SLC2A2 solute carrier family 2 member 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC2A2provided by HGNC
Official Full Name: solute carrier family 2 member 2provided by HGNC
Primary source: HGNC:HGNC:11006
See related: Ensembl:ENSG00000163581 MIM:138160; AllianceGenome:HGNC:11006
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: GLUT2
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]
Expression: Biased expression in liver (RPKM 193.6), duodenum (RPKM 35.6) and 2 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3q26.2

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (170996347..171026720, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (173780683..173811030, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (170714136..170744509, complement)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The glucose transporter 2 regulates CD8[+] T cell function via environment sensing.
Title: The glucose transporter 2 regulates CD8(+) T cell function via environment sensing.
Association Between the SLC2A2 Gene rs1499821 Polymorphism and Caries Susceptibility.
Title: Association Between the SLC2A2 Gene rs1499821 Polymorphism and Caries Susceptibility.
Decreased expression of Glucagon-like peptide-1 receptor and Sodium-glucose co-transporter 2 in patients with proliferative diabetic retinopathy.
Title: Decreased expression of Glucagon-like peptide-1 receptor and Sodium-glucose co-transporter 2 in patients with proliferative diabetic retinopathy.
Evidence for a Genotype-Phenotype Correlation in Patients with Pathogenic GLUT2 (SLC2A2) Variants.
Title: Evidence for a Genotype-Phenotype Correlation in Patients with Pathogenic GLUT2 (SLC2A2) Variants.
Identification of new GLUT2-selective inhibitors through in silico ligand screening and validation in eukaryotic expression systems.
Title: Identification of new GLUT2-selective inhibitors through in silico ligand screening and validation in eukaryotic expression systems.
Decreased GLUT2 and glucose uptake contribute to insulin secretion defects in MODY3/HNF1A hiPSC-derived mutant beta cells.
Title: Decreased GLUT2 and glucose uptake contribute to insulin secretion defects in MODY3/HNF1A hiPSC-derived mutant β cells.
The top cis-eQTL in liver tissue for SLC2A2 is the variant rs8192675, which displays a significant genetic association with metformin-induced HbA1c levels. The C allele at rs8192675 is associated with reduced SLC2A2, as demonstrated by reporter assays.
Title: Variation in the glucose transporter gene SLC2A2 is associated with glycemic response to metformin.
O(6)-methylguanine DNA methyltransferase and glucose transporter 2 in foregut and hindgut gastrointestinal neuroendocrine neoplasms.
Title: O(6)-methylguanine DNA methyltransferase and glucose transporter 2 in foregut and hindgut gastrointestinal neuroendocrine neoplasms.
Insulinoma induces a hyperinsulinemia-mediated decrease of GLUT2 and GLP1 receptor in normal pancreatic beta-cells.
Title: Insulinoma induces a hyperinsulinemia-mediated decrease of GLUT2 and GLP1 receptor in normal pancreatic β-cells.
Expressions of Carbohydrate Response Element Binding Protein and Glucose Transporters in Liver Cancer and Clinical Significance.
Title: Expressions of Carbohydrate Response Element Binding Protein and Glucose Transporters in Liver Cancer and Clinical Significance.

Submit: New GeneRIF Correction See all GeneRIFs (72)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Fanconi-Bickel syndrome MedGen: C3495427 OMIM: 227810 GeneReviews: Not available	Compare labs
Type II diabetes mellitus MedGen: C0011860 OMIM: 125853 GeneReviews: WFS1 Spectrum Disorder	Compare labs

EBI GWAS Catalog

Description
A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. EBI GWAS Catalog EBI GWAS CatalogPubMed
New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-77535 (e-PCR)
- UniSTS:779

SHGC-77533 (e-PCR)
- UniSTS:14614

WI-11773 (e-PCR)
- UniSTS:12834

GDB:181209 (e-PCR)
- UniSTS:155177

D3S3881 (e-PCR)
- UniSTS:69967

STS-H60870 (e-PCR)
- UniSTS:70551

RH69731 (e-PCR)
- UniSTS:7858

GDB:188623 (e-PCR)
- UniSTS:155571

SLC2A2 (e-PCR), detects polymorphism
- UniSTS:266453

RH68967 (e-PCR)
- UniSTS:52963

GDB:180741 (e-PCR)
- UniSTS:155116

SLC2A2_841 (e-PCR)
- UniSTS:277745

SLC2A2_V153 (e-PCR)
- UniSTS:277745

RH70213 (e-PCR)
- UniSTS:47866

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables D-glucose transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables D-glucose transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables dehydroascorbic acid transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables fructose transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables galactose transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables glucose transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables hexose transmembrane transporter activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
involved_in carbohydrate metabolic process	TAS Traceable Author Statement more info	PubMed
involved_in dehydroascorbic acid transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in dehydroascorbic acid transport	IDA Inferred from Direct Assay more info	PubMed
involved_in fructose transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in galactose transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in glucose import	IBA Inferred from Biological aspect of Ancestor more info
involved_in glucose transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of insulin secretion involved in cellular response to glucose stimulus	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in apical plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
is_active_in brush border	IBA Inferred from Biological aspect of Ancestor more info
located_in cell-cell junction	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: solute carrier family 2, facilitated glucose transporter member 2

Names: glucose transporter type 2, liver; solute carrier family 2 (facilitated glucose transporter), member 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_008108.1 RefSeqGene

Range

5260..35633

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000340.2 → NP_000331.1 solute carrier family 2, facilitated glucose transporter member 2 isoform 1

See identical proteins and their annotated locations for NP_000331.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AC061708, AC092918, J03810

Consensus CDS

CCDS3215.1

UniProtKB/Swiss-Prot

A8K481, B2R936, B7Z547, F8W8V8, P11168, Q9UCW9

Related

ENSP00000323568.3, ENST00000314251.8

Conserved Domains (2) summary

cd06174
Location:98 → 485

MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...

pfam00083
Location:14 → 499

Sugar_tr; Sugar (and other) transporter
NM_001278658.2 → NP_001265587.1 solute carrier family 2, facilitated glucose transporter member 2 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, lacks an alternate exon in the 5' coding region and initiates translation at an alternate start codon, compared to variant 1. It encodes isoform 2 which is shorter and has a distinct N-terminus, compared to isoform 1.

Source sequence(s)

AC061708, AK298418, J03810

UniProtKB/Swiss-Prot

P11168

Conserved Domains (2) summary

cd06174
Location:2 → 366

MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...

pfam00083
Location:5 → 380

Sugar_tr; Sugar (and other) transporter
NM_001278659.2 → NP_001265588.1 solute carrier family 2, facilitated glucose transporter member 2 isoform 3

See identical proteins and their annotated locations for NP_001265588.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR, lacks an alternate exon in the 5' coding region and initiates translation at a downstream start codon, compared to variant 1. It encodes isoform 3 which is shorter at the N-terminus, compared to isoform 1.

Source sequence(s)

AC061708, BC060041, J03810

UniProtKB/TrEMBL

Q6PAU8

Conserved Domains (1) summary

pfam00083
Location:1 → 326

Sugar_tr; Sugar (and other) transporter

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000003.12 Reference GRCh38.p14 Primary Assembly

Range

170996347..171026720 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011513087.3 → XP_011511389.1 solute carrier family 2, facilitated glucose transporter member 2 isoform X1

Conserved Domains (2) summary

cd06174
Location:83 → 470

MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...

pfam00083
Location:70 → 484

Sugar_tr; Sugar (and other) transporter
XM_047448761.1 → XP_047304717.1 solute carrier family 2, facilitated glucose transporter member 2 isoform X2

UniProtKB/TrEMBL

Q6PAU8

Alternate T2T-CHM13v2.0

Genomic

NC_060927.1 Alternate T2T-CHM13v2.0

Range

173780683..173811030 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054347610.1 → XP_054203585.1 solute carrier family 2, facilitated glucose transporter member 2 isoform X1
XM_054347611.1 → XP_054203586.1 solute carrier family 2, facilitated glucose transporter member 2 isoform X2

UniProtKB/TrEMBL

Q6PAU8