MUC12

Chr 7

mucin 12, cell surface associated

Also known as: MUC-11, MUC-12, MUC11

NCBI Gene: 10071ENSG00000205277UniProt: Q9UKN1

This gene encodes an integral membrane glycoprotein that 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 and have been implicated in epithelial renewal and differentiation. These glycoproteins also play a role in intracellular signaling. This protein is expressed on the apical membrane surface of epithelial cells that line the mucosal surfaces of many different tissues including the colon, pancreas, prostate, and uterus. The expression of this gene is downregulated in colorectal cancer tissue. [provided by RefSeq, Apr 2017]

80
ClinVar variants
19
Pathogenic / LP
0.00
pLI score
1
Active trials
Clinical Summary— MUC12
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
19 Pathogenic / Likely Pathogenic· 5 VUS of 80 total submissions
💊
Clinical Trials
1 active or recruiting trial — potential therapeutic options may be available
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?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.60LOEUF
pLI 0.000
Z-score -2.59
OE 1.34 (1.13–1.60)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
-6.32Z-score
OE missense 1.45 (1.40–1.50)
2247 obs / 1547.2 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.1.34 (1.13–1.60)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.1.45 (1.40–1.50)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.31
0≤1.21.6
LoF obs/exp: 90 / 67.1Missense obs/exp: 2247 / 1547.2Syn Z: -6.13

ClinVar Variant Classifications

80 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic17
Likely Pathogenic2
VUS5
Likely Benign53
Benign3
17
Pathogenic
2
Likely Pathogenic
5
VUS
53
Likely Benign
3
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
17
0
17
Likely Pathogenic
0
0
2
0
2
VUS
0
0
5
0
5
Likely Benign
0
9
0
44
53
Benign
0
2
0
1
3
Total011244580

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

MUC12 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype

OMIM

No OMIM entries found.

Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
SEC14L3 knockdown inhibited clear cell renal cell carcinoma proliferation, metastasis and sunitinib resistance through an SEC14L3/RPS3/NFκB positive feedback loop.
Jiang Z et al.·J Exp Clin Cancer Res
2024
Differential Expression of MUC12, MUC16, and MUC20 in Patients with Active and Remission Ulcerative Colitis.
Yamamoto-Furusho JK et al.·Mediators Inflamm
2015Cohort
Preclinical Assessment of a MUC12-Targeted BiTE (Bispecific T-cell Engager) Molecule.
Pham E et al.·Mol Cancer Ther
2021
Transfection with Plasmid-Encoding lncRNA-SLERCC nanoparticle-mediated delivery suppressed tumor progression in renal cell carcinoma.
Mao W et al.·J Exp Clin Cancer Res
2022
EGF-Containing Membrane-Bound Mucins: A Hidden ErbB2 Targeting Pathway?
Liberelle M et al.·J Med Chem
2020Review
Transmembrane Mucins: Signaling Receptors at the Intersection of Inflammation and Cancer.
van Putten JPM et al.·J Innate Immun
2017Review
[Clinicopathological and molecular genetic features of Crohn's disease].
Gong YX et al.·Zhonghua Bing Li Xue Za Zhi
2024
Role of telomere maintenance genes as a predictive biomarker for colorectal cancer immunotherapy response and prognosis.
Wang Z et al.·Biomol Biomed
2025
Untouchable genes in the human genome: Identifying ideal targets for cancer treatment.
Gorlov IP et al.·Cancer Genet
2019
Expression of the cell surface mucin gene family in adenocarcinomas.
Packer LM et al.·Int J Oncol
2004
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov
Inflammatory Bowel Disease (IBD)

Personalized Exercise Coaching to Improve Quality of Life in Pediatric IBD

ACTIVE NOT RECRUITING
NCT07355101Phase NAUniversiteit AntwerpenStarted 2025-11-01
Intake session to define individualized physical activity goalsPersonalized Motivational Coaching24 Week Exercise Programme

External Resources

Links to major genomics databases and tools