SCARB2

Chr 4AR

scavenger receptor class B member 2

NCBI Gene: 950ENSG00000138760UniProt: Q14108

Acts as a lysosomal receptor for glucosylceramidase (GBA1) targeting

Primary Disease Associations & Inheritance

Epilepsy, progressive myoclonic 4, with or without renal failureMIM #254900
AR
586
ClinVar variants
56
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— SCARB2
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
56 Pathogenic / Likely Pathogenic· 183 VUS of 586 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.72LOEUF
pLI 0.000
Z-score 2.61
OE 0.44 (0.27–0.72)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
1.32Z-score
OE missense 0.77 (0.68–0.86)
194 obs / 253.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.44 (0.27–0.72)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.77 (0.68–0.86)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.88
0≤1.21.6
LoF obs/exp: 11 / 25.1Missense obs/exp: 194 / 253.3Syn Z: 0.92

ClinVar Variant Classifications

586 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic40
Likely Pathogenic16
VUS183
Likely Benign176
Benign35
Conflicting16
40
Pathogenic
16
Likely Pathogenic
183
VUS
176
Likely Benign
35
Benign
16
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
15
0
25
0
40
Likely Pathogenic
14
0
2
0
16
VUS
1
157
23
2
183
Likely Benign
0
1
85
90
176
Benign
0
3
31
1
35
Conflicting
—16
Total3016116693466

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

SCARB2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM

Epilepsy, progressive myoclonic 4, with or without renal failure

MIM #254900

Molecular basis of disorder known

Autosomal recessive
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
SCARB2/LIMP2 deficiency in action myoclonus-renal failure syndrome.
Dibbens L et al.·Epileptic Disord
2016Review
Genome-wide association study of REM sleep behavior disorder identifies polygenic risk and brain expression effects.
Krohn L et al.·Nat Commun
2022
Genotype-Phenotype correlations of SCARB2 associated clinical presentation: a case report and in-depth literature review.
Atasu B et al.·BMC Neurol
2022Case report
Novel virulence determinants in VP1 regulate the assembly of enterovirus-A71.
Zhang W et al.·J Virol
2024
Progressive myoclonus epilepsy without renal failure in a Chinese family with a novel mutation in SCARB2 gene and literature review.
Tian WT et al.·Seizure
2018Review
Selective targeting of glioma via the SCARB2 receptor: transcriptomic, proteomic and in vitro functional validation for Enterovirus A71 virotherapy.
Li J et al.·Front Cell Infect Microbiol
2025Functional
The effects of SCARB2 and SELPLG gene polymorphisms on EV71 infection in hand, foot and mouth disease.
Duan FY et al.·Biomol Biomed
2023
SCARB2 associates with tumor-infiltrating neutrophils and predicts poor prognosis in breast cancer.
Zhang D et al.·Breast Cancer Res Treat
2024
Network analysis of the progranulin-deficient mouse brain proteome reveals pathogenic mechanisms shared in human frontotemporal dementia caused by GRN mutations.
Huang M et al.·Acta Neuropathol Commun
2020Functional
Relationship between polymorphism of receptor SCARB2 gene and clinical severity of enterovirus-71 associated hand-foot-mouth disease.
Wang X et al.·Virol J
2021
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools