SLCtables

SLC2A4

Protein name: GLUT4 Aliases: N/D Substrates: glucose, glucosamine Transport type: Facilitated transporter Tissue and cellular expression: adipose tissue (white, brown), skeletal, cardiac muscle Subcellular expression: N/D Disease: (type 2 diabetes) Locus: 17p13 Sequence ID: NP_001033.1, NM_001042.2 Gene ID: 6517 Splice variants: N/D

GTR4_HUMAN (UniProt)

Gene names: SLC2A4, GLUT4
Protein names and data: GTR4_HUMAN, Full=Solute carrier family 2, facilitated glucose transporter member 4, Full=Glucose transporter type 4, insulin-responsive;Short=GLUT-4; Length: 509 a.a., Mass: 54787 Da,
fasta formatted sequence
Function: Insulin-regulated facilitative glucose transporter
Disease: (OMIM: 125853 138190) Defects in SLC2A4 may be a cause of noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]. Defects in SLC2A4 may be a cause of certain post-receptor defects in NIDDM. The variant in position Ile-383 is found in a small number of NIDDM patients, but seems not to be found in nondiabetic subjects
Cellular location: Endomembrane system; Multi-pass membrane protein. Cytoplasm, perinuclear region. Note=Localizes primarily to the perinuclear region, undergoing continued recycling to the plasma membrane where it is rapidly reinternalized. The dileucine internalization motif is critical for intracellular sequestration
Tissue specificity: Skeletal and cardiac muscles; brown and white fat

Database cross-references

UniProt: P14672
NextBio: 25341
OMIM: 125853 138190
Ensembl: ENST00000317370
GeneCard: GC17P007282
PharmGenUCSF: SLC2A4
Guide to Pharmacology: SLC2A4 (878)
Class I transporters (878)
HGNC: HGNC:11009

Genetic variants

See also Ensembl:ENST00000317370

55 - 55 S -> R (in dbSNP:rs35198331). VAR_052503 35198331
78 - 78 T -> S (in dbSNP:rs5434). VAR_012060 5434
358 - 358 A -> V (in dbSNP:rs8192702). VAR_020336 8192702
383 - 383 V -> I (in NIDDM). VAR_007170
385 - 385 I -> T. VAR_007171