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Aliases SLC30A8, ZNT8, ZnT-8, solute carrier family 30 member 8
External IDs OMIM: 611145 MGI: 2442682 HomoloGene: 13795 GeneCards: SLC30A8
RNA expression pattern
PBB GE SLC30A8 gnf1h06210 at fs.png
More reference expression data
Species Human Mouse
RefSeq (mRNA)



RefSeq (protein)



Location (UCSC) Chr 8: 116.95 – 117.18 Mb Chr 15: 52.3 – 52.34 Mb
PubMed search [1] [2]
View/Edit Human View/Edit Mouse

Solute carrier family 30 (zinc transporter), member 8, also known as SLC30A8, is a human gene[3] that codes for a zinc transporter related to insulin secretion in humans. Certain alleles of this gene may increase the risk for developing type 2 diabetes, but a loss-of-function mutation appears to greatly reduce the risk of diabetes.[4]

Clinical significance[edit]

Association with type 2 diabetes (T2D)[edit]

12 rare variants in SLC30A8 have been identified through the sequencing or genotyping of approximately 150,000 individuals from 5 different ancestry groups. SLC30A8 contains a common variant (p.Trp325Arg), which is associated with T2D risk and levels of glucose and proinsulin.[5][6][7] Individuals carrying protein-truncating variants collectively had 65% reduced risk of T2D. Additionally, non-diabetic individuals from Iceland harboring a frameshift variant p. Lys34Serfs*50 demonstrated reduced glucose levels.[4] Earlier functional studies of SLC30A8 suggested that reduced zinc transport increased T2D risk.[8][9] Conversely, loss-of-function mutations in humans indicate that SLC30A8 haploinsufficiency protects against T2D. Therefore, ZnT8 inhibition can serve as a therapeutic strategy in preventing T2D.[4]

See also[edit]


  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ "Entrez Gene: SLC30A8 solute carrier family 30 (zinc transporter), member 8". 
  4. ^ a b c Flannick, Jason; et al. (2014). "Loss-of-function mutations in SLC30A8 protect against type 2 diabetes". Nature Genetics. 46: 357–363. PMC 4051628Freely accessible. PMID 24584071. doi:10.1038/ng.2915. 
  5. ^ Dupis, J.; et al. (Feb 2010). "New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.". Nature Genetics. 42 (2): 105–16. PMC 3018764Freely accessible. PMID 20081858. doi:10.1038/ng.520. 
  6. ^ Strawbridge, R.J.; et al. (October 2011). "Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes.". Diabetes. 60 (10): 2624–34. PMC 3178302Freely accessible. PMID 21873549. doi:10.2337/db11-0415. 
  7. ^ Morris, A.P.; et al. (Sep 2012). "Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes.". Nature Genetics. 44 (9): 981–90. PMC 3442244Freely accessible. PMID 22885922. doi:10.1038/ng.2383. 
  8. ^ Nicolson, T.J.; et al. (Sep 2009). "Insulin storage and glucose homeostasis in mice null for the granule zinc transporter ZnT8 and studies of the type 2 diabetes–associated variants.". Diabetes. 58 (9): 2070–83. PMC 2731533Freely accessible. PMID 19542200. doi:10.2337/db09-0551. 
  9. ^ Rutter, G.A.; et al. "Think zinc: new roles for zinc in the control of insulin secretion.". Islets. 2 (1): 49–50. PMID 21099294. doi:10.4161/isl.2.1.10259. 

Further reading[edit]

External links[edit]