Human Gene SCARB2 (ENST00000264896.8_14) from GENCODE V47lift37
  Description: scavenger receptor class B member 2, transcript variant 1 (from RefSeq NM_005506.4)
Gencode Transcript: ENST00000264896.8_14
Gencode Gene: ENSG00000138760.11_17
Transcript (Including UTRs)
   Position: hg19 chr4:77,079,890-77,134,977 Size: 55,088 Total Exon Count: 12 Strand: -
Coding Region
   Position: hg19 chr4:77,082,866-77,134,696 Size: 51,831 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr4:77,079,890-77,134,977)mRNA (may differ from genome)Protein (478 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SCRB2_HUMAN
DESCRIPTION: RecName: Full=Lysosome membrane protein 2; AltName: Full=85 kDa lysosomal membrane sialoglycoprotein; Short=LGP85; AltName: Full=CD36 antigen-like 2; AltName: Full=Lysosome membrane protein II; Short=LIMP II; AltName: Full=Scavenger receptor class B member 2; AltName: CD_antigen=CD36;
FUNCTION: Acts as a lysosomal receptor for glucosylceramidase (GBA) targeting.
SUBUNIT: Interacts with GBA (via the coiled-coil domain).
INTERACTION: P17439:Gba (xeno); NbExp=1; IntAct=EBI-1564650, EBI-1564504;
SUBCELLULAR LOCATION: Lysosome membrane; Multi-pass membrane protein.
MASS SPECTROMETRY: Mass=54158.97; Method=MALDI; Range=2-478; Source=PubMed:11840567;
DISEASE: Defects in SCARB2 are the cause of progressive myoclonic epilepsy type 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. Cognitive function is preserved.
DISEASE: Note=Genetic variants in SCARB2 can act as modifier of the phenotypic expression and severity of Gaucher disease.
SIMILARITY: Belongs to the CD36 family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: SCARB2
Diseases sorted by gene-association score: epilepsy, progressive myoclonic 4, with or without renal failure* (1680), unverricht-lundborg syndrome* (211), hand, foot and mouth disease (27), myoclonus (17), gaucher's disease (17), gaucher disease, type i* (14), mouth disease (12), progressive myoclonus epilepsy (11), epilepsy (7), myoclonus epilepsy (7), herpangina (7), dermatographia (7), sphingolipidosis (5), mucopolysaccharidosis iii (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 69.96 RPKM in Brain - Spinal cord (cervical c-1)
Total median expression: 2018.51 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -151.70281-0.540 Picture PostScript Text
3' UTR -727.702976-0.245 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002159 - CD36
IPR005429 - LimpII

Pfam Domains:
PF01130 - CD36 family

ModBase Predicted Comparative 3D Structure on Q14108
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0001618 virus receptor activity
GO:0004888 transmembrane signaling receptor activity
GO:0005044 scavenger receptor activity
GO:0005515 protein binding
GO:0019899 enzyme binding

Biological Process:
GO:0001508 action potential
GO:0002532 production of molecular mediator involved in inflammatory response
GO:0006622 protein targeting to lysosome
GO:0006631 fatty acid metabolic process
GO:0006898 receptor-mediated endocytosis
GO:0006911 phagocytosis, engulfment
GO:0007165 signal transduction
GO:0010976 positive regulation of neuron projection development
GO:0016032 viral process
GO:0031664 regulation of lipopolysaccharide-mediated signaling pathway
GO:0046718 viral entry into host cell
GO:0061024 membrane organization
GO:1904978 regulation of endosome organization
GO:1905123 regulation of glucosylceramidase activity
GO:1905671 regulation of lysosome organization

Cellular Component:
GO:0000139 Golgi membrane
GO:0005764 lysosome
GO:0005765 lysosomal membrane
GO:0005789 endoplasmic reticulum membrane
GO:0005886 plasma membrane
GO:0005925 focal adhesion
GO:0009986 cell surface
GO:0010008 endosome membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030665 clathrin-coated vesicle membrane
GO:0031902 late endosome membrane
GO:0043202 lysosomal lumen
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  BC035111 - Homo sapiens scavenger receptor class B, member 2, mRNA (cDNA clone IMAGE:5262974).
LF383981 - JP 2014500723-A/191484: Polycomb-Associated Non-Coding RNAs.
AK056001 - Homo sapiens cDNA FLJ31439 fis, clone NT2NE2000707.
JD285592 - Sequence 266616 from Patent EP1572962.
LF358977 - JP 2014500723-A/166480: Polycomb-Associated Non-Coding RNAs.
JD479121 - Sequence 460145 from Patent EP1572962.
LF358978 - JP 2014500723-A/166481: Polycomb-Associated Non-Coding RNAs.
D12676 - Homo sapiens mRNA for 85kDa lysosomal sialoglycoprotein, complete cds.
LF358979 - JP 2014500723-A/166482: Polycomb-Associated Non-Coding RNAs.
JD358629 - Sequence 339653 from Patent EP1572962.
JD083077 - Sequence 64101 from Patent EP1572962.
JD468012 - Sequence 449036 from Patent EP1572962.
AK296519 - Homo sapiens cDNA FLJ51982 complete cds, highly similar to Lysosome membrane protein 2.
JD468043 - Sequence 449067 from Patent EP1572962.
JD241324 - Sequence 222348 from Patent EP1572962.
JD549401 - Sequence 530425 from Patent EP1572962.
BC021892 - Homo sapiens scavenger receptor class B, member 2, mRNA (cDNA clone MGC:9392 IMAGE:3872778), complete cds.
LF358980 - JP 2014500723-A/166483: Polycomb-Associated Non-Coding RNAs.
JD107848 - Sequence 88872 from Patent EP1572962.
JD036529 - Sequence 17553 from Patent EP1572962.
JD521702 - Sequence 502726 from Patent EP1572962.
JD132200 - Sequence 113224 from Patent EP1572962.
JD218767 - Sequence 199791 from Patent EP1572962.
JD157748 - Sequence 138772 from Patent EP1572962.
JD434593 - Sequence 415617 from Patent EP1572962.
LF358981 - JP 2014500723-A/166484: Polycomb-Associated Non-Coding RNAs.
AK313016 - Homo sapiens cDNA, FLJ93482, Homo sapiens scavenger receptor class B, member 2 (SCARB2), mRNA.
BT006939 - Homo sapiens scavenger receptor class B, member 2 mRNA, complete cds.
DQ893535 - Synthetic construct clone IMAGE:100006165; FLH164258.01X; RZPDo839E05162D scavenger receptor class B, member 2 (SCARB2) gene, encodes complete protein.
KJ890863 - Synthetic construct Homo sapiens clone ccsbBroadEn_00257 SCARB2 gene, encodes complete protein.
KR709707 - Synthetic construct Homo sapiens clone CCSBHm_00005308 SCARB2 (SCARB2) mRNA, encodes complete protein.
DQ893757 - Synthetic construct Homo sapiens clone IMAGE:100008217; FLH164254.01L; RZPDo839E05161D scavenger receptor class B, member 2 (SCARB2) gene, encodes complete protein.
AB384843 - Synthetic construct DNA, clone: pF1KB3717, Homo sapiens SCARB2 gene for lysosome membrane protein 2, complete cds, without stop codon, in Flexi system.
LF358983 - JP 2014500723-A/166486: Polycomb-Associated Non-Coding RNAs.
LF358984 - JP 2014500723-A/166487: Polycomb-Associated Non-Coding RNAs.
LF358985 - JP 2014500723-A/166488: Polycomb-Associated Non-Coding RNAs.
AK022432 - Homo sapiens cDNA FLJ12370 fis, clone MAMMA1002428, weakly similar to LYSOSOME MEMBRANE PROTEIN II.
LF358986 - JP 2014500723-A/166489: Polycomb-Associated Non-Coding RNAs.
LF358987 - JP 2014500723-A/166490: Polycomb-Associated Non-Coding RNAs.
CU692412 - Synthetic construct Homo sapiens gateway clone IMAGE:100019592 5' read SCARB2 mRNA.
LF358988 - JP 2014500723-A/166491: Polycomb-Associated Non-Coding RNAs.
LF358990 - JP 2014500723-A/166493: Polycomb-Associated Non-Coding RNAs.
LF358993 - JP 2014500723-A/166496: Polycomb-Associated Non-Coding RNAs.
LF206887 - JP 2014500723-A/14390: Polycomb-Associated Non-Coding RNAs.
LF358997 - JP 2014500723-A/166500: Polycomb-Associated Non-Coding RNAs.
JD337064 - Sequence 318088 from Patent EP1572962.
JD416635 - Sequence 397659 from Patent EP1572962.
LF358998 - JP 2014500723-A/166501: Polycomb-Associated Non-Coding RNAs.
MA619558 - JP 2018138019-A/191484: Polycomb-Associated Non-Coding RNAs.
MA594554 - JP 2018138019-A/166480: Polycomb-Associated Non-Coding RNAs.
MA594555 - JP 2018138019-A/166481: Polycomb-Associated Non-Coding RNAs.
MA594556 - JP 2018138019-A/166482: Polycomb-Associated Non-Coding RNAs.
MA594557 - JP 2018138019-A/166483: Polycomb-Associated Non-Coding RNAs.
MA594558 - JP 2018138019-A/166484: Polycomb-Associated Non-Coding RNAs.
MA594560 - JP 2018138019-A/166486: Polycomb-Associated Non-Coding RNAs.
MA594561 - JP 2018138019-A/166487: Polycomb-Associated Non-Coding RNAs.
MA594562 - JP 2018138019-A/166488: Polycomb-Associated Non-Coding RNAs.
MA594563 - JP 2018138019-A/166489: Polycomb-Associated Non-Coding RNAs.
MA594564 - JP 2018138019-A/166490: Polycomb-Associated Non-Coding RNAs.
MA594565 - JP 2018138019-A/166491: Polycomb-Associated Non-Coding RNAs.
MA594567 - JP 2018138019-A/166493: Polycomb-Associated Non-Coding RNAs.
MA594570 - JP 2018138019-A/166496: Polycomb-Associated Non-Coding RNAs.
MA442464 - JP 2018138019-A/14390: Polycomb-Associated Non-Coding RNAs.
MA594574 - JP 2018138019-A/166500: Polycomb-Associated Non-Coding RNAs.
MA594575 - JP 2018138019-A/166501: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q14108 (Reactome details) participates in the following event(s):

R-HSA-8866277 AP-2 directly binds some endocytic cargo
R-HSA-8867756 CLASP proteins and cargo are recruited to the nascent clathrin-coated pit
R-HSA-8868071 Clathrin recruits PIK3C2A
R-HSA-8868661 Dynamin-mediated GTP hydrolysis promotes vesicle scission
R-HSA-8868648 SYNJ hydrolyze PI(4,5)P2 to PI(4)P
R-HSA-8871194 RAB5 and GAPVD1 bind AP-2
R-HSA-8868658 HSPA8-mediated ATP hydrolysis promotes vesicle uncoating
R-HSA-8868659 Clathrin recruits auxilins to the clathrin-coated vesicle
R-HSA-8868660 Auxilin recruits HSPA8:ATP to the clathrin-coated vesicle
R-HSA-8867754 F- and N- BAR domain proteins bind the clathrin-coated pit
R-HSA-8868230 SNX9 recruits components of the actin polymerizing machinery
R-HSA-8868072 Clathrin-associated PIK3C2A phosphorylates PI(4)P to PI(3,4)P2
R-HSA-8868236 BAR domain proteins recruit dynamin
R-HSA-8868651 Endophilins recruit synaptojanins to the clathrin-coated pit
R-HSA-8856825 Cargo recognition for clathrin-mediated endocytosis
R-HSA-8856828 Clathrin-mediated endocytosis
R-HSA-199991 Membrane Trafficking
R-HSA-5653656 Vesicle-mediated transport

-  Other Names for This Gene
  Alternate Gene Symbols: B4DKD8, CD36L2, E7EM68, ENST00000264896.1, ENST00000264896.2, ENST00000264896.3, ENST00000264896.4, ENST00000264896.5, ENST00000264896.6, ENST00000264896.7, LIMP2, LIMPII, NM_005506, Q14108, Q53Y63, SCRB2_HUMAN, uc317hwm.1, uc317hwm.2
UCSC ID: ENST00000264896.8_14
RefSeq Accession: NM_005506.4
Protein: Q14108 (aka SCRB2_HUMAN or LYII_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene SCARB2:
amrf (SCARB2-Related Action Myoclonus ? Renal Failure Syndrome)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.