MUC4

Chr 3

mucin 4, cell surface associated

Also known as: ASGP, HSA276359, MUC-4

The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…
0
Active trials
145
Pubs (1 yr)
P/LP submissions
P/LP missense
0.99
LOEUF
DN
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?
0.99LOEUF
pLI 0.000
Z-score 1.61
OE 0.84 (0.700.99)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-18.87Z-score
OE missense 2.03 (1.962.00)
5424 obs / 2676.2 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.84 (0.700.99)
00.351.4
Missense OE?2.03 (1.962.00)
00.61.4
Synonymous OE?1.76
01.21.6
LoF obs/exp: 93 / 111.3Missense obs/exp: 5424 / 2676.2Syn Z: -20.51

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

MUC4 · 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 →