SLC2A2 solute carrier family 2 member 2
Gene ID: 6514, updated on 10-Dec-2024Gene type: protein coding
Also known as: GLUT2
- See all available tests in GTR for this gene
- Go to complete Gene record for SLC2A2
- Go to Variation Viewer for SLC2A2 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance. GeneReviews: Not available | |
| Fanconi-Bickel syndrome | See labs |
| Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. GeneReviews: Not available | |
| New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. GeneReviews: Not available | |
| Type 2 diabetes mellitus | See labs |
Genomic context
- Location:
- 3q26.2
- Sequence:
- Chromosome: 3; NC_000003.12 (170996347..171026720, complement)
- Total number of exons:
- 12
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SLC2A2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SLC2A2 database
- Variation ViewerRelated Variants
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