SLC2A4 solute carrier family 2 member 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC2A4provided by HGNC
Official Full Name: solute carrier family 2 member 4provided by HGNC
Primary source: HGNC:HGNC:11009
See related: Ensembl:ENSG00000181856 MIM:138190; AllianceGenome:HGNC:11009
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: GLUT4
Summary: This gene is a member of the solute carrier family 2 (facilitated glucose transporter) family and encodes a protein that functions as an insulin-regulated facilitative glucose transporter. In the absence of insulin, this integral membrane protein is sequestered within the cells of muscle and adipose tissue. Within minutes of insulin stimulation, the protein moves to the cell surface and begins to transport glucose across the cell membrane. Mutations in this gene have been associated with noninsulin-dependent diabetes mellitus (NIDDM). [provided by RefSeq, Jul 2008]
Expression: Biased expression in heart (RPKM 32.2), fat (RPKM 24.5) and 6 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17p13.1

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (7281718..7288257)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (7182662..7189200)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (7185037..7191576)

Chromosome 17 - NC_000017.11 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 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?

Picalm, a novel regulator of GLUT4-trafficking in adipose tissue.
Title: Picalm, a novel regulator of GLUT4-trafficking in adipose tissue.
Insulin-Activated Signaling Pathway and GLUT4 Membrane Translocation in hiPSC-Derived Cardiomyocytes.
Title: Insulin-Activated Signaling Pathway and GLUT4 Membrane Translocation in hiPSC-Derived Cardiomyocytes.
GLUT4 localisation with the plasma membrane is unaffected by an increase in plasma free fatty acid availability.
Title: GLUT4 localisation with the plasma membrane is unaffected by an increase in plasma free fatty acid availability.
Phosphorylation of Syntaxin 4 by the Insulin Receptor Drives Exocytic SNARE Complex Formation to Deliver GLUT4 to the Cell Surface.
Title: Phosphorylation of Syntaxin 4 by the Insulin Receptor Drives Exocytic SNARE Complex Formation to Deliver GLUT4 to the Cell Surface.
Regulated dynamic subcellular GLUT4 localization revealed by proximal proteome mapping in human muscle cells.
Title: Regulated dynamic subcellular GLUT4 localization revealed by proximal proteome mapping in human muscle cells.
Effect of an acute long-duration exercise bout on skeletal muscle lipid droplet morphology, GLUT 4 protein, and perilipin protein expression.
Title: Effect of an acute long-duration exercise bout on skeletal muscle lipid droplet morphology, GLUT 4 protein, and perilipin protein expression.
The intracellular helical bundle of human glucose transporter GLUT4 is important for complex formation with ASPL.
Title: The intracellular helical bundle of human glucose transporter GLUT4 is important for complex formation with ASPL.
GLUT4 dispersal at the plasma membrane of adipocytes: a super-resolved journey.
Title: GLUT4 dispersal at the plasma membrane of adipocytes: a super-resolved journey.
Talin1 regulates glucose metabolism and endometrial receptivity via GLUT-4 in patients with polycystic ovary syndrome and insulin resistance.
Title: Talin1 regulates glucose metabolism and endometrial receptivity via GLUT-4 in patients with polycystic ovary syndrome and insulin resistance.
Glucose transporter 4: Insulin response mastermind, glycolysis catalyst and treatment direction for cancer progression.
Title: Glucose transporter 4: Insulin response mastermind, glycolysis catalyst and treatment direction for cancer progression.

Submit: New GeneRIF Correction See all GeneRIFs (175)

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

EBI GWAS Catalog

Description
Genome-wide association study identifies multiple loci influencing human serum metabolite levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism. 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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Nef	nef	HIV-1 Nef inhibits GLUT4 fusion with plasma membrane in insulin-stimulated adipocytes, which leads to inhibition of glucose uptake	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH69198 (e-PCR)
- UniSTS:72058

GDB:178568 (e-PCR)
- UniSTS:155020

NoName (e-PCR)
- UniSTS:486306

SLC2A4_1783 (e-PCR)
- UniSTS:281018

GDB:180271 (e-PCR)
- UniSTS:155067

RH76256 (e-PCR)
- UniSTS:88542

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 D-glucose transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables D-glucose uniporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in D-glucose import	IBA Inferred from Biological aspect of Ancestor more info
involved_in D-glucose import	NAS Non-traceable Author Statement more info	PubMed
involved_in D-glucose transmembrane transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in D-glucose transmembrane transport	TAS Traceable Author Statement more info	PubMed
involved_in amylopectin biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in brown fat cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in carbohydrate metabolic process	TAS Traceable Author Statement more info	PubMed
involved_in cellular response to hypoxia	IEA Inferred from Electronic Annotation more info
involved_in cellular response to insulin stimulus	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to insulin stimulus	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to osmotic stress	IEA Inferred from Electronic Annotation more info
involved_in cellular response to tumor necrosis factor	IEA Inferred from Electronic Annotation more info
involved_in dehydroascorbic acid transport	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within glucose homeostasis	IDA Inferred from Direct Assay more info	PubMed
involved_in glucose homeostasis	IDA Inferred from Direct Assay more info	PubMed
involved_in glucose import in response to insulin stimulus	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within learning or memory	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within_positive_effect long-term memory	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within positive regulation of brain-derived neurotrophic factor receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of synaptic vesicle budding from presynaptic endocytic zone membrane	IEA Inferred from Electronic Annotation more info
involved_in response to ethanol	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within_negative_effect short-term memory	ISS Inferred from Sequence or Structural Similarity more info
involved_in transport across blood-brain barrier	NAS Non-traceable Author Statement more info	PubMed
involved_in white fat cell proliferation	ISS Inferred from Sequence or Structural Similarity more info	PubMed

Component	Evidence Code	Pubs
located_in T-tubule	IEA Inferred from Electronic Annotation more info
located_in clathrin-coated pit	IEA Inferred from Electronic Annotation more info
located_in clathrin-coated vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasmic vesicle membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
is_active_in endomembrane system	IBA Inferred from Biological aspect of Ancestor more info
located_in endomembrane system	ISS Inferred from Sequence or Structural Similarity more info
located_in external side of plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	IEA Inferred from Electronic Annotation more info
located_in insulin-responsive compartment	IDA Inferred from Direct Assay more info	PubMed
located_in insulin-responsive compartment	ISS Inferred from Sequence or Structural Similarity more info
located_in membrane	TAS Traceable Author Statement more info	PubMed
located_in membrane raft	IEA Inferred from Electronic Annotation more info
located_in multivesicular body	IEA Inferred from Electronic Annotation more info
is_active_in perinuclear region of cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	TAS Traceable Author Statement more info
located_in presynapse	IEA Inferred from Electronic Annotation more info
located_in sarcolemma	ISS Inferred from Sequence or Structural Similarity more info
located_in sarcoplasmic reticulum	IEA Inferred from Electronic Annotation more info
located_in trans-Golgi network	IDA Inferred from Direct Assay more info	PubMed
located_in trans-Golgi network transport vesicle	IEA Inferred from Electronic Annotation more info
located_in vesicle membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: solute carrier family 2, facilitated glucose transporter member 4

Names: GLUT-4; glucose transporter type 4, insulin-responsive; insulin-responsive glucose transporter type 4; solute carrier family 2 (facilitated glucose transporter), member 4

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.