Lysosome-Associated Membrane Protein 2 4
  • CD107b Antigen 4
  • CD107b 3
  • LGP110 3
  • LAMPB 3
  • DND 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 Rare Cardiomyopathy. Among its related pathways are Innate Immune System and Autophagy - animal. Gene Ontology (GO) annotations related to this gene include enzyme binding and protein domain specific binding. An important paralog of this gene is LAMP1.

UniProtKB/Swiss-Prot Summary for LAMP2 Gene

  • Plays an important role in chaperone-mediated autophagy, a process that mediates lysosomal degradation of proteins in response to various stresses and as part of the normal turnover of proteins with a long biological half-live (PubMed:8662539, PubMed:11082038, PubMed:18644871, PubMed:24880125, PubMed:27628032). Functions by binding target proteins, such as GAPDH and MLLT11, and targeting them for lysosomal degradation (PubMed:8662539, PubMed:11082038, PubMed:18644871, PubMed:24880125). Plays a role in lysosomal protein degradation in response to starvation (By similarity). Required for the fusion of autophagosomes with lysosomes during autophagy (PubMed:27628032). Cells that lack LAMP2 express normal levels of VAMP8, but fail to accumulate STX17 on autophagosomes, which is the most likely explanation for the lack of fusion between autophagosomes and lysosomes (PubMed:27628032). Required for normal degradation of the contents of autophagosomes (PubMed:27628032). Required for efficient MHCII-mediated presentation of exogenous antigens via its function in lysosomal protein degradation; antigenic peptides generated by proteases in the endosomal/lysosomal compartment are captured by nascent MHCII subunits (PubMed:20518820). Is not required for efficient MHCII-mediated presentation of endogenous antigens (PubMed:20518820).
  • [Isoform LAMP-2C]: Modulates chaperone-mediated autophagy. Decreases presentation of endogenous antigens by MHCII. Does not play a role in the presentation of exogenous and membrane-derived antigens by MHCII.

Gene Wiki entry for LAMP2 Gene

Additional gene information for LAMP2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LAMP2 Gene

Genomics for LAMP2 Gene

GeneHancer (GH) Regulatory Elements for LAMP2 Gene

Promoters and enhancers for LAMP2 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH0XJ120466 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 512.5 +1.2 1202 3.7 POLR2G SP1 PHF8 ZFX POLR2A ZBTB10 CLOCK ZBTB11 ZBTB26 ZBTB25 LAMP2 RF00017-8663 piR-35674-565
GH0XJ120628 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 500.1 -160.4 -160436 2.8 ZBTB40 ZNF217 NRF1 POLR2G SP1 ZNF639 ZIC2 POLR2A ZBTB10 CLOCK C1GALT1C1 lnc-C1GALT1C1-1 lnc-MCTS1-3 piR-35674-567 LAMP2 NKAPP1 UPF3B piR-35674-566
GH0XJ120456 Promoter/Enhancer 1.1 Ensembl ENCODE 13 +11.1 11136 2.8 ZNF217 ZSCAN5C ZNF639 POLR2A RUNX1 OSR2 CBFB FOS PBX2 STAT3 TMEM255A LAMP2 piR-35674-565 HSALNG0139847
GH0XJ120497 Enhancer 0.7 ENCODE 13.4 -28.8 -28846 0.2 CTCF REST RAD21 TRIM22 SMC3 ELF1 ZNF335 ZBTB48 IKZF1 ZNF654 LAMP2 RF00066-202
GH0XJ120446 Enhancer 0.4 Ensembl 23.9 +22.5 22539 0.7 JUND FOS CTCF TMEM255A LAMP2 ATP1B4 HSALNG0139847 piR-35674-565
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LAMP2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LAMP2

Top Transcription factor binding sites by QIAGEN in the LAMP2 gene promoter:
  • AP-2alpha
  • AP-2alpha isoform 2
  • AP-2alpha isoform 3
  • AP-2alpha isoform 4
  • AP-2alphaA
  • NCX
  • Nkx2-2
  • RFX1
  • TBP
  • TFIID

Genomic Locations for LAMP2 Gene

Genomic Locations for LAMP2 Gene
chrX:120,426,148-120,469,365
(GRCh38/hg38)
Size:
43,218 bases
Orientation:
Minus strand
chrX:119,560,003-119,603,220
(GRCh37/hg19)
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 Structure • Gene Density

RefSeq DNA sequence for LAMP2 Gene

Proteins for LAMP2 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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:
    • Monomer (PubMed:18644871, PubMed:25342746). Homodimer (PubMed:25342746). Homotrimer (PubMed:25342746). Forms large homooligomers (PubMed:18644871). Interacts (via its cytoplasmic region) with HSPA8 (PubMed:25342746). Interacts with HSP90 in the lysosome lumen; this enhances LAMP2 stability (By similarity). Interacts with MLLT11 (PubMed:24880125).

    Three dimensional structures from OCA and Proteopedia for LAMP2 Gene

    Alternative splice isoforms for LAMP2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LAMP2 Gene

Protein Expression for LAMP2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for LAMP2 Gene

  • O- and N-glycosylated; some of the 16 N-linked glycans are polylactosaminoglycans.
  • Glycosylation at Asn32, Asn38, Asn49, Asn58, Asn75, Asn101, Asn123, Asn179, Ser195, Thr196, Thr200, Thr203, Thr204, Ser207, Thr209, Thr210, Thr211, Thr213, Asn229, Asn242, Asn257, Asn275, Asn300, Asn307, Asn317, and Asn356
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • LAMP2_HUMAN (356)

Other Protein References for LAMP2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for LAMP2 Gene

Domains & Families for LAMP2 Gene

Gene Families for LAMP2 Gene

HGNC:
Human Protein Atlas (HPA):
  • CD markers
  • Disease related genes
  • Plasma proteins
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

Protein Domains for LAMP2 Gene

Blocks:
  • Lysosome-associated membrane glycoprotein (Lamp)/CD68
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for LAMP2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ58780, highly similar to Homo sapiens lysosomal-associated membrane protein 2 (LAMP2), transcript variant LAMP2B, mRNA (B4E2S7_HUMAN)
  • cDNA FLJ52540, highly similar to Lysosome-associated membrane glycoprotein 2 (B7Z2R9_HUMAN)
  • CD107 antigen-like family member B (LAMP2_HUMAN)
  • Lamp-2 protein (Q6LDB5_HUMAN)

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

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  2. CRISPR
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  6. Cell Line

Molecular function for LAMP2 Gene

UniProtKB/Swiss-Prot Function:
Plays an important role in chaperone-mediated autophagy, a process that mediates lysosomal degradation of proteins in response to various stresses and as part of the normal turnover of proteins with a long biological half-live (PubMed:8662539, PubMed:11082038, PubMed:18644871, PubMed:24880125, PubMed:27628032). Functions by binding target proteins, such as GAPDH and MLLT11, and targeting them for lysosomal degradation (PubMed:8662539, PubMed:11082038, PubMed:18644871, PubMed:24880125). Plays a role in lysosomal protein degradation in response to starvation (By similarity). Required for the fusion of autophagosomes with lysosomes during autophagy (PubMed:27628032). Cells that lack LAMP2 express normal levels of VAMP8, but fail to accumulate STX17 on autophagosomes, which is the most likely explanation for the lack of fusion between autophagosomes and lysosomes (PubMed:27628032). Required for normal degradation of the contents of autophagosomes (PubMed:27628032). Required for efficient MHCII-mediated presentation of exogenous antigens via its function in lysosomal protein degradation; antigenic peptides generated by proteases in the endosomal/lysosomal compartment are captured by nascent MHCII subunits (PubMed:20518820). Is not required for efficient MHCII-mediated presentation of endogenous antigens (PubMed:20518820).
UniProtKB/Swiss-Prot Function:
[Isoform LAMP-2C]: Modulates chaperone-mediated autophagy. Decreases presentation of endogenous antigens by MHCII. Does not play a role in the presentation of exogenous and membrane-derived antigens by MHCII.
UniProtKB/Swiss-Prot Induction:
In peripheral blood B cells isoform LAMP-2A, LAMP-2B and LAMP-2C are up-regulated in response to treatments that stimulate immune responses via the Toll-like receptors TLR7 or TLR9.
GENATLAS Biochemistry:
lysosomal associated membrane protein 2

Phenotypes From GWAS Catalog for LAMP2 Gene

Gene Ontology (GO) - Molecular Function for LAMP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 26212789
GO:0019899 enzyme binding IPI 22641697
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

Clone Products

  • Addgene plasmids for LAMP2

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. Cytoplasmic vesicle, autophagosome membrane. Note=This protein shuttles between lysosomes, endosomes, and the plasma membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LAMP2 gene
Compartment Confidence
extracellular 5
endosome 5
lysosome 5
plasma membrane 4
golgi apparatus 4
cytoskeleton 3
endoplasmic reticulum 3
mitochondrion 2
peroxisome 2
nucleus 2
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for LAMP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 25645918
GO:0005623 cell IEA --
GO:0005764 lysosome IEA,IDA 12536145
GO:0005765 lysosomal membrane IDA 15297306
GO:0005768 endosome IEA --
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

1 BioSystems pathway for LAMP2 Gene
4 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:0002576 platelet degranulation TAS --
GO:0006605 protein targeting ISS --
GO:0006914 autophagy IEA --
GO:0009267 cellular response to starvation IBA,ISS --
GO:0017038 protein import TAS 20176123
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

Products:

  1. Drug

(4) Drugs for LAMP2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) 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

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for LAMP2 Gene

3 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

  • Addgene plasmids for LAMP2

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

Expression for LAMP2 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for LAMP2 Gene

mRNA expression in normal human tissues for LAMP2 Gene
mRNA expression by BioGPS for LAMP2 GenemRNA expression by GTEx 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, MaxQB, and MOPED for LAMP2 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LAMP2

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 (PubMed:7488019, PubMed:26856698). Isoform LAMP-2B is detected in spleen, thymus, prostate, testis, small intestine, colon, skeletal muscle, brain, placenta, lung, kidney, ovary and pancreas and liver (PubMed:7488019, PubMed:26856698). Isoform LAMP-2C is detected in small intestine, colon, heart, brain, skeletal muscle, and at lower levels in kidney and placenta (PubMed:26856698).

Evidence on tissue expression from TISSUES for LAMP2 Gene

  • Nervous system(5)
  • Liver(4.6)
  • Bone marrow(4.3)
  • Kidney(4)
  • Lung(3.6)
  • Skin(3.5)
  • Pancreas(3.3)
  • Blood(2.8)
  • Muscle(2.8)
  • Heart(2.7)
  • Spleen(2.5)
  • Intestine(2.4)
  • Lymph node(2.3)
  • Gall bladder(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for LAMP2 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • head
Thorax:
  • heart
  • heart valve
Limb:
  • foot
  • lower limb
  • upper limb
General:
  • peripheral nervous system
genes like me logo Genes that share expression patterns with LAMP2: view

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
chimpanzee
(Pan troglodytes)
 Mammalia LAMP2 30
  • 90.86 (n)
dog
(Canis familiaris)
 Mammalia LAMP2 31 30
  • 83.42 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia LAMP2 31 30
  • 82.38 (n)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Lamp2 30
  • 79.16 (n)
mouse
(Mus musculus)
 Mammalia Lamp2 17 31 30
  • 74.46 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia LAMP2 31
  • 60 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia LAMP2 31
  • 54 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves LAMP2 31 30
  • 58.81 (n)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia lamp2 30
  • 55.13 (n)
African clawed frog
(Xenopus laevis)
 Amphibia Xl.30895 30
zebrafish
(Danio rerio)
 Actinopterygii lamp2 31
  • 32 (a)
 OneToOne
fruit fly
(Drosophila melanogaster)
 Insecta Lamp1 31
  • 21 (a)
 OneToMany
sea squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 21 (a)
 ManyToMany
-- 31
  • 19 (a)
 ManyToMany
Species where no ortholog for LAMP2 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for LAMP2: view image

Paralogs for LAMP2 Gene

Paralogs for LAMP2 Gene

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

  • LAMP2_HUMAN
  • B4E2S7_HUMAN
  • B7Z2R9_HUMAN
  • H0YCG2_HUMAN
genes like me logo Genes that share paralogs with LAMP2: view

Variants for LAMP2 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LAMP2 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
180873 Uncertain Significance: Danon disease 120,447,845(-) T/C MISSENSE_VARIANT
636417 Likely Pathogenic: not provided 120,447,913(-) A/C NONSENSE
636442 Likely Pathogenic: not provided 120,446,334(-) TG/T FRAMESHIFT_VARIANT
636563 Uncertain Significance: not provided 120,448,957(-) A/T INTRON_VARIANT
641626 Uncertain Significance: Danon disease 120,455,566(-) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for LAMP2 Gene

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

Variant ID Type Subtype PubMed ID
esv2659227 CNV deletion 23128226
esv2740433 CNV deletion 23290073
esv2758889 CNV loss 17122850
esv3559258 CNV deletion 23714750
nsv528786 CNV gain 19592680

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)

Additional Variant Information for LAMP2 Gene

Human Gene Mutation Database (HGMD)
LAMP2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LAMP2

SNP Genotyping and Copy Number Assay Products

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

Disorders for LAMP2 Gene

MalaCards: The human disease database

(27) MalaCards diseases for LAMP2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
danon disease
  • vacuolar cardiomyopathy and myopathy, x-linked
rare cardiomyopathy
atrial standstill 1
  • atrst1
hypertrophic cardiomyopathy
  • cardiomyopathy, hypertrophic, familial
dilated cardiomyopathy
  • cardiomyopathy, familial idiopathic
- 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.

Additional Disease Information for LAMP2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 JG (The New England journal of medicine 2005) 3 4 23 54
  2. Unifying nomenclature for the isoforms of the lysosomal membrane protein LAMP-2. (PMID: 16190986) Eskelinen EL … Saftig P (Traffic (Copenhagen, Denmark) 2005) 3 4 23 54
  3. Asymptomatic hyperCKemia in a case of Danon disease due to a missense mutation in Lamp-2 gene. (PMID: 15907287) Musumeci O … Toscano A (Neuromuscular disorders : NMD 2005) 3 4 23 54
  4. The polylactosaminoglycans of human lysosomal membrane glycoproteins lamp-1 and lamp-2. Localization on the peptide backbones. (PMID: 2243102) Carlsson SR … Fukuda M (The Journal of biological chemistry 1990) 3 4 23 54
  5. LAMP-2C Inhibits MHC Class II Presentation of Cytoplasmic Antigens by Disrupting Chaperone-Mediated Autophagy. (PMID: 26856698) Pérez L … Blum JS (Journal of immunology (Baltimore, Md. : 1950) 2016) 3 4 54

ExternalLinks

View latest publications for LAMP2 gene in Mastermind

Products for LAMP2 Gene

  • Addgene plasmids for LAMP2

Sources for LAMP2 Gene