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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
21
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
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
View all (17 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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
View all (14 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EPILEPSY, PROGRESSIVE MYOCLONIC, 4, WITH OR WITHOUT RENAL FAILURE CTD, HPO
CTD, HPO
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EPILEPSY, ROLANDIC Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Action Myoclonus-Renal Failure Syndrome Action Myoclonus-Renal Failure Syndrome BEFREE 18308289, 19847901, 19933215, 21782476, 22032306, 22050460, 23659519, 24485911, 26018676, 27582254, 29941711
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Action Myoclonus-Renal Failure Syndrome Action Myoclonus-Renal Failure Syndrome CLINVAR_DG 18308289, 18424452, 19454373, 19847901, 21670406, 21796727, 22032306, 22767442, 23225201, 23325613, 23659519, 24339182, 24485911, 24620919
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Action Myoclonus-Renal Failure Syndrome Action Myoclonus-Renal Failure Syndrome UNIPROT_DG 18308289, 18424452, 19454373, 21670406
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Action Myoclonus-Renal Failure Syndrome Action Myoclonus-Renal Failure Syndrome GENOMICS_ENGLAND_DG 19597094, 21670406, 22032306, 29605618
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Action myoclonus-renal failure syndrome Action Myoclonus-Renal Failure Syndrome Orphanet
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Action Myoclonus-Renal Failure Syndrome Action Myoclonus-Renal Failure Syndrome CTD_human_DG
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Adult Neuronal Ceroid Lipofuscinosis Neuronal Ceroid Lipofuscinosis BEFREE 25576872
★☆☆☆☆
Found in Text Mining only
Anemia Anemia HPO_DG
★☆☆☆☆
Found in Text Mining only
Anorexia Anorexia HPO_DG
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 24188128
★☆☆☆☆
Found in Text Mining only