MUC13

Chr 3

mucin 13, cell surface associated

Also known as: DRCC1, MUC-13

NCBI Gene: 56667 ENSG00000173702 UniProt: Q9H3R2

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.

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]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.70

LOEUF

Multiple*

Mechanism· predicted

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?

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

Background carrier burden — how many people carry a rare variant somewhere in MUC13?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 65

612 rare PASS variants

Rare truncating (LoF)

1 in 2,400

71 rare PASS variants

Rare synonymous (reference)

1 in 180

212 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for MUC13. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 120	1 in 2,900
South Asian	~43k	1 in 83	1 in 7,200
Remaining (unassigned)	~30k	1 in 96	1 in 3,800
European (Finnish)	~27k	1 in 590	1 in 4,400
Admixed American	~22k	1 in 100	1 in 1,600
African / African American	~21k	1 in 76	1 in 1,600
East Asian	~20k	1 in 120	1 in 1,700
Ashkenazi Jewish	~13k	1 in 240	≈ 1 in 13,000
Middle Eastern	~2,884	1 in 78	≈ 1 in 2,900

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 11 coding exons well covered in gnomAD exomes and genomes.? see exons ↓