SCARB2
entrez
950
canonical
uniprot
Q14108
canonical
ensembl
ENSG00000138760
resolver
ensp
ENSP00000264896
resolver
ensp
ENSP00000399154
resolver
ensp
ENSP00000492288
resolver
enst
ENST00000638295
resolver
genesymbol
SCARB2
resolver
genesymbol_syn
CD36L2
resolver
genesymbol_syn
LIMP2
resolver
genesymbol_syn
LIMPII
resolver
hgnc
HGNC:1665
resolver
uniprot
A0A1W2PRF6
resolver
uniprot
B4DKD8
resolver
uniprot
E7EM68
resolver
uniprot
Q53Y63
resolver
uniprot_entry
A0A1W2PRF6_HUMAN
resolver
uniprot_entry
SCRB2_HUMAN
resolver
uniprot_sec
B4DKD8
resolver
uniprot_sec
E7EM68
resolver
uniprot_sec
Q53Y63
resolver
amino_acid_sequence
MGRCCFYTAGTLSLLLLVTSVTLLVARVFQKAVDQSIEKKIVLRNGTEAFDSWEKPPLPVYTQFYFFNVTNPEEILRGETPRVEEVGPYTYRELRNKANIQFGDNGTTISAVSNKAYVFERDQSVGDPKIDLIRTLNIPVLTVIEWSQVHFLREIIEAMLKAYQQKLFVTHTVDELLWGYKDEILSLIHVFRPDISPYFGLFYEKNGTNDGDYVFLTGEDSYLNFTKIVEWNGKTSLDWWITDKCNMINGTDGDSFHPLITKDEVLYVFPSDFCRSVYITFSDYESVQGLPAFRYKVPAEILANTSDNAGFCIPEGNCLGSGVLNVSICKNGAPIIMSFPHFYQADERFVSAIEGMHPNQEDHETFVDINPLTGIILKAAKRFQINIYVKKLDDFVETGDIRTMVFPVMYLNESVHIDKETASRLKSMINTTLIITNIPYIIMALGVFFGLVFTWLACKGQGSMDEGTADERAPLIRT
uniprot
proteins
disease_involvement
DISEASE: Epilepsy, progressive myoclonic 4, with or without renal failure (EPM4) [MIM:254900]: A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. EPM4 is an autosomal recessive form associated with renal failure in some cases. Cognitive function is preserved. {ECO:0000269|PubMed:18308289, ECO:0000269|PubMed:18424452, ECO:0000269|PubMed:19454373, ECO:0000269|PubMed:21670406}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Note=Genetic variants in SCARB2 can act as modifier of the phenotypic expression and severity of Gaucher disease. {ECO:0000269|PubMed:21796727}.
uniprot
proteins
function
FUNCTION: Acts as a lysosomal receptor for glucosylceramidase (GBA1) targeting. {ECO:0000269|PubMed:18022370}.; FUNCTION: (Microbial infection) Acts as a receptor for enterovirus 71. {ECO:0000269|PubMed:19543282, ECO:0000269|PubMed:30531980}.
uniprot
proteins
mass_dalton
54290
uniprot
proteins
mutagenesis
MUTAGEN 475; /note="L->A,G,D,V: Prevents the targeting of the protein to lysosomes."; /evidence="ECO:0000269|PubMed:7509809"; MUTAGEN 475; /note="L->I: Some loss in the efficiency of targeting of the protein to lysosomes."; /evidence="ECO:0000269|PubMed:7509809"; MUTAGEN 476; /note="I->A,V: Does not prevent the targeting of the protein to lysosomes completely."; /evidence="ECO:0000269|PubMed:7509809"; MUTAGEN 476; /note="I->D,E,G: Prevents the targeting of the protein to lysosomes."; /evidence="ECO:0000269|PubMed:7509809"; MUTAGEN 476; /note="I->L: Normal targeting of the protein to lysosomes."; /evidence="ECO:0000269|PubMed:7509809"; MUTAGEN 477; /note="R->A,E,G,K,Q: Normal targeting of the protein to lysosomes."; /evidence="ECO:0000269|PubMed:7509809"; MUTAGEN 478; /note="T->G,I,S,V: Normal targeting of the protein to lysosomes."; /evidence="ECO:0000269|PubMed:7509809
uniprot
proteins
protein_family
CD36 family
uniprot
proteins
pubmed
11840567
uniprot
proteins
pubmed
12754519
uniprot
proteins
pubmed
1374238
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
17897319
uniprot
proteins
pubmed
18022370
uniprot
proteins
pubmed
18308289
uniprot
proteins
pubmed
18424452
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
19454373
uniprot
proteins
pubmed
19543282
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21670406
uniprot
proteins
pubmed
21796727
uniprot
proteins
pubmed
24162852
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
30531980
uniprot
proteins
pubmed
7509809
uniprot
proteins
pubmed
7539776
uniprot
proteins
sequence_length
478
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Lysosome membrane {ECO:0000269|PubMed:17897319, ECO:0000269|PubMed:18022370, ECO:0000269|PubMed:7509809}; Multi-pass membrane protein {ECO:0000269|PubMed:17897319, ECO:0000269|PubMed:18022370, ECO:0000269|PubMed:7509809}.
uniprot
proteins
transmembrane_region
TRANSMEM 5..27; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 434..459; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins