SCARF2 Chromosome 22
Scavenger receptor class F member 2
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What This Gene Does
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]
Gene Info
Gene Group
Scavenger receptors
Locus Type
gene with protein product
Location
22q11.21
Ensembl
ENSG00000244486
Associated Conditions (2)
Van den Ende-Gupta syndrome
Inborn genetic diseases
Key Variants
RS150746534
Conflicting classifications of pathogenicity
Van den Ende-Gupta syndrome, Van den Ende-Gupta syndrome
Health Risk
RS537247534
Conflicting classifications of pathogenicity
Health Risk
RS779264604
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS984158225
Conflicting classifications of pathogenicity
Van den Ende-Gupta syndrome, Inborn genetic diseases, Van den Ende-Gupta syndrome
Health Risk
RS1215759021
Likely pathogenic
Van den Ende-Gupta syndrome, Van den Ende-Gupta syndrome
Health Risk
RS1241075295
Likely pathogenic
Van den Ende-Gupta syndrome, Van den Ende-Gupta syndrome
Health Risk
RS1368086969
Likely pathogenic
Van den Ende-Gupta syndrome, Van den Ende-Gupta syndrome
Health Risk
RS387907086
Likely pathogenic
Van den Ende-Gupta syndrome, Van den Ende-Gupta syndrome
Health Risk
RS2146130979
Pathogenic
Van den Ende-Gupta syndrome, Van den Ende-Gupta syndrome
Health Risk
RS2146131503
Pathogenic
Van den Ende-Gupta syndrome, Van den Ende-Gupta syndrome
Health Risk
RS2146133110
Pathogenic
Van den Ende-Gupta syndrome, Van den Ende-Gupta syndrome
Health Risk
RS587776902
Pathogenic
Van den Ende-Gupta syndrome, Van den Ende-Gupta syndrome
Health Risk
All Variants (16)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS150746534 | Health Risk | Conflicting classifications of pathogenicity | Van den Ende-Gupta syndrome, Van den Ende-Gupta syndrome |
| RS537247534 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS779264604 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS984158225 | Health Risk | Conflicting classifications of pathogenicity | Van den Ende-Gupta syndrome, Inborn genetic diseases, Van den Ende-Gupta syndrome |
| RS1215759021 | Health Risk | Likely pathogenic | Van den Ende-Gupta syndrome, Van den Ende-Gupta syndrome |
| RS1241075295 | Health Risk | Likely pathogenic | Van den Ende-Gupta syndrome, Van den Ende-Gupta syndrome |
| RS1368086969 | Health Risk | Likely pathogenic | Van den Ende-Gupta syndrome, Van den Ende-Gupta syndrome |
| RS387907086 | Health Risk | Likely pathogenic | Van den Ende-Gupta syndrome, Van den Ende-Gupta syndrome |
| RS2146130979 | Health Risk | Pathogenic | Van den Ende-Gupta syndrome, Van den Ende-Gupta syndrome |
| RS2146131503 | Health Risk | Pathogenic | Van den Ende-Gupta syndrome, Van den Ende-Gupta syndrome |
| RS2146133110 | Health Risk | Pathogenic | Van den Ende-Gupta syndrome, Van den Ende-Gupta syndrome |
| RS587776902 | Health Risk | Pathogenic | Van den Ende-Gupta syndrome, Van den Ende-Gupta syndrome |
| RS587777657 | Health Risk | Pathogenic | Van den Ende-Gupta syndrome, Van den Ende-Gupta syndrome |
| RS587777658 | Health Risk | Pathogenic | Van den Ende-Gupta syndrome, Van den Ende-Gupta syndrome |
| RS786205883 | Health Risk | Pathogenic | Van den Ende-Gupta syndrome, Van den Ende-Gupta syndrome |
| RS921038430 | Health Risk | Pathogenic | Van den Ende-Gupta syndrome, Van den Ende-Gupta syndrome |