MUC7

Chr 4AD

mucin 7, secreted

Also known as: MG2

NCBI Gene: 4589 ENSG00000171195 UniProt: Q8TAX7 OMIM: 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.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a small salivary mucin, which is thought to play a role in facilitating the clearance of bacteria in the oral cavity and to aid in mastication, speech, and swallowing. The central domain of this glycoprotein contains tandem repeats, each composed of 23 amino acids. This antimicrobial protein has antibacterial and antifungal activity. The most common allele contains 6 repeats, and some alleles may be associated with susceptibility to asthma. Alternatively spliced transcript variants with different 5' UTR, but encoding the same protein, have been found for this gene. [provided by RefSeq, Oct 2014]

OMIM ResearchGenerating clinical summary…

MultiplemechanismADLOEUF 1.941 OMIM phenotype

Clinical Summary— MUC7

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Population Constraint (gnomAD)

Low constraint (pLI 0.01) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

52 VUS of 61 total submissions

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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 OE?1.79 (0.50–1.94)

0≤0.351.4

Missense OE?1.07 (0.95–1.20)

0≤0.61.4

Synonymous OE?0.82

0≤1.21.6

LoF obs/exp: 2 / 1.1Missense obs/exp: 209 / 196.1Syn Z: 1.19

This gene — mechanism propensity

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

61 submitted variants in ClinVar

ClinVar

Classification Summary

VUS52

Likely Benign7

Benign1

VUS

Likely Benign

Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Synonymous	Total
Pathogenic	0	0	0	0
Likely Pathogenic	0	0	0	0
VUS	0	52	0	52
Likely Benign	1	5	1	7
Benign	0	1	0	1
Total	1	58	1	60

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

View in ClinVar →

23 pathogenic / likely-pathogenic (of 31) ClinVar copy-number / structural variants overlap MUC7 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →