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P11168

- GTR2_HUMAN

UniProt

P11168 - GTR2_HUMAN

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Protein

Solute carrier family 2, facilitated glucose transporter member 2

Gene

SLC2A2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

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.

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei349 – 3491MonosaccharideBy similarity
Binding sitei420 – 4201MonosaccharideBy similarity

GO - Molecular functioni

  1. dehydroascorbic acid transporter activity Source: Ensembl
  2. D-glucose transmembrane transporter activity Source: Ensembl
  3. glucose transmembrane transporter activity Source: Reactome
  4. hexose transmembrane transporter activity Source: Reactome

GO - Biological processi

  1. carbohydrate metabolic process Source: Reactome
  2. endocrine pancreas development Source: Reactome
  3. energy reserve metabolic process Source: Reactome
  4. glucose transport Source: Reactome
  5. hexose transmembrane transport Source: GOC
  6. hexose transport Source: Reactome
  7. regulation of insulin secretion Source: Reactome
  8. small molecule metabolic process Source: Reactome
  9. transmembrane transport Source: Reactome
Complete GO annotation...

Keywords - Biological processi

Sugar transport, Transport

Enzyme and pathway databases

ReactomeiREACT_13819. Regulation of gene expression in beta cells.
REACT_18325. Regulation of insulin secretion.
REACT_19343. Facilitative Na+-independent glucose transporters.
REACT_212. Glucose transport.
REACT_9441. Hexose transport.

Protein family/group databases

TCDBi2.A.1.1.29. the major facilitator superfamily (mfs).

Names & Taxonomyi

Protein namesi
Recommended name:
Solute carrier family 2, facilitated glucose transporter member 2
Alternative name(s):
Glucose transporter type 2, liver
Short name:
GLUT-2
Gene namesi
Name:SLC2A2
Synonyms:GLUT2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 3

Organism-specific databases

HGNCiHGNC:11006. SLC2A2.

Subcellular locationi

GO - Cellular componenti

  1. brush border Source: Ensembl
  2. cytoplasm Source: Ensembl
  3. integral component of plasma membrane Source: ProtInc
  4. membrane Source: ProtInc
  5. plasma membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

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.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti389 – 3891L → P in FBS. 1 Publication
VAR_018651
Natural varianti417 – 4171P → L in FBS. 1 Publication
VAR_018652
Natural varianti423 – 4231V → E in FBS. 1 Publication
Corresponds to variant rs28928874 [ dbSNP | Ensembl ].
VAR_018653

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi227810. phenotype.
Orphaneti2088. Glycogen storage disease due to GLUT2 deficiency.
PharmGKBiPA35876.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 524524Solute carrier family 2, facilitated glucose transporter member 2PRO_0000050346Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi62 – 621N-linked (GlcNAc...)Sequence Analysis

Post-translational modificationi

N-glycosylated; required for stability and retention at the cell surface of pancreatic beta cells.By similarity

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiP11168.
PaxDbiP11168.
PRIDEiP11168.

PTM databases

PhosphoSiteiP11168.

Expressioni

Tissue specificityi

Liver, insulin-producing beta cell, small intestine and kidney.

Gene expression databases

BgeeiP11168.
CleanExiHS_SLC2A2.
ExpressionAtlasiP11168. baseline and differential.
GenevestigatoriP11168.

Organism-specific databases

HPAiCAB010444.
HPA028997.

Interactioni

Protein-protein interaction databases

BioGridi112405. 2 interactions.
STRINGi9606.ENSP00000323568.

Structurei

3D structure databases

ProteinModelPortaliP11168.
SMRiP11168. Positions 7-487.
ModBaseiSearch...
MobiDBiSearch...

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 1010CytoplasmicSequence Analysis
Topological domaini32 – 9867ExtracellularSequence AnalysisAdd
BLAST
Topological domaini120 – 1278CytoplasmicSequence Analysis
Topological domaini149 – 15810ExtracellularSequence Analysis
Topological domaini180 – 1878CytoplasmicSequence Analysis
Topological domaini209 – 2179ExtracellularSequence Analysis
Topological domaini239 – 30365CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini325 – 33814ExtracellularSequence AnalysisAdd
BLAST
Topological domaini360 – 3689CytoplasmicSequence Analysis
Topological domaini390 – 40011ExtracellularSequence AnalysisAdd
BLAST
Topological domaini422 – 43312CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini455 – 4617ExtracellularSequence Analysis
Topological domaini483 – 52442CytoplasmicSequence AnalysisAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei11 – 3121Helical; Name=1Sequence AnalysisAdd
BLAST
Transmembranei99 – 11921Helical; Name=2Sequence AnalysisAdd
BLAST
Transmembranei128 – 14821Helical; Name=3Sequence AnalysisAdd
BLAST
Transmembranei159 – 17921Helical; Name=4Sequence AnalysisAdd
BLAST
Transmembranei188 – 20821Helical; Name=5Sequence AnalysisAdd
BLAST
Transmembranei218 – 23821Helical; Name=6Sequence AnalysisAdd
BLAST
Transmembranei304 – 32421Helical; Name=7Sequence AnalysisAdd
BLAST
Transmembranei339 – 35921Helical; Name=8Sequence AnalysisAdd
BLAST
Transmembranei369 – 38921Helical; Name=9Sequence AnalysisAdd
BLAST
Transmembranei401 – 42121Helical; Name=10Sequence AnalysisAdd
BLAST
Transmembranei434 – 45421Helical; Name=11Sequence AnalysisAdd
BLAST
Transmembranei462 – 48221Helical; Name=12Sequence AnalysisAdd
BLAST

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni314 – 3207Monosaccharide bindingBy similarity

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG0477.
GeneTreeiENSGT00760000119022.
HOGENOMiHOG000202871.
HOVERGENiHBG014816.
InParanoidiP11168.
KOiK07593.
OMAiMKFLGAT.
OrthoDBiEOG7QVM2R.
PhylomeDBiP11168.
TreeFamiTF313762.

Family and domain databases

InterProiIPR002440. 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]
PfamiPF00083. Sugar_tr. 1 hit.
[Graphical view]
PRINTSiPR01191. GLUCTRSPORT2.
PR00171. SUGRTRNSPORT.
SUPFAMiSSF103473. SSF103473. 3 hits.
TIGRFAMsiTIGR00879. SP. 1 hit.
PROSITEiPS50850. MFS. 1 hit.
PS00216. SUGAR_TRANSPORT_1. 1 hit.
PS00217. SUGAR_TRANSPORT_2. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: P11168-1) [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

        10         20         30         40         50
MTEDKVTGTL VFTVITAVLG SFQFGYDIGV INAPQQVIIS HYRHVLGVPL
60 70 80 90 100
DDRKAINNYV INSTDELPTI SYSMNPKPTP WAEEETVAAA QLITMLWSLS
110 120 130 140 150
VSSFAVGGMT ASFFGGWLGD TLGRIKAMLV ANILSLVGAL LMGFSKLGPS
160 170 180 190 200
HILIIAGRSI SGLYCGLISG LVPMYIGEIA PTALRGALGT FHQLAIVTGI
210 220 230 240 250
LISQIIGLEF ILGNYDLWHI LLGLSGVRAI LQSLLLFFCP ESPRYLYIKL
260 270 280 290 300
DEEVKAKQSL KRLRGYDDVT KDINEMRKER EEASSEQKVS IIQLFTNSSY
310 320 330 340 350
RQPILVALML HVAQQFSGIN GIFYYSTSIF QTAGISKPVY ATIGVGAVNM
360 370 380 390 400
VFTAVSVFLV EKAGRRSLFL IGMSGMFVCA IFMSVGLVLL NKFSWMSYVS
410 420 430 440 450
MIAIFLFVSF FEIGPGPIPW FMVAEFFSQG PRPAALAIAA FSNWTCNFIV
460 470 480 490 500
ALCFQYIADF CGPYVFFLFA GVLLAFTLFT FFKVPETKGK SFEEIAAEFQ
510 520
KKSGSAHRPK AAVEMKFLGA TETV
Length:524
Mass (Da):57,490
Last modified:July 1, 1989 - v1
Checksum:iDA600577207EC083
GO
Isoform 2 (identifier: P11168-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-123: MTEDKVTGTL...FGGWLGDTLG → MHLN

Show »
Length:405
Mass (Da):44,702
Checksum:i41F3A2ADC187753A
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti183 – 1831A → S in BAF83535. (PubMed:14702039)Curated
Sequence conflicti269 – 2691V → I in BAH12783. (PubMed:14702039)Curated
Sequence conflicti374 – 3741S → N in BAF83535. (PubMed:14702039)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti68 – 681P → L.2 Publications
Corresponds to variant rs7637863 [ dbSNP | Ensembl ].
VAR_007169
Natural varianti101 – 1011V → I.
Corresponds to variant rs1800572 [ dbSNP | Ensembl ].
VAR_014718
Natural varianti110 – 1101T → I.2 Publications
Corresponds to variant rs5400 [ dbSNP | Ensembl ].
VAR_014719
Natural varianti197 – 1971V → I in NIDDM; abolishes transport activity of the transporter expressed in Xenopus oocytes. 1 Publication
VAR_018650
Natural varianti389 – 3891L → P in FBS. 1 Publication
VAR_018651
Natural varianti404 – 4041I → T.
Corresponds to variant rs2229608 [ dbSNP | Ensembl ].
VAR_052501
Natural varianti417 – 4171P → L in FBS. 1 Publication
VAR_018652
Natural varianti423 – 4231V → E in FBS. 1 Publication
Corresponds to variant rs28928874 [ dbSNP | Ensembl ].
VAR_018653
Natural varianti478 – 4781L → V.
Corresponds to variant rs5397 [ dbSNP | Ensembl ].
VAR_014720

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 123123MTEDK…GDTLG → MHLN in isoform 2. 1 PublicationVSP_054835Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
J03810 mRNA. Translation: AAA59514.1.
AK290846 mRNA. Translation: BAF83535.1.
AK298418 mRNA. Translation: BAH12783.1.
AK313622 mRNA. Translation: BAG36383.1.
AC061708 Genomic DNA. No translation available.
AC092918 Genomic DNA. No translation available.
CH471052 Genomic DNA. Translation: EAW78499.1.
CCDSiCCDS3215.1. [P11168-1]
PIRiA31318.
RefSeqiNP_000331.1. NM_000340.1. [P11168-1]
NP_001265587.1. NM_001278658.1. [P11168-2]
NP_001265588.1. NM_001278659.1.
UniGeneiHs.167584.

Genome annotation databases

EnsembliENST00000314251; ENSP00000323568; ENSG00000163581. [P11168-1]
GeneIDi6514.
KEGGihsa:6514.
UCSCiuc003fhe.1. human. [P11168-1]

Polymorphism databases

DMDMi121756.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Wikipedia

GLUT2 entry

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
J03810 mRNA. Translation: AAA59514.1 .
AK290846 mRNA. Translation: BAF83535.1 .
AK298418 mRNA. Translation: BAH12783.1 .
AK313622 mRNA. Translation: BAG36383.1 .
AC061708 Genomic DNA. No translation available.
AC092918 Genomic DNA. No translation available.
CH471052 Genomic DNA. Translation: EAW78499.1 .
CCDSi CCDS3215.1. [P11168-1 ]
PIRi A31318.
RefSeqi NP_000331.1. NM_000340.1. [P11168-1 ]
NP_001265587.1. NM_001278658.1. [P11168-2 ]
NP_001265588.1. NM_001278659.1.
UniGenei Hs.167584.

3D structure databases

ProteinModelPortali P11168.
SMRi P11168. Positions 7-487.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 112405. 2 interactions.
STRINGi 9606.ENSP00000323568.

Chemistry

BindingDBi P11168.
ChEMBLi CHEMBL5873.
DrugBanki DB00428. Streptozocin.
GuidetoPHARMACOLOGYi 876.

Protein family/group databases

TCDBi 2.A.1.1.29. the major facilitator superfamily (mfs).

PTM databases

PhosphoSitei P11168.

Polymorphism databases

DMDMi 121756.

Proteomic databases

MaxQBi P11168.
PaxDbi P11168.
PRIDEi P11168.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000314251 ; ENSP00000323568 ; ENSG00000163581 . [P11168-1 ]
GeneIDi 6514.
KEGGi hsa:6514.
UCSCi uc003fhe.1. human. [P11168-1 ]

Organism-specific databases

CTDi 6514.
GeneCardsi GC03M170714.
HGNCi HGNC:11006. SLC2A2.
HPAi CAB010444.
HPA028997.
MIMi 138160. gene.
227810. phenotype.
neXtProti NX_P11168.
Orphaneti 2088. Glycogen storage disease due to GLUT2 deficiency.
PharmGKBi PA35876.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0477.
GeneTreei ENSGT00760000119022.
HOGENOMi HOG000202871.
HOVERGENi HBG014816.
InParanoidi P11168.
KOi K07593.
OMAi MKFLGAT.
OrthoDBi EOG7QVM2R.
PhylomeDBi P11168.
TreeFami TF313762.

Enzyme and pathway databases

Reactomei REACT_13819. Regulation of gene expression in beta cells.
REACT_18325. Regulation of insulin secretion.
REACT_19343. Facilitative Na+-independent glucose transporters.
REACT_212. Glucose transport.
REACT_9441. Hexose transport.

Miscellaneous databases

GenomeRNAii 6514.
NextBioi 25331.
PROi P11168.
SOURCEi Search...

Gene expression databases

Bgeei P11168.
CleanExi HS_SLC2A2.
ExpressionAtlasi P11168. baseline and differential.
Genevestigatori P11168.

Family and domain databases

InterProi 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 ]
Pfami PF00083. Sugar_tr. 1 hit.
[Graphical view ]
PRINTSi PR01191. GLUCTRSPORT2.
PR00171. SUGRTRNSPORT.
SUPFAMi SSF103473. SSF103473. 3 hits.
TIGRFAMsi TIGR00879. SP. 1 hit.
PROSITEi PS50850. MFS. 1 hit.
PS00216. SUGAR_TRANSPORT_1. 1 hit.
PS00217. SUGAR_TRANSPORT_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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] (ISOFORM 1), 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.
    , 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] (ISOFORMS 1 AND 2).
    Tissue: Liver.
  3. "The DNA sequence, annotation and analysis of human chromosome 3."
    Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J.
    , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
    Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "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 (ISOFORM 1), VARIANTS LEU-68 AND ILE-110.
    Tissue: Peripheral blood.
  6. "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.
  7. "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.
  8. "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.
  9. "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.

Entry informationi

Entry nameiGTR2_HUMAN
AccessioniPrimary (citable) accession number: P11168
Secondary accession number(s): A8K481
, B2R936, B7Z547, F8W8V8, Q9UCW9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 1, 1989
Last sequence update: July 1, 1989
Last modified: October 29, 2014
This is version 149 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 3
    Human chromosome 3: 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