This gene encodes an integral plasma membrane glycoprotein of the liver, islet beta cells, intestine, and kidney epithelium. The encoded protein mediates facilitated bidirectional glucose transport. Because of its low affinity for glucose, it has been suggested as a glucose sensor. Mutations in this gene are associated with susceptibility to diseases, including Fanconi-Bickel s... See more...

Aliases for SLC2A2 Gene

Aliases for SLC2A2 Gene

  • Solute Carrier Family 2 Member 2 2 3 5
  • Solute Carrier Family 2 (Facilitated Glucose Transporter), Member 2 2 3
  • Solute Carrier Family 2, Facilitated Glucose Transporter Member 2 3 4
  • Glucose Transporter Type 2, Liver 3 4
  • GLUT2 3 4
  • GLUT-2 4

External Ids for SLC2A2 Gene

Previous HGNC Symbols for SLC2A2 Gene

  • GLUT2

Previous GeneCards Identifiers for SLC2A2 Gene

  • GC03M167856
  • GC03M171763
  • GC03M172116
  • GC03M172035
  • GC03M172196
  • GC03M170714
  • GC03M168084
  • GC03M170996
  • GC03M170998
  • GC03M171016
  • GC03M171018
  • GC03M171019
  • GC03M171000
  • GC03M171002
  • GC03M171004
  • GC03M171006
  • GC03M171008
  • GC03M171010
  • GC03M171012
  • GC03M171014

Summaries for SLC2A2 Gene

Entrez Gene Summary for SLC2A2 Gene

  • This gene encodes an integral plasma membrane glycoprotein of the liver, islet beta cells, intestine, and kidney epithelium. The encoded protein mediates facilitated bidirectional glucose transport. Because of its low affinity for glucose, it has been suggested as a glucose sensor. Mutations in this gene are associated with susceptibility to diseases, including Fanconi-Bickel syndrome and noninsulin-dependent diabetes mellitus (NIDDM). Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]

GeneCards Summary for SLC2A2 Gene

SLC2A2 (Solute Carrier Family 2 Member 2) is a Protein Coding gene. Diseases associated with SLC2A2 include Fanconi-Bickel Syndrome and Diabetes Mellitus, Noninsulin-Dependent. Among its related pathways are Cori Cycle and Hexose transport. Gene Ontology (GO) annotations related to this gene include transmembrane transporter activity and glucose transmembrane transporter activity. An important paralog of this gene is SLC2A1.

UniProtKB/Swiss-Prot Summary for SLC2A2 Gene

  • Facilitative hexose transporter that mediates the transport of glucose and fructose (PubMed:8027028, PubMed:16186102, PubMed:23396969, PubMed:28083649). 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 (PubMed:8027028). May also participate with the Na(+)/glucose cotransporter in the transcellular transport of glucose in the small intestine and kidney (PubMed:3399500). Also able to mediate the transport of dehydroascorbate (PubMed:23396969).

Additional gene information for SLC2A2 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC2A2 Gene

Genomics for SLC2A2 Gene

GeneHancer (GH) Regulatory Elements for SLC2A2 Gene

Promoters and enhancers for SLC2A2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J171021 Promoter/Enhancer 1.6 EPDnew ENCODE CraniofacialAtlas dbSUPER 500.7 +1.4 1420 8.9 POLR2G JUND HES1 POLR2A NR2F2 FOXA2 USF1 CEBPG SAP130 ZBTB33 SLC2A2 MIR569 TNIK RPL22L1 RF00017-4165 ENSG00000286856
GH03J171013 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 19.5 +9.9 9856 7.4 EP300 CTCF TCF12 NCOR1 KDM6A TCF7 FOXA1 HES1 ZBTB25 SMARCC2 RF00017-4165 SLC2A2 RPL22L1 lnc-TNIK-3 ENSG00000286856
GH03J171456 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 9.4 -432.7 -432655 6 EP300 CTCF SIN3A NRF1 SP1 GTF2E2 TEAD4 ZNF10 ZIC2 REST TNIK ENSG00000240497 ENSG00000279673 LOC102724479 SLC2A2
GH03J170996 Enhancer 1.3 Ensembl ENCODE dbSUPER 11.8 +26.0 26017 8.3 EP300 FOXK2 TCF12 POLR2G NCOR1 JUND FOS REST KDM6A TCF7 SLC2A2 RNU1-70P RF00003-057 lnc-TNIK-3 ENSG00000286856
GH03J171165 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 10.6 -143.3 -143265 10.5 CTCF USF1 NCOR1 TCF7 RFX1 ZBTB25 ZBTB26 NFYB ZKSCAN8 ZNF341 SLC2A2 TNIK PRKCI HSALNG0030661 ENSG00000222506
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC2A2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC2A2

Top Transcription factor binding sites by QIAGEN in the SLC2A2 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • Cdc5
  • CUTL1
  • HNF-4alpha1
  • HNF-4alpha2
  • Lhx3a
  • LHX3b
  • Max

Genomic Locations for SLC2A2 Gene

Genomic Locations for SLC2A2 Gene
chr3:170,995,365-171,026,979
(GRCh38/hg38)
Size:
31,615 bases
Orientation:
Minus strand
chr3:170,714,137-170,744,768
(GRCh37/hg19)
Size:
30,632 bases
Orientation:
Minus strand

Genomic View for SLC2A2 Gene

Genes around SLC2A2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC2A2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC2A2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC2A2 Gene

Proteins for SLC2A2 Gene

  • Protein details for SLC2A2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P11168-GTR2_HUMAN
    Recommended name:
    Solute carrier family 2, facilitated glucose transporter member 2
    Protein Accession:
    P11168
    Secondary Accessions:
    • A8K481
    • B2R936
    • B7Z547
    • F8W8V8
    • Q9UCW9

    Protein attributes for SLC2A2 Gene

    Size:
    524 amino acids
    Molecular mass:
    57490 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SLC2A2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC2A2 Gene

Post-translational modifications for SLC2A2 Gene

  • N-glycosylated; required for stability and retention at the cell surface of pancreatic beta cells.
  • Glycosylation at Asn62
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC2A2 Gene

No data available for DME Specific Peptides for SLC2A2 Gene

Domains & Families for SLC2A2 Gene

Gene Families for SLC2A2 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLC2A2 Gene

Blocks:
  • Sugar transporter superfamily
  • Sugar transporter signature
  • Mammalian facilitated glucose transporter family signature
  • Glucose transporter type 2 (GLUT2) signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SLC2A2 Gene

GenScript: Design optimal peptide antigens:
  • Glucose transporter type 2, liver (GTR2_HUMAN)
  • cDNA FLJ75366, highly similar to Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 2, mRNA (Q6PAU8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P11168

UniProtKB/Swiss-Prot:

GTR2_HUMAN :
  • Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily.
Family:
  • Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily.
genes like me logo Genes that share domains with SLC2A2: view

Function for SLC2A2 Gene

Molecular function for SLC2A2 Gene

UniProtKB/Swiss-Prot Function:
Facilitative hexose transporter that mediates the transport of glucose and fructose (PubMed:8027028, PubMed:16186102, PubMed:23396969, PubMed:28083649). 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 (PubMed:8027028). May also participate with the Na(+)/glucose cotransporter in the transcellular transport of glucose in the small intestine and kidney (PubMed:3399500). Also able to mediate the transport of dehydroascorbate (PubMed:23396969).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=D-glucose(out) = D-glucose(in); Xref=Rhea:RHEA:60376, ChEBI:CHEBI:4167; Evidence={ECO:0000269 PubMed:23396969, ECO:0000269 PubMed:28083649};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=D-fructose(out) = D-fructose(in); Xref=Rhea:RHEA:60372, ChEBI:CHEBI:37721; Evidence={ECO:0000269 PubMed:23396969, ECO:0000269 PubMed:28083649};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=L-dehydroascorbate(out) = L-dehydroascorbate(in); Xref=Rhea:RHEA:60380, ChEBI:CHEBI:58539; Evidence=. ;.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=3.23 mM for dehydroascorbate {ECO:0000269 PubMed:23396969};
GENATLAS Biochemistry:
solute carrier family 2,member A2,facilitated glucose transporter

Phenotypes From GWAS Catalog for SLC2A2 Gene

Gene Ontology (GO) - Molecular Function for SLC2A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005353 fructose transmembrane transporter activity IDA 23396969
GO:0005355 glucose transmembrane transporter activity IDA,IEA 23396969
GO:0022857 transmembrane transporter activity IEA --
GO:0033300 dehydroascorbic acid transmembrane transporter activity IDA 23396969
GO:0055056 D-glucose transmembrane transporter activity IEA --
genes like me logo Genes that share ontologies with SLC2A2: view
genes like me logo Genes that share phenotypes with SLC2A2: view

Human Phenotype Ontology for SLC2A2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SLC2A2 Gene

MGI Knock Outs for SLC2A2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC2A2

Clone Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for SLC2A2 Gene

Localization for SLC2A2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC2A2 Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC2A2 gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytoskeleton 2
mitochondrion 2
peroxisome 2
nucleus 2
endoplasmic reticulum 2
cytosol 2
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SLC2A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 8027028
GO:0005903 brush border IEA --
GO:0005911 cell-cell junction IEA --
genes like me logo Genes that share ontologies with SLC2A2: view

Pathways & Interactions for SLC2A2 Gene

genes like me logo Genes that share pathways with SLC2A2: view

SIGNOR curated interactions for SLC2A2 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for SLC2A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process TAS 8027028
GO:0008643 carbohydrate transport IEA --
GO:0008645 hexose transmembrane transport TAS --
GO:0015755 fructose transmembrane transport IDA 23396969
GO:0050796 regulation of insulin secretion TAS --
genes like me logo Genes that share ontologies with SLC2A2: view

Drugs & Compounds for SLC2A2 Gene

(24) Drugs for SLC2A2 Gene - From: DrugBank, PharmGKB, ApexBio, DGIdb, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Streptozocin Approved, Investigational Pharma Target, ligand Antibiotic and antitumor agent 12
Dextrose, unspecified form Approved, Vet_approved Pharma Transporter, substrate 0
D-glucose Approved, Investigational, Vet_approved Pharma Transporter, substrate 0
Fludeoxyglucose (18F) Approved, Investigational Pharma Transporter, substrate 0
Metformin Approved Pharma AMP-activated protein kinase (AMPK) activator 2154

(19) Additional Compounds for SLC2A2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(1) ApexBio Compounds for SLC2A2 Gene

Compound Action Cas Number
Empagliflozin (BI 10773) SGLT-2 inhibitor for oral treatment of type 2 diabetes 864070-44-0
genes like me logo Genes that share compounds with SLC2A2: view

Drug Products

Transcripts for SLC2A2 Gene

mRNA/cDNA for SLC2A2 Gene

3 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC2A2

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC2A2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b
SP1:
SP2: -

Relevant External Links for SLC2A2 Gene

GeneLoc Exon Structure for
SLC2A2

Expression for SLC2A2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLC2A2 Gene

mRNA differential expression in normal tissues according to GTEx for SLC2A2 Gene

This gene is overexpressed in Liver (x46.4).

Protein differential expression in normal tissues from HIPED for SLC2A2 Gene

This gene is overexpressed in Liver (20.5), Uterus (17.1), Fetal Liver (15.8), and Gallbladder (10.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SLC2A2 Gene



Protein tissue co-expression partners for SLC2A2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC2A2

SOURCE GeneReport for Unigene cluster for SLC2A2 Gene:

Hs.167584

mRNA Expression by UniProt/SwissProt for SLC2A2 Gene:

P11168-GTR2_HUMAN
Tissue specificity: Liver, insulin-producing beta cell, small intestine and kidney.

Evidence on tissue expression from TISSUES for SLC2A2 Gene

  • Liver(4.8)
  • Kidney(4.6)
  • Blood(4.4)
  • Intestine(3.4)
  • Pancreas(3.2)
  • Nervous system(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC2A2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
Thorax:
  • chest wall
  • clavicle
  • diaphragm
  • heart
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • biliary tract
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • stomach
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with SLC2A2: view

Orthologs for SLC2A2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SLC2A2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC2A2 31 30
  • 99.43 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SLC2A2 31 30
  • 86.83 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SLC2A2 31 30
  • 85.68 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Slc2a2 17 31 30
  • 81.77 (n)
rat
(Rattus norvegicus)
Mammalia Slc2a2 30
  • 81.29 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC2A2 31
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC2A2 31
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC2A2 31 30
  • 66.54 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC2A2 31
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc2a2 30
  • 69.05 (n)
Str.10072 30
zebrafish
(Danio rerio)
Actinopterygii slc2a2 31 30
  • 62.05 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta sut1 32
  • 31 (a)
CG7882 32
  • 30 (a)
sut3 32
  • 29 (a)
sut2 32
  • 28 (a)
Glut1 31 32
  • 27 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea fgt-1 31
  • 39 (a)
ManyToMany
H17B01.1a 32
  • 39 (a)
H17B01.1b 32
  • 39 (a)
R09B5.11 31 32
  • 35 (a)
ManyToMany
F53H8.3 31
  • 26 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 31
  • 27 (a)
ManyToMany
VPS73 31
  • 26 (a)
ManyToMany
SNF3 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7972 31
  • 41 (a)
OneToMany
Species where no ortholog for SLC2A2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SLC2A2 Gene

ENSEMBL:
Gene Tree for SLC2A2 (if available)
TreeFam:
Gene Tree for SLC2A2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC2A2: view image

Paralogs for SLC2A2 Gene

(12) SIMAP similar genes for SLC2A2 Gene using alignment to 6 proteins:

  • GTR2_HUMAN
  • C9J0E8_HUMAN
  • F8W8V8_HUMAN
  • F8WBJ2_HUMAN
  • L8E6W0_HUMAN
  • Q6PAU8_HUMAN
genes like me logo Genes that share paralogs with SLC2A2: view

Variants for SLC2A2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC2A2 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
16102 Pathogenic: Fanconi-Bickel syndrome 171,014,733(-) T/C SPLICE_ACCEPTOR_VARIANT,INTRON_VARIANT
654188 Uncertain Significance: Fanconi-Bickel syndrome 171,010,075(-) C/A MISSENSE_VARIANT,INTRON_VARIANT
681470 Likely Benign: not provided 171,005,271(-) G/A INTRON_VARIANT
712786 Likely Benign: not provided 171,018,632(-) G/C INTRON_VARIANT
723396 Likely Benign: not provided 171,005,934(-) C/T INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for SLC2A2 Gene

Structural Variations from Database of Genomic Variants (DGV) for SLC2A2 Gene

Variant ID Type Subtype PubMed ID
dgv1427e212 CNV loss 25503493
dgv1428e212 CNV loss 25503493
dgv2839e59 CNV tandem duplication 20981092
esv3390925 CNV duplication 20981092
nsv236991 CNV deletion 16902084
nsv477726 CNV novel sequence insertion 20440878
nsv509866 OTHER sequence alteration 20534489
nsv7356 OTHER inversion 18451855

Variation tolerance for SLC2A2 Gene

Residual Variation Intolerance Score: 34.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.17; 84.75% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC2A2 Gene

Human Gene Mutation Database (HGMD)
SLC2A2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC2A2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC2A2 Gene

Disorders for SLC2A2 Gene

MalaCards: The human disease database

(28) MalaCards diseases for SLC2A2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
fanconi-bickel syndrome
  • fbs
diabetes mellitus, noninsulin-dependent
  • niddm
rare diabetes mellitus type 2
  • rare insulin-independent diabetes mellitus
diabetes mellitus
  • diabetes
renal glucosuria
  • glys
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

GTR2_HUMAN
  • 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. {ECO:0000269 PubMed:10987651, ECO:0000269 PubMed:11044475}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for SLC2A2 Gene

glycogen storage disease,hepatorenal with tubular nephropathy and impaired utilization of glucose and galactose,Fanconi-Bickel syndrome

Additional Disease Information for SLC2A2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SLC2A2: view

Publications for SLC2A2 Gene

  1. Physical activity modifies the effect of SNPs in the SLC2A2 (GLUT2) and ABCC8 (SUR1) genes on the risk of developing type 2 diabetes. (PMID: 17636114) Kilpeläinen TO … Finnish Diabetes Prevention Study Group (Physiological genomics 2007) 3 23 41 54
  2. Polymorphisms in the SLC2A2 (GLUT2) gene are associated with the conversion from impaired glucose tolerance to type 2 diabetes: the Finnish Diabetes Prevention Study. (PMID: 15983230) Laukkanen O … Finnish Diabetes Prevention Study (Diabetes 2005) 3 23 41 54
  3. Analysis of polymorphism of the GLUT2 promoter in NIDDM patients and its functional consequence to the promoter activity. (PMID: 12017192) Cha JY … Ahn YH (Annals of clinical and laboratory science 2002) 3 23 41 54
  4. Studies of genetic variability of the glucose transporter 2 promoter in patients with type 2 diabetes mellitus. (PMID: 11344224) Møller AM … Pedersen O (The Journal of clinical endocrinology and metabolism 2001) 3 23 41 54
  5. Mutation analysis of the GLUT2 gene in patients with Fanconi-Bickel syndrome. (PMID: 11044475) Sakamoto O … Iinuma K (Pediatric research 2000) 3 4 23 54

Products for SLC2A2 Gene

Sources for SLC2A2 Gene