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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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MAD2L2
mitotic arrest deficient 2 like 2
Chromosome 1 · 1p36.22
NCBI Gene: 10459Ensembl: ENSG00000116670.18HGNC: HGNC:6764UniProt: Q9UI95
120PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
DNA RepairTranscription Factor
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
anaphase-promoting complextranscription corepressor activityprotein bindingJUN kinase bindingFanconi anemiaFanconi anemia complementation group Vacute myeloid leukemiaMenkes disease
✦AI Summary

MAD2L2 (REV7) is a multifunctional adapter protein with critical roles in DNA damage repair and cell cycle regulation. As a core component of the shieldin complex, MAD2L2 functions downstream of 53BP1 to suppress DNA end resection and promote non-homologous end joining (NHEJ) of double-strand breaks during G1 and S phase, enabling immunoglobulin class switching and telomere fusion 1. Beyond its shieldin-dependent functions, MAD2L2 independently protects stalled replication forks through cooperation with DNA polymerases REV1 and REV3L, preventing uncontrolled nucleolytic processing and genomic instability 2. MAD2L2 dimerization, mediated by SHLD2 and regulated by the TRIP13 ATPase, is essential for proper shieldin assembly and DNA repair activity 3. Additionally, MAD2L2 mediates translesion DNA synthesis by facilitating polymerase switching and regulates cell cycle progression through inhibition of the anaphase-promoting complex 45. Clinically, MAD2L2 is associated with Fanconi anemia complementation group V 6. Elevated MAD2L2 expression promotes glioblastoma stemness and malignant progression through c-MYC regulation, and cooperates with Aurora Kinase B to suppress p53-mediated DNA damage responses in bladder cancer 78, establishing MAD2L2 as an emerging oncogenic target.

Sources cited
1
MAD2L2 is a component of the shieldin complex recruited to DSB sites in a 53BP1/RIF1-dependent manner, where it promotes NHEJ and suppresses resection
PMID: 30022168
2
MAD2L2 protects stalled replication forks independently of shieldin through cooperation with REV3L and REV1 polymerases
PMID: 36075897
3
MAD2L2 dimerization, mediated by SHLD2 and regulated by TRIP13, is required for shieldin assembly and function in NHEJ
PMID: 34521823
4
MAD2L2 inhibits FZR1-mediated APC activation to regulate cell cycle progression
PMID: 11459825
5
MAD2L2 inhibits CDC20-mediated APC activation affecting cell cycle progression
PMID: 17719540
6
MAD2L2 is highly expressed in glioblastoma and promotes stemness and malignant progression through c-MYC regulation
PMID: 38017538
7
AURKB interacts with MAD2L2 to suppress p53-mediated DNA damage responses and promote bladder cancer progression
PMID: 38515112
8
MAD2L2 is part of the DDR/Fanconi anemia signaling network and is associated with Fanconi anemia complementation group V
PMID: 39421870
Disease Associationsⓘ21
Fanconi anemiaOpen Targets
0.56Moderate
Fanconi anemia complementation group VOpen Targets
0.51Moderate
acute myeloid leukemiaOpen Targets
0.46Moderate
Menkes diseaseOpen Targets
0.46Moderate
myelodysplastic syndromeOpen Targets
0.46Moderate
kidney diseaseOpen Targets
0.23Weak
Abnormal sperm morphologyOpen Targets
0.12Weak
oligospermiaOpen Targets
0.12Weak
Reduced sperm motilityOpen Targets
0.12Weak
breast cancerOpen Targets
0.10Suggestive
gliomaOpen Targets
0.10Suggestive
cancerOpen Targets
0.09Suggestive
colorectal carcinomaOpen Targets
0.09Suggestive
azoospermiaOpen Targets
0.09Suggestive
neoplasmOpen Targets
0.09Suggestive
partial chromosome Y deletionOpen Targets
0.08Suggestive
lung cancerOpen Targets
0.08Suggestive
spermatogenic failure 50Open Targets
0.08Suggestive
spermatogenic failure 57Open Targets
0.08Suggestive
spermatogenic failure 25Open Targets
0.08Suggestive
Fanconi anemia, complementation group VUniProt
Pathogenic Variants1
NM_006341.4(MAD2L2):c.254T>A (p.Val85Glu)Pathogenic
Fanconi anemia complementation group V|not provided
☆☆☆☆2018→ Residue 85
View on ClinVar ↗
Related Genes
MCM3Protein interaction100%POLE3Protein interaction100%POLE4Protein interaction100%CDC20Protein interaction100%POLA2Protein interaction99%MAD2L1Protein interaction98%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
75%
Liver
70%
Lung
53%
Ovary
34%
Heart
29%
Gene Interaction Network
Click a node to explore
MAD2L2MCM3POLE3POLE4CDC20POLA2MAD2L1
PROTEIN STRUCTURE
Preparing viewer…
PDB6BCD · 1.43 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.81LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.54 [0.37–0.81]
RankingsWhere MAD2L2 stands among ~20K protein-coding genes
  • #3,922of 20,598
    Most Researched120 · top quartile
  • #4,833of 5,498
    Most Pathogenic Variants1
  • #6,733of 17,882
    Most Constrained (LOEUF)0.81
Genes detectedMAD2L2
Sources retrieved10 papers
Response time—
📄 Sources
10â–¼
1
The shieldin complex mediates 53BP1-dependent DNA repair.
PMID: 30022168
Nature · 2018
1.00
2
MAD2L2 dimerization and TRIP13 control shieldin activity in DNA repair.
PMID: 34521823
Nat Commun · 2021
0.90
3
PMID: 20301575
0.80
4
Mitotic syndicates Aurora Kinase B (AURKB) and mitotic arrest deficient 2 like 2 (MAD2L2) in cohorts of DNA damage response (DDR) and tumorigenesis.
PMID: 34083040
Mutat Res Rev Mutat Res · 2021
0.70
5
MAD2L2 promotes replication fork protection and recovery in a shieldin-independent and REV3L-dependent manner.
PMID: 36075897
Nat Commun · 2022
0.60