SCARF2

Chr 22

scavenger receptor class F member 2

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

NCBI Gene: 91179 ENSG00000244486 UniProt: Q96GP6

SCARF2 encodes an adhesion protein that mediates cell-to-cell interactions and has limited scavenger receptor activity for modified lipoproteins. Biallelic mutations cause Van den Ende-Gupta syndrome, an autosomal recessive disorder characterized by distinctive craniofacial features, skeletal abnormalities, and developmental delays. The gene is highly constrained against loss-of-function variants (pLI 1.0, LOEUF 0.19), indicating intolerance to protein loss.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt

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]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtVan den Ende-Gupta syndrome

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.19

LOEUF· LoF intol.

LOF

Mechanism· G2P

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GeneReview available — SCARF2