SNX19

Chr 11

sorting nexin 19

Also known as: CHET8

NCBI Gene: 399979ENSG00000120451UniProt: Q92543

Islet antigen-2 (IA-2) is an autoantigen in type 1 diabetes and plays a role in insulin secretion. IA-2 is found in dense-core secretory vesicles and interacts with the product of this gene, a sorting nexin. In mouse pancreatic beta-cells, the encoded protein influenced insulin secretion by stabilizing the number of dense-core secretory vesicles. [provided by RefSeq, Dec 2016]

ResearchGenerating clinical summary…
0
Active trials
4
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.86
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.86LOEUF
pLI 0.000
Z-score 2.27
OE 0.61 (0.44–0.86)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-0.58Z-score
OE missense 1.07 (1.00–1.14)
600 obs / 561.4 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.61 (0.44–0.86)
0≤0.351.4
Missense OE?1.07 (1.00–1.14)
0≤0.61.4
Synonymous OE?1.10
0≤1.21.6
LoF obs/exp: 24 / 39.4Missense obs/exp: 600 / 561.4Syn Z: -1.22

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SNX19 · 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

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients