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Aliases & Descriptions for LAMP2
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases CD107b 1 , 2 LAMP-2 3 LAMPB 2 , 5 LGP110 2 OTTHUMP00000023943 2 OTTHUMP00000023944 2
Descriptions CD107 antigen-like family member B 3 CD107b antigen 3 lysosomal-associated membrane protein 2 2 lysosome-associated membrane protein 2 2
Search outside databases for aliases for LAMP2 genePrevious GC identifers: GC0XM114382 GC0XM116550 GC0XM117540 GC0XM118318
Summaries for LAMP2 (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for LAMP2 : The protein encoded by this gene is a member of a family of membrane glycoproteins. Thisglycoprotein provides selectins with carbohydrate ligands. It may play a role in tumor cellmetastasis. It may also function in the protection, maintenance, and adhesion of the lysosome.Alternative splicing of this gene results in multiple transcript variants encoding distinctproteins. [provided by RefSeq] UniProtKB/Swiss-Prot: LAMP2_HUMAN, P13473 Function : Implicated in tumor cell metastasis. May function in protection of the lysosomal membranefrom autodigestion, maintenance of the acidic environment of the lysosome, adhesion when expressedon the cell surface (plasma membrane), and inter- and intracellular signal transduction
Gene Wiki entry for LAMP2
Genomic Location for LAMP2
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the LAMP2 gene 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) GeneLoc gene densities for chromosome X GeneLoc Exon Structure
GeneLoc location for GC0XM119346:
(about GC identifiers )
Start:
119,446,367 bp from pter
End:
119,487,189 bp from pter
Size:
40,823 bases
Orientation:
minus strand
RefSeq DNA sequence: NC_000023.9 NT_011786.15 Proteins for LAMP2
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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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
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 : Q16641 Q96J30 Q99534Alternative splicing : 2 isoforms : P13473-1 P13473-2
Post-translational modifications:
O- and N-glycosylated; some of the 16 N-linked glycans are polylactosaminoglycans1
REFSEQ proteins (3 alternative transcripts):
NP_001116078.1 NP_002285.1 NP_054701.1 ENSEMBL proteins: ENSP00000360386 ENSP00000200639 ENSP00000360396 Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 5/7 Gene Ontology (GO) cellular component terms (links to tree view) (see all 7
):
About this table Antibodies for LAMP2: Assays for LAMP2:
Protein
Domains/ Families for LAMP2(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry P13473 ProtoNet protein and cluster: P13473
1 Blocks protein family : IPB002000 Lysosome-associated membrane glycoprotein (Lamp)/CD68 UniProtKB/Swiss-Prot: LAMP2_HUMAN, P13473 Similarity : Belongs to the LAMP family
Gene Function for LAMP2
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
Sigma-Aldrich , RNAi from
Sigma-Aldrich ,
RNAi Products ,
Clones , and
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Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3 ): NM_013995 Applied Biosystems Silencer ® siRNAs for LAMP2 Sigma-Aldrich siRNA and siRNA Panels for LAMP2 Sigma-Aldrich shRNA for LAMP2 Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 3 ): NM_001122606                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 3 ): NM_001122606                                  untagged cDNA clones in CMV expression vector (see all 3 ): NM_001122606  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_001122606 UniProtKB/Swiss-Prot: LAMP2_HUMAN, P13473 Function : Implicated in tumor cell metastasis. May function in protection of the lysosomal membranefrom autodigestion, maintenance of the acidic environment of the lysosome, adhesion when expressedon the cell surface (plasma membrane), and inter- and intracellular signal transduction
Genatlas biochemistry entry for LAMP2 :lysosomal associated membrane protein 2
14 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Lamp2) : Pathways & Interactions for LAMP2
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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Gene Network CentralTM Interacting Genes and Proteins Network for LAMP2 5/17 Interacting proteins for LAMP2 (ENSP00000360396 3 ) via UniProtKB, MINT, and/or STRING (see all 17
)About this table 1 Gene Ontology (GO) biological process term (links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0005977 glycogen metabolic process
IEA --
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Drugs & Compounds for LAMP2 (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Browse Tocris compounds for LAMP2 6 Novoseek chemical compound relationships for LAMP2 gene
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Transcripts for LAMP2(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from Invitrogen ,
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3 ): NM_013995 Sigma-Aldrich siRNA and siRNA Panels for LAMP2 Sigma-Aldrich shRNA for LAMP2 Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_001122606 NM_002294 NM_013995
REFSEQ mRNAs for LAMP2 gene (3 alternative transcripts): NM_001122606.1 NM_002294.2 NM_013995.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_001122606 NM_002294 NM_013995
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 3 ): NM_001122606                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 3 ): NM_001122606                                  untagged cDNA clones in CMV expression vector (see all 3 ): NM_001122606  
Additional cDNA sequence: AK126232.1 AK291090.1 AK293931.1 AK295038.1 AK304405.1 AY561849.1 BC002965.1 BC040653.2 BX648255.1 CR606114.1 CR607757.1 CR616621.1 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.120007 DT.100673206 DT.92457699 DT.121318831 DT.95215613 DT.95371856 DT.121318841 DT.92457712 DT.121318801 DT.95371845 DT.100033580 DT.121318813 DT.121318819 DT.100858615 DT.100886554 DT.91744068 DT.121318774 DT.100733496 DT.121318814
24/809 AceView cDNA sequences (see all 809
):BG109715 BU674076 AA707470 AI379418 BE894736 AW027976 CD370599 BQ721319 AI221464 BM784356 AA788977 AA598735 AA909130 AI911152 BM667236 AI422766 AI767340 BU181960 CB157104 AA148755 Z39048 BM967103 AI753952 BG169056
highest scoring ESTs for LAMP2 :U36336 AA569228 BE302726 BG702350 BG771468 BI668152 R13247 R14336 R31719 AA148995
Unigene Cluster for LAMP2: Lysosomal-associated membrane protein 2 Hs.496684 [show with all ESTs ] Unigene Representative Sequence: NM_002294 GeneLoc Exon Structure 5/13 Alternative Splicing Database (ASD) splice patterns (SP) for LAMP2 (see all 13
) 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 :              
About this scheme ECgene alternative splicing isoforms for LAMP2 3 Ensembl transcripts including schematic representations : ENST00000371335
ENST00000200639
ENST00000371345
Expression for LAMP2
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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LAMP2 expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for LAMP2 1 / 2 / 3
11 probe-sets matching LAMP2 gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: GCCATTATAASOURCE GeneReport for Unigene cluster: Hs.496684 Expression variation in blood from EXPOLDB for LAMP2
UniProtKB/Swiss-Prot: LAMP2_HUMAN, P13473 Tissue specificity : Isoform LAMP-2A is highly expressed in placenta, lung and liver, less in kidneyand pancreas, low in brain and skeletal muscle. Isoform LAMP-2B is highly expressed in skeletalmuscle, less in brain, placenta, lung, kidney and pancreas, very low in liver
Orthologs for LAMP2
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for LAMP2 gene from 5/6 species (see all 6
)
About this table Species with no ortholog for LAMP2 ENSEMBL Gene Tree for LAMP2 Paralogs for LAMP2 (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for LAMP2 gene LAMP1 2 LAMP3 2 CD68 2
SNPs/Variants for LAMP2 (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for LAMP2 (up to first 250kb)
Disorders & Mutations for LAMP2
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 309060 disorders : 300257 UniProtKB/Swiss-Prot: LAMP2_HUMAN, P13473
Defects in LAMP2 are the cause of Danon disease (DAND) [MIM:300257]; also known asglycogen storage disease type 2B (GSD2B). DAND is a lysosomal glycogen storage diseasecharacterized by the clinical triad of cardiomyopathy, vacuolar myopathy and mental retardation.It is often associated with an accumulation of glycogen in muscle and lysosomes
10/16 Novoseek disease relationships for LAMP2 gene (see all 16
)
Disease
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
danon disease
98.63
43
18282207 (4), 11427988 (3), 18004770 (2), 16217705 (2) (see all 27 )
myopathy
75.67
17
16565504 (2), 15907287 (2), 18376150 (1), 15889279 (1) (see all 11 )
lysosomal acid phosphatase
74.60
2
9746610 (1), 8370478 (1)
glycogen storage disease
69.98
3
11552028 (1), 18691923 (1), 16973206 (1)
pompe disease
68.19
1
15673802 (1)
hermansky-pudlak syndrome
64.43
1
8743190 (1)
cardiomyopathy
63.94
11
19318653 (4), 18376150 (1), 15907287 (1), 15889279 (1) (see all 8 )
protein deficiency
53.17
8
16565504 (3), 18393115 (1), 15907287 (1)
mental retardation
50.73
4
16565504 (1), 18004770 (1), 15907287 (1), 16217705 (1)
dilated cardiomyopathy
45.26
1
17541230 (1)
About this table 1 PharmGKB disease relationship for LAMP2 gene About this table Human Gene Mutation Database : LAMP2 Human Genome Epidemiology Navigator: LAMP2 (2 documents)
Medical News for LAMP2 (Possibly Related Articles in
Doctor's Guide )
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--
Publications for LAMP2 (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/148 PubMed articles for LAMP2 gene (see all 148
): Glycogen storage diseases presenting as hypertrophic cardiomyopathy. (PubMed id 15673802) 1, 3, 4 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, 3, 4 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, 3, 4 Carlsson S.R. and Fukuda M. (1990) The DNA sequence of the human X chromosome. (PubMed id 15772651) 3, 4 Ross M.T.... Bentley D.R. (2005) Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952) 3, 4 Liu T.... Smith R.D. (2005) Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PubMed id 15340161) 3, 4 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) 3, 4 Gerhard D.S....Malek J. (2004) Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry. (PubMed id 12754519) 3, 4 Zhang H.... Aebersold R. (2003) An alternatively spliced form of the human lysosome-associated membrane protein-2 gene is expressed in a tissue-specific manner. (PubMed id 7488019) 3, 4 Konecki D.S....Lichter-Konecki U. (1995) Complete cDNA sequence of human lysosome-associated membrane protein- 2. (PubMed id 7999007) 3, 4 Konecki D.S.... Lichter-Konecki U. (1994)
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Genome Databases showing LAMP2
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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(According to HUGE )
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Specialized Databases showing LAMP2 (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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-- Services for LAMP2 (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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Databases for LAMP2
Disorders for LAMP2
Domains/Families for LAMP2
Drugs/Compounds for LAMP2
Expression for LAMP2
Function for LAMP2
Location for LAMP2
Medical News for LAMP2
Orthologs for LAMP2
Paralogs for LAMP2
Pathways/Interactions for LAMP2
Proteins for LAMP2
Publications for LAMP2
SNPs for LAMP2
Search Box for LAMP2
Services for LAMP2
Summaries for LAMP2
Technologies for LAMP2
Transcripts for LAMP2
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GeneCards Homepage - Last full update: 2 Jul 2009
Incremental update: 13 Oct 2009