SCARF2

Chr 22AR

scavenger receptor class F member 2

Also known as: NSR1, SREC-II, SREC2, SRECRP-1, VDEGS

The protein encoded by this gene is similar to SCARF1/SREC-I, a scavenger receptor protein that mediates the binding and degradation of acetylated low density lipoprotein (Ac-LDL). This protein has only little activity of internalizing modified low density lipoproteins (LDL), but it can interact with SCARF1 through its extracellular domain. The association of this protein with SCARF1 is suppressed by the presence of scavenger ligands. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]

OMIMResearchGenerating clinical summary…
LOFmechanismARLOEUF 0.191 OMIM phenotype
Clinical SummarySCARF2
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

LoF intolerant — likely haploinsufficient
LoF Constraint?
0.19LOEUF
pLI 1.000
Z-score 5.01
OE 0.06 (0.020.19)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?
3.02Z-score
OE missense 0.62 (0.560.68)
305 obs / 493.6 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.06 (0.020.19)
00.351.4
Missense OE?0.62 (0.560.68)
00.61.4
Synonymous OE?0.79
01.21.6
LoF obs/exp: 2 / 33.1Missense obs/exp: 305 / 493.6Syn Z: 2.55
Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗
definitiveSCARF2-related Van den Ende-Gupta syndromeLOFAR

This gene — mechanism propensity

Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.

DN
0.3395th %ile
GOF
0.6053th %ile
LOF
0.73top 10%

The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

SCARF2 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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