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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SCARB2 Gene

protein-coding   GIFtS: 63
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
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Scavenger Receptor Class B, Member 21 2     AMRF2 5
CD36L21 2 3 5     85 KDa Lysosomal Sialoglycoprotein Scavenger Receptor Class B, Member 22
LIMPII2 3 5     EPM42
CD36 Antigen (Collagen Type I Receptor, Thrombospondin Receptor)-Like 2
(Lysosomal Integral Membrane Protein II)1 2
     HLGP852
Lysosome Membrane Protein II2 3     LIMP-22
85 KDa Lysosomal Membrane Sialoglycoprotein2 3     SR-BII2
LGP852 3     Lysosome Membrane Protein 22
CD36 Antigen-Like 22 3     CD36 Antigen3
LIMP II2 3     Scavenger Receptor Class B Member 23

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 mouth disease, and action myoclonus-renal failure syndrome. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NC_018915.2  NT_016354.19  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for SCARB2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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 (via the coiled-coil domain)
Subcellular location: Lysosome membrane; Multi-pass membrane protein
Mass spectrometry: Mass=54158.97; Method=MALDI; Range=2-478; Source=PubMed:11840567;
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q14108

  • SCARB2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SCARB2 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001191184.1  NP_005497.1  

    ENSEMBL proteins: 
     ENSP00000264896   ENSP00000399154   ENSP00000420988  

    Human Recombinant Protein Products for SCARB2: 
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    Novus Biologicals SCARB2 Proteins
    Novus Biologicals SCARB2 Lysates
    Sino Biological Recombinant Protein for SCARB2
    Sino Biological Cell Lysate for SCARB2 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SCARB2 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

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

    SCARB2 for ontologies           About GeneDecksing



    SCARB2 Antibody Products: 
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    Cloud-Clone Corp. CLIAs for SCARB2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    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  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 - Custom generated mouse model solutions for SCARB2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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 

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    Gene Editing
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SCARB2


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    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

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SCARB2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    5/43 Interacting proteins for SCARB2 (Q141081, 2, 3 ENSP000002648964) via UniProtKB, MINT, STRING, and/or I2D (see all 43)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PLCG1P191742, 3, ENSP000002440074MINT-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 (GO ID links to tree view):    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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SCARB2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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)

    Search CenterWatch for drugs/clinical trials and news about SCARB2 / SCRB2

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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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    8/44 QIAGEN miScript miRNA 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
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SCARB2
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    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 

    24/571 AceView cDNA sequences (see all 571):

    AA056647 AA318730 AI208222 AA316741 BM676119 AA576723 CR621934 AA040586 
    CD369192 AA369059 AA908848 N75836 AA243728 AW341825 CA943610 CA412276 
    AI421904 BM971835 CR593966 AW006038 CA417947 AU120151 BM760478 BQ900188 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SCARB2 expression in normal human tissues (normalized intensities)      SCARB2 embryonic expression: see
    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 
     5/33 selected tissues (see all 33) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Cerebral Cortex
             optic nerve head astrocytes   
     
     Testis (Reproductive System)    fully expand to see all 5 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 4 entries
             colon ; peripheral nerve/ganglion   

    See SCARB2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SCARB2

    SOURCE GeneReport for Unigene cluster: Hs.349656
        SABiosciences Custom PCR Arrays for SCARB2
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    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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for SCARB2 gene from 7/15 species (see all 15)    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_420593.3  XP_420593.1 
    lizard
    (Anolis carolinensis)
    Reptilia SCARB26
    Uncharacterized protein
    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 CG27366
    --
    22(a)
    possible ortholog
    2R(20860954-20862894)
    worm
    (Caenorhabditis elegans)
    Secernentea scav-36
    scav-26
    (see all 6)
    Protein SCAV-2
    (see all 6)
    23(a)
    22(a)
    (see all 6)
    possible ortholog
    possible ortholog
    (see all 6)
    III(12453588-12456852)
    III(13551182-13555334)


    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)
    About This Section
    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1258 SNPs in SCARB2 are shown (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--------
    VAR_0667454
    ----see VAR_0667452 E G 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

    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
    SABiosciences Cancer Mutation 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.)
    About This Section
    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

  • 20/32 diseases for SCARB2 (see all 32):    About MalaCards
    mouth disease    action myoclonus-renal failure syndrome    hand, foot and mouth disease    myoclonus
    protein s deficiency    myoclonus epilepsy    progressive myoclonus epilepsy    peripheral neuropathy
    batten disease    gaucher's disease    neuropathy    nephrotic syndrome
    choriocarcinoma    choroiditis    acute lymphoblastic leukemia    dementia
    lymphoblastic leukemia    parkinson's disease    oral squamous cell carcinoma    atherosclerosis

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

    SCARB2 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    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)
    About This Section

    PubMed articles for SCARB2 gene, integrated from 9 sources (see all 154):
    (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. (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. (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. (1994)
    4. A mutation in SCARB2 is a modifier in Gaucher disease. (PubMed id 21796727)1, 2 Velayati A....Sidransky E. (2011)
    5. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    6. Physiogenomic analysis of statin-treated patients: do main-specific counter effects within the ACACB gene on low-density lipoprotein cholesterol? (PubMed id 20602615)1, 4 RuaA+o G....Wu A.H. (2010)
    7. Physiogenomic comparison of edema and BMI in patients receiving rosiglitazone or pioglitazone. (PubMed id 18996102)1, 4 RuaA+o G....Hanks S. (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. (2008)
    9. Integral and associated lysosomal membrane proteins. (PubMed id 17897319)1, 2 Schroeder B.... Hasilik A. (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. (2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 950 HGNC: 1665 AceView: SCARB2 Ensembl:ENSG00000138760 euGenes: HUgn950
    ECgene: SCARB2 Kegg: 950 H-InvDB: SCARB2

    (According to HUGE)
    About This Section
      --

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