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P11168 (GTR2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 143. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Solute carrier family 2, facilitated glucose transporter member 2
Alternative name(s):
Glucose transporter type 2, liver
Short name=GLUT-2
Gene names
Name:SLC2A2
Synonyms:GLUT2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length524 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Facilitative glucose transporter. This isoform likelymediates 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

Membrane; Multi-pass membrane protein.

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. 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 processSugar transport
Transport
   Cellular componentMembrane
   Coding sequence diversityPolymorphism
   DiseaseDisease mutation
   DomainTransmembrane
Transmembrane helix
   PTMGlycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processcarbohydrate metabolic process

Traceable author statement. Source: Reactome

endocrine pancreas development

Traceable author statement. Source: Reactome

energy reserve metabolic process

Traceable author statement. Source: Reactome

glucose transport

Traceable author statement. Source: Reactome

hexose transmembrane transport

Traceable author statement. Source: GOC

hexose transport

Traceable author statement. Source: Reactome

regulation of insulin secretion

Traceable author statement. Source: Reactome

small molecule metabolic process

Traceable author statement. Source: Reactome

transmembrane transport

Traceable author statement. Source: Reactome

   Cellular_componentbrush border

Inferred from electronic annotation. Source: Ensembl

cytoplasm

Inferred from electronic annotation. Source: Ensembl

integral component of plasma membrane

Traceable author statement Ref.6. Source: ProtInc

membrane

Traceable author statement Ref.6. Source: ProtInc

plasma membrane

Traceable author statement. Source: Reactome

   Molecular_functionD-glucose transmembrane transporter activity

Inferred from electronic annotation. Source: Ensembl

dehydroascorbic acid transporter activity

Inferred from electronic annotation. Source: Ensembl

glucose transmembrane transporter activity

Inferred from experiment. Source: Reactome

hexose transmembrane transporter activity

Traceable author statement. Source: Reactome

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 524524Solute carrier family 2, facilitated glucose transporter member 2
PRO_0000050346

Regions

Topological domain1 – 1010Cytoplasmic Potential
Transmembrane11 – 3121Helical; Name=1; Potential
Topological domain32 – 9867Extracellular Potential
Transmembrane99 – 11921Helical; Name=2; Potential
Topological domain120 – 1278Cytoplasmic Potential
Transmembrane128 – 14821Helical; Name=3; Potential
Topological domain149 – 15810Extracellular Potential
Transmembrane159 – 17921Helical; Name=4; Potential
Topological domain180 – 1878Cytoplasmic Potential
Transmembrane188 – 20821Helical; Name=5; Potential
Topological domain209 – 2179Extracellular Potential
Transmembrane218 – 23821Helical; Name=6; Potential
Topological domain239 – 30365Cytoplasmic Potential
Transmembrane304 – 32421Helical; Name=7; Potential
Topological domain325 – 33814Extracellular Potential
Transmembrane339 – 35921Helical; Name=8; Potential
Topological domain360 – 3689Cytoplasmic Potential
Transmembrane369 – 38921Helical; Name=9; Potential
Topological domain390 – 40011Extracellular Potential
Transmembrane401 – 42121Helical; Name=10; Potential
Topological domain422 – 43312Cytoplasmic Potential
Transmembrane434 – 45421Helical; Name=11; Potential
Topological domain455 – 4617Extracellular Potential
Transmembrane462 – 48221Helical; Name=12; Potential
Topological domain483 – 52442Cytoplasmic Potential

Amino acid modifications

Glycosylation621N-linked (GlcNAc...) Potential

Natural variations

Natural variant681P → L. Ref.1 Ref.4
Corresponds to variant rs7637863 [ dbSNP | Ensembl ].
VAR_007169
Natural variant1011V → I.
Corresponds to variant rs1800572 [ dbSNP | Ensembl ].
VAR_014718
Natural variant1101T → I. Ref.4 Ref.5 Ref.6
Corresponds to variant rs5400 [ dbSNP | Ensembl ].
VAR_014719
Natural variant1971V → I in NIDDM; abolishes transport activity of the transporter expressed in Xenopus oocytes. Ref.5 Ref.6
VAR_018650
Natural variant3891L → P in FBS. Ref.8
VAR_018651
Natural variant4041I → T.
Corresponds to variant rs2229608 [ dbSNP | Ensembl ].
VAR_052501
Natural variant4171P → L in FBS. Ref.7
VAR_018652
Natural variant4231V → E in FBS. Ref.8
Corresponds to variant rs28928874 [ dbSNP | Ensembl ].
VAR_018653
Natural variant4781L → V.
Corresponds to variant rs5397 [ dbSNP | Ensembl ].
VAR_014720

Experimental info

Sequence conflict1831A → S in BAF83535. Ref.2
Sequence conflict3741S → N in BAF83535. Ref.2

Sequences

Sequence LengthMass (Da)Tools
P11168 [UniParc].

Last modified July 1, 1989. Version 1.
Checksum: DA600577207EC083

FASTA52457,490
        10         20         30         40         50         60 
MTEDKVTGTL VFTVITAVLG SFQFGYDIGV INAPQQVIIS HYRHVLGVPL DDRKAINNYV 

        70         80         90        100        110        120 
INSTDELPTI SYSMNPKPTP WAEEETVAAA QLITMLWSLS VSSFAVGGMT ASFFGGWLGD 

       130        140        150        160        170        180 
TLGRIKAMLV ANILSLVGAL LMGFSKLGPS HILIIAGRSI SGLYCGLISG LVPMYIGEIA 

       190        200        210        220        230        240 
PTALRGALGT FHQLAIVTGI LISQIIGLEF ILGNYDLWHI LLGLSGVRAI LQSLLLFFCP 

       250        260        270        280        290        300 
ESPRYLYIKL DEEVKAKQSL KRLRGYDDVT KDINEMRKER EEASSEQKVS IIQLFTNSSY 

       310        320        330        340        350        360 
RQPILVALML HVAQQFSGIN GIFYYSTSIF QTAGISKPVY ATIGVGAVNM VFTAVSVFLV 

       370        380        390        400        410        420 
EKAGRRSLFL IGMSGMFVCA IFMSVGLVLL NKFSWMSYVS MIAIFLFVSF FEIGPGPIPW 

       430        440        450        460        470        480 
FMVAEFFSQG PRPAALAIAA FSNWTCNFIV ALCFQYIADF CGPYVFFLFA GVLLAFTLFT 

       490        500        510        520 
FFKVPETKGK SFEEIAAEFQ KKSGSAHRPK AAVEMKFLGA TETV 

« Hide

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. expand/collapse author list , 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].
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. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., 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

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.
PIRA31318.
RefSeqNP_000331.1. NM_000340.1.
NP_001265587.1. NM_001278658.1.
NP_001265588.1. NM_001278659.1.
UniGeneHs.167584.

3D structure databases

ProteinModelPortalP11168.
SMRP11168. Positions 13-489.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid112405. 2 interactions.
STRING9606.ENSP00000323568.

Chemistry

BindingDBP11168.
ChEMBLCHEMBL5873.
GuidetoPHARMACOLOGY876.

Protein family/group databases

TCDB2.A.1.1.29. the major facilitator superfamily (mfs).

PTM databases

PhosphoSiteP11168.

Polymorphism databases

DMDM121756.

Proteomic databases

PaxDbP11168.
PRIDEP11168.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000314251; ENSP00000323568; ENSG00000163581.
GeneID6514.
KEGGhsa:6514.
UCSCuc003fhe.1. human.

Organism-specific databases

CTD6514.
GeneCardsGC03M170714.
HGNCHGNC:11006. SLC2A2.
HPACAB010444.
HPA028997.
MIM138160. gene.
227810. phenotype.
neXtProtNX_P11168.
Orphanet2088. Glycogen storage disease due to GLUT2 deficiency.
PharmGKBPA35876.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0477.
HOGENOMHOG000202871.
HOVERGENHBG014816.
InParanoidP11168.
KOK07593.
OMAMKFLGAT.
OrthoDBEOG7QVM2R.
PhylomeDBP11168.
TreeFamTF313762.

Enzyme and pathway databases

ReactomeREACT_111045. Developmental Biology.
REACT_111217. Metabolism.
REACT_15518. Transmembrane transport of small molecules.

Gene expression databases

ArrayExpressP11168.
BgeeP11168.
CleanExHS_SLC2A2.
GenevestigatorP11168.

Family and domain databases

InterProIPR002440. 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]
PfamPF00083. Sugar_tr. 1 hit.
[Graphical view]
PRINTSPR01191. GLUCTRSPORT2.
PR00171. SUGRTRNSPORT.
SUPFAMSSF103473. SSF103473. 3 hits.
TIGRFAMsTIGR00879. SP. 1 hit.
PROSITEPS50850. MFS. 1 hit.
PS00216. SUGAR_TRANSPORT_1. 1 hit.
PS00217. SUGAR_TRANSPORT_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi6514.
NextBio25331.
PROP11168.
SOURCESearch...

Entry information

Entry nameGTR2_HUMAN
AccessionPrimary (citable) accession number: P11168
Secondary accession number(s): A8K481, B2R936, Q9UCW9
Entry history
Integrated into UniProtKB/Swiss-Prot: July 1, 1989
Last sequence update: July 1, 1989
Last modified: April 16, 2014
This is version 143 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 3

Human chromosome 3: entries, gene names and cross-references to MIM