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Q14108

- SCRB2_HUMAN

UniProt

Q14108 - SCRB2_HUMAN

Protein

Lysosome membrane protein 2

Gene

SCARB2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 139 (01 Oct 2014)
      Sequence version 2 (23 Jan 2007)
      Previous versions | rss
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    Functioni

    Acts as a lysosomal receptor for glucosylceramidase (GBA) targeting.1 Publication

    GO - Molecular functioni

    1. enzyme binding Source: BHF-UCL
    2. protein binding Source: UniProtKB
    3. receptor activity Source: InterPro

    GO - Biological processi

    1. cell adhesion Source: InterPro
    2. protein targeting to lysosome Source: BHF-UCL

    Keywords - Molecular functioni

    Receptor

    Names & Taxonomyi

    Protein namesi
    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 namesi
    Name:SCARB2
    Synonyms:CD36L2, LIMP2, LIMPII
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 4

    Organism-specific databases

    HGNCiHGNC:1665. SCARB2.

    Subcellular locationi

    Lysosome membrane 3 Publications; Multi-pass membrane protein 3 Publications

    GO - Cellular componenti

    1. extracellular vesicular exosome Source: UniProt
    2. integral component of membrane Source: UniProtKB-KW
    3. lysosomal lumen Source: BHF-UCL
    4. lysosomal membrane Source: UniProtKB
    5. membrane Source: UniProtKB

    Keywords - Cellular componenti

    Lysosome, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    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.4 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti363 – 3631H → N in EPM4; no renal failure. 1 Publication
    VAR_066744
    Genetic variants in SCARB2 can act as modifier of the phenotypic expression and severity of Gaucher disease.1 Publication

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi475 – 4751L → A, G, D or V: Prevents the targeting of the protein to lysosomes. 1 Publication
    Mutagenesisi475 – 4751L → I: Some loss in the efficiency of targeting of the protein to lysosomes. 1 Publication
    Mutagenesisi476 – 4761I → A or V: Does not prevent the targeting of the protein to lysosomes completely. 1 Publication
    Mutagenesisi476 – 4761I → D, E or G: Prevents the targeting of the protein to lysosomes. 1 Publication
    Mutagenesisi476 – 4761I → L: Normal targeting of the protein to lysosomes. 1 Publication
    Mutagenesisi477 – 4771R → A, E, G, K or Q: Normal targeting of the protein to lysosomes. 1 Publication
    Mutagenesisi478 – 4781T → G, I, S or V: Normal targeting of the protein to lysosomes. 1 Publication

    Keywords - Diseasei

    Disease mutation, Epilepsy

    Organism-specific databases

    MIMi254900. phenotype.
    Orphaneti163696. Action myoclonus - renal failure syndrome.
    77259. Gaucher disease type 1.
    308. Unverricht-Lundborg disease.
    PharmGKBiPA35038.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11RemovedBy similarity
    Chaini2 – 478477Lysosome membrane protein 2PRO_0000144155Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi45 – 451N-linked (GlcNAc...)2 Publications
    Glycosylationi68 – 681N-linked (GlcNAc...)2 Publications
    Glycosylationi105 – 1051N-linked (GlcNAc...)1 Publication
    Glycosylationi206 – 2061N-linked (GlcNAc...)2 Publications
    Glycosylationi224 – 2241N-linked (GlcNAc...)1 Publication
    Glycosylationi249 – 2491N-linked (GlcNAc...)3 Publications
    Disulfide bondi274 ↔ 3291 Publication
    Glycosylationi304 – 3041N-linked (GlcNAc...)2 Publications
    Disulfide bondi312 ↔ 3181 Publication
    Glycosylationi325 – 3251N-linked (GlcNAc...)2 Publications
    Glycosylationi412 – 4121N-linked (GlcNAc...)2 Publications
    Glycosylationi430 – 4301N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    MaxQBiQ14108.
    PaxDbiQ14108.
    PeptideAtlasiQ14108.
    PRIDEiQ14108.

    PTM databases

    PhosphoSiteiQ14108.

    Expressioni

    Gene expression databases

    ArrayExpressiQ14108.
    BgeeiQ14108.
    CleanExiHS_SCARB2.
    GenevestigatoriQ14108.

    Organism-specific databases

    HPAiCAB015415.
    HPA018014.

    Interactioni

    Subunit structurei

    Interacts with GBA.2 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    PLCG1P191742EBI-1564650,EBI-79387

    Protein-protein interaction databases

    BioGridi107388. 11 interactions.
    IntActiQ14108. 9 interactions.
    MINTiMINT-4054592.
    STRINGi9606.ENSP00000264896.

    Structurei

    Secondary structure

    1
    478
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi38 – 403
    Helixi48 – 547
    Beta strandi60 – 7011
    Helixi72 – 765
    Beta strandi82 – 10322
    Turni104 – 1074
    Beta strandi108 – 11912
    Helixi121 – 1233
    Beta strandi124 – 1263
    Turni128 – 1303
    Beta strandi132 – 1365
    Helixi138 – 1469
    Helixi150 – 16213
    Beta strandi167 – 1726
    Helixi173 – 1786
    Helixi183 – 1919
    Beta strandi197 – 1993
    Turni201 – 2044
    Beta strandi213 – 2164
    Helixi222 – 2243
    Beta strandi227 – 2315
    Beta strandi234 – 2363
    Beta strandi238 – 2425
    Turni243 – 2464
    Beta strandi266 – 2683
    Helixi271 – 2733
    Beta strandi277 – 28711
    Beta strandi290 – 2967
    Helixi299 – 3024
    Helixi306 – 3116
    Turni313 – 3164
    Beta strandi323 – 3253
    Turni327 – 3326
    Beta strandi335 – 3384
    Helixi340 – 3423
    Helixi347 – 3515
    Helixi360 – 3634
    Beta strandi366 – 3694
    Turni371 – 3733
    Beta strandi376 – 38914
    Helixi396 – 3983
    Beta strandi403 – 41614
    Helixi419 – 4268

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    4F7BX-ray3.00A/B/C/D/E/F35-430[»]
    ProteinModelPortaliQ14108.
    SMRiQ14108. Positions 36-428.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini2 – 43CytoplasmicSequence Analysis
    Topological domaini28 – 433406LumenalSequence AnalysisAdd
    BLAST
    Topological domaini460 – 47819CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei5 – 2723HelicalSequence AnalysisAdd
    BLAST
    Transmembranei434 – 45926HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni155 – 19137Important for interaction with GBAAdd
    BLAST

    Sequence similaritiesi

    Belongs to the CD36 family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG257244.
    HOGENOMiHOG000252951.
    HOVERGENiHBG106707.
    InParanoidiQ14108.
    KOiK12384.
    OMAiLNESVHI.
    OrthoDBiEOG79SDWX.
    PhylomeDBiQ14108.
    TreeFamiTF317925.

    Family and domain databases

    InterProiIPR002159. CD36.
    IPR005429. LimpII.
    [Graphical view]
    PANTHERiPTHR11923. PTHR11923. 1 hit.
    PfamiPF01130. CD36. 1 hit.
    [Graphical view]
    PRINTSiPR01609. CD36FAMILY.
    PR01611. LIMPII.

    Sequences (2)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q14108-1) [UniParc]FASTAAdd to Basket

    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.

    « Hide

    MGRCCFYTAG TLSLLLLVTS VTLLVARVFQ KAVDQSIEKK IVLRNGTEAF    50
    DSWEKPPLPV YTQFYFFNVT NPEEILRGET PRVEEVGPYT YRELRNKANI 100
    QFGDNGTTIS AVSNKAYVFE RDQSVGDPKI DLIRTLNIPV LTVIEWSQVH 150
    FLREIIEAML KAYQQKLFVT HTVDELLWGY KDEILSLIHV FRPDISPYFG 200
    LFYEKNGTND GDYVFLTGED SYLNFTKIVE WNGKTSLDWW ITDKCNMING 250
    TDGDSFHPLI TKDEVLYVFP SDFCRSVYIT FSDYESVQGL PAFRYKVPAE 300
    ILANTSDNAG FCIPEGNCLG SGVLNVSICK NGAPIIMSFP HFYQADERFV 350
    SAIEGMHPNQ EDHETFVDIN PLTGIILKAA KRFQINIYVK KLDDFVETGD 400
    IRTMVFPVMY LNESVHIDKE TASRLKSMIN TTLIITNIPY IIMALGVFFG 450
    LVFTWLACKG QGSMDEGTAD ERAPLIRT 478
    Length:478
    Mass (Da):54,290
    Last modified:January 23, 2007 - v2
    Checksum:iFDCF27F3BA337B2C
    GO
    Isoform 2 (identifier: Q14108-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         93-235: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:335
    Mass (Da):37,767
    Checksum:i41D643B2B222B187
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti351 – 3511S → P in BAG59150. (PubMed:14702039)Curated

    Mass spectrometryi

    Molecular mass is 54158.97 Da from positions 2 - 478. Determined by MALDI. 1 Publication

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti363 – 3631H → N in EPM4; no renal failure. 1 Publication
    VAR_066744
    Natural varianti471 – 4711E → G May act as a modifier of Gaucher disease. 1 Publication
    VAR_066745

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei93 – 235143Missing in isoform 2. 1 PublicationVSP_044826Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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.
    CCDSiCCDS3577.1. [Q14108-1]
    CCDS56335.1. [Q14108-2]
    PIRiA56525.
    RefSeqiNP_001191184.1. NM_001204255.1. [Q14108-2]
    NP_005497.1. NM_005506.3. [Q14108-1]
    UniGeneiHs.349656.

    Genome annotation databases

    EnsembliENST00000264896; ENSP00000264896; ENSG00000138760. [Q14108-1]
    ENST00000452464; ENSP00000399154; ENSG00000138760. [Q14108-2]
    GeneIDi950.
    KEGGihsa:950.
    UCSCiuc003hju.2. human. [Q14108-1]

    Polymorphism databases

    DMDMi2498525.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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 .
    CCDSi CCDS3577.1. [Q14108-1 ]
    CCDS56335.1. [Q14108-2 ]
    PIRi A56525.
    RefSeqi NP_001191184.1. NM_001204255.1. [Q14108-2 ]
    NP_005497.1. NM_005506.3. [Q14108-1 ]
    UniGenei Hs.349656.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    4F7B X-ray 3.00 A/B/C/D/E/F 35-430 [» ]
    ProteinModelPortali Q14108.
    SMRi Q14108. Positions 36-428.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 107388. 11 interactions.
    IntActi Q14108. 9 interactions.
    MINTi MINT-4054592.
    STRINGi 9606.ENSP00000264896.

    PTM databases

    PhosphoSitei Q14108.

    Polymorphism databases

    DMDMi 2498525.

    Proteomic databases

    MaxQBi Q14108.
    PaxDbi Q14108.
    PeptideAtlasi Q14108.
    PRIDEi Q14108.

    Protocols and materials databases

    DNASUi 950.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000264896 ; ENSP00000264896 ; ENSG00000138760 . [Q14108-1 ]
    ENST00000452464 ; ENSP00000399154 ; ENSG00000138760 . [Q14108-2 ]
    GeneIDi 950.
    KEGGi hsa:950.
    UCSCi uc003hju.2. human. [Q14108-1 ]

    Organism-specific databases

    CTDi 950.
    GeneCardsi GC04M077079.
    HGNCi HGNC:1665. SCARB2.
    HPAi CAB015415.
    HPA018014.
    MIMi 254900. phenotype.
    602257. gene.
    neXtProti NX_Q14108.
    Orphaneti 163696. Action myoclonus - renal failure syndrome.
    77259. Gaucher disease type 1.
    308. Unverricht-Lundborg disease.
    PharmGKBi PA35038.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG257244.
    HOGENOMi HOG000252951.
    HOVERGENi HBG106707.
    InParanoidi Q14108.
    KOi K12384.
    OMAi LNESVHI.
    OrthoDBi EOG79SDWX.
    PhylomeDBi Q14108.
    TreeFami TF317925.

    Miscellaneous databases

    ChiTaRSi SCARB2. human.
    GeneWikii SCARB2.
    GenomeRNAii 950.
    NextBioi 3952.
    PROi Q14108.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q14108.
    Bgeei Q14108.
    CleanExi HS_SCARB2.
    Genevestigatori Q14108.

    Family and domain databases

    InterProi IPR002159. CD36.
    IPR005429. LimpII.
    [Graphical view ]
    PANTHERi PTHR11923. PTHR11923. 1 hit.
    Pfami PF01130. CD36. 1 hit.
    [Graphical view ]
    PRINTSi PR01609. CD36FAMILY.
    PR01611. LIMPII.
    ProtoNeti Search...

    Publicationsi

    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.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., 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.
      , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
      Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. 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, SUBCELLULAR LOCATION.
    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, REGION, INTERACTION WITH GBA.
    12. Cited for: SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS].
      Tissue: Placenta.
    13. 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.
      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. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    18. Cited for: INVOLVEMENT IN GAUCHER DISEASE AS MODIFIER GENE, VARIANT GLY-471.
    19. Cited for: X-RAY CRYSTALLOGRAPHY (3.00 ANGSTROMS) OF 35-430, DISULFIDE BOND, GLYCOSYLATION AT ASN-45; ASN-68; ASN-206; ASN-224; ASN-249; ASN-304; ASN-325 AND ASN-412, INTERACTION WITH GBA.
    20. "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.

    Entry informationi

    Entry nameiSCRB2_HUMAN
    AccessioniPrimary (citable) accession number: Q14108
    Secondary accession number(s): B4DKD8, E7EM68, Q53Y63
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1997
    Last sequence update: January 23, 2007
    Last modified: October 1, 2014
    This is version 139 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny 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.

    Miscellaneousi

    Keywords - Technical termi

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 4
      Human chromosome 4: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3