Property Summary

NCBI Gene PubMed Count 74
PubMed Score 226.39
PubTator Score 115.28

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Expression

  Differential Expression (24)

Disease log2 FC p
malignant mesothelioma -2.500 1.5e-06
astrocytic glioma 1.500 2.4e-02
ependymoma 1.500 1.8e-02
oligodendroglioma 2.400 1.4e-03
psoriasis -2.100 3.2e-04
osteosarcoma 2.183 6.0e-04
group 4 medulloblastoma 2.900 1.4e-05
atypical teratoid / rhabdoid tumor 1.500 8.8e-04
glioblastoma 2.100 1.2e-04
medulloblastoma, large-cell 3.000 4.2e-06
primitive neuroectodermal tumor 1.100 4.5e-04
hereditary spastic paraplegia -1.399 3.6e-03
acute quadriplegic myopathy 1.820 5.3e-05
juvenile dermatomyositis 1.046 1.0e-09
pediatric high grade glioma 1.500 2.0e-03
pilocytic astrocytoma 1.600 1.0e-04
aldosterone-producing adenoma -1.563 4.9e-02
lung adenocarcinoma 1.487 2.1e-04
Polycystic Ovary Syndrome -1.191 1.3e-02
Pick disease -1.300 4.9e-03
progressive supranuclear palsy -1.600 1.4e-02
ovarian cancer -3.100 2.6e-11
Gaucher disease type 1 -1.200 3.6e-02
Down syndrome 2.200 5.9e-04

 GWAS Trait (1)

Gene RIF (51)

PMID Text
26936883 hSR-BII, and to a lesser extent hSR-BI, significantly increase LPS-induced inflammation and contribute to LPS-induced tissue injury in the liver and kidney, two major organs susceptible to LPS toxicity.
26304790 LIMPII was increased greater than twofold in urinary microvesicles obtained from patients with idiopathic membranous nephropathy compared to microvesicles of patients with idiopathic focal segmental glomerulosclerosis and normal controls.
26224037 Findings suggested that STX1B rs4889603, FAM47E rs6812193 and SCARB2 rs6825004 do not confer a significant risk for Parkinson's disease
26018676 Although hrGCase cellular uptake is independent of LIMP-2, its trafficking to the lysosomes is mediated by this receptor.
25862818 SCARB2 regulates TLR9-dependent IFN-I production of plasmacytoid dendritic cells
25576872 Disease-causing cathepsin-F mutants fail to cleave LIMP-2. Our findings provide evidence that LIMP-2 represents an in vivo substrate of cathepsin-F with relevance for understanding the pathophysiology of type-B-Kufs-disease.
25316793 In LIMP-2-deficient brains a significant reduction in GC activity led to lipid storage, disturbed autophagic/lysosomal function, and alpha-synuclein accumulation.
25202012 The LIMP-2/SCARB2 binding sequences for enterovirus 71 and GCase are not similar, indicating that LIMP-2/SCARB2 may have multiple or overlapping binding sites with differing specificities.
24997419 SCARB2 and PSGL-1 in human gastrointestinal tract, lung, and brain tissues correlated with the distribution of pathological changes seen in EV71 infection.
24986489 Data indicate that scavenger receptor SCARB2 triggers uncoating of human enterovirus 71 (EV71) under low pH conditions.
24973356 SNCA and SCARB2 loci are also associated with dementia with Lewy bodies, after a study-wise Bonferroni correction, although these have a different association profile than the associations reported for the same loci in Parkinson's.
24620919 a novel mutation in SCARB2 as a cause of progressive myoclonus epilepsy in China
24485911 A novel SCARB2 mutation was indicated by reduced Beta-glucocerebrosidase activity in progressive myoclonus epilepsy.
24389070 Mutations in LIMP-2, the specific receptor for glucocerebrosidase that is missing in Gaucher disease patients, substantially contribute to the pathology and heterogeneity of the disease. (Review)
23959904 Results suggest that this hSCARB2 transgenic mouse could represent a useful animal model for the study of enterovirus 71 (EV71) infection.
23874603 A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies downregulation of scavenger receptor class B, member 2 (SCARB2) expression by HIV-1 Vpr in Vpr transduced macrophages
23473716 SCARB2 is implicated in the lysosomal pathway recently associated with Parkinson disease (PD) pathogenesis. The rs6812193 polymorphism doesn't increase susceptibility to PD in the Greek population.
23451246 Human SCARB2-transgenic mice are a useful model for assessing anti-EV71 medications.
23408458 identified no novel exonic variants in SCARB2 but confirmed the association between SNP rs6812193 and Parkinson's disease.
23325613 study of two Japanese siblings with late-onset progressive myoclonus epilepsy without renal failure having a novel homozygous SCARB2 mutation
23302872 These results indicated that SCARB2 is capable of viral binding, viral internalization, and viral uncoating and that the low infection efficiency of L-PSGL1 cells is due to the inability of PSGL1 to induce viral uncoating.
22884962 Lysosomal storage disorders are associated with deficiencies of alternative lysosomal receptors LIMPII and sortilin and/or of their cargos. (Review)
22537104 H171 residue in LIMP-2 is necessary for LIMP-2 and beta-glucocerebrosidase binding
22465138 Our data do not support the association of SNP rs6812193 with PD in Han Chinese of mainland China.
22438546 Coxsackievirus A infection is via celluar virus receptor SCARB2.
22272359 Results show that EV71 binds to SCARB2 and triggers a clathrin- and dynamin-dependent endocytosis for its entry.
22223122 This study supported a genetic contribution of the SCARB2 locus to PD; future studies in larger cohorts are necessary to verify this finding.
22219187 The residues between 144 and 151 are critical for SCARB2 binding to VP1 of EV71 and seven residues from the human receptor could convert murine SCARB2, an otherwise inefficient receptor, to an efficient receptor for EV71 viral infection.
22050460 This study demonistrated that patients with SCARB2 mutations showed the clinical and neurophysiologic phenotype of progressive myoclonus epilepsy , extending the spectrum reported in the typical action myoclonus renal failure syndrome.
22032306 in rare cases heterozygous SCARB2 mutations may be associated with demyelinating polyneuropathy features.
21985131 We showed that just four genes, G3BP2, SCARB2, CSNK1A1 and SPRR2B, can classify patients as presence of lymph node metastasis negative or positive, with 80.0% accuracy.
21796727 Sequencing of SCARB2 genomic and cDNA identified a heterozygous, maternally inherited novel mutation (SCARB2 )
21782476 Two sisters are described with action myoclonus-renal failure (AMRF) syndrome resulting from a mutation in the SCARB2 gene.
21389126 L929 cells expressing chimeras that carried amino acids 142 to 204 from the human sequence were susceptible to enterovirus 71, while chimeras that carried the mouse sequence in this region were not.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20602615 Observational study of gene-disease association. (HuGE Navigator)
20237496 Observational study of gene-disease association. (HuGE Navigator)
20032583 smooth muscle cells and macrophages expressing scavenger receptor BI/II in different stages of atherosclerosis
19933215 Action Myoclonus-Renal Failure Syndrome-causing mutations within LIMP-2 affect the binding to beta-glucocerebrosidase.
19913121 Observational study of gene-disease association. (HuGE Navigator)
19847901 Study of SCARB2 mutations finds unsolved cases of progressive myoclonus epilepsy without renal impairment, especially those resembling Unverricht-Lundborg disease.
19543282 Scavenger receptor B2 is a cellular receptor for enterovirus 71.
18996102 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
18308289 SCARB2/Limp2 has pleiotropic effects that may be relevant to understanding the pathogenesis of other forms of glomerulosclerosis or collapse and myoclonic epilepsies.
17673517 Regulation of alternative splicing of liver scavenger receptor class B gene by estrogen.
17215280 HCV soluble E2 can interact with human SR-BI and SR-BII
17110915 Scavenger receptors SR-BI and SR-BII localized mainly to the ganglion cell layer and photoreceptor outer segments; in the latter they appear to be associated with microtubules.
16542748 Residues favoring AP3 binding introduced into a protein that is transported via the PM such as the invariant chain can re-route such protein into direct sorting to late endosomal/lysosomal structures.
16368683 High density lipoprotein endocytosis by scavenger receptor SR-BII is clathrin-dependent and requires a carboxyl-terminal dileucine motif.
14570588 Several putative signalling motifs identified in the C-terminus of human SR-BII, which are absent from SR-BI, interact with signalling molecules to mobilize stored cholesteryl esters and/or promote the efflux of intracellular free cholesterol.
12620969 Functional analysis of the mouse homolog

AA Sequence

MGRCCFYTAGTLSLLLLVTSVTLLVARVFQKAVDQSIEKKIVLRNGTEAFDSWEKPPLPVYTQFYFFNVT      1 - 70
NPEEILRGETPRVEEVGPYTYRELRNKANIQFGDNGTTISAVSNKAYVFERDQSVGDPKIDLIRTLNIPV     71 - 140
LTVIEWSQVHFLREIIEAMLKAYQQKLFVTHTVDELLWGYKDEILSLIHVFRPDISPYFGLFYEKNGTND    141 - 210
GDYVFLTGEDSYLNFTKIVEWNGKTSLDWWITDKCNMINGTDGDSFHPLITKDEVLYVFPSDFCRSVYIT    211 - 280
FSDYESVQGLPAFRYKVPAEILANTSDNAGFCIPEGNCLGSGVLNVSICKNGAPIIMSFPHFYQADERFV    281 - 350
SAIEGMHPNQEDHETFVDINPLTGIILKAAKRFQINIYVKKLDDFVETGDIRTMVFPVMYLNESVHIDKE    351 - 420
TASRLKSMINTTLIITNIPYIIMALGVFFGLVFTWLACKGQGSMDEGTADERAPLIRT                421 - 478
//

Text Mined References (81)

PMID Year Title
26936883 2016 Human SR-BI and SR-BII Potentiate Lipopolysaccharide-Induced Inflammation and Acute Liver and Kidney Injury in Mice.
26304790 2015 Increased expression of lysosome membrane protein 2 in glomeruli of patients with idiopathic membranous nephropathy.
26224037 2015 No association of FAM47E rs6812193, SCARB2 rs6825004 and STX1B rs4889603 polymorphisms with Parkinson's disease in a Chinese Han population.
26018676 2015 Role of LIMP-2 in the intracellular trafficking of ?-glucosidase in different human cellular models.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25862818 2015 SCARB2/LIMP-2 Regulates IFN Production of Plasmacytoid Dendritic Cells by Mediating Endosomal Translocation of TLR9 and Nuclear Translocation of IRF7.
25576872 2015 Lysosomal integral membrane protein type-2 (LIMP-2/SCARB2) is a substrate of cathepsin-F, a cysteine protease mutated in type-B-Kufs-disease.
25316793 2014 LIMP-2 expression is critical for ?-glucocerebrosidase activity and ?-synuclein clearance.
25202012 2014 The LIMP-2/SCARB2 binding motif on acid ?-glucosidase: basic and applied implications for Gaucher disease and associated neurodegenerative diseases.
25064009 2014 Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.
24997419 2014 Distribution of EV71 receptors SCARB2 and PSGL-1 in human tissues.
24986489 2014 Molecular mechanism of SCARB2-mediated attachment and uncoating of EV71.
24973356 2014 Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies.
24620919 2014 Using a combination of whole-exome sequencing and homozygosity mapping to identify a novel mutation of SCARB2.
24485911 2014 A novel SCARB2 mutation in progressive myoclonus epilepsy indicated by reduced ?-glucocerebrosidase activity.
24389070 2014 Lysosomal integral membrane protein-2: a new player in lysosome-related pathology.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24162852 2013 Structure of LIMP-2 provides functional insights with implications for SR-BI and CD36.
23959904 2013 Transgenic mouse model for the study of enterovirus 71 neuropathogenesis.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
23473716 2013 Association study of rs6812193 polymorphism with Parkinson's disease in a Greek population.
23451246 2013 Human SCARB2 transgenic mice as an infectious animal model for enterovirus 71.
23408458 2013 The role of SCARB2 as susceptibility factor in Parkinson's disease.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23325613 2013 A novel SCARB2 mutation causing late-onset progressive myoclonus epilepsy.
23302872 2013 Functional comparison of SCARB2 and PSGL1 as receptors for enterovirus 71.
22884962 2012 A shortcut to the lysosome: the mannose-6-phosphate-independent pathway.
22537104 2012 A critical histidine residue within LIMP-2 mediates pH sensitive binding to its ligand ?-glucocerebrosidase.
22465138 2012 Association study of SCARB2 rs6812193 polymorphism with Parkinson's disease in Han Chinese.
22438546 2012 Human SCARB2-dependent infection by coxsackievirus A7, A14, and A16 and enterovirus 71.
22272359 2012 Human SCARB2-mediated entry and endocytosis of EV71.
22223122 2012 Evidence of an association between the scavenger receptor class B member 2 gene and Parkinson's disease.
22219187 2012 Molecular determinants of enterovirus 71 viral entry: cleft around GLN-172 on VP1 protein interacts with variable region on scavenge receptor B 2.
22050460 2011 Clinical and neurophysiologic features of progressive myoclonus epilepsy without renal failure caused by SCARB2 mutations.
22032306 2011 Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2 mutations in isolated AMRF features.
21985131 2012 Four-gene expression model predictive of lymph node metastases in oral squamous cell carcinoma.
21796727 2011 A mutation in SCARB2 is a modifier in Gaucher disease.
21782476 2011 Progressive myoclonus epilepsy with nephropathy C1q due to SCARB2/LIMP-2 deficiency: clinical report of two siblings.
21738487 2011 Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease.
21670406 2011 Mutation of SCARB2 in a patient with progressive myoclonus epilepsy and demyelinating peripheral neuropathy.
21423176 2011 Analysis of the myosin-II-responsive focal adhesion proteome reveals a role for ?-Pix in negative regulation of focal adhesion maturation.
21389126 2011 Identification of a human SCARB2 region that is important for enterovirus 71 binding and infection.
21269460 2011 Initial characterization of the human central proteome.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20602615 2010 Physiogenomic analysis of statin-treated patients: domain-specific counter effects within the ACACB gene on low-density lipoprotein cholesterol?
20237496 2010 New genetic associations detected in a host response study to hepatitis B vaccine.
20032583 2009 Distribution of smooth muscle cells and macrophages expressing scavenger receptor BI/II in atherosclerosis.
19946888 2010 Defining the membrane proteome of NK cells.
19933215 2010 Disease-causing mutations within the lysosomal integral membrane protein type 2 (LIMP-2) reveal the nature of binding to its ligand beta-glucocerebrosidase.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19847901 2009 SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure.
19543282 2009 Scavenger receptor B2 is a cellular receptor for enterovirus 71.
19454373 2009 Biochemical and molecular findings in a patient with myoclonic epilepsy due to a mistarget of the beta-glucosidase enzyme.
19159218 2009 Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.
19056867 2009 Large-scale proteomics and phosphoproteomics of urinary exosomes.
18996102 2009 Physiogenomic comparison of edema and BMI in patients receiving rosiglitazone or pioglitazone.
18424452 2008 A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome.
18308289 2008 Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis.
18022370 2007 LIMP-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of beta-glucocerebrosidase.
17897319 2007 Integral and associated lysosomal membrane proteins.
17673517 2007 Regulation of alternative splicing of liver scavenger receptor class B gene by estrogen and the involved regulatory splicing factors.
17215280 2007 Scavenger receptor BI and BII expression levels modulate hepatitis C virus infectivity.
17110915 2006 Intraretinal lipid transport is dependent on high density lipoprotein-like particles and class B scavenger receptors.
16542748 2006 Re-routing of the invariant chain to the direct sorting pathway by introduction of an AP3-binding motif from LIMP II.
16368683 2006 High density lipoprotein endocytosis by scavenger receptor SR-BII is clathrin-dependent and requires a carboxyl-terminal dileucine motif.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14570588 2004 Human scavenger receptor class B type II (SR-BII) and cellular cholesterol efflux.
12754519 2003 Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry.
12628346 2003 At the acidic edge: emerging functions for lysosomal membrane proteins.
12620969 2003 LIMP-2/LGP85 deficiency causes ureteric pelvic junction obstruction, deafness and peripheral neuropathy in mice.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12370188 2002 Structural requirements for interactions between leucine-sorting signals and clathrin-associated adaptor protein complex AP3.
12356916 2002 A role for the lysosomal membrane protein LGP85 in the biogenesis and maintenance of endosomal and lysosomal morphology.
12107410 2002 Expressed sequence tag analysis of human RPE/choroid for the NEIBank Project: over 6000 non-redundant transcripts, novel genes and splice variants.
11840567 2002 Cluster analysis of an extensive human breast cancer cell line protein expression map database.
9478926 1998 Lysosomal integral membrane protein II binds thrombospondin-1. Structure-function homology with the cell adhesion molecule CD36 defines a conserved recognition motif.
7539776 1995 The CD36, CLA-1 (CD36L1), and LIMPII (CD36L2) gene family: cellular distribution, chromosomal location, and genetic evolution.
7509809 1994 The residues Leu(Ile)475-Ile(Leu, Val, Ala)476, contained in the extended carboxyl cytoplasmic tail, are critical for targeting of the resident lysosomal membrane protein LIMP II to lysosomes.
1374238 1992 Isolation and sequencing of a cDNA clone encoding the 85 kDa human lysosomal sialoglycoprotein (hLGP85) in human metastatic pancreas islet tumor cells.