Gene Gene information from NCBI Gene database.
Entrez ID 950
Gene name Scavenger receptor class B member 2
Gene symbol SCARB2
Synonyms (NCBI Gene)
AMRFCD36L2EPM4HLGP85LGP85LIMP-2LIMPIISR-BII
Chromosome 4
Chromosome location 4q21.1
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 reorgani
SNPs SNP information provided by dbSNP.
29
SNP ID Visualize variation Clinical significance Consequence
rs117157204 C>T Conflicting-interpretations-of-pathogenicity, benign Missense variant, coding sequence variant
rs117600063 T>A Conflicting-interpretations-of-pathogenicity, uncertain-significance Missense variant, coding sequence variant, intron variant
rs121909118 G>A Pathogenic Stop gained, coding sequence variant
rs121909119 C>T Pathogenic Stop gained, coding sequence variant, intron variant
rs143518519 G>A Benign, conflicting-interpretations-of-pathogenicity Synonymous variant, intron variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
1070
miRTarBase ID miRNA Experiments Reference
MIRT025719 hsa-miR-7-5p Microarray 17612493
MIRT025719 hsa-miR-7-5p Microarray 19073608
MIRT049516 hsa-miR-92a-3p CLASH 23622248
MIRT046711 hsa-miR-222-3p CLASH 23622248
MIRT044021 hsa-miR-365a-3p CLASH 23622248
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
SPI1 Unknown 8007948
STAT2 Unknown 17998316
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
62
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane TAS 25202012
GO:0001618 Function Virus receptor activity IEA
GO:0001786 Function Phosphatidylserine binding IEA
GO:0001786 Function Phosphatidylserine binding ISS 29199275
GO:0004888 Function Transmembrane signaling receptor activity TAS 25202012
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602257 1665 ENSG00000138760
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q14108
Protein name Lysosome membrane protein 2 (85 kDa lysosomal membrane sialoglycoprotein) (LGP85) (CD36 antigen-like 2) (Lysosome membrane protein II) (LIMP II) (Scavenger receptor class B member 2) (CD antigen CD36)
Protein function Acts as a lysosomal receptor for glucosylceramidase (GBA1) targeting. ; (Microbial infection) Acts as a receptor for enterovirus 71.
PDB 4F7B , 4Q4B , 4Q4F , 4TVZ , 4TW0 , 4TW2 , 5UPH , 5XBM , 6I2K
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01130 CD36 11 457 CD36 family Family
Sequence
Sequence length 478
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Lysosome   Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
512
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Action myoclonus-renal failure syndrome Likely pathogenic; Pathogenic rs1168653552, rs1178344132, rs1732698125, rs200053119, rs2476318271, rs727502772, rs727502773, rs121909118, rs121909119, rs727502781, rs886041078, rs886041077, rs886041076, rs886041075, rs727502782
View all (6 more)
RCV001535828
RCV001784936
RCV003130634
RCV000258860
RCV005034576
RCV000007801
RCV000007802
RCV000007803
RCV000007804
RCV003133891
RCV000258865
RCV000258862
RCV000258872
RCV000258867
RCV000023183
RCV000023184
RCV005034032
RCV000531644
RCV000995636
RCV005040017
RCV001780188
RCV001283839
Progressive myoclonic epilepsy Pathogenic; Likely pathogenic rs2109942038, rs2109937707, rs2109944333, rs1732698125, rs200053119, rs2476210936, rs2476318271, rs727502773, rs121909118, rs886041078, rs886041076, rs886041075, rs2476210999, rs2476228193, rs2476284377
View all (4 more)
RCV001967872
RCV001989668
RCV001953796
RCV002007395
RCV000698181
RCV002837509
RCV003011917
RCV001203979
RCV001390386
RCV001859529
RCV001385676
RCV003746509
RCV003583740
RCV003583925
RCV003746728
RCV003747391
RCV001208232
RCV001223724
RCV001247676
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cholangiocarcinoma Benign rs75285019 RCV005903994
Focal segmental glomerulosclerosis Conflicting classifications of pathogenicity; Benign rs143558324, rs143655258, rs2228380 RCV002294065
RCV002294073
RCV002294163
Gastric cancer Benign rs75285019 RCV005903993
Sarcoma Benign rs75285019 RCV005903992
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Ataxia Associate 22050460, 35346091
Carcinoma Hepatocellular Associate 20419844
Carcinoma Renal Cell Associate 35508649
Cardiomyopathy Dilated Associate 22032306
Cognition Disorders Associate 35346091
Congenital Hereditary and Neonatal Diseases and Abnormalities Associate 28222800
Deafness Associate 28222800
Demyelinating Diseases Associate 22032306
Disorders of Excessive Somnolence Associate 28198671
Dysarthria Associate 35346091