Zinc transporter 8
| SLC30A8 | |||
|---|---|---|---|
| Identifiers | |||
Gene ontology | |||
| Molecular function | |||
| Cellular component | |||
| Biological process |
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| Sources:Amigo / QuickGO | |||
Ensembl | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| UniProt | |||||||||
| RefSeq (mRNA) | |||||||||
| RefSeq (protein) | |||||||||
| Location (UCSC) | Chr 8: 116.95 – 117.18 Mb | Chr 15: 52.16 – 52.2 Mb | |||||||
| PubMed search | [3] | [4] | |||||||
| View/Edit Human | View/Edit Mouse |
Zinc transporter 8 (ZNT8) is a
Clinical significance
Association with type 2 diabetes (T2D)
Twelve 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.[7][8][9] 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.[6] Earlier functional studies of SLC30A8 suggested that reduced zinc transport increased T2D risk.[10][11] 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.[6]
See also
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000164756 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000022315 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Entrez Gene: SLC30A8 solute carrier family 30 (zinc transporter), member 8".
- ^ PMID 24584071.
- PMID 20081858.
- PMID 21873549.
- PMID 22885922.
- PMID 19542200.
- PMID 21099294.
Further reading
- Chimienti F, Favier A, Seve M (2006). "ZnT-8, a pancreatic beta-cell-specific zinc transporter". Biometals. 18 (4): 313–7. S2CID 25680038.
- Hartley JL, Temple GF, Brasch MA (2001). "DNA cloning using in vitro site-specific recombination". Genome Res. 10 (11): 1788–95. PMID 11076863.
- Wiemann S, Weil B, Wellenreuther R, et al. (2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome Res. 11 (3): 422–35. PMID 11230166.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. PMID 12477932.
- Seve M, Chimienti F, Devergnas S, Favier A (2004). "In silico identification and expression of SLC30 family genes: an expressed sequence tag data mining strategy for the characterization of zinc transporters' tissue expression". BMC Genomics. 5 (1): 32. PMID 15154973.
- Chimienti F, Devergnas S, Favier A, Seve M (2004). "Identification and cloning of a beta-cell-specific zinc transporter, ZnT-8, localized into insulin secretory granules". Diabetes. 53 (9): 2330–7. PMID 15331542.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. PMID 15489334.
- Wiemann S, Arlt D, Huber W, et al. (2004). "From ORFeome to biology: a functional genomics pipeline". Genome Res. 14 (10B): 2136–44. PMID 15489336.
- Mehrle A, Rosenfelder H, Schupp I, et al. (2006). "The LIFEdb database in 2006". Nucleic Acids Res. 34 (Database issue): D415–8. PMID 16381901.
- Sladek R, Rocheleau G, Rung J, et al. (2007). "A genome-wide association study identifies novel risk loci for type 2 diabetes". Nature. 445 (7130): 881–5. S2CID 4302932.
- Wenzlau JM, Juhl K, Yu L, et al. (2007). "The cation efflux transporter ZnT8 (Slc30A8) is a major autoantigen in human type 1 diabetes". Proc. Natl. Acad. Sci. U.S.A. 104 (43): 17040–5. PMID 17942684.
External links
- Type 2 diabetes genes mapped out, BBC News article
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