MUC7

Chr 4AD

mucin 7, secreted

Also known as: MG2

NCBI Gene: 4589ENSG00000171195UniProt: Q8TAX7OMIM: 158375

This gene encodes a small salivary mucin that facilitates bacterial clearance in the oral cavity and aids in mastication, speech, and swallowing through its antimicrobial properties against bacteria and fungi. Mutations are associated with protection against asthma and follow an autosomal dominant inheritance pattern. The gene shows low constraint to loss-of-function variation, indicating tolerance to such variants in the general population.

OMIMResearchSummary from RefSeq, OMIM, UniProt
MultiplemechanismADLOEUF 1.941 OMIM phenotype
Clinical Summary— MUC7
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.01) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
22 unique Pathogenic / Likely Pathogenic· 60 VUS of 91 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.94LOEUF
pLI 0.015
Z-score -0.77
OE 1.79 (0.50–1.94)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-0.33Z-score
OE missense 1.07 (0.95–1.20)
209 obs / 196.1 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE1.79 (0.50–1.94)
0≤0.351.4
Missense OE1.07 (0.95–1.20)
0≤0.61.4
Synonymous OE0.82
0≤1.21.6
LoF obs/exp: 2 / 1.1Missense obs/exp: 209 / 196.1Syn Z: 1.19
DN
0.79top 25%
GOF
0.7125th %ile
LOF
0.2092th %ile

This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.

DNprediction above median
GOFprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

91 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic21
Likely Pathogenic1
VUS60
Likely Benign7
Benign1
21
Pathogenic
1
Likely Pathogenic
60
VUS
7
Likely Benign
1
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
21
0
21
Likely Pathogenic
0
0
1
0
1
VUS
0
52
8
0
60
Likely Benign
1
5
0
1
7
Benign
0
1
0
0
1
Total15830190

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

View in ClinVar →

Protein Context — Lollipop Plot

MUC7 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Dual Amino Acid Swap in MUC7-Derived Peptide Enhances Resistance and Modulates Zn(II) and Cu(II) Complex Stability, Secondary Structure and Antimicrobial Activity.
Szarszoń K et al.·Inorg Chem
2026
Exploring zinc(II) ion binding and antimicrobial activity viaD-amino acid substitution and retro-inverso modifications in MUC7 peptide from human saliva.
Wątły J et al.·Dalton Trans
2025
Modulating Copper(II) Coordination and Antimicrobial Activity: Effects of d-Amino Acid Substitution and Retro-Inverso Modification in Human Saliva MUC7 Peptide.
Wątły J et al.·Inorg Chem
2025Open Access
Chemoenzymatic Synthesis of Highly O-Glycosylated MUC7 Glycopeptides for Probing Inhibitory Activity against Pseudomonas aeruginosa Biofilm Formation.
Ma W et al.·Angew Chem Int Ed Engl
2025
Insights into the Chemistry, Structure, and Biological Activity of Human Salivary MUC7 Fragments and Their Cu(II) and Zn(II) Complexes.
Szarszoń K et al.·Inorg Chem
2024Open Access
Top 5 resultsSearch Europe PMC ↗

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