MUC20

Chr 3

mucin 20, cell surface associated

Also known as: MUC-20

This gene encodes a member of the mucin protein family. Mucins are high molecular weight glycoproteins secreted by many epithelial tissues to form an insoluble mucous barrier. The C-terminus of this family member associates with the multifunctional docking site of the MET proto-oncogene and suppresses activation of some downstream MET signaling cascades. The protein features a mucin tandem repeat domain that varies between two and six copies in most individuals. Multiple variants encoding different isoforms have been found for this gene. A related pseudogene, which is also located on chromosome 3, has been identified. [provided by RefSeq, Apr 2014]

OMIMResearchGenerating clinical summary…
0
Active trials
18
Pubs (1 yr)
P/LP submissions
P/LP missense
1.10
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.10LOEUF
pLI 0.005
Z-score 1.37
OE 0.52 (0.271.10)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.08Z-score
OE missense 0.99 (0.891.09)
268 obs / 271.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.52 (0.271.10)
00.351.4
Missense OE?0.99 (0.891.09)
00.61.4
Synonymous OE?1.12
01.21.6
LoF obs/exp: 5 / 9.6Missense obs/exp: 268 / 271.6Syn Z: -1.05

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

MUC20 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →