MUC1
Chr 1ADmucin 1, cell surface associated
Also known as: ADMCKD, ADMCKD1, ADTKD2, CA 15-3, CD227, Ca15-3, EMA, H23AG
This gene encodes a membrane-bound protein 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. These proteins also play a role in intracellular signaling. This protein is expressed on the apical surface of epithelial cells that line the mucosal surfaces of many different tissues including lung, breast stomach and pancreas. This protein is proteolytically cleaved into alpha and beta subunits that form a heterodimeric complex. The N-terminal alpha subunit functions in cell-adhesion and the C-terminal beta subunit is involved in cell signaling. Overexpression, aberrant intracellular localization, and changes in glycosylation of this protein have been associated with carcinomas. This gene is known to contain a highly polymorphic variable number tandem repeats (VNTR) domain. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2011]
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
This gene — mechanism propensity
This gene has evidence for multiple mechanisms of pathogenicity (gain-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to gain-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
161 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 2 | 0 | 1 | 0 | 3 |
Likely Pathogenic | 7 | 0 | 0 | 0 | 7 |
VUS | 8 | 95 | 0 | 1 | 104 |
Likely Benign | 0 | 13 | 0 | 12 | 25 |
Benign | 0 | 0 | 2 | 2 | 4 |
Conflicting | — | 2 | |||
| Total | 17 | 108 | 3 | 15 | 145 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →14 pathogenic / likely-pathogenic (of 20) ClinVar copy-number / structural variants overlap MUC1 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →
Protein Context — Lollipop Plot
MUC1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Predicting IBD Treatment Outcomes With Gut Microbiome Analysis
RECRUITINGAnti-Inflammatory Diet in BRC Patients on Aromatase Inhibitors
RECRUITINGTalimogene Laherparepvec and Nivolumab in Treating Patients With Refractory Lymphomas or Advanced or Refractory Non-melanoma Skin Cancers
ACTIVE NOT RECRUITINGImmun Checkpoint Washout in Patients With Invasive Ductal Breast Cancer
RECRUITINGEngineered TILs/CAR-TILs to Treat Advanced Solid Tumors
RECRUITINGPredictive Value of Progastrin Titer at Diagnosis and of Progastrin Kinetics During Treatment in Cancer Patients
RECRUITINGPersonalized Exercise Coaching to Improve Quality of Life in Pediatric IBD
ACTIVE NOT RECRUITINGA Clinical Study of TQB2029 for Injection in Subjects With Multiple Myeloma
RECRUITINGMulti-CAR T Cell Therapy for Acute Myeloid Leukemia
RECRUITINGConstruction and Evaluation of Tumor Immunotherapy and Organ Damage Early Warning System Based on Multi-omics
RECRUITINGMicrobiota Transfer for Chronic Rhinosinusitis
ACTIVE NOT RECRUITINGCrosstalk Between Mucosal-Associated Invariant T (MAIT) Cells and the Gut Microbiota and Mucosa in the Development of Type 1 Diabetes in Children
RECRUITINGExternal Resources
Links to major genomics databases and tools