Property Summary

NCBI Gene PubMed Count 28
Grant Count 44
R01 Count 14
Funding $4,658,301.67
PubMed Score 23.63
PubTator Score 37.66

Knowledge Summary

Patent

No data available

Expression

Gene RIF (22)

PMID Text
26376865 GLUT10 deficiency leads to oxidative stress and non-canonical alphavbeta3 integrin-mediated TGFbeta signalling associated with extracellular matrix disarray in arterial tortuosity syndrome skin fibroblasts
25373504 100 ATS patients have been described, and 21 causal mutations have been identified in the SLC2A10 gene. Study expanded the allelic repertoire of SLC2A10 by identifying two novel mutations.
25078964 Two SNPs replicated: the paternal rs2471083-C allele (located near the imprinted KCNK9 gene) and the paternal rs3091869-T allele (located near the SLC2A10 gene) increased BMI equally (beta = 0.11 (SD), P<0.0027)
22001912 Data show that homozygous and compound heterozygous changes found in PLOD1 and SLC2A10 may confer autosomal recessive effects, and three MYH11, ACTA2 and COL3A1 heterozygous variants were considered as putative pathogenic gene alterations.
20735855 Our data demonstrate that genetic polymorphism of the SLC2A10 gene is an independent risk factor for PAD in type 2 diabetes.
20735855 Observational study of gene-disease association. (HuGE Navigator)
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
18818946 Patients of Kurdish origin who display arterial tortuosity associated with skin hyperextensibility, joint hypermobility, and characteristic facial features may carry a novel non-sense mutationin in the SLC2A10 gene.
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AA Sequence

MGHSPPVLPLCASVSLLGGLTFGYELAVISGALLPLQLDFGLSCLEQEFLVGSLLLGALLASLVGGFLID      1 - 70
CYGRKQAILGSNLVLLAGSLTLGLAGSLAWLVLGRAVVGFAISLSSMACCIYVSELVGPRQRGVLVSLYE     71 - 140
AGITVGILLSYALNYALAGTPWGWRHMFGWATAPAVLQSLSLLFLPAGTDETATHKDLIPLQGGEAPKLG    141 - 210
PGRPRYSFLDLFRARDNMRGRTTVGLGLVLFQQLTGQPNVLCYASTIFSSVGFHGGSSAVLASVGLGAVK    211 - 280
VAATLTAMGLVDRAGRRALLLAGCALMALSVSGIGLVSFAVPMDSGPSCLAVPNATGQTGLPGDSGLLQD    281 - 350
SSLPPIPRTNEDQREPILSTAKKTKPHPRSGDPSAPPRLALSSALPGPPLPARGHALLRWTALLCLMVFV    351 - 420
SAFSFGFGPVTWLVLSEIYPVEIRGRAFAFCNSFNWAANLFISLSFLDLIGTIGLSWTFLLYGLTAVLGL    421 - 490
GFIYLFVPETKGQSLAEIDQQFQKRRFTLSFGHRQNSTGIPYSRIEISAAS                       491 - 541
//

Text Mined References (28)

PMID Year Title
26376865 2015 GLUT10 deficiency leads to oxidative stress and non-canonical ?v?3 integrin-mediated TGF? signalling associated with extracellular matrix disarray in arterial tortuosity syndrome skin fibroblasts.
25373504 2014 Arterial Tortuosity Syndrome: homozygosity for two novel and one recurrent SLC2A10 missense mutations in three families with severe cardiopulmonary complications in infancy and a literature review.
25078964 2014 Novel approach identifies SNPs in SLC2A10 and KCNK9 with evidence for parent-of-origin effect on body mass index.
22001912 2012 Rapid detection of gene mutations responsible for non-syndromic aortic aneurysm and dissection using two different methods: resequencing microarray technology and next-generation sequencing.
20735855 2010 SLC2A10 genetic polymorphism predicts development of peripheral arterial disease in patients with type 2 diabetes. SLC2A10 and PAD in type 2 diabetes.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
18818946 2009 A novel non-sense mutation in the SLC2A10 gene of an arterial tortuosity syndrome patient of Kurdish origin.
18774132 2009 A novel missense and a recurrent mutation in SLC2A10 gene of patients affected with arterial tortuosity syndrome.
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