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Protein

Lysosome membrane protein 2

Gene

SCARB2

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

Functioni

Acts as a lysosomal receptor for glucosylceramidase (GBA) targeting.1 Publication
(Microbial infection) Acts as a receptor for enterovirus 71.1 Publication

GO - Molecular functioni

  • enzyme binding Source: BHF-UCL
  • virus receptor activity Source: UniProtKB-KW

GO - Biological processi

  • protein targeting to lysosome Source: BHF-UCL
Complete GO annotation...

Keywords - Molecular functioni

Host cell receptor for virus entry, Receptor

Keywords - Biological processi

Host-virus interaction

Enzyme and pathway databases

BioCyciZFISH:ENSG00000138760-MONOMER.
ReactomeiR-HSA-8856825. Cargo recognition for clathrin-mediated endocytosis.
R-HSA-8856828. Clathrin-mediated endocytosis.

Names & Taxonomyi

Protein namesi
Recommended name:
Lysosome membrane protein 2
Alternative name(s):
85 kDa lysosomal membrane sialoglycoprotein
Short name:
LGP85
CD36 antigen-like 2
Lysosome membrane protein II
Short name:
LIMP II
Scavenger receptor class B member 2
CD_antigen: CD36
Gene namesi
Name:SCARB2
Synonyms:CD36L2, LIMP2, LIMPII
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

HGNCiHGNC:1665. SCARB2.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini2 – 4CytoplasmicSequence analysis3
Transmembranei5 – 27HelicalSequence analysisAdd BLAST23
Topological domaini28 – 433LumenalSequence analysisAdd BLAST406
Transmembranei434 – 459HelicalSequence analysisAdd BLAST26
Topological domaini460 – 478CytoplasmicSequence analysisAdd BLAST19

GO - Cellular componenti

  • extracellular exosome Source: UniProtKB
  • focal adhesion Source: UniProtKB
  • integral component of membrane Source: UniProtKB-KW
  • lysosomal lumen Source: BHF-UCL
  • lysosomal membrane Source: UniProtKB
  • membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Lysosome, Membrane

Pathology & Biotechi

Involvement in diseasei

Epilepsy, progressive myoclonic 4, with or without renal failure (EPM4)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive progressive myoclonic epilepsy associated with renal failure in some cases. Cognitive function is preserved. Myoclonus is a brief, involuntary twitching of a muscle or a group of muscles.
See also OMIM:254900
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_066744363H → N in EPM4; no renal failure. 1 PublicationCorresponds to variant rs758857853dbSNPEnsembl.1

Genetic variants in SCARB2 can act as modifier of the phenotypic expression and severity of Gaucher disease.

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi475L → A, G, D or V: Prevents the targeting of the protein to lysosomes. 1 Publication1
Mutagenesisi475L → I: Some loss in the efficiency of targeting of the protein to lysosomes. 1 Publication1
Mutagenesisi476I → A or V: Does not prevent the targeting of the protein to lysosomes completely. 1 Publication1
Mutagenesisi476I → D, E or G: Prevents the targeting of the protein to lysosomes. 1 Publication1
Mutagenesisi476I → L: Normal targeting of the protein to lysosomes. 1 Publication1
Mutagenesisi477R → A, E, G, K or Q: Normal targeting of the protein to lysosomes. 1 Publication1
Mutagenesisi478T → G, I, S or V: Normal targeting of the protein to lysosomes. 1 Publication1

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

DisGeNETi950.
MalaCardsiSCARB2.
MIMi254900. phenotype.
OpenTargetsiENSG00000138760.
Orphaneti163696. Action myoclonus - renal failure syndrome.
77259. Gaucher disease type 1.
308. Unverricht-Lundborg disease.
PharmGKBiPA35038.

Polymorphism and mutation databases

BioMutaiSCARB2.
DMDMi2498525.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedBy similarity
ChainiPRO_00001441552 – 478Lysosome membrane protein 2Add BLAST477

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi45N-linked (GlcNAc...)2 Publications1
Glycosylationi68N-linked (GlcNAc...)2 Publications1
Glycosylationi105N-linked (GlcNAc...)1 Publication1
Glycosylationi206N-linked (GlcNAc...)2 Publications1
Glycosylationi224N-linked (GlcNAc...)1 Publication1
Glycosylationi249N-linked (GlcNAc...)3 Publications1
Disulfide bondi274 ↔ 3291 Publication
Glycosylationi304N-linked (GlcNAc...)2 Publications1
Disulfide bondi312 ↔ 3181 Publication
Glycosylationi325N-linked (GlcNAc...)2 Publications1
Glycosylationi412N-linked (GlcNAc...)2 Publications1
Glycosylationi430N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

EPDiQ14108.
PaxDbiQ14108.
PeptideAtlasiQ14108.
PRIDEiQ14108.

PTM databases

iPTMnetiQ14108.
PhosphoSitePlusiQ14108.
SwissPalmiQ14108.

Expressioni

Gene expression databases

BgeeiENSG00000138760.
CleanExiHS_SCARB2.
ExpressionAtlasiQ14108. baseline and differential.
GenevisibleiQ14108. HS.

Organism-specific databases

HPAiCAB015415.
HPA018014.

Interactioni

Subunit structurei

Interacts with GBA.2 Publications
(Microbial infection) Interacts with enterovirus 71 capsid proteins.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
PLCG1P191742EBI-1564650,EBI-79387

GO - Molecular functioni

  • enzyme binding Source: BHF-UCL

Protein-protein interaction databases

BioGridi107388. 26 interactors.
IntActiQ14108. 16 interactors.
MINTiMINT-4054592.
STRINGi9606.ENSP00000264896.

Structurei

Secondary structure

1478
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi38 – 40Combined sources3
Helixi48 – 54Combined sources7
Beta strandi60 – 70Combined sources11
Helixi72 – 76Combined sources5
Beta strandi82 – 103Combined sources22
Turni104 – 107Combined sources4
Beta strandi108 – 119Combined sources12
Helixi121 – 123Combined sources3
Beta strandi124 – 126Combined sources3
Turni128 – 130Combined sources3
Beta strandi132 – 136Combined sources5
Helixi138 – 148Combined sources11
Helixi153 – 162Combined sources10
Beta strandi167 – 172Combined sources6
Helixi173 – 178Combined sources6
Helixi183 – 191Combined sources9
Beta strandi197 – 199Combined sources3
Turni201 – 204Combined sources4
Beta strandi213 – 216Combined sources4
Helixi222 – 224Combined sources3
Beta strandi227 – 231Combined sources5
Beta strandi234 – 236Combined sources3
Beta strandi239 – 242Combined sources4
Turni243 – 246Combined sources4
Beta strandi266 – 268Combined sources3
Helixi271 – 273Combined sources3
Beta strandi277 – 287Combined sources11
Beta strandi290 – 296Combined sources7
Helixi299 – 302Combined sources4
Beta strandi303 – 305Combined sources3
Helixi307 – 311Combined sources5
Turni313 – 316Combined sources4
Beta strandi323 – 325Combined sources3
Turni327 – 332Combined sources6
Beta strandi335 – 338Combined sources4
Helixi340 – 342Combined sources3
Helixi347 – 352Combined sources6
Helixi360 – 363Combined sources4
Beta strandi366 – 370Combined sources5
Turni371 – 374Combined sources4
Beta strandi375 – 389Combined sources15
Helixi396 – 398Combined sources3
Beta strandi404 – 416Combined sources13
Helixi419 – 428Combined sources10

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4F7BX-ray3.00A/B/C/D/E/F35-430[»]
4Q4BX-ray2.82A28-431[»]
4Q4FX-ray2.80A28-432[»]
4TVZX-ray3.01A/B37-430[»]
4TW0X-ray3.65A/B/C/D37-429[»]
4TW2X-ray2.89A/B37-430[»]
ProteinModelPortaliQ14108.
SMRiQ14108.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni155 – 191Important for interaction with GBAAdd BLAST37

Sequence similaritiesi

Belongs to the CD36 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3776. Eukaryota.
ENOG410XS17. LUCA.
GeneTreeiENSGT00530000062927.
HOGENOMiHOG000252951.
HOVERGENiHBG106707.
InParanoidiQ14108.
KOiK12384.
OMAiLNESVHI.
OrthoDBiEOG091G0CH9.
PhylomeDBiQ14108.
TreeFamiTF317925.

Family and domain databases

InterProiIPR002159. CD36_fam.
IPR005429. LimpII.
[Graphical view]
PANTHERiPTHR11923. PTHR11923. 1 hit.
PfamiPF01130. CD36. 1 hit.
[Graphical view]
PRINTSiPR01609. CD36FAMILY.
PR01611. LIMPII.

Sequences (2)i

Sequence statusi: Complete.

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

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q14108-1) [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
MGRCCFYTAG TLSLLLLVTS VTLLVARVFQ KAVDQSIEKK IVLRNGTEAF
60 70 80 90 100
DSWEKPPLPV YTQFYFFNVT NPEEILRGET PRVEEVGPYT YRELRNKANI
110 120 130 140 150
QFGDNGTTIS AVSNKAYVFE RDQSVGDPKI DLIRTLNIPV LTVIEWSQVH
160 170 180 190 200
FLREIIEAML KAYQQKLFVT HTVDELLWGY KDEILSLIHV FRPDISPYFG
210 220 230 240 250
LFYEKNGTND GDYVFLTGED SYLNFTKIVE WNGKTSLDWW ITDKCNMING
260 270 280 290 300
TDGDSFHPLI TKDEVLYVFP SDFCRSVYIT FSDYESVQGL PAFRYKVPAE
310 320 330 340 350
ILANTSDNAG FCIPEGNCLG SGVLNVSICK NGAPIIMSFP HFYQADERFV
360 370 380 390 400
SAIEGMHPNQ EDHETFVDIN PLTGIILKAA KRFQINIYVK KLDDFVETGD
410 420 430 440 450
IRTMVFPVMY LNESVHIDKE TASRLKSMIN TTLIITNIPY IIMALGVFFG
460 470
LVFTWLACKG QGSMDEGTAD ERAPLIRT
Length:478
Mass (Da):54,290
Last modified:January 23, 2007 - v2
Checksum:iFDCF27F3BA337B2C
GO
Isoform 2 (identifier: Q14108-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     93-235: Missing.

Note: No experimental confirmation available.
Show »
Length:335
Mass (Da):37,767
Checksum:i41D643B2B222B187
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti351S → P in BAG59150 (PubMed:14702039).Curated1

Mass spectrometryi

Molecular mass is 54158.97 Da from positions 2 - 478. Determined by MALDI. 1 Publication

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_066744363H → N in EPM4; no renal failure. 1 PublicationCorresponds to variant rs758857853dbSNPEnsembl.1
Natural variantiVAR_066745471E → G May act as a modifier of Gaucher disease. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_04482693 – 235Missing in isoform 2. 1 PublicationAdd BLAST143

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D12676 mRNA. Translation: BAA02177.1.
BT006939 mRNA. Translation: AAP35585.1.
AK296519 mRNA. Translation: BAG59150.1.
AK313016 mRNA. Translation: BAG35851.1.
AC034139 Genomic DNA. No translation available.
AC110795 Genomic DNA. No translation available.
CH471057 Genomic DNA. Translation: EAX05779.1.
BC021892 mRNA. Translation: AAH21892.1.
CCDSiCCDS3577.1. [Q14108-1]
CCDS56335.1. [Q14108-2]
PIRiA56525.
RefSeqiNP_001191184.1. NM_001204255.1. [Q14108-2]
NP_005497.1. NM_005506.3. [Q14108-1]
UniGeneiHs.349656.

Genome annotation databases

EnsembliENST00000264896; ENSP00000264896; ENSG00000138760. [Q14108-1]
ENST00000452464; ENSP00000399154; ENSG00000138760. [Q14108-2]
GeneIDi950.
KEGGihsa:950.
UCSCiuc003hju.3. human. [Q14108-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D12676 mRNA. Translation: BAA02177.1.
BT006939 mRNA. Translation: AAP35585.1.
AK296519 mRNA. Translation: BAG59150.1.
AK313016 mRNA. Translation: BAG35851.1.
AC034139 Genomic DNA. No translation available.
AC110795 Genomic DNA. No translation available.
CH471057 Genomic DNA. Translation: EAX05779.1.
BC021892 mRNA. Translation: AAH21892.1.
CCDSiCCDS3577.1. [Q14108-1]
CCDS56335.1. [Q14108-2]
PIRiA56525.
RefSeqiNP_001191184.1. NM_001204255.1. [Q14108-2]
NP_005497.1. NM_005506.3. [Q14108-1]
UniGeneiHs.349656.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4F7BX-ray3.00A/B/C/D/E/F35-430[»]
4Q4BX-ray2.82A28-431[»]
4Q4FX-ray2.80A28-432[»]
4TVZX-ray3.01A/B37-430[»]
4TW0X-ray3.65A/B/C/D37-429[»]
4TW2X-ray2.89A/B37-430[»]
ProteinModelPortaliQ14108.
SMRiQ14108.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107388. 26 interactors.
IntActiQ14108. 16 interactors.
MINTiMINT-4054592.
STRINGi9606.ENSP00000264896.

PTM databases

iPTMnetiQ14108.
PhosphoSitePlusiQ14108.
SwissPalmiQ14108.

Polymorphism and mutation databases

BioMutaiSCARB2.
DMDMi2498525.

Proteomic databases

EPDiQ14108.
PaxDbiQ14108.
PeptideAtlasiQ14108.
PRIDEiQ14108.

Protocols and materials databases

DNASUi950.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000264896; ENSP00000264896; ENSG00000138760. [Q14108-1]
ENST00000452464; ENSP00000399154; ENSG00000138760. [Q14108-2]
GeneIDi950.
KEGGihsa:950.
UCSCiuc003hju.3. human. [Q14108-1]

Organism-specific databases

CTDi950.
DisGeNETi950.
GeneCardsiSCARB2.
HGNCiHGNC:1665. SCARB2.
HPAiCAB015415.
HPA018014.
MalaCardsiSCARB2.
MIMi254900. phenotype.
602257. gene.
neXtProtiNX_Q14108.
OpenTargetsiENSG00000138760.
Orphaneti163696. Action myoclonus - renal failure syndrome.
77259. Gaucher disease type 1.
308. Unverricht-Lundborg disease.
PharmGKBiPA35038.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3776. Eukaryota.
ENOG410XS17. LUCA.
GeneTreeiENSGT00530000062927.
HOGENOMiHOG000252951.
HOVERGENiHBG106707.
InParanoidiQ14108.
KOiK12384.
OMAiLNESVHI.
OrthoDBiEOG091G0CH9.
PhylomeDBiQ14108.
TreeFamiTF317925.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000138760-MONOMER.
ReactomeiR-HSA-8856825. Cargo recognition for clathrin-mediated endocytosis.
R-HSA-8856828. Clathrin-mediated endocytosis.

Miscellaneous databases

ChiTaRSiSCARB2. human.
GeneWikiiSCARB2.
GenomeRNAii950.
PROiQ14108.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000138760.
CleanExiHS_SCARB2.
ExpressionAtlasiQ14108. baseline and differential.
GenevisibleiQ14108. HS.

Family and domain databases

InterProiIPR002159. CD36_fam.
IPR005429. LimpII.
[Graphical view]
PANTHERiPTHR11923. PTHR11923. 1 hit.
PfamiPF01130. CD36. 1 hit.
[Graphical view]
PRINTSiPR01609. CD36FAMILY.
PR01611. LIMPII.
ProtoNetiSearch...

Entry informationi

Entry nameiSCRB2_HUMAN
AccessioniPrimary (citable) accession number: Q14108
Secondary accession number(s): B4DKD8, E7EM68, Q53Y63
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: January 23, 2007
Last modified: November 2, 2016
This is version 161 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, Reference proteome

Documents

  1. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. 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.