SCARB2 (Scavenger Receptor Class B Member 2)
A lysosomal membrane protein implicated in action myoclonus-renal failure syndrome and viral entry, with emerging roles in cancer and neurodegeneration.
Gene Information Card
| Symbol | SCARB2 |
|---|---|
| Full Name | Scavenger Receptor Class B Member 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 4q21.1 |
| NCBI Gene ID | 950 ncbi.nlm.nih.gov/gene/950 |
| Ensembl ID | ENSG00000135678 |
| UniProt ID | Q14108 |
| OMIM ID | 602257 |
| HGNC ID | 1665 |
| Aliases | LIMP-2, HLGP85, CD36L2, LGP85 |
Description
SCARB2 encodes the lysosomal integral membrane protein type 2 (LIMP-2), a type III glycoprotein predominantly localized to lysosomal and endosomal membranes. It functions in lysosomal biogenesis, cholesterol transport, and protein sorting. Notably, SCARB2 serves as a receptor for enterovirus 71 (EV71) and related viruses, facilitating viral entry. Mutations in SCARB2 cause action myoclonus-renal failure syndrome (AMRF) and are associated with progressive myoclonic epilepsy. The protein also plays a role in the trafficking of beta-glucocerebrosidase (GBA), linking it to Gaucher disease pathology.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Action myoclonus-renal failure syndrome (AMRF) | Loss-of-function mutations in SCARB2 lead to impaired lysosomal function and protein trafficking, resulting in myoclonus, renal failure, and neurological decline. | OMIM (602257); ClinVar; multiple case reports |
| Progressive myoclonic epilepsy (PME) | SCARB2 mutations cause a form of PME with renal involvement, distinct from other PME types. | OMIM; literature (e.g., Dibbens et al., 2009) |
| Gaucher disease (modifier) | SCARB2 is required for lysosomal targeting of glucocerebrosidase (GBA); deficiency may exacerbate GBA-related pathology. | UniProt; functional studies |
| Enterovirus 71 infection (hand, foot, and mouth disease) | SCARB2 acts as a cellular receptor for EV71, mediating viral attachment and entry. | NCBI Gene; PubMed (e.g., Yamayoshi et al., 2009) |
| Cancer (potential) | Altered SCARB2 expression may influence tumor progression via lysosomal function and immune modulation, but evidence is preliminary. | COSMIC; limited studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 15.2 | High |
| Liver | 12.8 | High |
| Brain | 8.5 | Medium |
| Lung | 6.3 | Medium |
| Heart | 4.1 | Low |
| Skeletal Muscle | 2.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 18.5 | High expression; commonly used for viral entry studies |
| HeLa | 12.3 | Moderate expression |
| HepG2 | 10.1 | Hepatocyte line; high expression |
| A549 | 7.8 | Lung carcinoma; moderate |
| K562 | 3.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.862C>T (p.Arg288Trp) | Missense | Rare | Loss of function; associated with AMRF |
| c.1123C>T (p.Arg375Ter) | Nonsense | Rare | Truncated protein; loss of function; AMRF |
| c.1210G>A (p.Gly404Arg) | Missense | Rare | Impaired protein trafficking; AMRF |
| c.1345A>G (p.Thr449Ala) | Missense | Rare | Potential functional impact; reported in PME |
| c.1606C>T (p.Arg536Cys) | Missense | Rare | Loss of function; AMRF |
Mutation functional classification
Loss of Function (LOF)
Most pathogenic SCARB2 mutations are loss-of-function, leading to reduced or absent protein, impaired lysosomal targeting, and disrupted cellular homeostasis.
Gain of Function (GOF)
No evidence of gain-of-function mutations in SCARB2.
Dominant Negative (DN)
No evidence of dominant-negative effects; SCARB2 mutations are typically recessive.
View complete mutation data：
Gene Ontology (GO)
| • scavenger receptor activity | • protein binding |
| • virus receptor activity | • lysosomal membrane |
| • integral component of membrane | • cholesterol transport |
| • lysosome organization | • response to virus |
Pathways
• Lysosome
• Endocytosis
• Viral entry via endocytosis
• Cholesterol metabolism
Protein Summary
SCARB2 encodes LIMP-2, a 478-amino-acid type III membrane protein with a large luminal domain and two transmembrane regions. It is heavily glycosylated and localizes to lysosomes and endosomes. LIMP-2 is essential for the mannose-6-phosphate-independent trafficking of beta-glucocerebrosidase (GBA) to lysosomes. It also mediates the entry of enterovirus 71 and other picornaviruses. Structurally, it belongs to the CD36 scavenger receptor family, characterized by a conserved CD36 domain. Mutations affecting its function lead to lysosomal storage defects and neurological/renal syndromes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SCARB2 Knockout HEK293 Cell Line | EDJ-KQ14398 | Human | 950 | Details Get a Quote |
| SCARB2 Knockout HeLa Cell Line | EDJ-KQ18203 | Human | 950 | Details Get a Quote |
| SCARB2 Knockout HCT 116 Cell Line | EDJ-KQ47979 | Human | 950 | Details Get a Quote |
| SCARB2 Knockout A-549 Cell Line | EDJ-KQ45797 | Human | 950 | Details Get a Quote |
| SCARB2 Knockout NCI-H1299 Cell Line | EDJ-KZ445 | Human | 950 | Details Get a Quote |
