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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

LAMP2 Gene

protein-coding GIFtS: 70
GCID: GC0XM119560

Lysosomal-Associated Membrane Protein 2

Alzheimer's & Parkinson's Diseases Congress

37 related diseases
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

Aliases
Lysosomal-Associated Membrane Protein 2¹ ²		LGP110²
LAMP-2² ³		Lysosome-Associated Membrane Glycoprotein 2²
CD107 Antigen-Like Family Member B² ³		CD107b Antigen³
LAMPB² ⁵		Lysosome-Associated Membrane Protein 2³
CD107b²

External Ids:	HGNC: 6501¹	Entrez Gene: 3920²	Ensembl: ENSG00000005893⁷	OMIM: 309060⁵	UniProtKB: P13473³

Export aliases for LAMP2 gene to outside databases

Previous GC identifers: GC0XM114382 GC0XM116550 GC0XM117540 GC0XM118318 GC0XM119346 GC0XM119448 GC0XM109011

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 vacuolar myopathy, and among its related super-pathways are Response to elevated platelet cytosolic Ca2+ and Hemostasis. An important paralog of this gene is LAMP1.

UniProtKB/Swiss-Prot: LAMP2_HUMAN, P13473

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 Wiki entry for LAMP2 Gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000023.10 NT_011786.16 NC_018934.2

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the LAMP2 gene promoter:
TBP RFX1 AP-2alpha isoform 3 Nkx2-2 NCX/Ncx AP-2alpha isoform 2 TFIID AP-2alpha isoform 4 AP-2alpha AP-2alphaA
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: LAMP2 promoter sequence

Search SABiosciences Chromatin IP Primers for LAMP2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat LAMP2

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq24 Ensembl cytogenetic band: Xq24 HGNC cytogenetic band: Xq24-q25

LAMP2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LAMP2 gene location

GeneLoc information about chromosome X GeneLoc Exon Structure

GeneLoc location for GC0XM119560: view genomic region (about GC identifiers)

Start:	119,560,003 bp from pter	End:	119,603,220 bp from pter
Size:	43,218 bases	Orientation:	minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: LAMP2_HUMAN, P13473 (See protein sequence)

Recommended Name: Lysosome-associated membrane glycoprotein 2 precursor

Size: 410 amino acids; 44961 Da

Subcellular location: 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

Secondary accessions: A8K4X5 D3DTF0 Q16641 Q6Q3G8 Q96J30 Q99534 Q9UD93

Alternative splicing: 3 isoforms: P13473-1 P13473-2 P13473-3

Explore the universe of human proteins at neXtProt for LAMP2: NX_P13473

Explore proteomics data for LAMP2 at MOPED

Post-translational modifications:

UniProtKB: O- and N-glycosylated; some of the 16 N-linked glycans are polylactosaminoglycans

View modification sites using PhosphoSitePlus

View neXtProt modification sites for NX_P13473

LAMP2 Protein expression data from MOPED¹, PaxDb² and MAXQB³ : About this image

REFSEQ proteins (3 alternative transcripts):

NP_001116078.1 NP_002285.1 NP_054701.1

ENSEMBL proteins:

ENSP00000408411 ENSP00000200639 ENSP00000431526 ENSP00000360386 ENSP00000440506

ENSP00000440479

Reactome Protein details: P13473
Human Recombinant Protein Products for LAMP2:

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	R&D Systems Recombinant & Natural Proteins for LAMP2 (LAMP2/CD107b)
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	Novus Biologicals LAMP2 Proteins Novus Biologicals LAMP2 Lysates
	Sino Biological Recombinant Protein for LAMP2 Sino Biological Cell Lysate for LAMP2
	ProSpec Recombinant Protein for LAMP2
	Cloud-Clone Corp. Proteins for LAMP2

Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005764	lysosome	IDA	12536145
GO:0005765	lysosomal membrane	IDA	15297306
GO:0005770	late endosome	IDA	15229288
GO:0005886	plasma membrane	TAS	--
GO:0016020	membrane	IDA	15297306

LAMP2 for ontologies About GeneDecksing

LAMP2 Antibody Products:

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Assay Products for LAMP2:

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	Cloud-Clone Corp. ELISAs for LAMP2 Cloud-Clone Corp. CLIAs for LAMP2

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

HGNC Gene Families:

CD: CD molecules

2 InterPro protein domains:

IPR018134 LAMP_CS

IPR002000 Lysosome-assoc_membr_glycop

Graphical View of Domain Structure for InterPro Entry P13473

ProtoNet protein and cluster: P13473

1 Blocks protein domain: IPB002000 Lysosome-associated membrane glycoprotein (Lamp)/CD68

UniProtKB/Swiss-Prot: LAMP2_HUMAN, P13473

Similarity: Belongs to the LAMP family

LAMP2 for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: LAMP2_HUMAN, P13473

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

Genatlas biochemistry entry for LAMP2:

lysosomal associated membrane protein 2

Phenotypes:
1 GenomeRNAi human phenotype for LAMP2:

Increased gamma-H2AX phosphory

13 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Lamp2):

cardiovascular system	cellular	craniofacial	growth/size	hematopoietic system
homeostasis/metabolism	immune system	integument	mortality/aging	muscle
nervous system	reproductive system	skeleton

LAMP2 for phenotypes About GeneDecksing

Animal Models:
Mouse knock-out Lamp2^tm1Psa for LAMP2

inGenious Targeting Laboratory - Custom generated mouse model solutions for LAMP2

inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for LAMP2

miRNA Products:
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat LAMP2
		8/56 QIAGEN miScript miRNA Assays for microRNAs that regulate LAMP2 (see all 56):
		hsa-miR-140-5p hsa-miR-2052 hsa-miR-193a-3p hsa-let-7d hsa-miR-376b hsa-miR-15a hsa-miR-25 hsa-miR-3653

		SwitchGear 3'UTR luciferase reporter plasmid: LAMP2 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for LAMP2
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		OriGene clones in human, mouse for LAMP2 (see all 20) OriGene ORF clones in mouse, rat for LAMP2 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 3): LAMP2 (NM_013995)
		Sino Biological Human cDNA Clone for LAMP2
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LAMP2

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
About This Section

SuperPaths for LAMP2 About (see all 6)

See pathways by source

SuperPath

Contained pathways About

Platelet degranulation

Platelet degranulation

0.94

Response to elevated platelet cytosolic Ca2+

0.94

Platelet activation, signaling and aggregation

Platelet activation, signaling and aggregation

0.43

Hemostasis

0.43

Tuberculosis

Tuberculosis

Senescence and Autophagy

Senescence and Autophagy

Phagosome

Phagosome

Pathways by source See SuperPaths
Show all pathways

1 BioSystems Pathway for LAMP2

Senescence and Autophagy

4 Reactome Pathways for LAMP2

	Hemostasis
	Platelet degranulation
	Platelet activation, signaling and aggregation
	Response to elevated platelet cytosolic Ca2+

3 Kegg Pathways (Kegg details for LAMP2):

	Lysosome
	Phagosome
	Tuberculosis

LAMP2 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for LAMP2

STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

5/29 Interacting proteins for LAMP2 (P13473^{2, 3} ENSP00000408411⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 29)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ADRB2	P07550²^,³, ENSP00000305372⁴	MINT-7291650 I2D: score=1 STRING: ENSP00000305372
SOD1	P00441²^,³, ENSP00000270142⁴	MINT-8143734 I2D: score=1 STRING: ENSP00000270142
ENSG00000206379	O75955³	I2D: score=1
ENSG00000206480	O75955³	I2D: score=1
ENSG00000230143	O75955³	I2D: score=1

About this table

Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0002576	platelet degranulation	TAS	--
GO:0007596	blood coagulation	TAS	--
GO:0030168	platelet activation	TAS	--

LAMP2 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, IUPHAR, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

LAMP2 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for LAMP2

6 Novoseek inferred chemical compound relationships for LAMP2 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
mannose 6-phosphate	55	2	1845800 (1), 11404461 (1)
n-acetyllactosamine	52.5	3	2243102 (1), 2243101 (1)
glycogen	49.4	6	11552028 (1), 15907287 (1), 17642461 (1), 18691923 (1) (see all 5)
sucrose	10.5	3	1845800 (1), 1520873 (1), 19679094 (1)
dextran	9.77	1	11067894 (1)
cholesterol	0	2	10666334 (1), 11032830 (1)

Search CenterWatch for drugs/clinical trials and news about LAMP2

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for LAMP2 gene (3 alternative transcripts):

NM_001122606.1 NM_002294.2 NM_013995.2

Unigene Cluster for LAMP2:

Lysosomal-associated membrane protein 2

Hs.496684 [show with all ESTs]

Unigene Representative Sequence: NM_002294

6 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000434600(uc004est.4 uc004ess.4 uc011mtz.2) ENST00000200639

ENST00000486593 ENST00000371335(uc011mua.1 uc010nqp.1) ENST00000538785

ENST00000540603

miRNA Products:
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat LAMP2
		8/56 QIAGEN miScript miRNA Assays for microRNAs that regulate LAMP2 (see all 56):
		hsa-miR-140-5p hsa-miR-2052 hsa-miR-193a-3p hsa-let-7d hsa-miR-376b hsa-miR-15a hsa-miR-25 hsa-miR-3653

		SwitchGear 3'UTR luciferase reporter plasmid: LAMP2 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene RNAi products in human, mouse, rat for LAMP2
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		Sirion Biotech Custom design and validation of potent shRNA sequences against LAMP2

Clone Products:		OriGene clones in human, mouse for LAMP2 (see all 20) OriGene ORF clones in mouse, rat for LAMP2 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 3): LAMP2 (NM_013995)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for LAMP2
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LAMP2

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		SABiosciences RT² qPCR Primer Assay in human, mouse, rat LAMP2
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat LAMP2
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat LAMP2

Additional mRNA sequence:

AK126232.1 AK291090.1 AK293931.1 AK295038.1 AK304405.1 AY561849.1 BC002965.1 BC040653.2

BX648255.1 J04183.1 S79873.1 U36336.1 X77196.1

24/50 DOTS entries (see all 50):

DT.92457710 DT.95371837 DT.95371865 DT.314812 DT.121318838 DT.100673206 DT.120007 DT.92457699

DT.121318831 DT.95215613 DT.95371856 DT.121318841 DT.121318801 DT.95371845 DT.92457712 DT.100033580

DT.121318813 DT.100858615 DT.100886554 DT.121318819 DT.91744068 DT.121318774 DT.100733496 DT.121318814

24/809 AceView cDNA sequences (see all 809):

AA771741 Z39048 BX280335 AI025835 AI521971 BQ006028 BG109715 AI753952

BM857490 AA348116 T40586 BM784356 AA350363 AI459107 AW513834 AA148755

AI361127 Z45838 AI767340 AA448882 AV709000 Z41475 AW027976 BQ721319

GeneLoc Exon Structure

5/13 Alternative Splicing Database (ASD) splice patterns (SP) for LAMP2 (see all 13) About this scheme

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:																	-		-		-		-		-		-		-		-		-		-		-

ExUns:	10b	^	11a	·	11b	^	12a	·	12b	·	12c	^	13
SP1:			-		-
SP2:			-		-		-		-		-
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for LAMP2

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

LAMP2 expression in normal human tissues (normalized intensities) LAMP2 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: GCCATTATAA

About this image

LAMP2 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database

5/26 selected tissues (see all 26) fully expand


Reproductive System (Reproductive System) fully expand to see all 6 entries
vagina ; squamous epithelial cells

Skin (Integumentary System) fully expand to see all 5 entries
skin ; keratinocytes

Testis (Reproductive System) fully expand to see all 4 entries
Leydig Cells Testis Interstitium
seminal vesicle ; glandular cells

Brain (Nervous System) fully expand to see all 4 entries
Cerebral Cortex

Tonsil
tonsil ; squamous epithelial cells

See LAMP2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for LAMP2

SOURCE GeneReport for Unigene cluster: Hs.496684

UniProtKB/Swiss-Prot: LAMP2_HUMAN, P13473

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

SABiosciences Custom PCR Arrays for LAMP2

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		SABiosciences RT² qPCR Primer Assay in human, mouse, rat LAMP2
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat LAMP2

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LAMP2

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for LAMP2 gene from 5/12 species (see all 12) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Lamp2^{1 , 5}	lysosomal-associated membrane protein 2^{1, 5}	74.83(n)¹ 62.62(a)¹		X (22.67 cM)⁵ 16784¹ NM_010685.3¹ NP_034815.2¹ 38401357⁵
chicken (Gallus gallus)	Aves	LAMP2¹	lysosomal-associated membrane protein 2	62.81(n) 55.03(a)		414800 NM_001001749.1 NP_001001749.1
African clawed frog (Xenopus laevis)	Amphibia	Xl.30895²	Xenopus laevis transcribed sequence with weak similarity more	76.92(n)		CA985629.1
zebrafish (Danio rerio)	Actinopterygii	lamp2⁶	lysosomal membrane glycoprotein 2	30(a)	1 ↔ 1	14(34448790-34456576)
fruit fly (Drosophila melanogaster)	Insecta	Lamp1⁶	Lamp1	20(a)	1 → many	2L(21573389-21577103)

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for LAMP2 gene

LAMP1² LAMP3² CD68²

1 SIMAP similar gene for LAMP2 using alignment to 4 protein entries: LAMP2_HUMAN (see all proteins):

LAMP1

LAMP2 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr X pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
VAR_026230⁴		Danon disease (DAND)⁴	--	see VAR_026230	2	W R	mis⁴		0	--	--	--	--
rs104894859^1,2	C	pathogenic¹	119569602(-)	`GCTACC/TGGGAT`	6	R W	mis¹		0	--	--	--	--
rs104894858^1,2	C	pathogenic¹	119570339(-)	`GCTCCA/GGTAAG`	6	I V	mis¹		0	--	--	--	--
rs104894857^1,2	C	pathogenic¹	119576746(-)	`TTGTAC/TAAGCT`	6	Q *	stg¹		0	--	--	--	--
rs12834470^1,2	C,F,A	--	119553449(+)	`AAATTG/AAGCAT`	2	--	ds500¹		5		NA WA CSA	8
rs12840386^1,2	C,F,A	--	119553475(+)	`GGAATG/TTAAAG`	2	--	ds500¹		3		NA CSA	5
rs150825906^1,2	C	--	119553599(+)	`ATACGC/TGGAAA`	2	--	ds500¹		0	--	--	--	--
rs190455952^1,2	C	--	119553816(+)	`ATTCAA/CGAAAC`	2	--	ds500¹		0	--	--	--	--
rs113285013^1,2	C,F	--	119554017(+)	`ATACAT/ACCAAA`	2	--	ut3¹		1		WA	2
rs2748^1,2	C,F,O,A,H	--	119554027(+)	`AACTTT/CAGTTA`	2	--	ut3¹		17		MN NS EA NA	2353

HapMap Linkage Disequilibrium report for LAMP2 (119560003 - 119603220 bp)

Structural Variations
Database of Genomic Variants (DGV) 4 variations for LAMP2: About this table

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

Human Gene Mutation Database (HGMD): LAMP2

Locus Specific Mutation Databases (LSDB): LAMP2

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

LAMP2 for disorders           About GeneDecksing

OMIM gene information: 309060
OMIM disorders: 300257
UniProtKB/Swiss-Prot: LAMP2_HUMAN, P13473

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. Note=The disease is caused by mutations affecting the gene represented in this entry

20/37 diseases for LAMP2 (see all 37): About MalaCards

danon disease vacuolar myopathy salla disease hermansky-pudlak syndrome

glycogen storage disease cystinosis chediak-higashi syndrome protein s deficiency

pilocytic astrocytoma zellweger syndrome gaucher's disease lysosomal storage disease

hypertrophic cardiomyopathy dilated cardiomyopathy myopathy tremor

hematopoietic stem cell transplantation hemangioma vasculitis scleroderma

5 diseases from the University of Copenhagen DISEASES database for LAMP2:

Danon disease Hypertrophic cardiomyopathy Myopathy Glycogen storage disease

Intellectual disability

Congresses - knowledge worth sharing:
Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

10/16 Novoseek inferred disease relationships for LAMP2 gene (see all 16) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
danon disease	98.6	49	18282207 (4), 11427988 (3), 20173215 (3), 18004770 (2) (see all 30)
myopathy	76.1	17	16565504 (2), 15907287 (2), 18376150 (1), 15889279 (1) (see all 11)
lysosomal acid phosphatase	73.5	2	9746610 (1), 8370478 (1)
pompe disease	69.7	1	15673802 (1)
glycogen storage disease	68.4	3	11552028 (1), 18691923 (1), 16973206 (1)
cardiomyopathy	62.9	11	19318653 (4), 18376150 (1), 15907287 (1), 15889279 (1) (see all 8)
hermansky-pudlak syndrome	62.6	1	8743190 (1)
mental retardation	53	4	16565504 (1), 18004770 (1), 15907287 (1), 16217705 (1)
protein deficiency	51.3	8	16565504 (3), 18393115 (1), 15907287 (1)
dilated cardiomyopathy	43	1	17541230 (1)

Genetic Association Database (GAD): LAMP2
Human Genome Epidemiology (HuGE) Navigator: LAMP2 (5 documents)

Export disorders for LAMP2 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for LAMP2 gene, integrated from 9 sources (see all 203):
(articles sorted by number of sources associating them with LAMP2)

Utopia: connect your pdf to the dynamic
world of online information

Glycogen storage diseases presenting as hypertrophic cardiomyopathy. (PubMed id 15673802)^{1, 2, 9} Arad M....Seidman J.G. (2005)
Asymptomatic hyperCKemia in a case of Danon disease due to a missense mutation in Lamp-2 gene. (PubMed id 15907287)^{1, 2, 9} Musumeci O.... Toscano A. (2005)
The polylactosaminoglycans of human lysosomal membrane glycoproteins lamp-1 and lamp-2. Localization on the peptide backbones. (PubMed id 2243102)^{1, 2, 9} Carlsson S.R. and Fukuda M. (1990)
Unifying nomenclature for the isoforms of the lysosomal membrane protein LAMP-2. (PubMed id 16190986)^{1, 2, 9} Eskelinen E.L....Saftig P. (2005)
Shared genetic causes of cardiac hypertrophy in children and adults. (PubMed id 18403758)^{1, 4, 9} Morita H.... Seidman C.E. (2008)
Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)^{1, 4} Bailey S.D....Anand S. (2010)
The DNA sequence of the human X chromosome. (PubMed id 15772651)^{1, 2} Ross M.T.... Bentley D.R. (2005)
Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952)^{1, 2} Liu T.... Smith R.D. (2005)
Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PubMed id 15340161)^{1, 2} Zhang Z. and Henzel W.J. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 3920	HGNC: 6501	AceView: LAMP2	Ensembl:ENSG00000005893	euGenes: HUgn3920
ECgene: LAMP2	Kegg: 3920	H-InvDB: LAMP2

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for LAMP2	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for LAMP2	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/LAMP2

Intellectual Property for LAMP2 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for LAMP2 gene:
Search GeneIP for patents involving LAMP2

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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Lysosomal-Associated Membrane Protein 2

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LAMP2 Gene

Lysosomal-Associated Membrane Protein 2

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