P11168 (GTR2_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 132.
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: Solute carrier family 2, facilitated glucose transporter member 2 Alternative name(s): Glucose transporter type 2, liver Short name=GLUT-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 | 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 | Fanconi-Bickel syndrome (FBS) [MIM:227810]: 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. |
| Sequence similarities | Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily. [View classification] |
Ontologies
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 | Helical; Name=1; Potential | ||||||
| Topological domain | 32 – 98 | 67 | Extracellular Potential | ||||||
| Transmembrane | 99 – 119 | 21 | Helical; Name=2; Potential | ||||||
| Topological domain | 120 – 127 | 8 | Cytoplasmic Potential | ||||||
| Transmembrane | 128 – 148 | 21 | Helical; Name=3; Potential | ||||||
| Topological domain | 149 – 158 | 10 | Extracellular Potential | ||||||
| Transmembrane | 159 – 179 | 21 | Helical; Name=4; Potential | ||||||
| Topological domain | 180 – 187 | 8 | Cytoplasmic Potential | ||||||
| Transmembrane | 188 – 208 | 21 | Helical; Name=5; Potential | ||||||
| Topological domain | 209 – 217 | 9 | Extracellular Potential | ||||||
| Transmembrane | 218 – 238 | 21 | Helical; Name=6; Potential | ||||||
| Topological domain | 239 – 303 | 65 | Cytoplasmic Potential | ||||||
| Transmembrane | 304 – 324 | 21 | Helical; Name=7; Potential | ||||||
| Topological domain | 325 – 338 | 14 | Extracellular Potential | ||||||
| Transmembrane | 339 – 359 | 21 | Helical; Name=8; Potential | ||||||
| Topological domain | 360 – 368 | 9 | Cytoplasmic Potential | ||||||
| Transmembrane | 369 – 389 | 21 | Helical; Name=9; Potential | ||||||
| Topological domain | 390 – 400 | 11 | Extracellular Potential | ||||||
| Transmembrane | 401 – 421 | 21 | Helical; Name=10; Potential | ||||||
| Topological domain | 422 – 433 | 12 | Cytoplasmic Potential | ||||||
| Transmembrane | 434 – 454 | 21 | Helical; Name=11; Potential | ||||||
| Topological domain | 455 – 461 | 7 | Extracellular Potential | ||||||
| Transmembrane | 462 – 482 | 21 | Helical; Name=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. Ref.1 Ref.4 Corresponds to variant rs7637863 [ dbSNP | Ensembl ]. | VAR_007169 | |||||
| Natural variant | 101 | 1 | V → I. Corresponds to variant rs1800572 [ dbSNP | Ensembl ]. | VAR_014718 | |||||
| Natural variant | 110 | 1 | T → I. Ref.4 Ref.5 Ref.6 Corresponds to variant rs5400 [ dbSNP | Ensembl ]. | 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. Corresponds to variant rs2229608 [ dbSNP | Ensembl ]. | VAR_052501 | |||||
| Natural variant | 417 | 1 | P → L in FBS. Ref.7 | VAR_018652 | |||||
| Natural variant | 423 | 1 | V → E in FBS. Ref.8 Corresponds to variant rs28928874 [ dbSNP | Ensembl ]. | VAR_018653 | |||||
| Natural variant | 478 | 1 | L → V. Corresponds to variant rs5397 [ dbSNP | Ensembl ]. | 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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [Abstract] Cited for: VARIANTS FBS PRO-389 AND GLU-423. |
| + | Additional computationally mapped references. |
Web resources
| GeneReviews |
| Wikipedia GLUT2 entry |
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. NM_000340.1. |
| UniGene | Hs.167584. |
3D structure databases | |
| ProteinModelPortal | P11168. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | 9606.ENSP00000323568. |
Protein family/group databases | |
| TCDB | 2.A.1.1.29. major facilitator superfamily (MFS). |
PTM databases | |
| PhosphoSite | P11168. |
Polymorphism databases | |
| DMDM | 121756. |
Proteomic databases | |
| PaxDb | P11168. |
| PRIDE | P11168. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000314251; ENSP00000323568; ENSG00000163581. |
| GeneID | 6514. |
| KEGG | hsa:6514. |
| UCSC | uc003fhe.1. human. |
Organism-specific databases | |
| CTD | 6514. |
| GeneCards | GC03M170714. |
| HGNC | HGNC:11006. SLC2A2. |
| HPA | CAB010444. |
| MIM | 138160. gene. 227810. phenotype. |
| neXtProt | NX_P11168. |
| Orphanet | 2088. Bickel-Fanconi glycogenosis. |
| PharmGKB | PA35876. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | COG0477. |
| HOGENOM | HOG000202871. |
| HOVERGEN | HBG014816. |
| InParanoid | P11168. |
| KO | K07593. |
| OMA | DLWHILL. |
| OrthoDB | EOG4K6G40. |
| PhylomeDB | P11168. |
Enzyme and pathway databases | |
| Pathway_Interaction_DB | hnf3bpathway. FOXA2 and FOXA3 transcription factor networks. |
| Reactome | REACT_111045. Developmental Biology. REACT_111217. Metabolism. REACT_15518. Transmembrane transport of small molecules. |
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. IPR020846. MFS_dom. IPR016196. MFS_dom_general_subst_transpt. IPR005828. Sub_transporter. IPR003663. Sugar/inositol_transpt. IPR005829. Sugar_transporter_CS. [Graphical view] |
| Pfam | PF00083. Sugar_tr. 1 hit. [Graphical view] |
| PRINTS | PR01191. GLUCTRSPORT2. PR00171. SUGRTRNSPORT. |
| SUPFAM | SSF103473. MFS_gen_substrate_transporter. 1 hit. |
| 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 | |
| BindingDB | P11168. |
| ChEMBL | CHEMBL5873. |
| GenomeRNAi | 6514. |
| 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 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 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
