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Aliases for SCARB2 Gene

Aliases for SCARB2 Gene

  • Scavenger Receptor Class B, Member 2 2 3
  • CD36L2 3 4 6
  • LIMPII 3 4 6
  • 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
  • LGP85 3 4
  • AMRF 3 6
  • EPM4 3 6
  • 85 KDa Lysosomal Sialoglycoprotein Scavenger Receptor Class B, Member 2 3
  • Scavenger Receptor Class B Member 2 4
  • Lysosome Membrane Protein 2 3
  • CD36 Antigen 4
  • HLGP85 3
  • LIMP-2 3
  • SR-BII 3
  • LIMP2 4

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 gaucher disease, type i. 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.

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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for SCARB2 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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.

    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 Asn45, Asn68, Asn105, Asn206, Asn224, Asn249, Asn304, Asn325, Asn412, and Asn430
  • 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 for SCARB2 Gene

Suggested Antigen Peptide Sequences for SCARB2 Gene

Graphical View of Domain Structure for InterPro Entry

Q14108

UniProtKB/Swiss-Prot:

SCRB2_HUMAN :
  • Q14108
Family:
  • Belongs to the CD36 family.
genes like me logo Genes that share domains with SCARB2: view

No data available for Gene Families for SCARB2 Gene

Function for SCARB2 Gene

Molecular function for SCARB2 Gene

UniProtKB/Swiss-Prot Function: Acts as a lysosomal receptor for glucosylceramidase (GBA) targeting.

Gene Ontology (GO) - Molecular Function for SCARB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
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

Animal Models for SCARB2 Gene

MGI Knock Outs for SCARB2:

Animal Model Products

CRISPR Products

miRNA for SCARB2 Gene

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SCARB2

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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
lysosome 5
vacuole 5
plasma membrane 4
extracellular 3
cytoskeleton 2
endoplasmic reticulum 2
endosome 2
mitochondrion 2
nucleus 2
peroxisome 2
cytosol 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SCARB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome --
GO:0005765 lysosomal membrane ISS 18022370
GO:0005925 focal adhesion IDA 21423176
GO:0016020 membrane IDA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SCARB2: view

Pathways 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:0006622 protein targeting to lysosome IMP 18022370
GO:0007155 cell adhesion IEA --
genes like me logo Genes that share ontologies with SCARB2: view

Compounds for SCARB2 Gene

(9) Novoseek inferred chemical compound relationships for SCARB2 Gene

Compound -log(P) Hits PubMed IDs
u18666a 67.3 1
phosphoramidon 57.6 1
leucine 31.7 3
cholesterol 30.8 10
zinc 17.9 2
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:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SCARB2

Primer 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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression 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 expressions with SCARB2: view

In Situ Assay Products

No data available for 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 35
  • 99.51 (n)
  • 99.58 (a)
SCARB2 36
  • 100 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia SCARB2 36
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SCARB2 36
  • 70 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Scarb2 35
  • 84.73 (n)
  • 85.98 (a)
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
African clawed frog
(Xenopus laevis)
Amphibia cd36l2-prov 35
tropical clawed frog
(Silurana tropicalis)
Amphibia scarb2 35
  • 61.32 (n)
  • 55.68 (a)
Str.13862 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

Selected 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 MAF
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
rs894246 -- 76,158,349(+) ATAAA(G/T)AAACA downstream-variant-500B
rs894247 -- 76,179,290(+) CTCAA(A/G)TGATC intron-variant

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

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

(1) OMIM Diseases for SCARB2 Gene (602257)

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}.

(3) University of Copenhagen DISEASES for SCARB2 Gene

(2) Novoseek inferred disease relationships for SCARB2 Gene

Disease -log(P) Hits PubMed IDs
necrosis 0 3
tumors 0 4

Relevant External Links for SCARB2

Genetic Association Database (GAD)
SCARB2
Human Genome Epidemiology (HuGE) Navigator
SCARB2
genes like me logo Genes that share disorders with SCARB2: view

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
  2. 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 23
  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 23
  4. A role for the lysosomal membrane protein LGP85 in the biogenesis and maintenance of endosomal and lysosomal morphology. (PMID: 12356916) Kuronita T. … Tanaka Y. (J. Cell. Sci. 2002) 3 23
  5. Structural requirements for interactions between leucine-sorting signals and clathrin-associated adaptor protein complex AP3. (PMID: 12370188) Rodionov D.G. … Bakke O. (J. Biol. Chem. 2002) 3 23

Products for SCARB2 Gene

Sources for SCARB2 Gene

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