SLC30A8

Solute carrier family 30 (zinc transporter), member 8
Identifiers
Symbols	SLC30A8 ; ZNT8; ZnT-8
External IDs	OMIM: 611145 MGI: 2442682 HomoloGene: 13795 GeneCards: SLC30A8 Gene
Gene ontology Molecular function • zinc ion transmembrane transporter activity • protein binding • zinc ion binding • protein homodimerization activity Cellular component • Golgi apparatus • plasma membrane • integral component of membrane • cytoplasmic membrane-bounded vesicle • secretory granule • transport vesicle membrane • secretory granule membrane Biological process • zinc II ion transport • cellular zinc ion homeostasis • response to glucose • insulin secretion • positive regulation of insulin secretion • sequestering of zinc ion • glucose homeostasis • cellular protein metabolic process • transmembrane transport • regulation of vesicle-mediated transport • regulation of sequestering of zinc ion • zinc II ion transmembrane transport Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	169026	239436
Ensembl	ENSG00000164756	ENSMUSG00000022315
UniProt	Q8IWU4	Q8BGG0
RefSeq (mRNA)	NM_001172811	NM_172816
RefSeq (protein)	NP_001166282	NP_766404
Location (UCSC)	Chr 8: 116.95 – 117.18 Mb	Chr 15: 52.3 – 52.34 Mb
PubMed search	[1]	[2]

Solute carrier family 30 (zinc transporter), member 8, also known as SLC30A8, is a human gene 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.

Clinical significance

Association with type 2 diabetes (T2D)

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. 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. Earlier functional studies of SLC30A8 suggested that reduced zinc transport increased T2D risk. 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.

See also

• Solute carrier family

External links

• Type 2 diabetes genes mapped out, BBC News article