Gene: SCARB2
Alternate names for this Gene: AMRF|CD36L2|EPM4|HLGP85|LGP85|LIMP-2|LIMPII|SR-BII
Gene Summary: 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.
Gene is located in Chromosome: 4
Location in Chromosome : 4q21.1
Description of this Gene: scavenger receptor class B member 2
Type of Gene: protein-coding
rs121909118 in
SCARB2 gene and
Action Myoclonus-Renal Failure Syndrome
PMID 18308289 2008 Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis.
PMID 21670406 2011 Mutation of SCARB2 in a patient with progressive myoclonus epilepsy and demyelinating peripheral neuropathy.
PMID 18424452 2008 A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome.
PMID 23659519 2014 Progressive myoclonus epilepsy: extraneuronal brown pigment deposition and system neurodegeneration in the brains of Japanese patients with novel SCARB2 mutations.
PMID 19847901 2009 SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure.
PMID 21796727 2011 A mutation in SCARB2 is a modifier in Gaucher disease.
PMID 19454373 2009 Biochemical and molecular findings in a patient with myoclonic epilepsy due to a mistarget of the beta-glucosidase enzyme.
PMID 22032306 2011 Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2 mutations in isolated AMRF features.
PMID 22767442 2012 A case of severe hearing loss in action myoclonus renal failure syndrome resulting from mutation in SCARB2.
PMID 24339182 2014 A new SCARB2 mutation in a patient with progressive myoclonus ataxia without renal failure.
PMID 23225201 2012 A new SCARB2 mutation in a patient with progressive myoclonus ataxia without renal failure.
PMID 24620919 2014 Using a combination of whole-exome sequencing and homozygosity mapping to identify a novel mutation of SCARB2.
PMID 24485911 2014 A novel SCARB2 mutation in progressive myoclonus epilepsy indicated by reduced β-glucocerebrosidase activity.
PMID 23325613 2013 A novel SCARB2 mutation causing late-onset progressive myoclonus epilepsy.
rs17001561 in
SCARB2 gene and
Body mass index
PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.
PMID 30108127 2018 A Large Multiethnic Genome-Wide Association Study of Adult Body Mass Index Identifies Novel Loci.
PMID 28443625 2017 Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.
PMID 25673413 2015 Genetic studies of body mass index yield new insights for obesity biology.
PMID 26426971 2015 The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study.
rs200053119 in
SCARB2 gene and
Myoclonic Epilepsies, Progressive
PMID 23659519 2014 Progressive myoclonus epilepsy: extraneuronal brown pigment deposition and system neurodegeneration in the brains of Japanese patients with novel SCARB2 mutations.
rs17001654 in
SCARB2 gene and
Smoking
PMID 28443625 2017 Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.