MUC21

Chr 6

mucin 21, cell surface associated

Also known as: C6orf205, KMQK697, MUC-21

This gene encodes a large membrane-bound glycoprotein which is a member of the mucin family. Mucins are O-glycosylated proteins that play an essential role in forming protective mucous barriers on epithelial surfaces. These proteins also play a role in intracellular signaling. The encoded protein contains an N-terminal signal sequence, an extracellular mucin domain, a stem domain, a transmembrane domain, and a C-terminal cytoplasmic tail domain. The mucin domain contains O-glycosylation sites and is polymorphic with isoforms containing a variable number of nonidentical proline-, threonine-, and serine-rich tandem repeats of 15 amino acids each. The aberrent expression of this gene is associated with lung adenocarcinoma. [provided by RefSeq, May 2017]

ResearchGenerating clinical summary…
0
Active trials
11
Pubs (1 yr)
P/LP submissions
P/LP missense
1.41
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

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.41LOEUF
pLI 0.080
Z-score 1.04
OE 0.46 (0.191.41)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.57Z-score
OE missense 0.90 (0.811.00)
253 obs / 279.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.46 (0.191.41)
00.351.4
Missense OE?0.90 (0.811.00)
00.61.4
Synonymous OE?1.11
01.21.6
LoF obs/exp: 2 / 4.3Missense obs/exp: 253 / 279.7Syn Z: -0.94

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

MUC21 · 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 →