ZG16

Chr 16

zymogen granule protein 16

Also known as: JCLN, JCLN1, ZG16A

NCBI Gene: 653808ENSG00000174992UniProt: O60844

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]

309
ClinVar variants
269
Pathogenic / LP
0.62
pLI score
0
Active trials
Clinical Summary— ZG16
⚡
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.62) — some intolerance to loss-of-function variants.
📋
ClinVar Variants
269 Pathogenic / Likely Pathogenic· 37 VUS of 309 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
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?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
1.33Z-score
OE missense 0.63 (0.51–0.78)
64 obs / 101.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.14 (0.05–0.65)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.63 (0.51–0.78)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.70
0≤1.21.6
LoF obs/exp: 1 / 7.3Missense obs/exp: 64 / 101.6Syn Z: 1.53

ClinVar Variant Classifications

309 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic225
Likely Pathogenic44
VUS37
Benign3
225
Pathogenic
44
Likely Pathogenic
37
VUS
3
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
————225
Likely Pathogenic
————44
VUS
————37
Likely Benign
————0
Benign
————3
Total—309

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

ZG16 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Machine learning-based screening and validation of liver metastasis-specific genes in colorectal cancer.
Zheng S et al.·Sci Rep
2024
PD-L1 knockout or ZG16 overexpression inhibits PDAC progression and modulates TAM polarization.
Meng H et al.·Front Immunol
2025
Gut Dysbiosis Drives Inflammatory Bowel Disease Through the CCL4L2-VSIR Axis in Glycogen Storage Disease.
Lan J et al.·Adv Sci (Weinh)
2024
Loss of ZG16 is associated with molecular and clinicopathological phenotypes of colorectal cancer.
Meng H et al.·BMC Cancer
2018
LncRNA HAND2-AS1 Inhibited Colon Cancer Progression By Regulating miR-3118/ZG16 Axis.
Hu L et al.·Biochem Genet
2025
Accurate prediction of colorectal cancer diagnosis using machine learning based on immunohistochemistry pathological images.
Ning B et al.·Sci Rep
2024
Comprehensive Colorectal Cancer Stem Cell Transcriptomic Signatures That Can Predict Patient Prognostic Outcomes.
Kakizaki F et al.·Cancer Sci
2026
Potentially immunogenic proteins expressed similarly in human embryonic stem cells and induced pluripotent stem cells.
Maynard KM et al.·Exp Biol Med (Maywood)
2014
Identification of Genes Related to Clinicopathological Characteristics and Prognosis of Patients with Colorectal Cancer.
Gao X et al.·DNA Cell Biol
2020Cohort
[Establishment and gene expression analysis of drug-resistant cell lines in hepatocellular carcinoma induced by sorafenib].
Ma B et al.·Beijing Da Xue Xue Bao Yi Xue Ban
2020
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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