MUC1
Chr 1ADmucin 1, cell surface associated
Also known as: ADMCKD, ADMCKD1, ADTKD2, CA 15-3, CD227, Ca15-3, EMA, H23AG
The protein is a membrane-bound mucin that forms protective barriers on epithelial surfaces, with the alpha subunit mediating cell adhesion and the beta subunit involved in cell signaling. Mutations cause autosomal dominant tubulointerstitial kidney disease, type 2. The gene is not highly constrained against loss-of-function variants, suggesting the pathogenic variants may act through other mechanisms.
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 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
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
MUC1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Airway Remodeling and Rhinovirus in Asthmatics
RECRUITINGTalimogene Laherparepvec and Nivolumab in Treating Patients With Refractory Lymphomas or Advanced or Refractory Non-melanoma Skin Cancers
ACTIVE NOT RECRUITINGMucinB5 Gene Polymorphism and Leucocytes Telomere Length in Interstitial Lung Diseases
RECRUITINGClinical Study on the Prevention and Treatment of Postoperative Metastasis of Lung Cancer by Fuzheng Quxie Recipe
RECRUITINGImmun Checkpoint Washout in Patients With Invasive Ductal Breast Cancer
RECRUITINGMicrobiota Transfer for Chronic Rhinosinusitis
ACTIVE NOT RECRUITINGA Clinical Study of TQB2029 for Injection in Subjects With Multiple Myeloma
RECRUITINGConstruction and Evaluation of Tumor Immunotherapy and Organ Damage Early Warning System Based on Multi-omics
RECRUITINGThe Role of Intestinal Microbiota Dysbiosis in the Development of Spondyloarthritis
RECRUITINGPredicting IBD Treatment Outcomes With Gut Microbiome Analysis
RECRUITINGThe Impact of Pectin Supplementation on Systematic Inflammation Pathway, Gut Microbiome, and Metabolic Health in Patients With Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD)
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