SLC30A8

Chr 8

solute carrier family 30 member 8

Also known as: ZNT8, ZnT-8

The protein encoded by this gene is a zinc efflux transporter involved in the accumulation of zinc in intracellular vesicles. This gene is expressed at a high level only in the pancreas, particularly in islets of Langerhans. The encoded protein colocalizes with insulin in the secretory pathway granules of the insulin-secreting INS-1 cells. Allelic variants of this gene exist that confer susceptibility to diabetes mellitus, noninsulin-dependent (NIDDM). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010]

ResearchGenerating clinical summary…
0
Active trials
22
Pubs (1 yr)
P/LP submissions
P/LP missense
1.51
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.51LOEUF
pLI 0.000
Z-score -0.05
OE 1.01 (0.691.51)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.11Z-score
OE missense 0.98 (0.871.10)
200 obs / 204.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?1.01 (0.691.51)
00.351.4
Missense OE?0.98 (0.871.10)
00.61.4
Synonymous OE?0.87
01.21.6
LoF obs/exp: 17 / 16.8Missense obs/exp: 200 / 204.4Syn Z: 0.91

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

SLC30A8 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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