SLCtables

SLC2A10

Protein name: GLUT10 Aliases: N/D Substrates: glucose, galactose Transport type: Facilitated transporter Tissue and cellular expression: heart, lung, brain, liver, skeletal muscle, pancreas, placenta, kidney Subcellular expression: N/D Disease: arterial tortuosity syndrome Locus: 20q13.1 Sequence ID: NP_110404.1, NM_030777.3 Gene ID: 81031 Splice variants: N/D

GTR10_HUMAN (UniProt)

Gene names: SLC2A10, GLUT10
Protein names and data: GTR10_HUMAN, Full=Solute carrier family 2, facilitated glucose transporter member 10, Full=Glucose transporter type 10;Short=GLUT-10; Length: 541 a.a., Mass: 56911 Da,
fasta formatted sequence
Function: Facilitative glucose transporter
Disease: (OMIM: 208050 606145) Defects in SLC2A10 are the cause of arterial tortuosity syndrome (ATS) [MIM:208050]. ATS is an autosomal recessive disorder characterized by tortuosity and elongation of major arteries, often resulting in death at young age. Other typical features include aneurysms of large arteries and stenosis of the pulmonary artery, in association with facial features and several connective tissue manifestations such as soft skin and joint laxity. Histopathological findings include fragmentation of elastic fibers in the tunica media of large arteries
Cellular location: Endomembrane system; Multi-pass membrane protein. Cytoplasm, perinuclear region
Tissue specificity: Widely expressed; highest levels in liver and pancreas

Database cross-references

UniProt: O95528
NextBio: 71362
OMIM: 208050 606145
Ensembl: ENST00000359271
GeneCard: GC20P046709
TCDB: 2.A.1.1.59
PharmGenUCSF: SLC2A10
Guide to Pharmacology: SLC2A10 (886)
Class II transporters (886)
HGNC: HGNC:13444

Genetic variants

See also Ensembl:ENST00000359271

81 - 81 S -> R (in ATS). VAR_029535
106 - 106 A -> S (in dbSNP:rs6094438). VAR_029536 6094438
132 - 132 R -> W (in ATS). VAR_042417
142 - 142 G -> V (in ATS). VAR_042418
206 - 206 A -> T (associated with lower insulin level; dbSNP:rs2235491). VAR_029335 2235491
225 - 225 R -> H (in dbSNP:rs34295241). VAR_042419 34295241
231 - 231 R -> Q (in ATS). VAR_042420
246 - 246 G -> E (in ATS). VAR_042421
426 - 426 G -> W (in ATS). VAR_042422
437 - 437 E -> K (in ATS). VAR_042423
445 - 445 G -> E (in ATS). VAR_042424
518 - 518 T -> A (in dbSNP:rs6018008). VAR_024652 6018008
537 - 537 I -> V (in dbSNP:rs7348121). VAR_029537 7348121