MUC13

Chr 3

mucin 13, cell surface associated

Also known as: DRCC1, MUC-13

NCBI Gene: 56667 ENSG00000173702 UniProt: Q9H3R2 OMIM: 612181

This gene encodes MUC13, a transmembrane mucin glycoprotein expressed by epithelial tissues that functions in cell signaling. MUC13 shows low constraint against loss-of-function variants (pLI 0.002, LOEUF 0.696), and no definitive human disease associations have been established for this gene. Currently, MUC13 mutations are not recognized as a cause of pediatric neurological disorders.

OMIM ResearchSummary from RefSeq, UniProt

Epithelial mucins, such as MUC13, are a family of secreted and cell surface glycoproteins expressed by ductal and glandular epithelial tissues (Williams et al., 2001 [PubMed 11278439]).[supplied by OMIM, Jul 2008]

OMIM ResearchGenerating clinical summary…

MultiplemechanismLOEUF 0.70

Clinical Summary— MUC13

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

7 total variants — no pathogenic classifications of 7 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?

0.70LOEUF

pLI 0.002

Z-score 2.59

OE 0.39 (0.23–0.70)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

0.87Z-score

OE missense 0.85 (0.77–0.95)

235 obs / 275.4 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.39 (0.23–0.70)

0≤0.351.4

Missense OE?0.85 (0.77–0.95)

0≤0.61.4

Synonymous OE?0.90

0≤1.21.6

LoF obs/exp: 8 / 20.8Missense obs/exp: 235 / 275.4Syn Z: 0.77

This gene — mechanism propensity

0.81top 10%

GOF

0.73top 25%

LOF

0.1697th %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

7 submitted variants in ClinVar

ClinVar

Classification Summary

Curated Variants Distribution

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

Classification	LoF	Missense + Inframe	Non-coding	Synonymous
Pathogenic	—	—	—	—
Likely Pathogenic	—	—	—	—
VUS	—	—	—	—
Likely Benign	—	—	—	—
Benign	—	—	—	—
Total	—

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

15 pathogenic / likely-pathogenic (of 19) ClinVar copy-number / structural variants overlap MUC13 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →