MUC17

Chr 7

mucin 17, cell surface associated

NCBI Gene: 140453ENSG00000169876UniProt: Q685J3

Probably plays a role in maintaining homeostasis on mucosal surfaces

0
ClinVar variants
0
Pathogenic / LP
0.00
pLI score
1
Active trials
Clinical Summary— MUC17
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
💊
Clinical Trials
1 active or recruiting trial — potential therapeutic options may be available

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
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.
1.49LOEUF
pLI 0.000
Z-score -1.85
OE 1.24 (1.04–1.49)
Tolerant

Highly tolerant — LoF variants common in population

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.
-7.83Z-score
OE missense 1.46 (1.42–1.50)
3313 obs / 2264.9 exp
Tolerant

Tolerant to missense variation

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.1.24 (1.04–1.49)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.1.46 (1.42–1.50)
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.1.42
0≤1.21.6
LoF obs/exp: 85 / 68.5Missense obs/exp: 3313 / 2264.9Syn Z: -9.46

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

MUC17 · 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
MUCIN 17; MUC17
MIM #608424 · *
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Genomic characterization of biliary tract cancers identifies driver genes and predisposing mutations.
Wardell CP et al.·J Hepatol
2018
Development of a Caco-2-based intestinal mucosal model to study intestinal barrier properties and bacteria-mucus interactions.
Floor E et al.·Gut Microbes
2025Functional
MUC17 is an essential small intestinal glycocalyx component that is disrupted in Crohn's disease.
Layunta E et al.·JCI Insight
2024
Genomic and Expression Analyses Define MUC17 and PCNX1 as Predictors of Chemotherapy Response in Breast Cancer.
Al Amri WS et al.·Mol Cancer Ther
2020
The human transmembrane mucin MUC17 responds to TNFα by increased presentation at the plasma membrane.
Schneider H et al.·Biochem J
2019
Genetic variations of MUC17 are associated with endometriosis development and related infertility.
Yang CW et al.·BMC Med Genet
2015
Identification of neoantigen epitopes in cervical cancer by multi-omics analysis.
Yuan J et al.·Eur J Med Res
2025
Epigenetic downregulation of MUC17 by H. pylori infection facilitates NF-κB-mediated expression of CEACAM1-3S in human gastric cancer.
Lin S et al.·Gastric Cancer
2019
EGF-Containing Membrane-Bound Mucins: A Hidden ErbB2 Targeting Pathway?
Liberelle M et al.·J Med Chem
2020Review
Integrated Analysis of WES and scRNA-Seq Data Reveals the Genetic Basis of Immune Dysregulation in Unexplained Recurrent Pregnancy Loss.
Lin ZJ et al.·J Clin Lab Anal
2025
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
Inflammatory Bowel Disease (IBD)

Personalized Exercise Coaching to Improve Quality of Life in Pediatric IBD

ACTIVE NOT RECRUITING
NCT07355101Phase NAUniversiteit AntwerpenStarted 2025-11-01
Intake session to define individualized physical activity goalsPersonalized Motivational Coaching24 Week Exercise Programme

External Resources

Links to major genomics databases and tools