• 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
SCARB2 (HGNC:1665) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
scavenger receptor class B member 2
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
CD36L2
Alias symbols
HLGP85, LIMPII, SR-BII, LIMP-2
%HI
24.43(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.72(Read more about gnomAD LOEUF score)
Cytoband
4q21.1
Genomic Coordinates
GRCh37/hg19: chr4:77079890-77134977 NCBI Ensembl UCSC
GRCh38/hg38: chr4:76158737-76234532 NCBI Ensembl UCSC
MANE Select Transcript
NM_005506.4 ENST00000264896.8 (Read more about MANE Select)
Function
Acts as a lysosomal receptor for glucosylceramidase (GBA1) targeting. {ECO:0000269|PubMed:18022370}. (Microbial infection) Acts as a receptor for enterovirus 71. {ECO:0000269|PubMed:19543282, ECO:0000269|PubMed:30531980}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-29879
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
07/06/2012

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
Mutations in SCARB2 are associated with autosomal recessive progressive myoclonic epilepsy with or without renal failure. Of note, there have been rare reports of heterozygotes (or reported heterozygotes) exhibiting symptoms of the disorder. In one report (PMID:22032306), a heterozygous sibling of homozygous affected individuals exhibited seizures and polyneuropathy; in this same report, screening of unselected invididuals with polyneuropathy identified 2 heterozygous carriers of the same frameshift mutation (not found in 50 controls). In the other report (PMID:19454373), an individual with progressive myoclonic epilepsy was found to have one missense mutation; a second mutation could not be detected, though deletion/duplication analysis was not pursued. A recent report also suggested that heterozygous changes in SCARB2 could account for a more severe phenotype amongst individuals with Gaucher disease (PMID:21796727)

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
No reports found describing duplications of SCARB2.

Genomic View

Select assembly: (NC_000004.11) (NC_000004.12)