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    SCARB2 scavenger receptor class B member 2 [ Homo sapiens (human) ]

    Gene ID: 950, updated on 13-Aug-2016
    Official Symbol
    SCARB2provided by HGNC
    Official Full Name
    scavenger receptor class B member 2provided by HGNC
    Primary source
    HGNC:HGNC:1665
    See related
    Ensembl:ENSG00000138760 HPRD:03772; MIM:602257; Vega:OTTHUMG00000130099
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AMRF; EPM4; LGP85; CD36L2; HLGP85; LIMP-2; LIMPII; SR-BII
    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]
    Orthologs
    Location:
    4q21.1
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 4 NC_000004.12 (76158737..76213899, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (77079890..77135052, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene ADP-ribosyltransferase 3 Neighboring gene ribosomal protein L36 pseudogene 8 Neighboring gene nucleoporin 54 Neighboring gene uncharacterized LOC105377286 Neighboring gene family with sequence similarity 47 member E Neighboring gene FAM47E-STBD1 readthrough Neighboring gene starch binding domain 1

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Epilepsy, progressive myoclonic 4, with or without renal failure
    MedGen: C0751779 OMIM: 254900 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated (2012-07-06)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated (2012-07-06)

    ClinGen Genome Curation Page

    NHGRI GWAS Catalog

    Description
    Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.
    NHGRI GWA Catalog
    Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Vpr vpr A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies downregulation of scavenger receptor class B, member 2 (SCARB2) expression by HIV-1 Vpr in Vpr transduced macrophages PubMed

    Go to the HIV-1, Human Interaction Database

    • Lysosome, organism-specific biosystem (from KEGG)
      Lysosome, organism-specific biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
    • Lysosome, conserved biosystem (from KEGG)
      Lysosome, conserved biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enzyme binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    virus receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    protein targeting to lysosome IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    viral entry into host cell IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    focal adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    lysosomal lumen ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    lysosomal membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    lysosomal membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    lysosome membrane protein 2
    Names
    85 kDa lysosomal membrane sialoglycoprotein
    85 kDa lysosomal sialoglycoprotein scavenger receptor class B, member 2
    CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 2 (lysosomal integral membrane protein II)
    CD36 antigen-like 2
    LIMP II
    lysosome membrane protein II
    scavenger receptor class B, member 2

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012054.1 RefSeqGene

      Range
      4984..60146
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001204255.1NP_001191184.1  lysosome membrane protein 2 isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks three consecutive exons in the CDS, as compared to variant 1. The reading frame is not affected and the resulting isoform (2) lacks an internal segment, as compared to isoform 1.
      Source sequence(s)
      AC034139, AC110795, AK296519, AK313016
      Consensus CDS
      CCDS56335.1
      UniProtKB/Swiss-Prot
      Q14108
      Related
      ENSP00000399154, OTTHUMP00000219176, ENST00000452464, OTTHUMT00000362702
      Conserved Domains (1) summary
      pfam01130
      Location:28312
      CD36; CD36 family
    2. NM_005506.3NP_005497.1  lysosome membrane protein 2 isoform 1 precursor

      See identical proteins and their annotated locations for NP_005497.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC034139, AC110795, AK313016, BC035111
      Consensus CDS
      CCDS3577.1
      UniProtKB/Swiss-Prot
      Q14108
      UniProtKB/TrEMBL
      A0A024RDG6
      Related
      ENSP00000264896, OTTHUMP00000160590, ENST00000264896, OTTHUMT00000252403
      Conserved Domains (1) summary
      pfam01130
      Location:28459
      CD36; CD36 family

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p7 Primary Assembly

      Range
      76158737..76213899 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018915.2 Alternate CHM1_1.1

      Range
      77056276..77111407 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)