Q14108 (SCRB2_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 126.
History...
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Lysosome membrane protein 2 Alternative name(s): 85 kDa lysosomal membrane sialoglycoprotein Short name=LGP85 CD36 antigen-like 2 Lysosome membrane protein II Short name=LIMP II Scavenger receptor class B member 2 CD_antigen=CD36 | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) [Reference 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 | Acts as a lysosomal receptor for glucosylceramidase (GBA) targeting. Ref.11 |
| Subunit structure | Interacts with GBA (via the coiled-coil domain). Ref.11 |
| Subcellular location | Lysosome membrane; Multi-pass membrane protein Ref.11 Ref.12. |
| Involvement in disease | 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. Genetic variants in SCARB2 can act as modifier of the phenotypic expression and severity of Gaucher disease. Ref.18 |
| Sequence similarities | Belongs to the CD36 family. |
| Mass spectrometry | Molecular mass is 54158.97 Da from positions 2 - 478. Determined by MALDI. Ref.9 |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Lysosome Membrane |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Disease | Disease mutation Epilepsy |
| Domain | Coiled coil Transmembrane Transmembrane helix |
| Molecular function | Receptor |
| PTM | Glycoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | cell adhesion Inferred from electronic annotation. Source: InterPro protein targeting to lysosomeInferred from mutant phenotype Ref.11. Source: BHF-UCL |
| Cellular_component | integral to plasma membrane Traceable author statement Ref.1. Source: ProtInc lysosomal lumenInferred from sequence or structural similarity Ref.11. Source: BHF-UCL lysosomal membraneInferred from sequence or structural similarity Ref.11. Source: BHF-UCL |
| Molecular_function | receptor activity Inferred from electronic annotation. Source: InterPro |
| Complete GO annotation... | |
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| Gba | P17439 | 1 | EBI-1564650,EBI-1564504 | From a different organism. |
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q14108-1) This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 2 (identifier: Q14108-2) The sequence of this isoform differs from the canonical sequence as follows: 93-235: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Initiator methionine | 1 | 1 | Removed By similarity | ||||||
| Chain | 2 – 478 | 477 | Lysosome membrane protein 2 | PRO_0000144155 | |||||
Regions | |||||||||
| Topological domain | 2 – 4 | 3 | Cytoplasmic Potential | ||||||
| Transmembrane | 5 – 27 | 23 | Helical; Potential | ||||||
| Topological domain | 28 – 433 | 406 | Lumenal Potential | ||||||
| Transmembrane | 434 – 459 | 26 | Helical; Potential | ||||||
| Topological domain | 460 – 478 | 19 | Cytoplasmic Potential | ||||||
| Coiled coil | 150 – 167 | 18 | Ref.11 | ||||||
Amino acid modifications | |||||||||
| Glycosylation | 45 | 1 | N-linked (GlcNAc...) Ref.15 | ||||||
| Glycosylation | 68 | 1 | N-linked (GlcNAc...) Ref.15 | ||||||
| Glycosylation | 105 | 1 | N-linked (GlcNAc...) Ref.15 | ||||||
| Glycosylation | 206 | 1 | N-linked (GlcNAc...) Ref.15 | ||||||
| Glycosylation | 224 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 249 | 1 | N-linked (GlcNAc...) Ref.10 Ref.15 | ||||||
| Glycosylation | 304 | 1 | N-linked (GlcNAc...) Ref.15 | ||||||
| Glycosylation | 325 | 1 | N-linked (GlcNAc...) Ref.15 | ||||||
| Glycosylation | 412 | 1 | N-linked (GlcNAc...) Ref.10 | ||||||
| Glycosylation | 430 | 1 | N-linked (GlcNAc...) Potential | ||||||
Natural variations | |||||||||
| Alternative sequence | 93 – 235 | 143 | Missing in isoform 2. | VSP_044826 | |||||
| Natural variant | 363 | 1 | H → N in EPM4; no renal failure. Ref.19 | VAR_066744 | |||||
| Natural variant | 471 | 1 | E → G May act as a modifier of Gaucher disease. Ref.18 | VAR_066745 | |||||
Experimental info | |||||||||
| Mutagenesis | 475 | 1 | L → A, G, D or V: Prevents the targeting of the protein to lysosomes. Ref.8 | ||||||
| Mutagenesis | 475 | 1 | L → I: Some loss in the efficiency of targeting of the protein to lysosomes. Ref.8 | ||||||
| Mutagenesis | 476 | 1 | I → A or V: Does not prevent the targeting of the protein to lysosomes completely. Ref.8 | ||||||
| Mutagenesis | 476 | 1 | I → D, E or G: Prevents the targeting of the protein to lysosomes. Ref.8 | ||||||
| Mutagenesis | 476 | 1 | I → L: Normal targeting of the protein to lysosomes. Ref.8 | ||||||
| Mutagenesis | 477 | 1 | R → A, E, G, K or Q: Normal targeting of the protein to lysosomes. Ref.8 | ||||||
| Mutagenesis | 478 | 1 | T → G, I, S or V: Normal targeting of the protein to lysosomes. Ref.8 | ||||||
| Sequence conflict | 351 | 1 | S → P in BAG59150. Ref.4 | ||||||
Sequences
| ||||||||||||||||||||||||
References
| « Hide '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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). |
| [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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). |
| [3] | "Cloning of human full-length CDSs in BD Creator(TM) system donor vector." Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A. Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). |
| [4] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2). Tissue: Cerebellum and Thalamus. |
| [5] | "Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. Wilson R.K.Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [6] | Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [7] | "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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Eye. |
| [8] | "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] [Europe PMC] [Abstract] Cited for: MUTAGENESIS OF LEU-475; ILE-476; ARG-477 AND THR-478. |
| [9] | "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] [Europe PMC] [Abstract] Cited for: MASS SPECTROMETRY. Tissue: Mammary cancer. |
| [10] | "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] [Europe PMC] [Abstract] Cited for: GLYCOSYLATION AT ASN-249 AND ASN-412. |
| [11] | "LIMP-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of beta-glucocerebrosidase." Reczek D., Schwake M., Schroder J., Hughes H., Blanz J., Jin X., Brondyk W., Van Patten S., Edmunds T., Saftig P. Cell 131:770-783(2007) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION, COILED-COIL DOMAIN, INTERACTION WITH GBA. |
| [12] | "Integral and associated lysosomal membrane proteins." Schroeder B., Wrocklage C., Pan C., Jaeger R., Koesters B., Schaefer H., Elsaesser H.-P., Mann M., Hasilik A. Traffic 8:1676-1686(2007) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY. Tissue: Placenta. |
| [13] | "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. Bahlo M.Am. J. Hum. Genet. 82:673-684(2008) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN EPM4. |
| [14] | "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] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN EPM4. |
| [15] | "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] [Europe PMC] [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. |
| [16] | "Mutation of SCARB2 in a patient with progressive myoclonus epilepsy and demyelinating peripheral neuropathy." Dibbens L.M., Karakis I., Bayly M.A., Costello D.J., Cole A.J., Berkovic S.F. Arch. Neurol. 68:812-813(2011) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN EPM4. |
| [17] | "Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. |
| [18] | "A mutation in SCARB2 is a modifier in Gaucher disease." Velayati A., DePaolo J., Gupta N., Choi J.H., Moaven N., Westbroek W., Goker-Alpan O., Goldin E., Stubblefield B.K., Kolodny E., Tayebi N., Sidransky E. Hum. Mutat. 32:1232-1238(2011) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN GAUCHER DISEASE AS MODIFIER GENE, VARIANT GLY-471. |
| [19] | "Biochemical and molecular findings in a patient with myoclonic epilepsy due to a mistarget of the beta-glucosidase enzyme." Dardis A., Filocamo M., Grossi S., Ciana G., Franceschetti S., Dominissini S., Rubboli G., Di Rocco M., Bembi B. Mol. Genet. Metab. 97:309-311(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT EPM4 ASN-363. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | D12676 mRNA. Translation: BAA02177.1. BT006939 mRNA. Translation: AAP35585.1. AK296519 mRNA. Translation: BAG59150.1. AK313016 mRNA. Translation: BAG35851.1. AC034139 Genomic DNA. No translation available. AC110795 Genomic DNA. No translation available. CH471057 Genomic DNA. Translation: EAX05779.1. BC021892 mRNA. Translation: AAH21892.1. |
| IPI | IPI00217766. IPI00909338. |
| PIR | A56525. |
| RefSeq | NP_001191184.1. NM_001204255.1. NP_005497.1. NM_005506.3. |
| UniGene | Hs.349656. Hs.714206. |
3D structure databases | |
| ProteinModelPortal | Q14108. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q14108. 5 interactions. |
| MINT | MINT-4054592. |
| STRING | 9606.ENSP00000264896. |
PTM databases | |
| PhosphoSite | Q14108. |
Polymorphism databases | |
| DMDM | 2498525. |
Proteomic databases | |
| PaxDb | Q14108. |
| PeptideAtlas | Q14108. |
| PRIDE | Q14108. |
Protocols and materials databases | |
| DNASU | 950. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000264896; ENSP00000264896; ENSG00000138760. ENST00000452464; ENSP00000399154; ENSG00000138760. |
| GeneID | 950. |
| KEGG | hsa:950. |
| UCSC | uc003hju.2. human. |
Organism-specific databases | |
| CTD | 950. |
| GeneCards | GC04M077079. |
| HGNC | HGNC:1665. SCARB2. |
| HPA | CAB015415. HPA018014. |
| MIM | 254900. phenotype. 602257. gene. |
| neXtProt | NX_Q14108. |
| Orphanet | 163696. Action myoclonus - renal failure syndrome. 77259. Gaucher disease type 1. 308. Unverricht-Lundborg disease. |
| PharmGKB | PA35038. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG257244. |
| HOGENOM | HOG000252951. |
| HOVERGEN | HBG106707. |
| InParanoid | Q14108. |
| KO | K12384. |
| OMA | LNESVHI. |
| OrthoDB | EOG4CJVHB. |
| PhylomeDB | Q14108. |
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. PTHR11923. 1 hit. |
| Pfam | PF01130. CD36. 1 hit. [Graphical view] |
| PRINTS | PR01609. CD36FAMILY. PR01611. LIMPII. |
| ProtoNet | Search... |
Other | |
| ChiTaRS | SCARB2. human. |
| GenomeRNAi | 950. |
| NextBio | 3952. |
| SOURCE | Search... |
Entry information
| Entry name | SCRB2_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q14108 Secondary accession number(s): B4DKD8, E7EM68, Q53Y63 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| 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. | ||||||||
Relevant documents
| Human chromosome 4 Human chromosome 4: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
