Reviewed,
UniProtKB/Swiss-Prot P11168 (GTR2_HUMAN)
Last modified
February 9, 2010.
Version 106.
History...
Clusters with 100%,
90%,
50% identity |
Documents (5) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Solute carrier family 2, facilitated glucose transporter member 2 Alternative name(s): Glucose transporter type 2, liver Short name=GLUT-2 | ||||
| Gene names |
| ||||
| 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 | 524 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | Facilitative glucose transporter. This isoform likely mediates the bidirectional transfer of glucose across the plasma membrane of hepatocytes and is responsible for uptake of glucose by the beta cells; may comprise part of the glucose-sensing mechanism of the beta cell. May also participate with the Na+/glucose cotransporter in the transcellular transport of glucose in the small intestine and kidney. |
| Subcellular location | |
| Tissue specificity | Liver, insulin-producing beta cell, small intestine and kidney. |
| Post-translational modification | N-glycosylated; required for stability and retention at the cell surface of pancreatic beta cells By similarity. |
| Involvement in disease | Defects in SLC2A2 are the cause of Fanconi-Bickel syndrome (FBS) [MIM:227810]. FBS is a rare, well-defined clinical entity, inherited in an autosomal recessive mode and characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, and impaired utilization of glucose and galactose. Ref.7 Ref.8 |
| Sequence similarities | Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily. [View classification] |
Ontologies
| Keywords | |
|---|---|
| Biological process | Sugar transport Transport |
| Cellular component | Membrane |
| Coding sequence diversity | Polymorphism |
| Disease | Disease mutation |
| Domain | Transmembrane |
| PTM | Glycoprotein |
| Technical term | Complete proteome |
| Gene Ontology (GO) | |
| Biological process | carbohydrate metabolic process Ref.6 Traceable author statement. Source: ProtInc glucose transport Ref.6Traceable author statement. Source: ProtInc transmembrane transportInferred from electronic annotation. Source: InterPro |
| Cellular component | integral to plasma membrane Ref.6 Traceable author statement. Source: ProtInc membrane fraction Ref.6Traceable author statement. Source: ProtInc |
| Complete GO annotation... | |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 524 | 524 | Solute carrier family 2, facilitated glucose transporter member 2 | PRO_0000050346 | |||||
Regions | |||||||||
| Topological domain | 1 – 10 | 10 | Cytoplasmic Potential | ||||||
| Transmembrane | 11 – 31 | 21 | 1 Potential | ||||||
| Topological domain | 32 – 98 | 67 | Extracellular Potential | ||||||
| Transmembrane | 99 – 119 | 21 | 2 Potential | ||||||
| Topological domain | 120 – 127 | 8 | Cytoplasmic Potential | ||||||
| Transmembrane | 128 – 148 | 21 | 3 Potential | ||||||
| Topological domain | 149 – 158 | 10 | Extracellular Potential | ||||||
| Transmembrane | 159 – 179 | 21 | 4 Potential | ||||||
| Topological domain | 180 – 187 | 8 | Cytoplasmic Potential | ||||||
| Transmembrane | 188 – 208 | 21 | 5 Potential | ||||||
| Topological domain | 209 – 217 | 9 | Extracellular Potential | ||||||
| Transmembrane | 218 – 238 | 21 | 6 Potential | ||||||
| Topological domain | 239 – 303 | 65 | Cytoplasmic Potential | ||||||
| Transmembrane | 304 – 324 | 21 | 7 Potential | ||||||
| Topological domain | 325 – 338 | 14 | Extracellular Potential | ||||||
| Transmembrane | 339 – 359 | 21 | 8 Potential | ||||||
| Topological domain | 360 – 368 | 9 | Cytoplasmic Potential | ||||||
| Transmembrane | 369 – 389 | 21 | 9 Potential | ||||||
| Topological domain | 390 – 400 | 11 | Extracellular Potential | ||||||
| Transmembrane | 401 – 421 | 21 | 10 Potential | ||||||
| Topological domain | 422 – 433 | 12 | Cytoplasmic Potential | ||||||
| Transmembrane | 434 – 454 | 21 | 11 Potential | ||||||
| Topological domain | 455 – 461 | 7 | Extracellular Potential | ||||||
| Transmembrane | 462 – 482 | 21 | 12 Potential | ||||||
| Topological domain | 483 – 524 | 42 | Cytoplasmic Potential | ||||||
Amino acid modifications | |||||||||
| Glycosylation | 62 | 1 | N-linked (GlcNAc...) Potential | ||||||
Natural variations | |||||||||
| Natural variant | 68 | 1 | P → L: dbSNP rs7637863. Ref.1 Ref.4 | VAR_007169 | |||||
| Natural variant | 101 | 1 | V → I: dbSNP rs1800572. | VAR_014718 | |||||
| Natural variant | 110 | 1 | T → I: dbSNP rs5400. Ref.4 Ref.5 Ref.6 | VAR_014719 | |||||
| Natural variant | 197 | 1 | V → I in NIDDM; abolishes transport activity of the transporter expressed in Xenopus oocytes. Ref.5 Ref.6 | VAR_018650 | |||||
| Natural variant | 389 | 1 | L → P in FBS. Ref.8 | VAR_018651 | |||||
| Natural variant | 404 | 1 | I → T: dbSNP rs2229608. | VAR_052501 | |||||
| Natural variant | 417 | 1 | P → L in FBS. Ref.7 | VAR_018652 | |||||
| Natural variant | 423 | 1 | V → E in FBS. dbSNP rs28928874. Ref.8 | VAR_018653 | |||||
| Natural variant | 478 | 1 | L → V: dbSNP rs5397. | VAR_014720 | |||||
Experimental info | |||||||||
| Sequence conflict | 183 | 1 | A → S in BAF83535. Ref.2 | ||||||
| Sequence conflict | 374 | 1 | S → N in BAF83535. Ref.2 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Sequence, tissue distribution, and chromosomal localization of mRNA encoding a human glucose transporter-like protein." Fukumoto H., Seino S., Imura H., Sieno Y., Eddy R.L., Fukushima Y., Byers M.G., Shows T.B., Bell G.I. Proc. Natl. Acad. Sci. U.S.A. 85:5434-5438(1988) [PubMed: 3399500] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT LEU-68. Tissue: Kidney and Liver. |
| [2] | "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: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Liver. |
| [3] | Mural R.J., Istrail S., Sutton G.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 (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [4] | "Sequence variations of the pancreatic islet/liver glucose transporter (GLUT2) gene in Japanese subjects with noninsulin dependent diabetes mellitus." Matsubara A., Tanizawa Y., Matsutani A., Kaneko T., Kaku K. J. Clin. Endocrinol. Metab. 80:3131-3135(1995) [PubMed: 7593414] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 29-100, VARIANTS LEU-68 AND ILE-110. Tissue: Peripheral blood. |
| [5] | "Variability of the pancreatic islet beta cell/liver (GLUT 2) glucose transporter gene in NIDDM patients." Tanizawa Y., Riggs A.C., Chiu K.C., Janssen R.C., Bell D.S.H., Go R.P.C., Roseman J.M., Acton R.T., Permutt M.A. Diabetologia 37:420-427(1994) [PubMed: 8063045] [Abstract] Cited for: VARIANT NIDDM ILE-197, VARIANT ILE-110. |
| [6] | "A mutation in the Glut2 glucose transporter gene of a diabetic patient abolishes transport activity." Mueckler M., Kruse M., Strube M., Riggs A.C., Chiu K.C., Permutt M.A. J. Biol. Chem. 269:17765-17767(1994) [PubMed: 8027028] [Abstract] Cited for: CHARACTERIZATION OF VARIANT NIDDM ILE-197, CHARACTERIZATION OF VARIANT ILE-110. |
| [7] | "A mutation in GLUT2, not in phosphorylase kinase subunits, in hepato-renal glycogenosis with Fanconi syndrome and low phosphorylase kinase activity." Burwinkel B., Sanjad S.A., Al-Sabban E., Al-Abbad A., Kilimann M.W. Hum. Genet. 105:240-243(1999) [PubMed: 10987651] [Abstract] Cited for: VARIANT FBS LEU-417. |
| [8] | "Mutation analysis of the GLUT2 gene in patients with Fanconi-Bickel syndrome." Sakamoto O., Ogawa E., Ohura T., Igarashi Y., Matsubara Y., Narisawa K., Iinuma K. Pediatr. Res. 48:586-589(2000) [PubMed: 11044475] [Abstract] Cited for: VARIANTS FBS PRO-389 AND GLU-423. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | J03810 mRNA. Translation: AAA59514.1. AK290846 mRNA. Translation: BAF83535.1. AK313622 mRNA. Translation: BAG36383.1. CH471052 Genomic DNA. Translation: EAW78499.1. |
| IPI | IPI00003905. |
| PIR | A31318. |
| RefSeq | NP_000331.1. |
| UniGene | Hs.167584 |
3D structure databases | |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | P11168. |
Protein family/group databases | |
| TCDB | 2.A.1.1.29. major facilitator superfamily (MFS). |
PTM databases | |
| PhosphoSite | P11168. |
Proteomic databases | |
| PRIDE | P11168. |
Genome annotation databases | |
| Ensembl | ENST00000314251; ENSP00000323568; ENSG00000163581; Homo sapiens. [Genome view] |
| GeneID | 6514. |
| KEGG | hsa:6514. |
| UCSC | uc003fhe.1. human. |
Organism-specific databases | |
| CTD | 6514. |
| GeneCards | GC03M172196. |
| H-InvDB | HIX0030837. |
| HGNC | HGNC:11006. SLC2A2. |
| HPA | CAB010444. |
| MIM | 138160. gene. 227810. phenotype. |
| Orphanet | 2088. Bickel-Fanconi glycogenosis. |
| PharmGKB | PA35876. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | prNOG04098. |
| HOGENOM | HBG744444. |
| HOVERGEN | P11168. |
| InParanoid | P11168. |
| OrthoDB | EOG9F4VWG. |
| PhylomeDB | P11168. |
Enzyme and pathway databases | |
| Pathway_Interaction_DB | hnf3bpathway. FOXA2 and FOXA3 transcription factor networks. |
| Reactome | REACT_13698. Regulation of beta-cell development. REACT_1505. Integration of energy metabolism. REACT_15380. Diabetes pathways. REACT_15518. Transmembrane transport of small molecules. REACT_474. Metabolism of carbohydrates. REACT_602. Metabolism of lipids and lipoproteins. |
Gene expression databases | |
| ArrayExpress | P11168. |
| Bgee | P11168. |
| CleanEx | HS_SLC2A2. |
| Genevestigator | P11168. |
| GermOnline | ENSG00000163581. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR002440. Glc_transpt_2. IPR016196. MFS_general_subst_transpt. IPR003663. Sugar/inositol_transpt. IPR005829. Sugar_transporter_CS. [Graphical view] |
| PRINTS | PR01191. GLUCTRSPORT2. PR00171. SUGRTRNSPORT. |
| TIGRFAMs | TIGR00879. SP. 1 hit. |
| PROSITE | PS50850. MFS. 1 hit. PS00216. SUGAR_TRANSPORT_1. 1 hit. PS00217. SUGAR_TRANSPORT_2. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 25331. |
| SOURCE | Search... |
Entry information
| Entry name | GTR2_HUMAN | ||||||||
| Accession | Primary (citable) accession number: P11168 Secondary accession number(s): A8K481, B2R936, Q9UCW9 | ||||||||
| Entry history |
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| 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. | ||||||||
Relevant documents
| Human chromosome 3 Human chromosome 3: 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


