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Protein

Lysosome-associated membrane glycoprotein 2

Gene

LAMP2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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.1 Publication

GO - Molecular functioni

  • enzyme binding Source: UniProtKB

GO - Biological processi

  • chaperone-mediated autophagy Source: ParkinsonsUK-UCL
  • muscle cell cellular homeostasis Source: Ensembl
  • negative regulation of protein homooligomerization Source: ParkinsonsUK-UCL
  • platelet degranulation Source: Reactome
  • protein import Source: ParkinsonsUK-UCL
  • protein stabilization Source: UniProtKB
  • regulation of protein stability Source: ParkinsonsUK-UCL
Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000005893-MONOMER.
ReactomeiR-HSA-114608. Platelet degranulation.
R-HSA-6798695. Neutrophil degranulation.

Protein family/group databases

TCDBi9.A.16.1.2. the lysosomal protein import (lpi) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Lysosome-associated membrane glycoprotein 2
Short name:
LAMP-2
Short name:
Lysosome-associated membrane protein 2
Alternative name(s):
CD107 antigen-like family member B
CD_antigen: CD107b
Gene namesi
Name:LAMP2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

HGNCiHGNC:6501. LAMP2.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini29 – 375LumenalSequence analysisAdd BLAST347
Transmembranei376 – 399HelicalPROSITE-ProRule annotationAdd BLAST24
Topological domaini400 – 410CytoplasmicPROSITE-ProRule annotationAdd BLAST11

GO - Cellular componenti

  • autolysosome Source: MGI
  • chaperone-mediated autophagy translocation complex Source: ParkinsonsUK-UCL
  • extracellular exosome Source: UniProtKB
  • extracellular space Source: UniProtKB
  • integral component of membrane Source: UniProtKB-KW
  • late endosome Source: MGI
  • late endosome membrane Source: MGI
  • lysosomal lumen Source: ParkinsonsUK-UCL
  • lysosomal membrane Source: UniProtKB
  • lysosome Source: MGI
  • membrane Source: MGI
  • perinuclear region of cytoplasm Source: ParkinsonsUK-UCL
  • phagocytic vesicle membrane Source: Ensembl
  • plasma membrane Source: Reactome
  • platelet dense granule membrane Source: MGI
  • trans-Golgi network Source: ParkinsonsUK-UCL
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Endosome, Lysosome, Membrane

Pathology & Biotechi

Involvement in diseasei

Danon disease (DAND)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionDAND 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.
See also OMIM:300257
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_026230321W → R in DAND. 2 PublicationsCorresponds to variant rs104894859dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Glycogen storage disease

Organism-specific databases

DisGeNETi3920.
MalaCardsiLAMP2.
MIMi300257. phenotype.
OpenTargetsiENSG00000005893.
Orphaneti34587. Glycogen storage disease due to LAMP-2 deficiency.
PharmGKBiPA30285.

Polymorphism and mutation databases

BioMutaiLAMP2.
DMDMi1708854.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 283 PublicationsAdd BLAST28
ChainiPRO_000001711029 – 410Lysosome-associated membrane glycoprotein 2Add BLAST382

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi32N-linked (GlcNAc...) (polylactosaminoglycan)1 Publication1
Glycosylationi38N-linked (GlcNAc...) (polylactosaminoglycan)1 Publication1
Disulfide bondi41 ↔ 79PROSITE-ProRule annotation
Glycosylationi49N-linked (GlcNAc...)2 Publications1
Glycosylationi58N-linked (GlcNAc...)1 Publication1
Glycosylationi75N-linked (GlcNAc...)1 Publication1
Glycosylationi101N-linked (GlcNAc...)3 Publications1
Glycosylationi123N-linked (GlcNAc...)2 Publications1
Disulfide bondi153 ↔ 189PROSITE-ProRule annotation
Glycosylationi179N-linked (GlcNAc...)1 Publication1
Glycosylationi195O-linked (GalNAc...)1 Publication1
Glycosylationi196O-linked (GalNAc...)1 Publication1
Glycosylationi200O-linked (GalNAc...)1 Publication1
Glycosylationi203O-linked (GalNAc...)1 Publication1
Glycosylationi204O-linked (GalNAc...)1 Publication1
Glycosylationi207O-linked (GalNAc...); partial1 Publication1
Glycosylationi209O-linked (GalNAc...); partial1 Publication1
Glycosylationi210O-linked (GalNAc...)1 Publication1
Glycosylationi211O-linked (GalNAc...)1 Publication1
Glycosylationi213O-linked (GalNAc...); partial1 Publication1
Glycosylationi229N-linked (GlcNAc...)1 Publication1
Disulfide bondi232 ↔ 265PROSITE-ProRule annotation
Glycosylationi242N-linked (GlcNAc...)1 Publication1
Glycosylationi257N-linked (GlcNAc...)2 Publications1
Glycosylationi275N-linked (GlcNAc...)1 Publication1
Glycosylationi300N-linked (GlcNAc...)1 Publication1
Glycosylationi307N-linked (GlcNAc...) (polylactosaminoglycan)1 Publication1
Glycosylationi317N-linked (GlcNAc...)1 Publication1
Disulfide bondi331 ↔ 368PROSITE-ProRule annotation
Glycosylationi356N-linked (GlcNAc...)1 Publication1

Post-translational modificationi

O- and N-glycosylated; some of the 16 N-linked glycans are polylactosaminoglycans.4 Publications

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

EPDiP13473.
MaxQBiP13473.
PeptideAtlasiP13473.
PRIDEiP13473.

PTM databases

iPTMnetiP13473.
PhosphoSitePlusiP13473.
SwissPalmiP13473.
UniCarbKBiP13473.

Miscellaneous databases

PMAP-CutDBP13473.

Expressioni

Tissue specificityi

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.

Gene expression databases

BgeeiENSG00000005893.
CleanExiHS_LAMP2.
ExpressionAtlasiP13473. baseline and differential.
GenevisibleiP13473. HS.

Organism-specific databases

HPAiCAB005272.
HPA029100.

Interactioni

Subunit structurei

Interacts with MLLT11.1 Publication

GO - Molecular functioni

  • enzyme binding Source: UniProtKB

Protein-protein interaction databases

BioGridi110114. 82 interactors.
IntActiP13473. 14 interactors.
MINTiMINT-5003281.

Structurei

Secondary structure

1410
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi374 – 377Combined sources4
Helixi380 – 400Combined sources21

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2MOFNMR-A369-410[»]
2MOMNMR-A/B/C369-410[»]
ProteinModelPortaliP13473.
SMRiP13473.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni29 – 192First lumenal domainAdd BLAST164
Regioni193 – 228HingeAdd BLAST36
Regioni229 – 375Second lumenal domainAdd BLAST147

Sequence similaritiesi

Belongs to the LAMP family.PROSITE-ProRule annotation

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

GeneTreeiENSGT00530000063068.
HOGENOMiHOG000230942.
HOVERGENiHBG052303.
InParanoidiP13473.
KOiK06528.
OMAiAEECFAD.
OrthoDBiEOG091G09EV.
PhylomeDBiP13473.
TreeFamiTF316339.

Family and domain databases

InterProiIPR018134. LAMP_CS.
IPR002000. Lysosome-assoc_membr_glycop.
[Graphical view]
PANTHERiPTHR11506. PTHR11506. 1 hit.
PfamiPF01299. Lamp. 1 hit.
[Graphical view]
PRINTSiPR00336. LYSASSOCTDMP.
PROSITEiPS00310. LAMP_1. 1 hit.
PS00311. LAMP_2. 1 hit.
PS51407. LAMP_3. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform LAMP-2A (identifier: P13473-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MVCFRLFPVP GSGLVLVCLV LGAVRSYALE LNLTDSENAT CLYAKWQMNF
60 70 80 90 100
TVRYETTNKT YKTVTISDHG TVTYNGSICG DDQNGPKIAV QFGPGFSWIA
110 120 130 140 150
NFTKAASTYS IDSVSFSYNT GDNTTFPDAE DKGILTVDEL LAIRIPLNDL
160 170 180 190 200
FRCNSLSTLE KNDVVQHYWD VLVQAFVQNG TVSTNEFLCD KDKTSTVAPT
210 220 230 240 250
IHTTVPSPTT TPTPKEKPEA GTYSVNNGND TCLLATMGLQ LNITQDKVAS
260 270 280 290 300
VININPNTTH STGSCRSHTA LLRLNSSTIK YLDFVFAVKN ENRFYLKEVN
310 320 330 340 350
ISMYLVNGSV FSIANNNLSY WDAPLGSSYM CNKEQTVSVS GAFQINTFDL
360 370 380 390 400
RVQPFNVTQG KYSTAQDCSA DDDNFLVPIA VGAALAGVLI LVLLAYFIGL
410
KHHHAGYEQF
Length:410
Mass (Da):44,961
Last modified:October 1, 1996 - v2
Checksum:i9E08E3B62D58F454
GO
Isoform LAMP-2B (identifier: P13473-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     367-410: DCSADDDNFL...KHHHAGYEQF → ECSLDDDTIL...RKSYAGYQTL

Show »
Length:410
Mass (Da):44,956
Checksum:i70B523369D40DEFA
GO
Isoform LAMP-2C (identifier: P13473-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     366-410: QDCSADDDNF...KHHHAGYEQF → EECSADSDLN...RKSRTGYQSV

Show »
Length:411
Mass (Da):45,170
Checksum:iB37AAC83BA1C3B1B
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti8 – 13PVPGSG → RFRSGLR (PubMed:8407947).Curated6
Sequence conflicti53R → G (PubMed:8407947).Curated1
Sequence conflicti68D → V in AAB41647 (PubMed:8517882).Curated1
Sequence conflicti111I → N in AAB41647 (PubMed:8517882).Curated1
Sequence conflicti143I → Y in AAB41647 (PubMed:8517882).Curated1
Sequence conflicti220A → P in AAB41647 (PubMed:8517882).Curated1
Sequence conflicti234L → R in AAB41647 (PubMed:8517882).Curated1
Sequence conflicti263 – 269GSCRSHT → AAAVSH (PubMed:8407947).Curated7
Sequence conflicti322 – 326DAPLG → MPP in AAA60383 (PubMed:3198605).Curated5

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_011992256P → H.Corresponds to variant rs1043878dbSNPEnsembl.1
Natural variantiVAR_026230321W → R in DAND. 2 PublicationsCorresponds to variant rs104894859dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_042519366 – 410QDCSA…GYEQF → EECSADSDLNFLIPVAVGVA LGFLIIVVFISYMIGRRKSR TGYQSV in isoform LAMP-2C. 1 PublicationAdd BLAST45
Alternative sequenceiVSP_003044367 – 410DCSAD…GYEQF → ECSLDDDTILIPIIVGAGLS GLIIVIVIAYVIGRRKSYAG YQTL in isoform LAMP-2B. 3 PublicationsAdd BLAST44

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
J04183 mRNA. Translation: AAA60383.1.
L09717
, L09709, L09710, L09711, L09712, L09713, L09714, L09715, L09716 Genomic DNA. Translation: AAB41647.1.
X77196 mRNA. Translation: CAA54416.1.
S79873 mRNA. Translation: AAB35426.1.
U36336 mRNA. Translation: AAA91149.1.
AY561849 mRNA. Translation: AAS67876.1.
AK291090 mRNA. Translation: BAF83779.1.
AC002476 Genomic DNA. Translation: AAB67313.1.
AC002476 Genomic DNA. Translation: AAB67314.1.
CH471107 Genomic DNA. Translation: EAX11881.1.
CH471107 Genomic DNA. Translation: EAX11882.1.
CH471107 Genomic DNA. Translation: EAX11883.1.
CH471107 Genomic DNA. Translation: EAX11884.1.
BC002965 mRNA. Translation: AAH02965.1.
CCDSiCCDS14599.1. [P13473-1]
CCDS14600.1. [P13473-2]
CCDS48159.1. [P13473-3]
PIRiJC2414. B31959.
JC4317.
RefSeqiNP_001116078.1. NM_001122606.1. [P13473-3]
NP_002285.1. NM_002294.2. [P13473-1]
NP_054701.1. NM_013995.2. [P13473-2]
UniGeneiHs.496684.

Genome annotation databases

EnsembliENST00000200639; ENSP00000200639; ENSG00000005893. [P13473-1]
ENST00000371335; ENSP00000360386; ENSG00000005893. [P13473-2]
ENST00000434600; ENSP00000408411; ENSG00000005893. [P13473-3]
GeneIDi3920.
KEGGihsa:3920.
UCSCiuc004ess.5. human. [P13473-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
J04183 mRNA. Translation: AAA60383.1.
L09717
, L09709, L09710, L09711, L09712, L09713, L09714, L09715, L09716 Genomic DNA. Translation: AAB41647.1.
X77196 mRNA. Translation: CAA54416.1.
S79873 mRNA. Translation: AAB35426.1.
U36336 mRNA. Translation: AAA91149.1.
AY561849 mRNA. Translation: AAS67876.1.
AK291090 mRNA. Translation: BAF83779.1.
AC002476 Genomic DNA. Translation: AAB67313.1.
AC002476 Genomic DNA. Translation: AAB67314.1.
CH471107 Genomic DNA. Translation: EAX11881.1.
CH471107 Genomic DNA. Translation: EAX11882.1.
CH471107 Genomic DNA. Translation: EAX11883.1.
CH471107 Genomic DNA. Translation: EAX11884.1.
BC002965 mRNA. Translation: AAH02965.1.
CCDSiCCDS14599.1. [P13473-1]
CCDS14600.1. [P13473-2]
CCDS48159.1. [P13473-3]
PIRiJC2414. B31959.
JC4317.
RefSeqiNP_001116078.1. NM_001122606.1. [P13473-3]
NP_002285.1. NM_002294.2. [P13473-1]
NP_054701.1. NM_013995.2. [P13473-2]
UniGeneiHs.496684.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2MOFNMR-A369-410[»]
2MOMNMR-A/B/C369-410[»]
ProteinModelPortaliP13473.
SMRiP13473.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110114. 82 interactors.
IntActiP13473. 14 interactors.
MINTiMINT-5003281.

Protein family/group databases

TCDBi9.A.16.1.2. the lysosomal protein import (lpi) family.

PTM databases

iPTMnetiP13473.
PhosphoSitePlusiP13473.
SwissPalmiP13473.
UniCarbKBiP13473.

Polymorphism and mutation databases

BioMutaiLAMP2.
DMDMi1708854.

Proteomic databases

EPDiP13473.
MaxQBiP13473.
PeptideAtlasiP13473.
PRIDEiP13473.

Protocols and materials databases

DNASUi3920.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000200639; ENSP00000200639; ENSG00000005893. [P13473-1]
ENST00000371335; ENSP00000360386; ENSG00000005893. [P13473-2]
ENST00000434600; ENSP00000408411; ENSG00000005893. [P13473-3]
GeneIDi3920.
KEGGihsa:3920.
UCSCiuc004ess.5. human. [P13473-1]

Organism-specific databases

CTDi3920.
DisGeNETi3920.
GeneCardsiLAMP2.
HGNCiHGNC:6501. LAMP2.
HPAiCAB005272.
HPA029100.
MalaCardsiLAMP2.
MIMi300257. phenotype.
309060. gene.
neXtProtiNX_P13473.
OpenTargetsiENSG00000005893.
Orphaneti34587. Glycogen storage disease due to LAMP-2 deficiency.
PharmGKBiPA30285.
GenAtlasiSearch...

Phylogenomic databases

GeneTreeiENSGT00530000063068.
HOGENOMiHOG000230942.
HOVERGENiHBG052303.
InParanoidiP13473.
KOiK06528.
OMAiAEECFAD.
OrthoDBiEOG091G09EV.
PhylomeDBiP13473.
TreeFamiTF316339.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000005893-MONOMER.
ReactomeiR-HSA-114608. Platelet degranulation.
R-HSA-6798695. Neutrophil degranulation.

Miscellaneous databases

ChiTaRSiLAMP2. human.
GeneWikiiLAMP2.
GenomeRNAii3920.
PMAP-CutDBP13473.
PROiP13473.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000005893.
CleanExiHS_LAMP2.
ExpressionAtlasiP13473. baseline and differential.
GenevisibleiP13473. HS.

Family and domain databases

InterProiIPR018134. LAMP_CS.
IPR002000. Lysosome-assoc_membr_glycop.
[Graphical view]
PANTHERiPTHR11506. PTHR11506. 1 hit.
PfamiPF01299. Lamp. 1 hit.
[Graphical view]
PRINTSiPR00336. LYSASSOCTDMP.
PROSITEiPS00310. LAMP_1. 1 hit.
PS00311. LAMP_2. 1 hit.
PS51407. LAMP_3. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiLAMP2_HUMAN
AccessioniPrimary (citable) accession number: P13473
Secondary accession number(s): A8K4X5
, D3DTF0, Q16641, Q6Q3G8, Q96J30, Q99534, Q9UD93
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 1, 1990
Last sequence update: October 1, 1996
Last modified: November 30, 2016
This is version 186 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human cell differentiation molecules
    CD nomenclature of surface proteins of human leucocytes and list of entries
  2. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.