SCARB2 Chromosome 4
Scavenger receptor class B member 2
Upload your DNA to see your personal genotypes for variants in SCARB2.
What This Gene Does
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]
Gene Info
Gene Group
Scavenger receptors
Locus Type
gene with protein product
Location
4q21.1
Ensembl
ENSG00000138760
Associated Conditions (6)
Action myoclonus-renal failure syndrome
Progressive myoclonic epilepsy
Inborn genetic diseases
SCARB2-related disorder
Focal segmental glomerulosclerosis
Self-limited epilepsy with centrotemporal spikes
Key Variants
RS117600063
Conflicting classifications of pathogenicity
Action myoclonus-renal failure syndrome, Progressive myoclonic epilepsy, Inborn genetic diseases
Health Risk
RS1388493177
Conflicting classifications of pathogenicity
Progressive myoclonic epilepsy, Action myoclonus-renal failure syndrome, Progressive myoclonic epilepsy
Health Risk
RS143518519
Conflicting classifications of pathogenicity
Progressive myoclonic epilepsy, Inborn genetic diseases, SCARB2-related disorder
Health Risk
RS143558324
Conflicting classifications of pathogenicity
Action myoclonus-renal failure syndrome, Progressive myoclonic epilepsy, Inborn genetic diseases
Health Risk
RS147142116
Conflicting classifications of pathogenicity
Progressive myoclonic epilepsy, Inborn genetic diseases, SCARB2-related disorder
Health Risk
RS147159813
Conflicting classifications of pathogenicity
Action myoclonus-renal failure syndrome, Progressive myoclonic epilepsy, Inborn genetic diseases
Health Risk
RS149997095
Conflicting classifications of pathogenicity
Progressive myoclonic epilepsy, Inborn genetic diseases, Action myoclonus-renal failure syndrome
Health Risk
RS192876326
Conflicting classifications of pathogenicity
Progressive myoclonic epilepsy, Action myoclonus-renal failure syndrome, Inborn genetic diseases
Health Risk
RS368869126
Conflicting classifications of pathogenicity
Progressive myoclonic epilepsy, Inborn genetic diseases, SCARB2-related disorder
Health Risk
RS368906199
Conflicting classifications of pathogenicity
Progressive myoclonic epilepsy, Inborn genetic diseases, Self-limited epilepsy with centrotemporal spikes
Health Risk
RS564647544
Conflicting classifications of pathogenicity
Progressive myoclonic epilepsy, Inborn genetic diseases, Action myoclonus-renal failure syndrome
Health Risk
RS727502783
Conflicting classifications of pathogenicity
Action myoclonus-renal failure syndrome, Progressive myoclonic epilepsy, Action myoclonus-renal failure syndrome
Health Risk
All Variants (50)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS117600063 | Health Risk | Conflicting classifications of pathogenicity | Action myoclonus-renal failure syndrome, Progressive myoclonic epilepsy, Inborn genetic diseases |
| RS1388493177 | Health Risk | Conflicting classifications of pathogenicity | Progressive myoclonic epilepsy, Action myoclonus-renal failure syndrome, Progressive myoclonic epilepsy |
| RS143518519 | Health Risk | Conflicting classifications of pathogenicity | Progressive myoclonic epilepsy, Inborn genetic diseases, SCARB2-related disorder |
| RS143558324 | Health Risk | Conflicting classifications of pathogenicity | Action myoclonus-renal failure syndrome, Progressive myoclonic epilepsy, Inborn genetic diseases |
| RS147142116 | Health Risk | Conflicting classifications of pathogenicity | Progressive myoclonic epilepsy, Inborn genetic diseases, SCARB2-related disorder |
| RS147159813 | Health Risk | Conflicting classifications of pathogenicity | Action myoclonus-renal failure syndrome, Progressive myoclonic epilepsy, Inborn genetic diseases |
| RS149997095 | Health Risk | Conflicting classifications of pathogenicity | Progressive myoclonic epilepsy, Inborn genetic diseases, Action myoclonus-renal failure syndrome |
| RS192876326 | Health Risk | Conflicting classifications of pathogenicity | Progressive myoclonic epilepsy, Action myoclonus-renal failure syndrome, Inborn genetic diseases |
| RS368869126 | Health Risk | Conflicting classifications of pathogenicity | Progressive myoclonic epilepsy, Inborn genetic diseases, SCARB2-related disorder |
| RS368906199 | Health Risk | Conflicting classifications of pathogenicity | Progressive myoclonic epilepsy, Inborn genetic diseases, Self-limited epilepsy with centrotemporal spikes |
| RS564647544 | Health Risk | Conflicting classifications of pathogenicity | Progressive myoclonic epilepsy, Inborn genetic diseases, Action myoclonus-renal failure syndrome |
| RS727502783 | Health Risk | Conflicting classifications of pathogenicity | Action myoclonus-renal failure syndrome, Progressive myoclonic epilepsy, Action myoclonus-renal failure syndrome |
| RS746370059 | Health Risk | Conflicting classifications of pathogenicity | Progressive myoclonic epilepsy, Inborn genetic diseases, Progressive myoclonic epilepsy |
| RS757930862 | Health Risk | Conflicting classifications of pathogenicity | Progressive myoclonic epilepsy, Progressive myoclonic epilepsy |
| RS759493134 | Health Risk | Conflicting classifications of pathogenicity | Progressive myoclonic epilepsy, Inborn genetic diseases, Progressive myoclonic epilepsy |
| RS762251387 | Health Risk | Conflicting classifications of pathogenicity | Progressive myoclonic epilepsy, Action myoclonus-renal failure syndrome, Progressive myoclonic epilepsy |
| RS772501510 | Health Risk | Conflicting classifications of pathogenicity | Progressive myoclonic epilepsy, Action myoclonus-renal failure syndrome, Progressive myoclonic epilepsy |
| RS773017713 | Health Risk | Conflicting classifications of pathogenicity | Progressive myoclonic epilepsy, Action myoclonus-renal failure syndrome, Progressive myoclonic epilepsy |
| RS780352333 | Health Risk | Conflicting classifications of pathogenicity | Progressive myoclonic epilepsy, Action myoclonus-renal failure syndrome, Progressive myoclonic epilepsy |
| RS995674389 | Health Risk | Conflicting classifications of pathogenicity | Action myoclonus-renal failure syndrome, Progressive myoclonic epilepsy, Action myoclonus-renal failure syndrome |
| RS1168653552 | Health Risk | Likely pathogenic | Action myoclonus-renal failure syndrome, Action myoclonus-renal failure syndrome |
| RS1732338984 | Health Risk | Likely pathogenic | Progressive myoclonic epilepsy, Progressive myoclonic epilepsy |
| RS1733108376 | Health Risk | Likely pathogenic | Action myoclonus-renal failure syndrome, Action myoclonus-renal failure syndrome |
| RS2109937707 | Health Risk | Likely pathogenic | Progressive myoclonic epilepsy, Progressive myoclonic epilepsy |
| RS2476210999 | Health Risk | Likely pathogenic | Progressive myoclonic epilepsy, Progressive myoclonic epilepsy |
| RS2476228193 | Health Risk | Likely pathogenic | Progressive myoclonic epilepsy, Progressive myoclonic epilepsy |
| RS727502781 | Health Risk | Likely pathogenic | Action myoclonus-renal failure syndrome, Action myoclonus-renal failure syndrome, Action myoclonus-renal failure syndrome |
| RS1178344132 | Health Risk | Pathogenic | Action myoclonus-renal failure syndrome, Action myoclonus-renal failure syndrome |
| RS121909118 | Health Risk | Pathogenic | Action myoclonus-renal failure syndrome, Progressive myoclonic epilepsy, Action myoclonus-renal failure syndrome |
| RS121909119 | Health Risk | Pathogenic | Action myoclonus-renal failure syndrome, Action myoclonus-renal failure syndrome |
| RS1553948516 | Health Risk | Pathogenic | Action myoclonus-renal failure syndrome, Action myoclonus-renal failure syndrome |
| RS1578733075 | Health Risk | Pathogenic | Action myoclonus-renal failure syndrome, Action myoclonus-renal failure syndrome |
| RS1732195544 | Health Risk | Pathogenic | Progressive myoclonic epilepsy, Action myoclonus-renal failure syndrome, Progressive myoclonic epilepsy |
| RS2109942038 | Health Risk | Pathogenic | Progressive myoclonic epilepsy, Progressive myoclonic epilepsy |
| RS2109944333 | Health Risk | Pathogenic | Progressive myoclonic epilepsy, Progressive myoclonic epilepsy |
| RS2476210936 | Health Risk | Pathogenic | Progressive myoclonic epilepsy, Progressive myoclonic epilepsy |
| RS2476228297 | Health Risk | Pathogenic | Progressive myoclonic epilepsy, Progressive myoclonic epilepsy |
| RS2476284377 | Health Risk | Pathogenic | Progressive myoclonic epilepsy, Progressive myoclonic epilepsy |
| RS727502772 | Health Risk | Pathogenic | Action myoclonus-renal failure syndrome, Action myoclonus-renal failure syndrome |
| RS727502773 | Health Risk | Pathogenic | Action myoclonus-renal failure syndrome, Progressive myoclonic epilepsy, Inborn genetic diseases |
| RS727502782 | Health Risk | Pathogenic | Action myoclonus-renal failure syndrome, Action myoclonus-renal failure syndrome |
| RS796052949 | Health Risk | Pathogenic | — |
| RS886041075 | Health Risk | Pathogenic | Action myoclonus-renal failure syndrome, Progressive myoclonic epilepsy, Action myoclonus-renal failure syndrome |
| RS886041076 | Health Risk | Pathogenic | Action myoclonus-renal failure syndrome, Progressive myoclonic epilepsy, Action myoclonus-renal failure syndrome |
| RS886041077 | Health Risk | Pathogenic | Action myoclonus-renal failure syndrome, Action myoclonus-renal failure syndrome |
| RS886041078 | Health Risk | Pathogenic | Action myoclonus-renal failure syndrome, Progressive myoclonic epilepsy, Inborn genetic diseases |
| RS1732698125 | Health Risk | Pathogenic/Likely pathogenic | Progressive myoclonic epilepsy, Action myoclonus-renal failure syndrome, Progressive myoclonic epilepsy |
| RS200053119 | Health Risk | Pathogenic/Likely pathogenic | Action myoclonus-renal failure syndrome, Progressive myoclonic epilepsy, Action myoclonus-renal failure syndrome |
| RS2476318271 | Health Risk | Pathogenic/Likely pathogenic | Progressive myoclonic epilepsy, Action myoclonus-renal failure syndrome, Progressive myoclonic epilepsy |
| RS780638384 | Health Risk | Pathogenic/Likely pathogenic | Progressive myoclonic epilepsy, Action myoclonus-renal failure syndrome, Progressive myoclonic epilepsy |