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 proc... See more...

Aliases for SCARB2 Gene

Aliases for SCARB2 Gene

  • Scavenger Receptor Class B Member 2 2 3 4 5
  • Lysosome Membrane Protein 2 2 3 4
  • 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
  • Lysosomal Integral Membrane Protein II 2
  • 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. Gene Ontology (GO) annotations related to this gene include enzyme binding. An important paralog of this gene is SCARB1.

UniProtKB/Swiss-Prot Summary for SCARB2 Gene

Gene Wiki entry for SCARB2 Gene

Additional gene information for SCARB2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SCARB2 Gene

Genomics for SCARB2 Gene

GeneHancer (GH) Regulatory Elements for SCARB2 Gene

Promoters and enhancers for SCARB2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SCARB2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SCARB2

Top Transcription factor binding sites by QIAGEN in the SCARB2 gene promoter:
  • AP-1
  • AP-2alpha
  • AP-2alpha isoform 2
  • AP-2alpha isoform 3
  • AP-2alpha isoform 4
  • ATF-2
  • c-Jun
  • NF-1
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for SCARB2 Gene

Genomic Locations for SCARB2 Gene
chr4:76,158,737-76,234,536
(GRCh38/hg38)
Size:
75,800 bases
Orientation:
Minus strand
chr4:77,079,890-77,135,052
(GRCh37/hg19)
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 Asn45, Asn68, Asn105, Asn249, Asn304, Asn325, Asn206, Asn224, Asn412, and Asn430
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • SCRB2_HUMAN (1479)

No data available for DME Specific Peptides for SCARB2 Gene

Domains & Families for SCARB2 Gene

Gene Families for SCARB2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins

Protein Domains for SCARB2 Gene

Blocks:
  • Adhesion molecule CD36 family signature
  • Lysosome membrane protein II (LIMP II) signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SCARB2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ93482, Homo sapiens scavenger receptor class B, member 2 (SCARB2), mRNA (Q53Y63_HUMAN)
  • Scavenger receptor class B member 2 (SCRB2_HUMAN)

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.

Phenotypes From GWAS Catalog for SCARB2 Gene

Gene Ontology (GO) - Molecular Function for SCARB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001618 virus receptor activity IEA --
GO:0001786 phosphatidylserine binding ISS 29199275
GO:0004888 transmembrane signaling receptor activity TAS 25202012
GO:0005044 scavenger receptor activity IEA,TAS 25202012
GO:0005515 protein binding IPI 24162852
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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SCARB2

Clone 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SCARB2 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 4
endosome 4
lysosome 4
golgi apparatus 4
cytosol 3
extracellular 2
cytoskeleton 2
mitochondrion 2
nucleus 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SCARB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS 25202012
GO:0005764 lysosome IEA --
GO:0005765 lysosomal membrane TAS 12356916
GO:0005789 endoplasmic reticulum membrane TAS 25202012
GO:0005886 plasma membrane TAS 25202012
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 NAS 25202012
GO:0006897 endocytosis IEA --
GO:0006898 receptor-mediated endocytosis ISS 29199275
GO:0010976 positive regulation of neuron projection development ISS --
GO:0015917 aminophospholipid transport ISS 29199275
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

mRNA/cDNA for SCARB2 Gene

2 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
27 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SCARB2

Clone 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

Expression for SCARB2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for SCARB2 Gene



Protein tissue co-expression partners for SCARB2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SCARB2

SOURCE GeneReport for Unigene cluster for SCARB2 Gene:

Hs.349656

Evidence on tissue expression from TISSUES for SCARB2 Gene

  • Nervous system(4.9)
  • Eye(4.6)
  • Liver(4.6)
  • Lung(3.7)
  • Spleen(3)
  • Kidney(2.9)
  • Pancreas(2.9)
  • Heart(2.5)
  • Muscle(2.2)
  • Blood(2.1)
  • Skin(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SCARB2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • ear
  • eye
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • pharynx
  • skull
Thorax:
  • chest wall
  • clavicle
  • esophagus
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • intestine
  • kidney
  • large intestine
  • liver
  • small intestine
  • spleen
  • stomach
Pelvis:
  • pelvis
  • ureter
  • urinary bladder
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with SCARB2: view

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 31 30
  • 99.51 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SCARB2 31 30
  • 89.4 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SCARB2 31 30
  • 89.05 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Scarb2 30
  • 84.73 (n)
mouse
(Mus musculus)
Mammalia Scarb2 17 31 30
  • 84.52 (n)
oppossum
(Monodelphis domestica)
Mammalia SCARB2 31
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SCARB2 31
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves SCARB2 31 30
  • 65.9 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SCARB2 31
  • 53 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia scarb2 30
  • 61.32 (n)
Str.13862 30
African clawed frog
(Xenopus laevis)
Amphibia cd36l2-prov 30
zebrafish
(Danio rerio)
Actinopterygii scarb2 30
  • 56.3 (n)
SCARB2 31
  • 49 (a)
OneToOne
cd36l2 30
fruit fly
(Drosophila melanogaster)
Insecta emp 30
  • 47.36 (n)
Snmp2 31
  • 24 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta SCRB9 30
  • 46.75 (n)
worm
(Caenorhabditis elegans)
Secernentea scav-1 31
  • 23 (a)
ManyToMany
scav-2 31
  • 23 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for SCARB2: view image

Paralogs for SCARB2 Gene

Paralogs for SCARB2 Gene

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

  • SCRB2_HUMAN
  • D6RDG0_HUMAN
  • L0R538_HUMAN
genes like me logo Genes that share paralogs with SCARB2: view

Variants for SCARB2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SCARB2 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
641570 Uncertain Significance: Progressive myoclonic epilepsy 76,179,614(-) G/A MISSENSE_VARIANT,INTRON_VARIANT
642946 Uncertain Significance: Progressive myoclonic epilepsy 76,174,316(-) G/A INTRON_VARIANT
656047 Uncertain Significance: Progressive myoclonic epilepsy 76,163,296(-) T/C MISSENSE_VARIANT
656518 Uncertain Significance: Progressive myoclonic epilepsy 76,163,321(-) G/C MISSENSE_VARIANT
657075 Uncertain Significance: Progressive myoclonic epilepsy 76,175,917(-) T/C INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for SCARB2 Gene

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)

Additional Variant Information 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

(16) MalaCards diseases for SCARB2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- 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}.

Additional Disease Information for SCARB2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 (Biochemical and biophysical research communications 1992) 2 3 4 23 54
  2. Scavenger receptor B2 is a cellular receptor for enterovirus 71. (PMID: 19543282) Yamayoshi S … Koike S (Nature medicine 2009) 3 4 23 54
  3. The CD36, CLA-1 (CD36L1), and LIMPII (CD36L2) gene family: cellular distribution, chromosomal location, and genetic evolution. (PMID: 7539776) Calvo D … Vega MA (Genomics 1995) 3 4 23 54
  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 IV … Rico M (The Journal of biological chemistry 1994) 3 4 23 54
  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 54

Products for SCARB2 Gene

Sources for SCARB2 Gene