MUC3A

Chr 7

mucin 3A, cell surface associated

Also known as: MUC-3A, MUC3

NCBI Gene: 4584ENSG00000169894UniProt: Q02505

The mucin genes encode epithelial glycoproteins, some of which are secreted and some membrane bound. Each of the genes contains at least one large domain of tandemly repeated sequence that encodes the peptide sequence rich in serine and/or threonine residues, which carries most of the O-linked glycosylation (Gendler and Spicer, 1995 [PubMed 7778880]).[supplied by OMIM, Aug 2008]

50
ClinVar variants
19
Pathogenic / LP
0.00
pLI score
1
Active trials
Clinical Summary— MUC3A
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
19 Pathogenic / Likely Pathogenic· 6 VUS of 50 total submissions
💊
Clinical Trials
1 active or recruiting trial — potential therapeutic options may be available
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

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.
1.06LOEUF
pLI 0.000
Z-score 1.32
OE 0.72 (0.50–1.06)
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.
-0.60Z-score
OE missense 1.08 (1.00–1.17)
447 obs / 412.7 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.0.72 (0.50–1.06)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.1.08 (1.00–1.17)
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.0.99
0≤1.21.6
LoF obs/exp: 19 / 26.3Missense obs/exp: 447 / 412.7Syn Z: 0.06

ClinVar Variant Classifications

50 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic17
Likely Pathogenic2
VUS6
Likely Benign25
17
Pathogenic
2
Likely Pathogenic
6
VUS
25
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
17
0
17
Likely Pathogenic
0
0
2
0
2
VUS
0
0
5
1
6
Likely Benign
0
1
1
23
25
Benign
0
0
0
0
0
Total01252450

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

View in ClinVar →

Protein Context — Lollipop Plot

MUC3A · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype

OMIM

No OMIM entries found.

Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Decoding the expression pattern of MUC3A in gastric adenocarcinoma: unveiling the key to successful immunotherapy.
Sotoudeh M et al.·Expert Opin Ther Targets
2023
MSLN (Mesothelin), ANTXR1 (TEM8), and MUC3A are the potent antigenic targets for CAR T cell therapy of gastric adenocarcinoma.
Sotoudeh M et al.·J Cell Biochem
2019Review
MUC3A promotes non-small cell lung cancer progression via activating the NFκB pathway and attenuates radiosensitivity.
Sun Y et al.·Int J Biol Sci
2021
Screening of Candidate Pathogenic Genes for Spontaneous Abortion Using Whole Exome Sequencing.
Zhu Q et al.·Comb Chem High Throughput Screen
2022
Whole-exome sequencing reveals rare genetic variations in ovarian granulosa cell tumor.
Kim S et al.·Bosn J Basic Med Sci
2022
KIAA1429 promotes the progression of lung adenocarcinoma by regulating the m6A level of MUC3A.
Zhao W et al.·Pathol Res Pract
2021
Next-Generation Sequencing Identifies Novel Germline Mutations in Patients with Budd-Chiari Syndrome-Associated Hepatocellular Carcinoma.
Kumar S et al.·Dig Dis Sci
2025Cohort
Machine Learning Study of SNPs in Noncoding Regions to Predict Non-small Cell Lung Cancer Susceptibility.
Huang Y et al.·Clin Oncol (R Coll Radiol)
2023
Genomic Characterization by Whole-Exome Sequencing of Hypermobility Spectrum Disorder.
Alanis-Funes GJ et al.·Genes (Basel)
2022
Aberrant Mucin Expression Profiles Associate With Pediatric Inflammatory Bowel Disease Presentation and Activity.
Breugelmans T et al.·Inflamm Bowel Dis
2023
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