SCARB2

Chr 4AR

scavenger receptor class B member 2

Also known as: AMRF, CD36L2, EPM4, HLGP85, LGP85, LIMP-2, LIMPII, SR-BII

SCARB2 encodes a type III glycoprotein located in lysosomal and endosomal limiting membranes that functions in membrane transportation and reorganization of endosomal/lysosomal compartments. Mutations cause autosomal recessive progressive myoclonic epilepsy-4 (EPM4), also known as action myoclonus-renal failure syndrome, through impaired cellular membrane transport processes.

GeneReviewsOMIMResearchSummary from RefSeq, OMIM, UniProt
ARLOEUF 0.721 OMIM phenotype
Clinical SummarySCARB2
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Gene-Disease Validity (ClinGen)
progressive myoclonus epilepsy · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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GeneReview available — SCARB2
Authoritative clinical overview · Recommended first read
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
0.72LOEUF
pLI 0.000
Z-score 2.61
OE 0.44 (0.270.72)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
1.32Z-score
OE missense 0.77 (0.680.86)
194 obs / 253.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.44 (0.270.72)
00.351.4
Missense OE0.77 (0.680.86)
00.61.4
Synonymous OE0.88
01.21.6
LoF obs/exp: 11 / 25.1Missense obs/exp: 194 / 253.3Syn Z: 0.92

ClinVar Variant Classifications

0 submitted variants 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.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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