MAD2L2

Chr 1p36.22

mitotic arrest deficient 2 like 2

Aliases:: MAD2B, REV7, POLZ2, FANCV
MANE:: ENST00000376692.9

OMIM: 604094 ↗NCBI: 10459 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

MAD2L2 · Q9UI95

v62025-08-01

Predicted Aligned Error matrix for MAD2L2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

90.4/ 100

Very high

211 residues

Confidence breakdown

Very high(≥ 90)74%
Confident(70–90)18%
Low(50–70)5%
Very low(< 50)4%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

COVID-19 research
BIALLELIC, autosomal or pseudoautosomal
Haematological malignancies cancer susceptibility
BIALLELIC, autosomal or pseudoautosomal
Haematological malignancies for rare disease
BIALLELIC, autosomal or pseudoautosomal
Confirmed Fanconi anaemia or Bloom syndrome
BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Fanconi anemia
0.56
Fanconi anemia complementation group V
0.51
acute myeloid leukemia
0.46
myelodysplastic syndrome
0.46
kidney disorder
0.24
Abnormal sperm morphology
0.12
oligospermia
0.12
Reduced sperm motility
0.12
central nervous system cancer
0.10
glioma
0.10

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Mitotic spindle assembly checkpoint protein MAD2B

Adapter protein able to interact with different proteins and involved in different biological processes (PubMed:11459825, PubMed:11459826, PubMed:17296730, PubMed:17719540, PubMed:19443654, PubMed:29656893). Mediates the interaction between the error-prone DNA polymerase zeta catalytic subunit REV3L and the inserter polymerase REV1, thereby mediating the second polymerase switching in translesion DNA synthesis (PubMed:20164194, PubMed:23143872). Translesion DNA synthesis releases the replication blockade of replicative polymerases, stalled in presence of DNA lesions (PubMed:20164194). Component of the shieldin complex, which plays an important role in repair of DNA double-stranded breaks (DSBs) (PubMed:29656893). During G1 and S phase of the cell cycle, the complex functions downstream of TP53BP1 to promote non-homologous end joining (NHEJ) and suppress DNA end resection (PubMed:29656893). Mediates various NHEJ-dependent processes including immunoglobulin class-switch recombination, and fusion of unprotected telomeres (PubMed:29656893). May also regulate another aspect of cellular response to DNA damage through regulation of the JNK-mediated phosphorylation and activation of the transcriptional activator ELK1 (PubMed:17296730). Inhibits the FZR1- and probably CDC20-mediated activation of the anaphase promoting complex APC thereby regulating progression through the cell cycle (PubMed:11459825, PubMed:17719540). Regulates TCF7L2-mediated gene transcription and may play a role in epithelial-mesenchymal transdifferentiation (PubMed:19443654)