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GeneE
25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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MAD2L1
mitotic arrest deficient 2 like 1
Chromosome 4 · 4q27
NCBI Gene: 4085Ensembl: ENSG00000164109.15HGNC: HGNC:6763UniProt: Q13257
351PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
RESEARCH IMPACT
Highly StudiedTrending
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein homodimerization activitymitotic spindle assembly checkpoint signalingcytosolperinuclear region of cytoplasmcornea transplantationalcohol drinkinghypotensionTietze syndrome
✦AI Summary

MAD2L1 (mitotic arrest deficient 2 like 1) is a critical component of the spindle-assembly checkpoint that prevents anaphase onset until chr4 are properly aligned at the metaphase plate 12. In its closed conformation (C-MAD2), it forms a heterotetrameric complex with MAD1L1 at unattached kinetochores, promoting the conversion of open conformation molecules (O-MAD2) to C-MAD2 2. MAD2L1 inhibits the anaphase promoting complex by sequestering CDC20, executing the mitotic checkpoint that monitors kinetochore-spindle attachment 341. Beyond its canonical checkpoint role, MAD2L1 is significantly dysregulated in multiple malignancies. It is upregulated in gastric cancer, associated with poor prognosis and tumor relapse 5. In breast cancer, high-glucose conditions drive MAD2L1 upregulation through RCC2 lactylation, promoting rapid proliferation 6. MAD2L1 is identified as a cancer-driver gene in malignant pleural mesothelioma, where its overexpression differentiates diseased from normal tissue 7. In hepatocellular carcinoma, MAD2L1 upregulation correlates with poor prognosis and is essential for MYC-driven tumorigenesis 89. Additionally, MAD2L1 stabilization via FXR1-dependent mechanisms drives soft tissue sarcoma growth and prevents senescence 10, while in multiple myeloma, MAD2L1 suppression effectively inhibits disease progression 11.

Sources cited
1
MAD2L1 prevents anaphase onset and executes mitotic checkpoint
PMID: 15024386
2
MAD2L1 C-MAD2 and O-MAD2 conformations in spindle checkpoint assembly
PMID: 29162720
3
MAD2L1 inhibits anaphase promoting complex by sequestering CDC20
PMID: 10700282
4
MAD2L1 role in mitotic checkpoint execution
PMID: 11804586
5
MAD2L1 upregulation in gastric cancer associated with poor prognosis
PMID: 34126961
6
RCC2 lactylation stabilizes MAD2L1 mRNA in breast cancer under high glucose
PMID: 40145796
7
MAD2L1 is cancer-driver gene in malignant pleural mesothelioma with diagnostic value
PMID: 39300217
8
MAD2L1 upregulation correlates with poor prognosis and immune infiltration in HCC
PMID: 36637946
9
FXR1-dependent MAD2L1 mRNA stability drives soft tissue sarcoma and prevents senescence
PMID: 39387242
10
MAD2L1 suppression inhibits multiple myeloma growth in preclinical models
PMID: 39855192
11
MAD2L1 supports MYC-driven hepatocarcinogenesis and predicts poor prognosis in HCC
PMID: 39316419
Disease Associationsⓘ20
cornea transplantationOpen Targets
0.32Weak
alcohol drinkingOpen Targets
0.32Weak
hypotensionOpen Targets
0.29Weak
Tietze syndromeOpen Targets
0.29Weak
sensory perception of smellOpen Targets
0.24Weak
pneumococcal pneumoniaOpen Targets
0.22Weak
coronary artery diseaseOpen Targets
0.22Weak
central nervous system infectionOpen Targets
0.21Weak
connective tissue diseaseOpen Targets
0.20Weak
bronchiectasisOpen Targets
0.19Weak
cervical carcinomaOpen Targets
0.18Weak
tooth diseaseOpen Targets
0.16Weak
Myocardial IschemiaOpen Targets
0.16Weak
coronary artery bypassOpen Targets
0.15Weak
angina pectorisOpen Targets
0.14Weak
refractive errorOpen Targets
0.14Weak
Abnormality of refractionOpen Targets
0.14Weak
myocardial infarctionOpen Targets
0.13Weak
DNA methylationOpen Targets
0.12Weak
lung adenocarcinomaOpen Targets
0.11Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ANAPC10Protein interaction100%NUP98Protein interaction100%MAD2L1BPProtein interaction100%CDC20Protein interaction99%CKS1BProtein interaction99%TRIP13Protein interaction99%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
32%
Heart
7%
Ovary
4%
Lung
3%
Liver
2%
Gene Interaction Network
Click a node to explore
MAD2L1ANAPC10NUP98MAD2L1BPCDC20CKS1BTRIP13
PROTEIN STRUCTURE
Preparing viewer…
PDB2VFX · 1.95 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.68LoF Tolerant
pLIⓘ
0.50Intermediate
Observed/Expected LoF0.38 [0.22–0.68]
RankingsWhere MAD2L1 stands among ~20K protein-coding genes
  • #891of 20,598
    Most Researched351 · top 5%
  • #5,115of 17,882
    Most Constrained (LOEUF)0.68
Genes detectedMAD2L1
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
Investigation of
PMID: 37994469
Zygote · 2023
1.00
2
Identification of novel hub genes associated with gastric cancer using integrated bioinformatics analysis.
PMID: 34126961
BMC Cancer · 2021
0.90
3
High Sugar Induced RCC2 Lactylation Drives Breast Cancer Tumorigenicity Through Upregulating MAD2L1.
PMID: 40145796
Adv Sci (Weinh) · 2025
0.80
4
Expression and mutational analyses of the human MAD2L1 gene in breast cancer cells.
PMID: 11066082
Genes Chromosomes Cancer · 2000
0.76
5
Overexpression of TBX3 suppresses tumorigenesis in experimental and human cholangiocarcinoma.
PMID: 38909034
Cell Death Dis · 2024
0.72