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LAMP2 Gene

protein-coding GIFtS: 71
GCID: GC0XM119560

Lysosomal-Associated Membrane Protein 2

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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Aliases
Lysosomal-Associated Membrane Protein 2¹ ²		CD107b²
LAMP-2² ³		Lysosome-Associated Membrane Glycoprotein 2²
CD107 Antigen-Like Family Member B² ³		CD107b Antigen³
LAMPB² ⁵		Lysosome-Associated Membrane Protein 2³
LGP110² ⁵

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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:

NC_000023.11 NC_018934.2 NT_011786.17

Regulatory elements:

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 Chromatin IP Primers for LAMP2

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: LAMP2_HUMAN, P13473 (See protein sequence)

Recommended Name: Lysosome-associated membrane glycoprotein 2 precursor

Size: 410 amino acids; 44961 Da

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:

O- and N-glycosylated; some of the 16 N-linked glycans are polylactosaminoglycans¹

Glycosylation² at Asn32, Asn38, Asn49, Asn58, Asn75, Asn101, Asn123, Asn179, Ser195, Thr196,
Thr200, Thr203, Thr204, Ser207, Thr209, Thr210, Thr211, Thr213, Asn229, Asn242 (see all 26)

Modification sites at PhosphoSitePlus

See LAMP2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

LAMP2 Human Recombinant Protein Products:

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	Novus Biologicals LAMP2 Proteins Novus Biologicals LAMP2 Lysates
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	Abcam antibodies for LAMP2
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	ThermoFisher Antibody for LAMP2
	LSBio Antibodies in human, mouse, rat for LAMP2

LAMP2 Assay Products:

	Browse Kits and Assays available from EMD Millipore
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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)
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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, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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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

Gene Ontology (GO): 1 molecular function term: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0019899	enzyme binding	IPI	--

LAMP2 for ontologies About GeneDecksing

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/body	hematopoietic system
homeostasis/metabolism	immune system	integument	mortality/aging	muscle
nervous system	reproductive system	skeleton

LAMP2 for phenotypes About GeneDecksing

Animal Models:
MGI mouse knock-out Lamp2^tm1Psa for LAMP2

inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for LAMP2

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genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for LAMP2

genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for LAMP2

miRNA Products:		miRTarBase miRNAs that target LAMP2: hsa-mir-21-5p (MIRT030821), hsa-mir-124-3p (MIRT022427), hsa-mir-16-5p (MIRT031571), hsa-mir-103a-3p (MIRT027054)

		Block miRNA regulation of human, mouse, rat LAMP2 using miScript Target Protectors
		Selected qRT-PCR 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:		OriGene RNAi products in human, mouse, rat for LAMP2
		Predesigned siRNA for gene silencing in human, mouse, rat LAMP2

Gene Editing
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		GenScript: all cDNA clones in your preferred vector (see all 3): LAMP2 (NM_013995)
		Sino Biological Human cDNA Clone for LAMP2
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for LAMP2
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		Browse ESI BIO Cell Lines and PureStem Progenitors for LAMP2

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LAMP2

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot

LAMP2_HUMAN, P13473: 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:

Compartment	Confidence
endosome	5
lysosome	5
plasma membrane	5
vacuole	5
endoplasmic reticulum	2
extracellular	2
golgi apparatus	2
cytoskeleton	1
mitochondrion	1

About this image

Gene Ontology (GO): Selected cellular component terms (see all 10): 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

(SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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SuperPaths for LAMP2 About (see all 6)

See pathways by source

SuperPath

Contained pathways About

Response to elevated platelet cytosolic Ca2+

Response to elevated platelet cytosolic Ca2+

0.94

Platelet degranulation

0.94

Hemostasis

Hemostasis

0.43

Platelet activation, signaling and aggregation

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

1 Reactome Pathway for LAMP2

Platelet degranulation

3 Kegg Pathways (Kegg details for LAMP2):

	Lysosome
	Phagosome
	Tuberculosis

LAMP2 for pathways About GeneDecksing

Custom Pathway & Disease-focused RT² Profiler PCR Arrays for LAMP2
Interactions:

GeneGlobe Interaction Network for LAMP2

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for LAMP2 (P13473^{2, 3} ENSP00000408411⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 37)

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, ENSP00000372873⁴	I2D: score=1 STRING: ENSP00000372873
ENSG00000232280	O75955³, ENSP00000391438⁴	I2D: score=1 STRING: ENSP00000391438
FLOT1	O75955³, ENSP00000365569⁴	I2D: score=1 STRING: ENSP00000365569

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Gene Ontology (GO): 4 biological process terms: 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	--
GO:0050821	protein stabilization	ISS	--

LAMP2 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

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)

LAMP2 for compounds About GeneDecksing

(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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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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

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		Selected qRT-PCR 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

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		GenScript: all cDNA clones in your preferred vector (see all 3): LAMP2 (NM_013995)
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Primer Products:		OriGene qPCR primer pairs and template standards for LAMP2 OriGene qSTAR qPCR primer pairs in human, mouse for LAMP2
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat LAMP2
		QuantiTect SYBR Green Assays in human, mouse, rat LAMP2
		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

Selected 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

Selected AceView cDNA sequences (see all 809):

CD370599 F04863 AV709000 AI753952 AI356009 CD365703 AI221464 CB266012

AI767340 BE463641 BG169056 BX399392 AA917919 AA348116 BX399393 BU686522

BU789521 AA771741 AW072676 AY561849 AA788977 CA432942 AA593892 BX482027

GeneLoc Exon Structure

Selected 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™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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LAMP2 expression in normal human tissues (normalized intensities)
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
selected tissues (see all 19) fully expand


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

Liver (Hepatobiliary System)
Hepatocytes Liver Lobule

Ovary (Reproductive System)
Oviduct

Trophoblast (Extraembryonic Tissues)
Trophoblast Cells Trophoblast

Testis (Reproductive System)
Leydig Cells Testis Interstitium

LAMP2 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

LAMP2 Protein Expression

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

Custom PCR Arrays for LAMP2

Primer Products:		OriGene qPCR primer pairs and template standards for LAMP2 OriGene qSTAR qPCR primer pairs in human, mouse for LAMP2
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		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)
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This gene was present in the common ancestor of animals.

Orthologs for LAMP2 gene from Selected species (see all 13) 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}	74.46(n)¹ 61.94(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	58.81(n) 49.12(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	32(a)	1 ↔ 1	14(34448790-34456576) ENSDARG00000014914
fruit fly (Drosophila melanogaster)	Insecta	Lamp1⁶	Lamp1	21(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)
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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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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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

Site Specific Mutation Identification with PCR Assays

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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.)
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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

Selected diseases for LAMP2 (see all 43):
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danon disease vacuolar myopathy salla disease hermansky-pudlak syndrome

chediak-higashi syndrome cystinosis glycogen storage disease protein s deficiency

gaucher's disease pilocytic astrocytoma zellweger syndrome lysosomal storage disease

dilated cardiomyopathy hypertrophic cardiomyopathy hematopoietic stem cell transplantation tremor

myopathy myeloproliferative disorder hemangioma vasculitis

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

Danon disease Hypertrophic cardiomyopathy Myopathy Glycogen storage disease

Intellectual disability

LAMP2 for disorders About GeneDecksing

Congresses - knowledge worth sharing:
The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

Selected 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)
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PubMed articles for LAMP2 gene, integrated from 10 sources (see all 206):
(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. (N. Engl. J. Med. 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. (Neuromuscul. Disord. 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. (J. Biol. Chem. 1990)
Unifying nomenclature for the isoforms of the lysosomal membrane protein LAMP-2. (PubMed id 16190986)^{1, 2, 9} Eskelinen E.L....Saftig P. (Traffic 2005)
Shared genetic causes of cardiac hypertrophy in children and adults. (PubMed id 18403758)^{1, 4, 9} Morita H.... Seidman C.E. (N. Engl. J. Med. 2008)
Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)^{1, 4} Bailey S.D....Anand S. (Diabetes Care 2010)
Integral and associated lysosomal membrane proteins. (PubMed id 17897319)^{1, 2} Schroeder B.... Hasilik A. (Traffic 2007)
The DNA sequence of the human X chromosome. (PubMed id 15772651)^{1, 2} Ross M.T.... Bentley D.R. (Nature 2005)
Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952)^{1, 2} Liu T.... Smith R.D. (J. Proteome Res. 2005)
Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PubMed id 15340161)^{1, 2} Zhang Z. and Henzel W.J. (Protein Sci. 2004)

(in PubMed, OMIM, and NCBI Bookshelf)
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		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)
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Entrez Gene: 3920	HGNC: 6501	AceView: LAMP2	Ensembl:ENSG00000005893	euGenes: HUgn3920
ECgene: LAMP2	Kegg: 3920	H-InvDB: LAMP2

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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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/books/NBK1116/?term=LAMP2[genesymbol]

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

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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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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LAMP2 Gene

Lysosomal-Associated Membrane Protein 2

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LAMP2 Gene

Lysosomal-Associated Membrane Protein 2

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