P31639 (SC5A2_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 117.
History...
Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | 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 names |
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| 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 | 672 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | 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. |
| Subcellular location | |
| Involvement in disease | 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. |
| Sequence similarities | Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family. [View classification] |
Ontologies
| Keywords | |
|---|---|
| Biological process | Ion transport Sodium transport Sugar transport Symport Transport |
| Cellular component | Membrane |
| Disease | Disease mutation |
| Domain | Transmembrane Transmembrane helix |
| Ligand | Sodium |
| PTM | Glycoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | carbohydrate metabolic process Traceable author statement PubMed 8244402. Source: ProtInc |
| Cellular_component | integral to membrane Traceable author statement PubMed 8244402. Source: ProtInc plasma membraneTraceable author statement. Source: Reactome |
| Molecular_function | low-affinity glucose:sodium symporter activity Traceable author statement PubMed 8244402. Source: ProtInc |
| Complete GO annotation... | |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 672 | 672 | Sodium/glucose cotransporter 2 | PRO_0000105372 | |||||
Regions | |||||||||
| Topological domain | 1 – 25 | 25 | Cytoplasmic Potential | ||||||
| Transmembrane | 26 – 44 | 19 | Helical; Potential | ||||||
| Topological domain | 45 – 61 | 17 | Extracellular Potential | ||||||
| Transmembrane | 62 – 82 | 21 | Helical; Potential | ||||||
| Topological domain | 83 – 102 | 20 | Cytoplasmic Potential | ||||||
| Transmembrane | 103 – 123 | 21 | Helical; Potential | ||||||
| Topological domain | 124 – 168 | 45 | Extracellular Potential | ||||||
| Transmembrane | 169 – 188 | 20 | Helical; Potential | ||||||
| Topological domain | 189 – 205 | 17 | Cytoplasmic Potential | ||||||
| Transmembrane | 206 – 226 | 21 | Helical; Potential | ||||||
| Topological domain | 227 – 270 | 44 | Extracellular Potential | ||||||
| Transmembrane | 271 – 291 | 21 | Helical; Potential | ||||||
| Topological domain | 292 – 314 | 23 | Cytoplasmic Potential | ||||||
| Transmembrane | 315 – 334 | 20 | Helical; Potential | ||||||
| Topological domain | 335 – 423 | 89 | Extracellular Potential | ||||||
| Transmembrane | 424 – 443 | 20 | Helical; Potential | ||||||
| Topological domain | 444 – 455 | 12 | Cytoplasmic Potential | ||||||
| Transmembrane | 456 – 476 | 21 | Helical; Potential | ||||||
| Topological domain | 477 – 526 | 50 | Extracellular Potential | ||||||
| Transmembrane | 527 – 547 | 21 | Helical; Potential | ||||||
| Topological domain | 548 – 650 | 103 | Cytoplasmic Potential | ||||||
| Transmembrane | 651 – 671 | 21 | Helical; Potential | ||||||
Sites | |||||||||
| Site | 40 | 1 | Implicated in sodium coupling By similarity | ||||||
| Site | 300 | 1 | Implicated in sodium coupling By similarity | ||||||
Amino acid modifications | |||||||||
| Glycosylation | 250 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 399 | 1 | N-linked (GlcNAc...) Potential | ||||||
Natural variations | |||||||||
| Natural variant | 654 | 1 | N → S in GLYS1. Ref.2 | VAR_019310 | |||||
Sequences
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References
| [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]. Tissue: Kidney. |
| [2] | "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. |
| + | Additional computationally mapped references. |
Web resources
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | M95549 mRNA. Translation: AAA36608.1. |
| IPI | IPI00012449. |
| PIR | A56765. |
| RefSeq | NP_003032.1. NM_003041.3. |
| UniGene | Hs.709195. |
3D structure databases | |
| ProteinModelPortal | P31639. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | 9606.ENSP00000327943. |
PTM databases | |
| PhosphoSite | P31639. |
Polymorphism databases | |
| DMDM | 400337. |
Proteomic databases | |
| PaxDb | P31639. |
| PRIDE | P31639. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000330498; ENSP00000327943; ENSG00000140675. |
| GeneID | 6524. |
| KEGG | hsa:6524. |
| UCSC | uc002ecf.4. human. |
Organism-specific databases | |
| CTD | 6524. |
| GeneCards | GC16P031494. |
| HGNC | HGNC:11037. SLC5A2. |
| HPA | HPA041603. |
| MIM | 182381. gene. 233100. phenotype. |
| neXtProt | NX_P31639. |
| Orphanet | 69076. Renal glucosuria. |
| PharmGKB | PA35902. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | COG4146. |
| HOGENOM | HOG000025422. |
| HOVERGEN | HBG052859. |
| InParanoid | P31639. |
| KO | K14382. |
| OMA | TTWVVIS. |
| OrthoDB | EOG4C2H9F. |
| PhylomeDB | P31639. |
Enzyme and pathway databases | |
| Reactome | REACT_15518. Transmembrane transport of small molecules. |
Gene expression databases | |
| ArrayExpress | P31639. |
| Bgee | P31639. |
| CleanEx | HS_SLC5A2. |
| Genevestigator | P31639. |
| GermOnline | ENSG00000140675. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR001734. Na/solute_symporter. IPR018212. Na/solute_symporter_CS. IPR019900. Na/solute_symporter_subgr. [Graphical view] |
| PANTHER | PTHR11819. PTHR11819. 1 hit. |
| Pfam | PF00474. SSF. 1 hit. [Graphical view] |
| TIGRFAMs | TIGR00813. sss. 1 hit. |
| PROSITE | PS00456. NA_SOLUT_SYMP_1. 1 hit. PS00457. NA_SOLUT_SYMP_2. 1 hit. PS50283. NA_SOLUT_SYMP_3. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| BindingDB | P31639. |
| ChEMBL | CHEMBL3884. |
| GenomeRNAi | 6524. |
| NextBio | 25379. |
| SOURCE | Search... |
Entry information
| Entry name | SC5A2_HUMAN | ||||||||
| Accession | Primary (citable) accession number: P31639 | ||||||||
| Entry history |
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| 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 16 Human chromosome 16: 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
