ZG16

Chr 16

zymogen granule protein 16

Also known as: JCLN, JCLN1, ZG16A

NCBI Gene: 653808 ENSG00000174992 UniProt: O60844 OMIM: 617311

ZG16 encodes a protein that functions in protein trafficking and may serve as a linker molecule during secretory granule formation in the trans-Golgi network, with predicted carbohydrate and peptidoglycan binding activities. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.647), but no established human genetic diseases have been definitively associated with ZG16 mutations based on the available data.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to enable carbohydrate binding activity and peptidoglycan binding activity. Predicted to be involved in protein transport. Predicted to act upstream of or within defense response to Gram-positive bacterium and suppression of symbiont entry into host. Located in Golgi lumen and collagen-containing extracellular matrix. [provided by Alliance of Genome Resources, Apr 2025]

OMIM ResearchGenerating clinical summary…

LOEUF 0.65

Clinical Summary— ZG16

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Population Constraint (gnomAD)

Moderately constrained gene (pLI 0.62) — some intolerance to loss-of-function variants.

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ClinVar Variants

27 VUS of 31 total submissions

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Moderate LoF intolerance

LoF Constraint?

0.65LOEUF

pLI 0.621

Z-score 2.17

OE 0.14 (0.05–0.65)

Moderately constrained

Typical tolerance to LoF variation

Missense Constraint?

1.33Z-score

OE missense 0.63 (0.51–0.78)

64 obs / 101.6 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.14 (0.05–0.65)

0≤0.351.4

Missense OE?0.63 (0.51–0.78)

0≤0.61.4

Synonymous OE?0.70

0≤1.21.6

LoF obs/exp: 1 / 7.3Missense obs/exp: 64 / 101.6Syn Z: 1.53

ClinVar Variant Classifications

31 submitted variants in ClinVar

ClinVar

Classification Summary

VUS27

Benign3

VUS

Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	0	0	0	0
Likely Pathogenic	0	0	0	0
VUS	27	0	0	27
Likely Benign	0	0	0	0
Benign	1	1	1	3
Total	28	1	1	30

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

273 pathogenic / likely-pathogenic (of 291) ClinVar copy-number / structural variants overlap ZG16 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →