Reviewed, UniProtKB/Swiss-Prot Q14108 (SCRB2_HUMAN)

Names and origin

Protein names

Recommended name:
    Lysosome membrane protein 2
Alternative name(s):
    Lysosome membrane protein II
    LIMP II
    Scavenger receptor class B member 2
    85 kDa lysosomal membrane sialoglycoprotein
    LGP85
    CD36 antigen-like 2
    CD_antigen=CD36

Gene names

Name:	SCARB2
Synonyms:	CD36L2, LIMPII

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	478 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	May act as a lysosomal receptor.
Subcellular location	Lysosome membrane; Multi-pass membrane protein.
Involvement in disease	Defects in SCARB2 are the cause of action myoclonus-renal failure syndrome (AMRF) [MIM:254900]; also known as myoclonus-nephropathy syndrome. AMRF is an autosomal recessive progressive myoclonic epilepsy associated with renal failure. Myoclonus is a brief, involuntary twitching of a muscle or a group of muscles. Cognitive function is preserved. Ref.8 Ref.9
Sequence similarities	Belongs to the CD36 family.
Mass spectrometry	Molecular mass is 54158.97 Da from positions 2 - 478. Determined by MALDI. Ref.5

Ontologies

Keywords
Cellular component	Lysosome Membrane
Domain	Transmembrane
Molecular function	Receptor
PTM	Glycoprotein
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	cell adhesion Inferred from electronic annotation. Source: InterPro
Cellular component	integral to plasma membrane Ref.1 Traceable author statement. Source: ProtInc lysosome Inferred from electronic annotation. Source: UniProtKB-KW membrane fraction Ref.1 Traceable author statement. Source: ProtInc
Molecular function	protein binding Inferred from physical interaction. Source: IntAct receptor activity Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
Gba	P17439	1	EBI-1564650,EBI-1564504	From a different organism.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Initiator methionine	1	1	Removed
	Chain	2 – 478	477	Lysosome membrane protein 2		PRO_0000144155
Regions
	Topological domain	2 – 4	3	Cytoplasmic Potential
	Transmembrane	5 – 27	23	Potential
	Topological domain	28 – 433	406	Lumenal Potential
	Transmembrane	434 – 459	26	Potential
	Topological domain	460 – 478	19	Cytoplasmic Potential
Amino acid modifications
	Glycosylation	45	1	N-linked (GlcNAc...) Ref.10
	Glycosylation	68	1	N-linked (GlcNAc...) Ref.10
	Glycosylation	105	1	N-linked (GlcNAc...) Ref.10
	Glycosylation	206	1	N-linked (GlcNAc...) Ref.10
	Glycosylation	224	1	N-linked (GlcNAc...) Potential
	Glycosylation	249	1	N-linked (GlcNAc...) Ref.10 Ref.6
	Glycosylation	304	1	N-linked (GlcNAc...) Ref.10
	Glycosylation	325	1	N-linked (GlcNAc...) Ref.10
	Glycosylation	412	1	N-linked (GlcNAc...) Ref.6
	Glycosylation	430	1	N-linked (GlcNAc...) Potential
Experimental info
	Mutagenesis	475	1	L → A, G, D or V: Prevents the targeting of the protein to lysosomes. Ref.4
	Mutagenesis	475	1	L → I: Some loss in the efficiency of targeting of the protein to lysosomes. Ref.4
	Mutagenesis	476	1	I → A or V: Does not prevent the targeting of the protein to lysosomes completely. Ref.4
	Mutagenesis	476	1	I → D, E or G: Prevents the targeting of the protein to lysosomes. Ref.4
	Mutagenesis	476	1	I → L: Normal targeting of the protein to lysosomes. Ref.4
	Mutagenesis	477	1	R → A, E, G, K or Q: Normal targeting of the protein to lysosomes. Ref.4
	Mutagenesis	478	1	T → G, I, S or V: Normal targeting of the protein to lysosomes. Ref.4

Sequences

	Sequence		Length	Mass (Da)
	Q14108-1 [UniParc]. Last modified January 23, 2007. Version 2. Checksum: FDCF27F3BA337B2C	FASTA	478	54,290
	10 20 30 40 50 60 MGRCCFYTAG TLSLLLLVTS VTLLVARVFQ KAVDQSIEKK IVLRNGTEAF DSWEKPPLPV 70 80 90 100 110 120 YTQFYFFNVT NPEEILRGET PRVEEVGPYT YRELRNKANI QFGDNGTTIS AVSNKAYVFE 130 140 150 160 170 180 RDQSVGDPKI DLIRTLNIPV LTVIEWSQVH FLREIIEAML KAYQQKLFVT HTVDELLWGY 190 200 210 220 230 240 KDEILSLIHV FRPDISPYFG LFYEKNGTND GDYVFLTGED SYLNFTKIVE WNGKTSLDWW 250 260 270 280 290 300 ITDKCNMING TDGDSFHPLI TKDEVLYVFP SDFCRSVYIT FSDYESVQGL PAFRYKVPAE 310 320 330 340 350 360 ILANTSDNAG FCIPEGNCLG SGVLNVSICK NGAPIIMSFP HFYQADERFV SAIEGMHPNQ 370 380 390 400 410 420 EDHETFVDIN PLTGIILKAA KRFQINIYVK KLDDFVETGD IRTMVFPVMY LNESVHIDKE 430 440 450 460 470 TASRLKSMIN TTLIITNIPY IIMALGVFFG LVFTWLACKG QGSMDEGTAD ERAPLIRT

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Isolation and sequencing of a cDNA clone encoding the 85 kDa human lysosomal sialoglycoprotein (hLGP85) in human metastatic pancreas islet tumor cells." Fujita H., Takata Y., Kono A., Tanaka Y., Takahashi T., Himeno M., Kato K. Biochem. Biophys. Res. Commun. 184:604-611(1992) [PubMed: 1374238] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]	"The CD36, CLA-1 (CD36L1), and LIMPII (CD36L2) gene family: cellular distribution, chromosomal location, and genetic evolution." Calvo D., Dopazo J., Vega M.A. Genomics 25:100-106(1995) [PubMed: 7539776] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[3]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Eye.
[4]	"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." Sandoval I.V., Arredondo J.J., Alcalde J., Gonzalez Noriega A., Vandekerckhove J., Jimenez M.A., Rico M. J. Biol. Chem. 269:6622-6631(1994) [PubMed: 7509809] [Abstract] Cited for: MUTAGENESIS OF LEU-475; ILE-476; ARG-477 AND THR-478.
[5]	"Cluster analysis of an extensive human breast cancer cell line protein expression map database." Harris R.A., Yang A., Stein R.C., Lucy K., Brusten L., Herath A., Parekh R., Waterfield M.D., O'Hare M.J., Neville M.A., Page M.J., Zvelebil M.J. Proteomics 2:212-223(2002) [PubMed: 11840567] [Abstract] Cited for: MASS SPECTROMETRY. Tissue: Mammary cancer.
[6]	"Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry." Zhang H., Li X.-J., Martin D.B., Aebersold R. Nat. Biotechnol. 21:660-666(2003) [PubMed: 12754519] [Abstract] Cited for: GLYCOSYLATION AT ASN-249 AND ASN-412.
[7]	Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY.
[8]	"Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis." Berkovic S.F., Dibbens L.M., Oshlack A., Silver J.D., Katerelos M., Vears D.F., Luellmann-Rauch R., Blanz J., Zhang K.W., Stankovich J., Kalnins R.M., Dowling J.P., Andermann E., Andermann F., Faldini E., D'Hooge R., Vadlamudi L., Macdonell R.A. , Hodgson B.L., Bayly M.A., Savige J., Mulley J.C., Smyth G.K., Power D.A., Saftig P., Bahlo M. Am. J. Hum. Genet. 82:673-684(2008) [PubMed: 18308289] [Abstract] Cited for: INVOLVEMENT IN AMRF.
[9]	"A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome." Balreira A., Gaspar P., Caiola D., Chaves J., Beirao I., Lima J.L., Azevedo J.E., Miranda M.C. Hum. Mol. Genet. 17:2238-2243(2008) [PubMed: 18424452] [Abstract] Cited for: INVOLVEMENT IN AMRF.
[10]	"Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry." Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H. J. Proteome Res. 8:651-661(2009) [PubMed: 19159218] [Abstract] Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-45; ASN-68; ASN-105; ASN-206; ASN-249; ASN-304 AND ASN-325, MASS SPECTROMETRY. Tissue: Liver.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBLGenBankDDBJ	D12676 mRNA. Translation: BAA02177.1. BC021892 mRNA. Translation: AAH21892.1.
IPI	IPI00217766.
PIR	A56525.
RefSeq	NP_005497.1.
UniGene	Hs.349656 Hs.714206
3D structure databases
ModBase	Search...
Protein-protein interaction databases
IntAct	Q14108. 1 interaction.
STRING	Q14108.
PTM databases
PhosphoSite	Q14108.
Proteomic databases
PeptideAtlas	Q14108.
PRIDE	Q14108.
Genome annotation databases
Ensembl	ENST00000264896; ENSP00000264896; ENSG00000138760; Homo sapiens. [Genome view]
GeneID	950.
KEGG	hsa:950.
UCSC	uc003hju.1. human.
Organism-specific databases
CTD	950.
GeneCards	GC04M077272.
H-InvDB	HIX0018713.
HGNC	HGNC:1665. SCARB2.
HPA	CAB015415. HPA018014.
MIM	254900. phenotype. 602257. gene.
Orphanet	163696. Action myoclonus - renal failure syndrome. 101974. Severe combined immunodeficiency T- B+.
PharmGKB	PA35038.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	Q14108.
HOVERGEN	Q14108.
OMA	IVEWNGK
OrthoDB	EOG951H9K
Gene expression databases
ArrayExpress	Q14108.
Bgee	Q14108.
CleanEx	HS_SCARB2.
Genevestigator	Q14108.
GermOnline	ENSG00000138760. Homo sapiens.
Family and domain databases
InterPro	IPR002159. CD36. IPR005429. LimpII. [Graphical view]
PANTHER	PTHR11923. CD36. 1 hit.
Pfam	PF01130. CD36. 1 hit. [Graphical view]
PRINTS	PR01609. CD36FAMILY. PR01611. LIMPII.
ProtoNet	Search...
Other Resources
NextBio	3952.
SOURCE	Search...

Entry information

Entry name

SCRB2_HUMAN

Accession

Primary (citable) accession number: Q14108

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1997
Last sequence update:	January 23, 2007
Last modified:	November 24, 2009
This is version 93 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.