InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SCARB2

Summary

InnateDB Protein

IDBP-25363.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SCARB2

Protein Name

scavenger receptor class B, member 2

Synonyms

AMRF; CD36L2; EPM4; HLGP85; LGP85; LIMP-2; LIMPII; SR-BII;

Species

Homo sapiens

Ensembl Protein

ENSP00000264896

InnateDB Gene

IDBG-25361 (SCARB2)

Protein Structure

UniProt Annotation

Function

Acts as a lysosomal receptor for glucosylceramidase (GBA) targeting. {ECO:0000269PubMed:18022370}.

Subcellular Localization

Lysosome membrane {ECO:0000269PubMed:17897319, ECO:0000269PubMed:18022370, ECO:0000269PubMed:7509809}; Multi-pass membrane protein {ECO:0000269PubMed:17897319, ECO:0000269PubMed:18022370, ECO:0000269PubMed:7509809}.

Disease Associations

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:0000269PubMed:18308289, ECO:0000269PubMed:18424452, ECO:0000269PubMed:19454373, ECO:0000269PubMed: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:0000269PubMed:21796727}.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 14 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Experimentally validated
Total	14 [view]
Protein-Protein	14 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004872	receptor activity
GO:0005515	protein binding
GO:0019899	enzyme binding

Biological Process

GO:0006622	protein targeting to lysosome
GO:0007155	cell adhesion

Cellular Component

GO:0005765	lysosomal membrane
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0043202	lysosomal lumen
GO:0070062	extracellular vesicular exosome