SCARB2 scavenger receptor class B member 2
Gene ID: 950, updated on 19-Sep-2024Gene type: protein coding
Also known as: AMRF; EPM4; LGP85; CD36L2; HLGP85; LIMP-2; LIMPII; SR-BII
- See all available tests in GTR for this gene
- Go to complete Gene record for SCARB2
- Go to Variation Viewer for SCARB2 variants
Summary
The protein encoded by this gene is a type III glycoprotein that is located primarily in limiting membranes of lysosomes and endosomes. Earlier studies in mice and rat suggested that this protein may participate in membrane transportation and the reorganization of endosomal/lysosomal compartment. The protein deficiency in mice was reported to impair cell membrane transport processes and cause pelvic junction obstruction, deafness, and peripheral neuropathy. Further studies in human showed that this protein is a ubiquitously expressed protein and that it is involved in the pathogenesis of HFMD (hand, foot, and mouth disease) caused by enterovirus-71 and possibly by coxsackievirus A16. Mutations in this gene caused an autosomal recessive progressive myoclonic epilepsy-4 (EPM4), also known as action myoclonus-renal failure syndrome (AMRF). Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Action myoclonus-renal failure syndrome | See labs |
Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease. GeneReviews: Not available | |
Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease. GeneReviews: Not available |
Copy number response
Description |
---|
Copy number response Haploinsufficency No evidence available (Last evaluated 2012-07-06) ClinGen Genome Curation PageTriplosensitivity No evidence available (Last evaluated 2012-07-06) ClinGen Genome Curation Page |
Genomic context
- Location:
- 4q21.1
- Sequence:
- Chromosome: 4; NC_000004.12 (76158737..76234532, complement)
- Total number of exons:
- 14
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for SCARB2 variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SCARB2 database
- Variation ViewerRelated Variants
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