Free for academic non-profit institutions. Other users need a Commercial license

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
  • 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
  • Scavenger Receptor Class B, Member 2 2
  • Lysosome Membrane Protein 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 Vesicle-mediated transport and Primary Focal Segmental Glomerulosclerosis FSGS. 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04F075989 0.2 ENCODE 18.6 +223.3 223342 2.1 ARNT CREB3L1 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 CBX5 ZNF143 SDAD1 NAAA THAP6 SCARB2 CDKL2 ART3 LOC101928809
GH04F076233 1.4 Ensembl ENCODE 14.7 -22.0 -22020 5.5 HDGF PKNOX1 MLX ARNT CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 FAM47E SCARB2 ENSG00000251185 STBD1 LOC105377286
GH04F076299 1.4 FANTOM5 Ensembl ENCODE 11.7 -87.4 -87402 4.2 PKNOX1 ATF1 ARNT CREB3L1 ZNF2 YY1 GATA2 CBX5 FOS JUNB STBD1 FAM47E SCARB2 CCDC158 FAM47E-STBD1
GH04F076303 0.2 Ensembl 11.7 -89.8 -89802 0.2 FAM47E SCARB2 STBD1 FAM47E-STBD1
GH04F076304 0.5 ENCODE 11.7 -93.1 -93084 4.4 MLX ARID4B SIN3A DMAP1 ZNF48 ZNF2 YY1 GLIS2 KLF7 ZNF263 CCDC158 STBD1 FAM47E SCARB2 RNU6-1000P NUP54 GC04M076318
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

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
ENSR00001243256 1399 3801 ATF1 PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 ZNF48 ZNF2 YY1 ZNF143

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

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.

Gene Ontology (GO) - Molecular Function for SCARB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001618 virus receptor activity IEA --
GO:0004872 receptor activity IEA --
GO:0005515 protein binding IPI 14570588
GO:0019899 enzyme binding IPI 18022370
genes like me logo Genes that share ontologies with SCARB2: view
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

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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:0005764 lysosome IEA --
GO:0005765 lysosomal membrane ISS,TAS 12356916
GO:0005925 focal adhesion IDA 21423176
GO:0016020 membrane IEA,IDA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SCARB2: view

Pathways & Interactions for SCARB2 Gene

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

Pathways by source for SCARB2 Gene

Gene Ontology (GO) - Biological Process for SCARB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006622 protein targeting to lysosome IMP 18022370
GO:0010976 positive regulation of neuron projection development IEA --
GO:0016032 viral process IEA --
GO:0046718 viral entry into host cell IEA --
GO:1904978 regulation of endosome organization TAS 12356916
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:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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, MaxQB, and MOPED for SCARB2 Gene



Protein tissue co-expression partners for SCARB2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SCARB2 Gene:

SCARB2

SOURCE GeneReport for Unigene cluster for SCARB2 Gene:

Hs.349656
genes like me logo Genes that share expression patterns with SCARB2: view

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
chimpanzee
(Pan troglodytes)
Mammalia SCARB2 34 35
  • 99.51 (n)
dog
(Canis familiaris)
Mammalia SCARB2 34 35
  • 89.4 (n)
cow
(Bos Taurus)
Mammalia SCARB2 34 35
  • 89.05 (n)
rat
(Rattus norvegicus)
Mammalia Scarb2 34
  • 84.73 (n)
mouse
(Mus musculus)
Mammalia Scarb2 34 16 35
  • 84.52 (n)
oppossum
(Monodelphis domestica)
Mammalia SCARB2 35
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SCARB2 35
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves SCARB2 34 35
  • 65.9 (n)
lizard
(Anolis carolinensis)
Reptilia SCARB2 35
  • 53 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia scarb2 34
  • 61.32 (n)
Str.13862 34
African clawed frog
(Xenopus laevis)
Amphibia cd36l2-prov 34
zebrafish
(Danio rerio)
Actinopterygii scarb2 34
  • 56.3 (n)
SCARB2 35
  • 49 (a)
OneToOne
cd36l2 34
fruit fly
(Drosophila melanogaster)
Insecta emp 34
  • 47.36 (n)
Snmp2 35
  • 24 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta SCRB9 34
  • 46.75 (n)
worm
(Caenorhabditis elegans)
Secernentea scav-1 35
  • 23 (a)
ManyToMany
scav-2 35
  • 23 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 35 (a)
OneToOne
Species where no ortholog for SCARB2 was found in the sources mined by GeneCards:
  • 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
rs758857853 Epilepsy, progressive myoclonic 4, with or without renal failure (EPM4) [MIM:254900] 76,169,893(+) CTCAT(G/T)GTCTT reference, missense
rs121909118 Pathogenic 76,174,276(-) GTGTA(C/T)AGGGA reference, stop-gained
rs121909119 Pathogenic 76,179,596(-) GCTCT(A/G)GGGCT intron-variant, reference, stop-gained
rs200053119 Pathogenic 76,181,016(+) GTCTC(A/G)TTCAA intron-variant, reference, stop-gained
rs727502772 Pathogenic 76,166,249(-) ATGAG(G/T)TAAGT splice-donor-variant

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

Variant ID Type Subtype PubMed ID
dgv9136n54 CNV gain 21841781
dgv958e199 CNV deletion 23128226
esv3601046 CNV loss 21293372
esv3601047 CNV loss 21293372
esv3601048 CNV loss 21293372
esv995458 CNV deletion 20482838
nsv1000178 CNV gain 25217958
nsv461558 CNV gain 19166990
nsv470047 CNV gain 18288195
nsv7363 OTHER inversion 18451855
nsv818244 CNV loss 17921354

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

Human Gene Mutation Database (HGMD)
SCARB2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SCARB2

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

Disorders for SCARB2 Gene

MalaCards: The human disease database

(12) 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
  • epilepsy, progressive myoclonic, 4, with or without renal failure
unverricht-lundborg syndrome
  • unverricht - lundborg disease
hand, foot and mouth disease
  • vesicular stomatitis and exanthem
gaucher disease, type i
  • gaucher's disease
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 22 64
  2. Scavenger receptor B2 is a cellular receptor for enterovirus 71. (PMID: 19543282) Yamayoshi S. … Koike S. (Nat. Med. 2009) 3 4 22 64
  3. The CD36, CLA-1 (CD36L1), and LIMPII (CD36L2) gene family: cellular distribution, chromosomal location, and genetic evolution. (PMID: 7539776) Calvo D. … Vega M.A. (Genomics 1995) 3 4 22 64
  4. 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. (PMID: 7509809) Sandoval I.V. … Rico M. (J. Biol. Chem. 1994) 3 4 22 64
  5. Structure of LIMP-2 provides functional insights with implications for SR-BI and CD36. (PMID: 24162852) Neculai D. … Dhe-Paganon S. (Nature 2013) 3 4 64

Products for SCARB2 Gene

Sources for SCARB2 Gene

Content
Loading form....