Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

P31639

- SC5A2_HUMAN

UniProt

P31639 - SC5A2_HUMAN

Protein

Sodium/glucose cotransporter 2

Gene

SLC5A2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 132 (01 Oct 2014)
      Sequence version 1 (01 Jul 1993)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    Functioni

    Sodium-dependent glucose transporter. Has a Na+ to glucose coupling ratio of 1:1.
    Efficient substrate transport in mammalian kidney is provided by the concerted action of a low affinity high capacity and a high affinity low capacity Na+/glucose cotransporter arranged in series along kidney proximal tubules.

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sitei40 – 401Implicated in sodium couplingBy similarity
    Sitei300 – 3001Implicated in sodium couplingBy similarity

    GO - Molecular functioni

    1. low-affinity glucose:sodium symporter activity Source: ProtInc

    GO - Biological processi

    1. carbohydrate metabolic process Source: ProtInc
    2. glucose transport Source: GOC
    3. transmembrane transport Source: Reactome
    4. transport Source: ProtInc

    Keywords - Biological processi

    Ion transport, Sodium transport, Sugar transport, Symport, Transport

    Keywords - Ligandi

    Sodium

    Enzyme and pathway databases

    ReactomeiREACT_19165. Na+-dependent glucose transporters.
    REACT_19188. Inositol transporters.
    REACT_9441. Hexose transport.

    Protein family/group databases

    TCDBi2.A.21.3.16. the solute:sodium symporter (sss) family.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Sodium/glucose cotransporter 2
    Short name:
    Na(+)/glucose cotransporter 2
    Alternative name(s):
    Low affinity sodium-glucose cotransporter
    Solute carrier family 5 member 2
    Gene namesi
    Name:SLC5A2
    Synonyms:SGLT2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 16

    Organism-specific databases

    HGNCiHGNC:11037. SLC5A2.

    Subcellular locationi

    GO - Cellular componenti

    1. extracellular vesicular exosome Source: UniProt
    2. integral component of membrane Source: ProtInc
    3. plasma membrane Source: Reactome

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Renal glucosuria (GLYS1) [MIM:233100]: Autosomal recessive disorder characterized by a normal fasting serum glucose concentration and persistent isolated glucosuria, with a normal glucose tolerance test.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti654 – 6541N → S in GLYS1. 1 Publication
    Corresponds to variant rs61742739 [ dbSNP | Ensembl ].
    VAR_019310

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi233100. phenotype.
    Orphaneti69076. Renal glucosuria.
    PharmGKBiPA35902.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 672672Sodium/glucose cotransporter 2PRO_0000105372Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi250 – 2501N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi399 – 3991N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PaxDbiP31639.
    PRIDEiP31639.

    PTM databases

    PhosphoSiteiP31639.

    Expressioni

    Gene expression databases

    ArrayExpressiP31639.
    BgeeiP31639.
    CleanExiHS_SLC5A2.
    GenevestigatoriP31639.

    Organism-specific databases

    HPAiHPA041603.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000327943.

    Structurei

    3D structure databases

    ProteinModelPortaliP31639.
    SMRiP31639. Positions 25-497.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 2525CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini45 – 6117ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini83 – 10220CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini124 – 16845ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini189 – 20517CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini227 – 27044ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini292 – 31423CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini335 – 42389ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini444 – 45512CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini477 – 52650ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini548 – 650103CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei26 – 4419HelicalSequence AnalysisAdd
    BLAST
    Transmembranei62 – 8221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei103 – 12321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei169 – 18820HelicalSequence AnalysisAdd
    BLAST
    Transmembranei206 – 22621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei271 – 29121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei315 – 33420HelicalSequence AnalysisAdd
    BLAST
    Transmembranei424 – 44320HelicalSequence AnalysisAdd
    BLAST
    Transmembranei456 – 47621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei527 – 54721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei651 – 67121HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG4146.
    HOGENOMiHOG000025422.
    HOVERGENiHBG052859.
    InParanoidiP31639.
    KOiK14382.
    OMAiFFWGFYA.
    OrthoDBiEOG77126J.
    PhylomeDBiP31639.
    TreeFamiTF352855.

    Family and domain databases

    InterProiIPR001734. Na/solute_symporter.
    IPR018212. Na/solute_symporter_CS.
    IPR019900. Na/solute_symporter_subgr.
    [Graphical view]
    PANTHERiPTHR11819. PTHR11819. 1 hit.
    PfamiPF00474. SSF. 1 hit.
    [Graphical view]
    TIGRFAMsiTIGR00813. sss. 1 hit.
    PROSITEiPS00456. NA_SOLUT_SYMP_1. 1 hit.
    PS00457. NA_SOLUT_SYMP_2. 1 hit.
    PS50283. NA_SOLUT_SYMP_3. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: P31639-1) [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

    MEEHTEAGSA PEMGAQKALI DNPADILVIA AYFLLVIGVG LWSMCRTNRG    50
    TVGGYFLAGR SMVWWPVGAS LFASNIGSGH FVGLAGTGAA SGLAVAGFEW 100
    NALFVVLLLG WLFAPVYLTA GVITMPQYLR KRFGGRRIRL YLSVLSLFLY 150
    IFTKISVDMF SGAVFIQQAL GWNIYASVIA LLGITMIYTV TGGLAALMYT 200
    DTVQTFVILG GACILMGYAF HEVGGYSGLF DKYLGAATSL TVSEDPAVGN 250
    ISSFCYRPRP DSYHLLRHPV TGDLPWPALL LGLTIVSGWY WCSDQVIVQR 300
    CLAGKSLTHI KAGCILCGYL KLTPMFLMVM PGMISRILYP DEVACVVPEV 350
    CRRVCGTEVG CSNIAYPRLV VKLMPNGLRG LMLAVMLAAL MSSLASIFNS 400
    SSTLFTMDIY TRLRPRAGDR ELLLVGRLWV VFIVVVSVAW LPVVQAAQGG 450
    QLFDYIQAVS SYLAPPVSAV FVLALFVPRV NEQGAFWGLI GGLLMGLARL 500
    IPEFSFGSGS CVQPSACPAF LCGVHYLYFA IVLFFCSGLL TLTVSLCTAP 550
    IPRKHLHRLV FSLRHSKEER EDLDADEQQG SSLPVQNGCP ESAMEMNEPQ 600
    APAPSLFRQC LLWFCGMSRG GVGSPPPLTQ EEAAAAARRL EDISEDPSWA 650
    RVVNLNALLM MAVAVFLWGF YA 672
    Length:672
    Mass (Da):72,897
    Last modified:July 1, 1993 - v1
    Checksum:i233C65F1601B0337
    GO
    Isoform 2 (identifier: P31639-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         378-458: LRGLMLAVML...GGQLFDYIQA → RLLGTHRGPA...PPPPGLQSPA
         459-672: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:458
    Mass (Da):49,357
    Checksum:iB8FE8FA645AA481A
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti654 – 6541N → S in GLYS1. 1 Publication
    Corresponds to variant rs61742739 [ dbSNP | Ensembl ].
    VAR_019310

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei378 – 45881LRGLM…DYIQA → RLLGTHRGPADGPGTPDSRV LLRLGQLCAALGVPSFPLRR ALPLLRHCAVLLLWPPHPHG LPVHRAHPQKAPPPPGLQSP A in isoform 2. 1 PublicationVSP_056333Add
    BLAST
    Alternative sequencei459 – 672214Missing in isoform 2. 1 PublicationVSP_056334Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M95549 mRNA. Translation: AAA36608.1.
    AC026471 Genomic DNA. No translation available.
    BC131542 mRNA. Translation: AAI31543.1.
    CCDSiCCDS10714.1.
    PIRiA56765.
    RefSeqiNP_003032.1. NM_003041.3.
    UniGeneiHs.709195.

    Genome annotation databases

    EnsembliENST00000330498; ENSP00000327943; ENSG00000140675.
    ENST00000419665; ENSP00000410601; ENSG00000140675.
    GeneIDi6524.
    KEGGihsa:6524.
    UCSCiuc002ecf.4. human.

    Polymorphism databases

    DMDMi400337.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M95549 mRNA. Translation: AAA36608.1 .
    AC026471 Genomic DNA. No translation available.
    BC131542 mRNA. Translation: AAI31543.1 .
    CCDSi CCDS10714.1.
    PIRi A56765.
    RefSeqi NP_003032.1. NM_003041.3.
    UniGenei Hs.709195.

    3D structure databases

    ProteinModelPortali P31639.
    SMRi P31639. Positions 25-497.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000327943.

    Chemistry

    BindingDBi P31639.
    ChEMBLi CHEMBL3884.
    GuidetoPHARMACOLOGYi 916.

    Protein family/group databases

    TCDBi 2.A.21.3.16. the solute:sodium symporter (sss) family.

    PTM databases

    PhosphoSitei P31639.

    Polymorphism databases

    DMDMi 400337.

    Proteomic databases

    PaxDbi P31639.
    PRIDEi P31639.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000330498 ; ENSP00000327943 ; ENSG00000140675 .
    ENST00000419665 ; ENSP00000410601 ; ENSG00000140675 .
    GeneIDi 6524.
    KEGGi hsa:6524.
    UCSCi uc002ecf.4. human.

    Organism-specific databases

    CTDi 6524.
    GeneCardsi GC16P031494.
    HGNCi HGNC:11037. SLC5A2.
    HPAi HPA041603.
    MIMi 182381. gene.
    233100. phenotype.
    neXtProti NX_P31639.
    Orphaneti 69076. Renal glucosuria.
    PharmGKBi PA35902.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG4146.
    HOGENOMi HOG000025422.
    HOVERGENi HBG052859.
    InParanoidi P31639.
    KOi K14382.
    OMAi FFWGFYA.
    OrthoDBi EOG77126J.
    PhylomeDBi P31639.
    TreeFami TF352855.

    Enzyme and pathway databases

    Reactomei REACT_19165. Na+-dependent glucose transporters.
    REACT_19188. Inositol transporters.
    REACT_9441. Hexose transport.

    Miscellaneous databases

    GeneWikii SLC5A2.
    GenomeRNAii 6524.
    NextBioi 25379.
    PROi P31639.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P31639.
    Bgeei P31639.
    CleanExi HS_SLC5A2.
    Genevestigatori P31639.

    Family and domain databases

    InterProi IPR001734. Na/solute_symporter.
    IPR018212. Na/solute_symporter_CS.
    IPR019900. Na/solute_symporter_subgr.
    [Graphical view ]
    PANTHERi PTHR11819. PTHR11819. 1 hit.
    Pfami PF00474. SSF. 1 hit.
    [Graphical view ]
    TIGRFAMsi TIGR00813. sss. 1 hit.
    PROSITEi PS00456. NA_SOLUT_SYMP_1. 1 hit.
    PS00457. NA_SOLUT_SYMP_2. 1 hit.
    PS50283. NA_SOLUT_SYMP_3. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Cloning of a human kidney cDNA with similarity to the sodium-glucose cotransporter."
      Wells R.G., Pajor A.M., Kanai Y., Turk E., Wright E.M., Hediger M.A.
      Am. J. Physiol. 263:F459-F465(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Kidney.
    2. "The sequence and analysis of duplication-rich human chromosome 16."
      Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J.
      , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A.
      Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    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] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    4. "Novel compound heterozygous mutations in SLC5A2 are responsible for autosomal recessive renal glucosuria."
      Calado J., Soto K., Clemente C., Correia P., Rueff J.
      Hum. Genet. 114:314-316(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT GLYS1 SER-654.

    Entry informationi

    Entry nameiSC5A2_HUMAN
    AccessioniPrimary (citable) accession number: P31639
    Secondary accession number(s): A2RRD2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 1, 1993
    Last sequence update: July 1, 1993
    Last modified: October 1, 2014
    This is version 132 of the entry and version 1 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

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 16
      Human chromosome 16: 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3