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Aliases for SCARB2 Gene

Aliases for SCARB2 Gene

  • Scavenger Receptor Class B Member 2 2 3 4 5
  • CD36 Antigen (Collagen Type I Receptor, Thrombospondin Receptor)-Like 2 (Lysosomal Integral Membrane Protein II) 2 3
  • 85 KDa Lysosomal Membrane Sialoglycoprotein 3 4
  • Scavenger Receptor Class B, Member 2 2 3
  • Lysosome Membrane Protein II 3 4
  • CD36 Antigen-Like 2 3 4
  • LIMP II 3 4
  • CD36L2 3 4
  • LIMPII 3 4
  • LGP85 3 4
  • 85 KDa Lysosomal Sialoglycoprotein Scavenger Receptor Class B, Member 2 3
  • CD36 Antigen 4
  • HLGP85 3
  • LIMP-2 3
  • SR-BII 3
  • LIMP2 4
  • AMRF 3
  • EPM4 3

External Ids for SCARB2 Gene

Previous HGNC Symbols for SCARB2 Gene

  • CD36L2

Previous GeneCards Identifiers for SCARB2 Gene

  • GC04M076978
  • GC04M077272
  • GC04M077472
  • GC04M077540
  • GC04M077538
  • GC04M077437
  • GC04M077298
  • GC04M077079
  • GC04M072831

Summaries for SCARB2 Gene

Entrez Gene Summary for SCARB2 Gene

  • The protein encoded by this gene is a type III glycoprotein that is located primarily in limiting membranes of lysosomes and endosomes. Earlier studies in mice and rat suggested that this protein may participate in membrane transportation and the reorganization of endosomal/lysosomal compartment. The protein deficiency in mice was reported to impair cell membrane transport processes and cause pelvic junction obstruction, deafness, and peripheral neuropathy. Further studies in human showed that this protein is a ubiquitously expressed protein and that it is involved in the pathogenesis of HFMD (hand, foot, and mouth disease) caused by enterovirus-71 and possibly by coxsackievirus A16. Mutations in this gene caused an autosomal recessive progressive myoclonic epilepsy-4 (EPM4), also known as action myoclonus-renal failure syndrome (AMRF). Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011]

GeneCards Summary for SCARB2 Gene

SCARB2 (Scavenger Receptor Class B Member 2) is a Protein Coding gene. Diseases associated with SCARB2 include epilepsy, progressive myoclonic 4, with or without renal failure and unverricht-lundborg syndrome. Among its related pathways are Lysosome. GO annotations related to this gene include enzyme binding and receptor activity. An important paralog of this gene is CD36.

UniProtKB/Swiss-Prot for SCARB2 Gene

  • Acts as a lysosomal receptor for glucosylceramidase (GBA) targeting.

  • (Microbial infection) Acts as a receptor for enterovirus 71.

Gene Wiki entry for SCARB2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SCARB2 Gene

Genomics for SCARB2 Gene

Regulatory Elements for SCARB2 Gene

Enhancers for SCARB2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SCARB2 on UCSC Golden Path with GeneCards custom track

Promoters for SCARB2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SCARB2 on UCSC Golden Path with GeneCards custom track

Genomic Location for SCARB2 Gene

Chromosome:
4
Start:
76,158,737 bp from pter
End:
76,213,899 bp from pter
Size:
55,163 bases
Orientation:
Minus strand

Genomic View for SCARB2 Gene

Genes around SCARB2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SCARB2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SCARB2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SCARB2 Gene

Proteins for SCARB2 Gene

  • Protein details for SCARB2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14108-SCRB2_HUMAN
    Recommended name:
    Lysosome membrane protein 2
    Protein Accession:
    Q14108
    Secondary Accessions:
    • B4DKD8
    • E7EM68
    • Q53Y63

    Protein attributes for SCARB2 Gene

    Size:
    478 amino acids
    Molecular mass:
    54290 Da
    Quaternary structure:
    • Interacts with GBA.
    • (Microbial infection) Interacts with enterovirus 71 capsid proteins.

    Three dimensional structures from OCA and Proteopedia for SCARB2 Gene

    Alternative splice isoforms for SCARB2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SCARB2 Gene

Proteomics data for SCARB2 Gene at MOPED

Post-translational modifications for SCARB2 Gene

  • Glycosylation at Asn 45, Asn 68, Asn 105, Asn 206, Asn 224, Asn 249, Asn 304, Asn 325, Asn 412, and Asn 430
  • Modification sites at PhosphoSitePlus

Other Protein References for SCARB2 Gene

Antibody Products

  • R&D Systems Antibodies for SCARB2 (LIMPII/SR-B2)

No data available for DME Specific Peptides for SCARB2 Gene

Domains & Families for SCARB2 Gene

Gene Families for SCARB2 Gene

Suggested Antigen Peptide Sequences for SCARB2 Gene

Graphical View of Domain Structure for InterPro Entry

Q14108

UniProtKB/Swiss-Prot:

SCRB2_HUMAN :
  • Belongs to the CD36 family.
Family:
  • Belongs to the CD36 family.
genes like me logo Genes that share domains with SCARB2: view

Function for SCARB2 Gene

Molecular function for SCARB2 Gene

UniProtKB/Swiss-Prot Function:
Acts as a lysosomal receptor for glucosylceramidase (GBA) targeting.
UniProtKB/Swiss-Prot Function:
(Microbial infection) Acts as a receptor for enterovirus 71.
genes like me logo Genes that share phenotypes with SCARB2: view

Human Phenotype Ontology for SCARB2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SCARB2 Gene

MGI Knock Outs for SCARB2:

Animal Model Products

  • Taconic Biosciences Mouse Models for SCARB2

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for SCARB2 Gene

Localization for SCARB2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SCARB2 Gene

Lysosome membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SCARB2 Gene COMPARTMENTS Subcellular localization image for SCARB2 gene
Compartment Confidence
extracellular 5
lysosome 5
vacuole 5
cytosol 3
endoplasmic reticulum 2
endosome 2
golgi apparatus 2
plasma membrane 2

Gene Ontology (GO) - Cellular Components for SCARB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005925 focal adhesion IDA 21423176
GO:0016020 membrane IEA,IDA 19946888
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with SCARB2: view

Pathways & Interactions for SCARB2 Gene

SuperPathways for SCARB2 Gene

Superpath Contained pathways
1 Lysosome
genes like me logo Genes that share pathways with SCARB2: view

Pathways by source for SCARB2 Gene

1 KEGG pathway for SCARB2 Gene

Gene Ontology (GO) - Biological Process for SCARB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IEA --
genes like me logo Genes that share ontologies with SCARB2: view

No data available for SIGNOR curated interactions for SCARB2 Gene

Drugs & Compounds for SCARB2 Gene

(6) Drugs for SCARB2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(3) Additional Compounds for SCARB2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SCARB2: view

Transcripts for SCARB2 Gene

Unigene Clusters for SCARB2 Gene

Scavenger receptor class B, member 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SCARB2 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b · 13c
SP1: - -
SP2:
SP3: -
SP4: -

Relevant External Links for SCARB2 Gene

GeneLoc Exon Structure for
SCARB2
ECgene alternative splicing isoforms for
SCARB2

Expression for SCARB2 Gene

mRNA expression in normal human tissues for SCARB2 Gene

Protein differential expression in normal tissues from HIPED for SCARB2 Gene

This gene is overexpressed in Bone (13.4) and Nasal epithelium (9.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for SCARB2 Gene



SOURCE GeneReport for Unigene cluster for SCARB2 Gene Hs.349656

genes like me logo Genes that share expression patterns with SCARB2: view

Protein tissue co-expression partners for SCARB2 Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for SCARB2 Gene

Orthologs for SCARB2 Gene

This gene was present in the common ancestor of animals.

Orthologs for SCARB2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SCARB2 35
  • 89.05 (n)
  • 87.87 (a)
SCARB2 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SCARB2 35
  • 89.4 (n)
  • 86.4 (a)
SCARB2 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Scarb2 35
  • 84.52 (n)
  • 85.77 (a)
Scarb2 16
Scarb2 36
  • 86 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SCARB2 35
  • 99.51 (n)
  • 99.58 (a)
SCARB2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Scarb2 35
  • 84.73 (n)
  • 85.98 (a)
oppossum
(Monodelphis domestica)
Mammalia SCARB2 36
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SCARB2 36
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves SCARB2 35
  • 65.9 (n)
  • 59.62 (a)
SCARB2 36
  • 59 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SCARB2 36
  • 53 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia scarb2 35
  • 61.32 (n)
  • 55.68 (a)
Str.13862 35
African clawed frog
(Xenopus laevis)
Amphibia cd36l2-prov 35
zebrafish
(Danio rerio)
Actinopterygii cd36l2 35
scarb2 35
  • 56.3 (n)
  • 45.14 (a)
SCARB2 36
  • 49 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta SCRB9 35
  • 46.75 (n)
  • 35.19 (a)
fruit fly
(Drosophila melanogaster)
Insecta emp 35
  • 47.36 (n)
  • 37.21 (a)
Snmp2 36
  • 24 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea scav-1 36
  • 23 (a)
ManyToMany
scav-2 36
  • 23 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 35 (a)
OneToOne
Species with no ortholog for SCARB2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SCARB2 Gene

ENSEMBL:
Gene Tree for SCARB2 (if available)
TreeFam:
Gene Tree for SCARB2 (if available)

Paralogs for SCARB2 Gene

Paralogs for SCARB2 Gene

(2) SIMAP similar genes for SCARB2 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with SCARB2: view

Variants for SCARB2 Gene

Sequence variations from dbSNP and Humsavar for SCARB2 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
VAR_066744 Epilepsy, progressive myoclonic 4, with or without renal failure (EPM4)
VAR_066745 -
rs8475 -- 76,159,933(-) TCTTA(A/T)TTATG utr-variant-3-prime
rs12533 -- 76,161,682(-) CTGTG(G/T)GAGCT utr-variant-3-prime
rs12534 -- 76,161,632(-) CCNTG(C/T)AGGCT utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for SCARB2 Gene

Variant ID Type Subtype PubMed ID
nsv7363 OTHER Inversion 18451855
nsv470047 CNV Gain 18288195
nsv461558 CNV Gain 19166990
esv995458 CNV Deletion 20482838
nsv818244 CNV Loss 17921354
dgv958e199 CNV Deletion 23128226

Variation tolerance for SCARB2 Gene

Residual Variation Intolerance Score: 85.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.25; 40.38% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SCARB2 Gene

HapMap Linkage Disequilibrium report
SCARB2
Human Gene Mutation Database (HGMD)
SCARB2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SCARB2 Gene

Disorders for SCARB2 Gene

MalaCards: The human disease database

(13) MalaCards diseases for SCARB2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
epilepsy, progressive myoclonic 4, with or without renal failure
  • action myoclonus - renal failure syndrome
unverricht-lundborg syndrome
  • unverricht - lundborg disease
hand, foot and mouth disease
  • vesicular stomatitis and exanthem
gaucher's disease
  • lipoid histiocytosis
myoclonus
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SCRB2_HUMAN
  • Epilepsy, progressive myoclonic 4, with or without renal failure (EPM4) [MIM:254900]: An 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. {ECO:0000269 PubMed:18308289, ECO:0000269 PubMed:18424452, ECO:0000269 PubMed:19454373, ECO:0000269 PubMed:21670406}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Genetic variants in SCARB2 can act as modifier of the phenotypic expression and severity of Gaucher disease. {ECO:0000269 PubMed:21796727}.

Relevant External Links for SCARB2

Genetic Association Database (GAD)
SCARB2
Human Genome Epidemiology (HuGE) Navigator
SCARB2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SCARB2
genes like me logo Genes that share disorders with SCARB2: view

No data available for Genatlas for SCARB2 Gene

Publications for SCARB2 Gene

  1. Isolation and sequencing of a cDNA clone encoding the 85 kDa human lysosomal sialoglycoprotein (hLGP85) in human metastatic pancreas islet tumor cells. (PMID: 1374238) Fujita H. … Kato K. (Biochem. Biophys. Res. Commun. 1992) 2 3 4 23 67
  2. Scavenger receptor B2 is a cellular receptor for enterovirus 71. (PMID: 19543282) Yamayoshi S. … Koike S. (Nat. Med. 2009) 3 23
  3. Scavenger receptor BI and BII expression levels modulate hepatitis C virus infectivity. (PMID: 17215280) Grove J. … McKeating J.A. (J. Virol. 2007) 3 23
  4. High density lipoprotein endocytosis by scavenger receptor SR-BII is clathrin-dependent and requires a carboxyl-terminal dileucine motif. (PMID: 16368683) Eckhardt E.R. … Van der Westhuyzen D.R. (J. Biol. Chem. 2006) 3 23
  5. Intraretinal lipid transport is dependent on high density lipoprotein-like particles and class B scavenger receptors. (PMID: 17110915) Tserentsoodol N. … Rodriguez I.R. (Mol. Vis. 2006) 3 23

Products for SCARB2 Gene

Sources for SCARB2 Gene

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