SCARB2 |
- 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)