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SCARB2 Gene

protein-coding   GIFtS: 64
GCID: GC04M077079

Scavenger Receptor Class B, Member 2

(Previous names: CD36 antigen (collagen type I receptor, thrombospondin receptor)-like...)
(Previous symbol: CD36L2)
Microbiology & Infectious Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Scavenger Receptor Class B, Member 21 2     EPM42 5
CD36L21 2 3 5     85 KDa Lysosomal Sialoglycoprotein Scavenger Receptor Class B, Member 22
LIMPII2 3 5     HLGP852
CD36 Antigen (Collagen Type I Receptor, Thrombospondin Receptor)-Like 2
(Lysosomal Integral Membrane Protein II)1 2
     LIMP-22
Lysosome Membrane Protein II2 3     SR-BII2
85 KDa Lysosomal Membrane Sialoglycoprotein2 3     Lysosome Membrane Protein 22
LGP852 3     LIMP23
CD36 Antigen-Like 22 3     CD36 Antigen3
LIMP II2 3     Scavenger Receptor Class B Member 23
AMRF2 5     

External Ids:    HGNC: 16651   Entrez Gene: 9502   Ensembl: ENSG000001387607   OMIM: 6022575   UniProtKB: Q141083   

Export aliases for SCARB2 gene to outside databases

Previous GC identifers: GC04M076978 GC04M077272 GC04M077472 GC04M077540 GC04M077538 GC04M077437 GC04M077298 GC04M072831


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SCARB2 Gene:
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)

GeneCards Summary for SCARB2 Gene:
SCARB2 (scavenger receptor class B, member 2) is a protein-coding gene. Diseases associated with SCARB2 include epilepsy, progressive myoclonic 4, with or without renal failure, and mouth disease. GO annotations related to this gene include receptor activity and enzyme binding. An important paralog of this gene is SCARB1.

UniProtKB/Swiss-Prot: SCRB2_HUMAN, Q14108
Function: Acts as a lysosomal receptor for glucosylceramidase (GBA) targeting

Gene Wiki entry for SCARB2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000004.12  NC_018915.2  NT_016354.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the SCARB2 gene promoter:
         NF-1   AP-2alpha isoform 3   AP-1   ATF-2   AP-2alpha isoform 2   PPAR-gamma1   AP-2alpha isoform 4   c-Jun   PPAR-gamma2   AP-2alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSCARB2 promoter sequence
   Search Chromatin IP Primers for SCARB2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SCARB2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4q21.1   Ensembl cytogenetic band:  4q21.1   HGNC cytogenetic band: 4q21.1

SCARB2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SCARB2 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M077079:  view genomic region     (about GC identifiers)

Start:
77,079,890 bp from pter      End:
77,135,052 bp from pter
Size:
55,163 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: SCRB2_HUMAN, Q14108 (See protein sequence)
Recommended Name: Lysosome membrane protein 2  
Size: 478 amino acids; 54290 Da
Subunit: Interacts with GBA
Mass spectrometry: Mass=54158.97; Method=MALDI; Range=2-478; Source=PubMed:11840567;
1 PDB 3D structure from and Proteopedia for SCARB2:
4F7B (3D)    
Secondary accessions: B4DKD8 E7EM68 Q53Y63
Alternative splicing: 2 isoforms:  Q14108-1   Q14108-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SCARB2: NX_Q14108

Explore proteomics data for SCARB2 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn45, Asn68, Asn105, Asn206, Asn224, Asn249, Asn304, Asn325, Asn412, Asn430
  • Modification sites at PhosphoSitePlus

  • See SCARB2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001191184.1  NP_005497.1  

    ENSEMBL proteins: 
     ENSP00000264896   ENSP00000399154   ENSP00000420988  

    SCARB2 Human Recombinant Protein Products:

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    Sino Biological Recombinant Protein for SCARB2
    Sino Biological Cell Lysate for SCARB2
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    SCARB2 Antibody Products:

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    ThermoFisher Antibody for SCARB2
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    SCARB2 Assay Products:

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    Cloud-Clone Corp. ELISAs for SCARB2
    Cloud-Clone Corp. CLIAs for SCARB2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR005429 LimpII
     IPR002159 CD36

    Graphical View of Domain Structure for InterPro Entry Q14108

    ProtoNet protein and cluster: Q14108

    2 Blocks protein domains:
    IPB002159 Adhesion molecule CD36 family signature
    IPB005429 Lysosome membrane protein II (LIMP II) signature


    UniProtKB/Swiss-Prot: SCRB2_HUMAN, Q14108
    Similarity: Belongs to the CD36 family


    SCARB2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SCRB2_HUMAN, Q14108
    Function: Acts as a lysosomal receptor for glucosylceramidase (GBA) targeting

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004872receptor activity IEA--
    GO:0005515protein binding IPI14570588
    GO:0019899enzyme binding IPI18022370
         
    SCARB2 for ontologies           About GeneDecksing


    Phenotypes:
         8 MGI mutant phenotypes (inferred from 1 allele(MGI details for Scarb2):
     behavior/neurological  cardiovascular system  growth/size/body  hearing/vestibular/ear  homeostasis/metabolism 
     mortality/aging  nervous system  renal/urinary system 

    SCARB2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Scarb2tm1Psa for SCARB2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SCARB2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SCARB2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SCARB2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SCARB2

    miRNA
    Products:
        
    miRTarBase miRNAs that target SCARB2:
    hsa-mir-365a-3p (MIRT044021), hsa-mir-92a-3p (MIRT049516), hsa-mir-222-3p (MIRT046711), hsa-mir-7-5p (MIRT025719)

    Block miRNA regulation of human, mouse, rat SCARB2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SCARB2 (see all 44):
    hsa-miR-300 hsa-miR-513a-5p hsa-miR-548k hsa-miR-1245 hsa-miR-200a hsa-miR-4305 hsa-miR-219-5p hsa-miR-508-3p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat SCARB2

    Gene Editing
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    Clone
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    OriGene clones in human, mouse for SCARB2 (see all 7)
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): SCARB2 (NM_005506)
    Sino Biological Human cDNA Clone for SCARB2
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SCARB2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SCARB2

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SCARB2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SCRB2_HUMAN, Q14108: Lysosome membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    lysosome5
    vacuole5
    plasma membrane4
    extracellular3
    cytoskeleton2
    endoplasmic reticulum2
    endosome2
    mitochondrion2
    nucleus2
    peroxisome2
    cytosol1
    golgi apparatus1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005764lysosome ----
    GO:0005765lysosomal membrane ISS18022370
    GO:0005887integral component of plasma membrane ----
    GO:0016020membrane TAS1374238
    GO:0016021integral component of membrane IEA--

    SCARB2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for SCARB2 About    
    See pathways by source

    SuperPathContained pathways About
    1Lysosome
    Lysosome

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways




    1 Kegg Pathway  (Kegg details for SCARB2):
        Lysosome


    SCARB2 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SCARB2
    Interactions:

        GeneGlobe Interaction Network for SCARB2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    Selected Interacting proteins for SCARB2 (Q141081, 2, 3 ENSP000002648964) via UniProtKB, MINT, STRING, and/or I2D (see all 43)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PLCG1P191741, 2, 3, ENSP000002440074EBI-1564650,EBI-79387 MINT-7309951 MINT-7309916 I2D: score=1 STRING: ENSP00000244007
    CAV1Q031352, 3, ENSP000003391914MINT-7309906 I2D: score=1 STRING: ENSP00000339191
    CSKP412402, 3, ENSP000002200034MINT-7309937 I2D: score=1 STRING: ENSP00000220003
    GBAP040622, 3, ENSP000003145084MINT-4054731 I2D: score=1 STRING: ENSP00000314508
    AP3S1Q925723, ENSP000003253694I2D: score=2 STRING: ENSP00000325369
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006622protein targeting to lysosome IMP18022370
    GO:0007155cell adhesion IEA--

    SCARB2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SCARB2 (SCRB2)

    9 Novoseek inferred chemical compound relationships for SCARB2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    u18666a 67.3 1 14733906 (1)
    phosphoramidon 57.6 1 8615890 (1)
    leucine 31.7 6 12370188 (2), 10985965 (1)
    cholesterol 30.8 10 14570588 (5), 9614139 (2), 12356916 (1), 15114099 (1) (see all 5)
    zinc 17.9 2 10620363 (1), 9177475 (1)
    lipid 9.55 3 9614139 (2), 17967141 (1)
    tacrolimus 2.8 1 15114099 (1)
    alanine 0 1 10753663 (1)
    polysaccharide 0 1 1560026 (1)



    SCARB2 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SCARB2 gene (2 alternative transcripts): 
    NM_001204255.1  NM_005506.3  

    Unigene Cluster for SCARB2:

    Scavenger receptor class B, member 2
    Hs.349656  [show with all ESTs]
    Unigene Representative Sequence: NM_005506
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000264896(uc003hju.2 uc011cbu.2) ENST00000452464 ENST00000511129
    ENST00000502908 ENST00000509994
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    Block miRNA regulation of human, mouse, rat SCARB2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SCARB2 (see all 44):
    hsa-miR-300 hsa-miR-513a-5p hsa-miR-548k hsa-miR-1245 hsa-miR-200a hsa-miR-4305 hsa-miR-219-5p hsa-miR-508-3p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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      QuantiTect SYBR Green Assays in human, mouse, rat SCARB2
      QuantiFast Probe-based Assays in human, mouse, rat SCARB2

    Additional mRNA sequence: 

    AK056001.1 AK296519.1 AK313016.1 BC021892.1 BC035111.1 BT006939.1 D12676.1 

    20 DOTS entries:

    DT.100686283  DT.456246  DT.100886539  DT.100886545  DT.121235180  DT.100046105  DT.95069189  DT.121235207 
    DT.100886544  DT.100886555  DT.121235213  DT.100716407  DT.121235228  DT.99971108  DT.121235206  DT.121235208 
    DT.92442764  DT.95136807  DT.95159015  DT.40217279 

    Selected AceView cDNA sequences (see all 571):

    AA587281 BX485767 BP351641 AA361420 BM473544 CA417917 BM997057 BE552003 
    AI038039 AA479122 CN481946 AI911851 BG682287 CA434973 CB851965 BQ575359 
    AI828900 BG213797 BM975174 AW006644 AV709910 AI066552 AA576723 F01828 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for SCARB2    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b · 13c
    SP1:                          -           -                                                                     
    SP2:                                                                                                            
    SP3:                                                                                            -               
    SP4:                          -                                                                                 


    ECgene alternative splicing isoforms for SCARB2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SCARB2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTATTTCTA
    SCARB2 Expression
    About this image


    SCARB2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 20) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             Pre-Sertoli Cells Testis Cord
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
    SCARB2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SCARB2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.349656
        Custom PCR Arrays for SCARB2
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    QuantiFast Probe-based Assays in human, mouse, rat SCARB2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SCARB2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for SCARB2 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Scarb21 , 5 scavenger receptor class B, member 21, 5 84.52(n)1
    85.77(a)1
      5 (46.82 cM)5
    124921  NM_007644.31  NP_031670.11 
     924438735 
    chicken
    (Gallus gallus)
    Aves SCARB21 scavenger receptor class B, member 2 65.9(n)
    59.62(a)
      422638  XM_420593.4  XP_420593.1 
    lizard
    (Anolis carolinensis)
    Reptilia SCARB26
    scavenger receptor class B, member 2
    53(a)
    1 ↔ 1
    5(146877521-146906506)
    African clawed frog
    (Xenopus laevis)
    Amphibia cd36l2-prov2 CD36 antigen (collagen type I receptor, thrombospondin more 74.15(n)    BC045028.1 
    zebrafish
    (Danio rerio)
    Actinopterygii cd36l22 CD36 antigen (collagen type I receptor, thrombospondin more 75.09(n)   192340  AY099528.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta emp1 epithelial membrane protein 47.36(n)
    37.21(a)
      37999  NM_166702.2  NP_726504.2 
    worm
    (Caenorhabditis elegans)
    Secernentea scav-16
    scav-26
    Protein SCAV-2 (scav-2) mRNA, complete cds
    23(a)
    23(a)
    many ↔ many
    many ↔ many
    X(5397676-5400584) WBGene00015389
    III(13550699-13555334) WBGene00013578


    ENSEMBL Gene Tree for SCARB2 (if available)
    TreeFam Gene Tree for SCARB2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SCARB2 gene
    SCARB12  CD362  
    2 SIMAP similar genes for SCARB2 using alignment to 3 protein entries:     SCRB2_HUMAN (see all proteins):
    SCARB1    CD36

    SCARB2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SCARB2 (see all 1258)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0667444
    Epilepsy, progressive myoclonic 4, with or without renal failure (EPM4)4--see VAR_0667442 H N mis40--------
    rs340063531,2
    C--72835595(+) AAAAA-/AGGAAG 2 -- int10--------
    rs796514491,2
    C--72838940(+) CTGCG-/TTTTTT 2 -- int10--------
    rs32174981,2
    C--72842517(-) CACAC-/ATAT/ATATGTGT/ATATGTGTGT/ATATGTGT
    GTGTGT
    /ATATGTGTGTGTGTGT/GTGT/TGTGTGT
    GTGTG
    2 -- int10--------
    rs1138482391,2
    C--72843210(+) ATCTAAGCTG/
            
    AGCTG
    2 -- int11Minor allele frequency- -:0.50CSA 2
    rs2010769251,2
    C--72843214(+) AAGCTA/GAGCTG 2 -- int10--------
    rs748190381,2
    C--72845154(+) CATGA-/GTGTGTG 2 -- int10--------
    rs30645661,2
    C,F--72846514(+) TTAGC-/T/T   
       T
    /TTT
    TTTTT
    4 -- int1 cds12NA CSA 4
    rs1118619871,2
    C--72848258(+) GGTTGT/-TGAAT 2 -- int11Minor allele frequency- -:0.50CSA 2
    rs802160711,2
    C--72850207(+) AACCCT/-AACTG 2 -- int11Minor allele frequency- -:0.50CSA 2

    HapMap Linkage Disequilibrium report for SCARB2 (77079890 - 77135052 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for SCARB2:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv958e199CNV Deletion23128226
    esv995458CNV Deletion20482838
    nsv818244CNV Loss17921354
    nsv470047CNV Gain18288195
    nsv461558CNV Gain19166990
    nsv7363OTHER Inversion18451855

    Human Gene Mutation Database (HGMD): SCARB2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SCARB2
    DNA2.0 Custom Variant and Variant Library Synthesis for SCARB2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602257   
    OMIM disorders: 254900  
    UniProtKB/Swiss-Prot: SCRB2_HUMAN, Q14108
  • Epilepsy, progressive myoclonic 4, with or without renal failure (EPM4) [MIM:254900]: An autosomal
    recessive progressive myoclonic epilepsy associated with renal failure in some cases. Cognitive function is
    preserved. Myoclonus is a brief, involuntary twitching of a muscle or a group of muscles. Note=The disease is
    caused by mutations affecting the gene represented in this entry
  • Note=Genetic variants in SCARB2 can act as modifier of the phenotypic expression and severity of Gaucher
    disease

  • Selected diseases for SCARB2 (see all 40):    
    About MalaCards
    epilepsy, progressive myoclonic 4, with or without renal failure    mouth disease    hand, foot and mouth disease    gaucher's disease
    epilepsy, progressive myoclonic 1a    myoclonus    protein s deficiency    myoclonus epilepsy
    progressive myoclonus epilepsy    peripheral neuropathy    batten disease    neuropathy
    nephrotic syndrome    choriocarcinoma    choroiditis    oral squamous cell carcinoma
    malaria    parkinson's disease    dementia    lymphoblastic leukemia

    3 diseases from the University of Copenhagen DISEASES database for SCARB2:
    Malaria     Atherosclerosis     Diabetes mellitus

    SCARB2 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    2 Novoseek inferred disease relationships for SCARB2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    necrosis 0 3 7500022 (1), 10533808 (1), 10614784 (1)
    tumors 0 4 7500022 (1), 10533808 (1), 10614784 (1), 11095979 (1)

    Genetic Association Database (GAD): SCARB2
    Human Genome Epidemiology (HuGE) Navigator: SCARB2 (6 documents)

    Export disorders for SCARB2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for SCARB2 gene, integrated from 10 sources (see all 162):
    (articles sorted by number of sources associating them with SCARB2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Isolation and sequencing of a cDNA clone encoding the 85 kDa human lysosomal sialoglycoprotein (hLGP85) in human metastatic pancreas islet tumor cells. (PubMed id 1374238)1, 2, 3, 9 Fujita H....Kato K. (Biochem. Biophys. Res. Commun. 1992)
    2. The CD36, CLA-1 (CD36L1), and LIMPII (CD36L2) gene family: cellular distribution, chromosomal location, and genetic evolution. (PubMed id 7539776)1, 2, 9 Calvo D.... Vega M.A. (Genomics 1995)
    3. The residues Leu(Ile)475-Ile(Leu, Val, Ala)476, contained in the extended carboxyl cytoplasmic tail, are critical for targeting of the resident lysosomal membrane protein LIMP II to lysosomes. (PubMed id 7509809)1, 2, 9 Sandoval I.V.... Rico M. (J. Biol. Chem. 1994)
    4. A mutation in SCARB2 is a modifier in Gaucher disease. (PubMed id 21796727)1, 2 Velayati A....Sidransky E. (Hum. Mutat. 2011)
    5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    6. Physiogenomic analysis of statin-treated patients: domain-specific counter effects within the ACACB gene on low-density lipoprotein cholesterol? (PubMed id 20602615)1, 4 RuaA+o G....Wu A.H. (Pharmacogenomics 2010)
    7. Physiogenomic comparison of edema and BMI in patients receiving rosiglitazone or pioglitazone. (PubMed id 18996102)1, 4 RuaA+o G....Hanks S. ( international journal of clinical chemistry 2009)
    8. Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis. (PubMed id 18308289)1, 2 Berkovic S.F.... Bahlo M. (Am. J. Hum. Genet. 2008)
    9. Integral and associated lysosomal membrane proteins. (PubMed id 17897319)1, 2 Schroeder B.... Hasilik A. (Traffic 2007)
    10. LIMP-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of beta-glucocerebrosidase. (PubMed id 18022370)1, 2 Reczek D.... Saftig P. (Cell 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 950 HGNC: 1665 AceView: SCARB2 Ensembl:ENSG00000138760 euGenes: HUgn950
    ECgene: SCARB2 Kegg: 950 H-InvDB: SCARB2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for SCARB2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SCARB2 gene:
    Search GeneIP for patents involving SCARB2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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