MKI67
Chr 10marker of proliferation Ki-67
Also known as: KIA, MIB-, MIB-1, PPP1R105
The MKI67 protein acts as a chromosome scaffold during cell division, maintaining proper chromosome separation and clustering through electrostatic charge barriers and RNA-dependent phase separation. This gene is extremely tolerant to loss-of-function variants (LOEUF 0.764), and while MKI67 is widely used as a proliferation marker in cancer research, specific constitutional mutations causing pediatric neurogenetic disorders have not been well-established in the clinical literature. MKI67-related phenotypes would likely involve fundamental cell division abnormalities affecting multiple organ systems including the developing nervous system.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
The highest-scoring mechanism for this gene is dominant-negative.
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
MKI67 · 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
Ribociclib, Tucatinib, and Trastuzumab for the Treatment of HER2 Positive Breast Cancer
RECRUITINGImpact of Endocrine Therapy, Menstrual Cycle, PAM50, Ki67 on Treatment Decisions in HR+ and HER2- Breast Cancer
RECRUITINGTrial of Perioperative Endocrine Therapy - Individualising Care
ACTIVE NOT RECRUITINGEffect of HSD3B1 (1245C) Gene Mutation on Treatment of Stage I-III Breast Cancer
RECRUITINGCarboplatin and Nab-Paclitaxel With or Without Vorinostat in Treating Women With Newly Diagnosed Operable Breast Cancer
ACTIVE NOT RECRUITINGResidual Disease MEMory in PSOriasis Skin During EnstiLAR® and Narrow-band Ultraviolet B Therapy: The MEMPSOLAR Study
ACTIVE NOT RECRUITINGRegression of Cervical Precancerous Lesions and Associated Risk Factors
RECRUITINGA Phase 0/1 Study of BDTX-1535 in Recurrent High-Grade Glioma (rHGG) and Newly Diagnosed Glioblastoma (nGBM) Participants With EGFR Alterations or Fusions
RECRUITINGIbrutinib Before and After Stem Cell Transplant in Treating Patients With Relapsed or Refractory Diffuse Large B-cell Lymphoma
ACTIVE NOT RECRUITINGA Nutrition & Exercise Prehabilitation Intervention on Inflammatory Biomarkers in AI Cancer Patients
RECRUITINGClinical Trail of Neoadjuvant of Tislelizumab Combined With Palbociclib in Patients With Platinum-refractory Bladder Urothelial Carcinoma
RECRUITINGA Clinical Study of TQB2029 for Injection in Subjects With Multiple Myeloma
RECRUITINGExternal Resources
Links to major genomics databases and tools