http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMP2
LAMP2 Gene
GC0XM119346
lysosomal-associated membrane protein 2
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(According to GeneLocand/or HGNC, and/or
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according toSABiosciences)
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according toOCA and/or Proteopedia, Recombinant Proteins fromInvitrogen, Millipore, Sigma-Aldrich, R&D Systems,Enzo Life Sciences,Abnova, OriGene and/or,Abcam,
Biochemical Assays byInvitrogen, 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/orNovus Biologicals)
Search outside databases for aliases for LAMP2 gene
Previous GC identifers: GC0XM114382 GC0XM116550 GC0XM117540 GC0XM118318
(According to Entrez Gene,Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
EntrezGene summary for LAMP2:
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]
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
Gene Wiki entry for LAMP2
Genomic View:
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 Ensemblif different)
RefSeq DNA sequence:
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 Q99534
Alternative 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 ):
Antibodies for LAMP2:
Browse Antibodies Central at Invitrogen
Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Sigma-Aldrich Antibodies for LAMP2
Browse R&D Systems for Antibodies
Antibodies from Abcam (LAMP2a, LAMP2b, LAMP2), each with their AbpromiseSM
Monoclonal and Polyclonal Antibodies from Abnova (LAMP2)
3 InterPro domains/families:
(According to MGI Jun 06 2009, UniProtKB,IUBMB,and/or Genatlas,
shRNA from OriGene,Sigma-Aldrich, RNAi fromSigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products fromInvitrogen, Millipore,OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays fromMillipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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
Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (LAMP2)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (LAMP2)
Applied Biosystems Silencer® siRNAs for LAMP2
Sigma-Aldrich siRNA and siRNA Panels for LAMP2 Sigma-Aldrich shRNA for LAMP2
Clones:
Invitrogen Clones for LAMP2
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
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:
(Pathways according toInvitrogen (maps byGeneGo), Millipore, Cell Signaling Technology,Sigma-Aldrich, KEGGand/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to1UniProtKB, 2MINT, and/or3STRING, with links toIntAct and Ensembl, Ontologies according toGene Ontology Consortium01 Apr 2009 via Entrez Gene.)
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 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
Genatlas biochemistry entry for LAMP2:
lysosomal associated membrane protein 2
14 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Lamp2):
(Chemical Compounds according to UniProtKB,Enzo Life Sciences,Sigma-Aldrich, Tocris Bioscience, and/orNovoseek and Drugs according to Enzo Life Sciences and/orPharmGKB)
Gene Network CentralTM Interacting Genes and Proteins Network for LAMP2 5/17 Interacting proteins for LAMP2 (ENSP000003603963) via UniProtKB, MINT, and/or STRING (see all 17 )About this table
1 Gene Ontology (GO) biological process term (links to tree view):
(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) orGenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/orAceView,
non coding RNAs according to RNAdb,
ESTs according toGeneTide,
exon structure fromGeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products fromInvitrogen, Millipore, and/orAbnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich,OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays fromApplied Biosystems)
Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (LAMP2)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (LAMP2)
Sigma-Aldrich siRNA and siRNA Panels for LAMP2 Sigma-Aldrich shRNA for LAMP2
Applied Biosystems Silencer® siRNAs:
NM_001122606 NM_002294 NM_013995
REFSEQ mRNAs for LAMP2 gene (3 alternative transcripts):
Applied Biosystems TaqMan ® Gene Expression Assays:
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
(Experimental results according to 1GeneNoteand GNF BioGPS,
probe sets-to-genes annotations according to2GeneAnnot , 3GeneTide , 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 toSOURCE, and/or GNFBioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays fromApplied Biosystems )
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
5/13 Alternative Splicing Database (ASD) splice patterns (SP) for LAMP2 (see all 13 )
ECgene alternative splicing isoforms for LAMP2
3 Ensembl transcripts including schematic representations:
ENST00000371335 ENST00000200639 ENST00000371345
LAMP2 expression in normal and diseased human tissues
/ 2 / 3
11 probe-sets matching LAMP2 gene
# genes
1
1
1
1
1
1
1
1
1
1
1
Sensitivity
1.00
1.00
1.00
1.00
1.00
1.00
1.00
1.00
1.00
1.00
1.00
Specificity
1.00
1.00
1.00
1.00
1.00
1.00
1.00
1.00
1.00
1.00
1.00
Correlation
0.50
0.89
0.77
--
--
--
--
--
--
--
--
Length
0.93
1.14
0.95
--
--
--
--
--
--
--
--
Gb_Accession
U36336
AA207254
X77196
J04183
AI150000
NM_002294
NM_013995
--
--
--
--
Consensus
1.00
0.60
0.80
0.80
0.40
0.60
0.60
--
--
--
--
Uniqueness
0.87
0.78
0.83
0.83
0.67
0.78
0.78
--
--
--
--
Score
0.94
0.69
0.82
0.82
0.55
0.69
0.69
--
--
--
--
Rank
1
1
1
1
1
1
1
--
--
--
--
Data from (Publications) and GNF BioGPS
(Paralogs according to1HomoloGene
and 2Ensembl, Pseudogenes according to3Pseudogene.org)
(According to the 1NCBI SNP Database, 2Ensembl,3PupaSUITE, andUniProtKB, Linkage Disequilibrium by HapMap,Genotyping Reagents fromApplied Biosystems)
SOURCE 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 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
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 gene
10/193 NCBI SNPs in LAMP2 are shown (see all 193 )
AB
Genomic Data
Transcription Data
Allele Frequencies
Valid
A,C,F,H,O
A,C,F,H,O
A,C,F,H
A,C,F,H
A,C,F,H
A,C,F,H
A,C,F,H
A,C,F,H
A,C,F,H
A,C,F,H
Chr X pos
119444168(+)
119455569(+)
119446746(+)
119455582(+)
119455101(-)
119446811(+)
119454167(+)
119444535(-)
119448720(+)
119448909(-)
Recs
--
2
2
1
2
2
1
2
2
1
1
AA
Chg
--
--
--
--
--
--
--
--
--
--
--
More
--
Recs
--
5
10
8
4
5
7
4
7
8
4
Allele
freq
Pop
MN EU EA WA
EA NA EU WA
EU EA WA
EU EA WA
MN EU EA WA
NA EU EA WA
EU EA WA
MN NA EU EA
EU EA WA NA
EU EA WA
Total
sample
606
808
626
418
602
520
418
572
601
418
More
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HapMap Linkage Disequilibrium images for LAMP2 (up to first 250kb)
OMIM: 309060 disorders: 300257
UniProtKB/Swiss-Prot: LAMP2_HUMAN, P13473
Defects in LAMP2 are the cause of Danon disease (DAND) [MIM:300257]; also known as
glycogen storage disease type 2B (GSD2B). 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
10/16 Novoseek disease relationships for LAMP2 gene (see all 16 )
1 PharmGKB disease relationship for LAMP2 gene
PharmGKB Relations
FA GN
PubMed IDs for articles supporting these relationships
(in PubMed. Associations of this gene to articles via1Novoseek, 2HGNC,3Entrez Gene,4UniProtKB/Swiss-Prot,5UniProtKB/TrEMBL,6GAD, and/or7PharmGKB)
(in PubMed, OMIM, andNCBI Bookshelf)
(According to Entrez Gene,HGNC, AceView,euGenes, Ensembl,miRBase, ECgene, and/orH-InvDB)
(According to HUGE)
Human Gene Mutation Database: LAMP2
Human Genome Epidemiology Navigator: LAMP2 (2 documents)
--
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)
(According to ATLAS,HORDE, IMGT, MTDB,LEIDEN, UniProtKB/Swiss-Prot, and/orUniProtKB/TrEMBL,
Wikipedia and/orGeneReviews viaUniProtKB/Swiss-Prot)
--
--
(Reagents available fromApplied Biosystems, Antibodies and assays byCell Signaling Technology,Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore,Abnova, and/or Invitrogen, Clones available fromOriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/orTocris Bioscience)
Products for LAMP2: