Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Orphanet	Ensembl
	HGNC	UniGene	Nucleotide	OMIM		UCSC

Home Page

FLASH GENE

Symbol

SCARB2

contributors: mct/npt/pgu - updated : 02-06-2014

HGNC name	scavenger receptor class B, member 2
HGNC id	1665

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	AMRF action myoclonus-renal failure syndrome
Location	4q21.1      Physical location : 77.079.893 - 77.135.035
Synonym name	lysosomal membrane protein 2
	CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 2
	85 kDa lysosomal sialoglycoprotein scavenger receptor class B, member 2
	scavenger receptor BII
	lysosomal integral membrane protein 2
	CD36 antigen-like 2
Synonym symbol(s)	CD36L2, HLGP85, LIMP-2, SR-BII, LIMP2, AMRF, LIMPII

DNA

TYPE	functioning gene
STRUCTURE	55.14 kb     12 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_005506 12 - 4748 NP_005497 55 478 - 2007 18022370

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive esophagus       highly Endocrine adrenal gland       highly Lymphoid/Immune lymph node           thymus         Nervous brain diencephalon amygdala       nerve spinal nerve sciatic     Respiratory respiratory tract trachea     highly Visual eye       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial barrier/lining retinal pigment epithelium (RPE)     Nervous central       Nervous peripherous

cells

System Cell Pubmed Species Stage Rna symbol Lymphoid/Immune lymphocyte

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	dileucine motif within the C-teminal cytoplasmic tail
	putative signalling motifs
	luminal domains that possess coiled-coil domains, which have the potential to oligomerize in a pH-dependent manner

conjugated

GlycoP

HOMOLOGY

Homologene

FAMILY

CD36 family

CATEGORY

antigen

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,lysosome
text	type 3 membrane protein

basic FUNCTION	collagen type I receptor, thrombospondin receptor
	playing a role in photoreceptor outer segment lipid binding and uptake by RPE cells in the eye
	mediates HDL endocytosis through aclathrin-dependent, caveolae-independent pathway
	lysosomal-membrane protein, that may participate in membrane transportation and the reorganization of endosomal/lysosomal compartment
	may have a role in physiological autophagy
	playing a role as the mannose-6-phosphate-independent trafficking receptor for beta-glucocerebrosidase
	plays a role of such a modifier in certain types of Gaucher disease

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	bound the SH3 domain of phospholipase C-gamma1
	specific binding partner of beta-glucocerebrosidase
	receptor for the mannose-6-phosphate (M6P) independent transport of beta-glucocerebrosidase (GBA) to the lysosome
	SCARB2 is capable of viral binding, viral internalization, and viral uncoating
	lysosomal activity of GBA is tightly linked to expression of its trafficking receptor, SCARB2

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

AMRF

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	Scarb2 deficient mice showed intracellular inclusions in cerebral and cerebellar cortex, glomerular changes and ataxia
	in Limp-2-deficient mic, an Snca dosage-dependent phenotype, including severe neurological impairments and premature death