SLC2A4

Gene Information
 
Gene Symbol
SLC2A4
 
Aliases
GLUT4
 
Entrez Gene ID
 
Gene Name
Solute carrier family 2 (facilitated glucose transporter), member 4
 
Chromosomal Location
17p13
 
HGNC ID
 
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)
 
GeneCards ID
 
UniGene
 
RefSeq DNA
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Definition Evidence Reference
GO:0042593 Biological process Glucose homeostasis IDA 17003346
GO:0046323 Biological process Glucose import NAS 11742412
GO:0005624 Cellular component Membrane fraction TAS 2649253
GO:0009897 Cellular component External side of plasma membrane IDA 14562105
GO:0012506 Cellular component Vesicle membrane IDA 14562105
Protein Information
 
Protein Name
Solute carrier family 2, facilitated glucose transporter member 4
 
Function
Insulin-regulated facilitative glucose transporter
 
Refseq Proteins
 
UniProt
 
InterPro
 
Pfam
Pfam Accession Pfam ID
PF00083 Sugar_tr Sugar (and other) transporter
 
KEGG
 
OMIM
 
Phenotype MIM ID
 
Interactions

Associated Diseases

Diseases References
Cancer (carcinoma) 8314336, 15907336, 9269300
Diabetes mellitus 8325952, 8319581, 17119268, 18778861, 7814014, 10778531, 11681787, 9855697, 1397719, 10319913, 19389739
Hyperinsulinism 10923281, 17603492, 10207720, 9222646, 15855352, 17235527, 15331560, 15657373, 18812636, 22314079, 23685425, 22621829, 20504873, 21270326, 19240152, 17445806, 24040456, 22564702, 22575725, 23748472, 21853931, 22527903, 21827375, 20840271, 20130411, 20045799, 19549442, 18680073, 17141766, 16785159, 16600233, 16316841, 15853827, 15472214, 14671186, 12615821, 11836319, 19681917, 15717879, 15660727, 17420421, 7652727, 15208835, 16980199, 16334591, 18974244, 14764276, 17023708, 15159251, 9590566, 20001427, 19114407, 14976002, 9861517, 8462390, 1736105, 18309108, 17954428, 16506274, 14968294, 12627878, 18779682, 16581078, 9240771, 19138313, 16259222, 12957327, 16054467, 9100707, 17368007, 1457758, 7981184, 10707556, 9270410, 8856394, 12150695, 12692007, 19015938, 18775353, 18640389, 17873318, 17320517, 17183416, 17218834, 15998260, 15579783, 16820727, 16392771, 16319655, 14647894, 14553866, 11997182, 14739074, 12647277, 12408408, 12365467, 10821297, 10440591, 10374288, 8299479, 19149565, 7828781, 2065046, 19572942, 19421860, 19564534, 18927552, 18296327, 17826042, 17760500, 17259501, 16522281, 15075712, 12877091, 12702035, 12675638, 8949974, 19731182, 19164269, 17952838, 16839860, 15590982, 14626524, 12610050, 12540621, 12148078, 10024191, 8964200, 7782801, 20513276, 19369429, 19214921, 18772854, 16697386, 17181562, 15258201, 15047659, 8736268, 19218574, 17083810, 12042261, 9439531, 19947235, 11820995, 15073570, 18486583, 17119001, 17054989, 17341558, 19501863, 16034410, 17656599, 17726085, 18081728, 18381580, 18487287, 17416795, 19537932, 19190263, 17595259, 19003725, 17550959, 18641048, 19501859, 17003346, 18783798, 17875187, 18493106, 18397979, 17721906, 17492427, 20037278, 18052678, 18426837, 18584408, 17970534, 18796616, 18334592, 17890490, 17640906, 19369430, 19264371, 17618858, 17065684, 19215278, 18710473, 17456573, 20222849, 18426814, 17411394, 19088257, 17337499, 18199128, 22397743, 15886251, 20889251, 22068557, 8671472, 11600878, 10418705, 2350207, 11460890, 15638873, 15820714, 20011249, 20406953
Hypertrophy 20010125
Inflammation 17317207, 18840759, 17107852, 19669948, 19219422, 19143033
   
References
 
Primary:
 
Supporting Literature:
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
IR 
Hyperinsulinemic  
 
Rotterdam criteria, Androgen Excess Society criteria 
Related 
7 hyperinsulinemic PCOS,7 normoinsulinemic PCOS and 7 control 
The diminished expression of GLUT4, as well as the lower level of pIRS-1Y612 and pAS160T642 exhibited by PCOSE-HI, suggests a disruption in the translocation of vesicles with GLUT4 to the cell surface in these patients. 
FOXO1 and PPARG 
Hyperinsulinemic  
 
 
Related 
7 PCOS and 7 control 
Derepression of PPARG transcription by the high levels of p-FOXO1Ser319 could partially account for the lower levels of SLC2A4 found in PCOSE h-Ins 
 
 
 
 
Related 
20 control and 21 PCOS 
These individuals have mutations in both HSD11B1 and H6PD in a triallelic digenic model of inheritance, resulting in low 11beta-HSD1 expression and ER NADPH generation with loss of 11beta-HSD1 oxo-reductase activity. CRD defines a new ER-specific redox potential and establishes H6PDH as a potential factor in the pathogenesis of PCOS. 
 
 
 
 
Related 
18 PCOS and 9 controls  
endometrial GLUT4 expression is not affected by PCOS itself, whereas it is reduced by obesity in PCOS patients 
IR and n-INS 
 
 
PCOS was diagnosed with a combination of these clinical, biological, and ultrasonographic parameters: 1) oligomenorrhea (seven or fewer menstrual periods in the previous year); 2) hirsutism (hormonal score > 10 by the Ferriman-Gallwey modified method); 3) 
Related 
8 Lean and 10 obese Normoinsulineamic PCOS,9 lean and 8 obese hyperinsulinemic and 9 control 
GLUT4 is present in the endometrium of normal and PCOS subjects and that hyperinsulinism and obesity seem to have a negative effect on endometrial GLUT4 expression in PCOS 

Unreviewed Literature:

PubMed / PMC ID
Title Type of study
25064406
Association of abdominal obesity, insulin resistance, and oxidative stress in adipose tissue in women with polycystic ovary syndrome. 
Clinical study 
24842895
Lifestyle intervention up-regulates gene and protein levels of molecules involved in insulin signaling in the endometrium of overweight/obese women with polycystic ovary syndrome. 
Clinical study 
24643692
Spironolactone and dimethylsulfoxide effect on glucose metabolism and oxidative stress markers in polycystic ovarian syndrome rat model. 
Effect of treatment 
24480115
Metformin modulates PI3K and GLUT4 expression and Akt/PKB phosphorylation in human endometrial stromal cells after stimulation with androgen and insulin. 
Effect of treatment 
24472754
Dihydrotestosterone deteriorates cardiac insulin signaling and glucose transport in the rat model of polycystic ovary syndrome. 
Animal study 

 

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