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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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MMS22L
MMS22 like, DNA repair protein
Chromosome 6 · 6q16.1
NCBI Gene: 253714Ensembl: ENSG00000146263.12HGNC: HGNC:21475UniProt: E2QRD4
38PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
DNA RepairHomologous Recombination
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
FACT complexMCM complexsingle-stranded DNA bindingprotein bindingsmoking initiationlung cancerglomerulonephritisAbnormality of the skeletal system
✦AI Summary

MMS22L is a DNA repair protein that functions as a component of the MMS22L-TONSL complex, which promotes homologous recombination-mediated repair of double-strand breaks (DSBs) at stalled or collapsed replication forks 123. The complex is essential for maintaining genome integrity during DNA replication 4. MMS22L binds single-stranded DNA and facilitates RAD51 filament assembly following histone replacement and RPA eviction from DSBs 5. The TONSL-MMS22L complex recognizes H4K20me0, a histone mark specific to post-replicative chr6, enabling recruitment to damaged replication forks 6. Additionally, MMS22L functions in sister chr6 cohesion establishment through a pathway parallel to DSCC1-RFC, facilitating ESCO2 recruitment to replication forks 7. Clinically, MMS22L mutations are relevant to cancer biology. MMS22L deletion, observed in up to 14% of prostate cancers, sensitizes cells to PARP inhibitors by disrupting RAD51 loading; however, this response is TP53-dependent 8. Loss of MMS22L also impairs HR in BRCA2-deficient contexts, with the MMS22L-TONSL complex acting as a critical regulator of RAD51 activity 9. Beyond cancer, MMS22L mutations cause congenital erythroid disorders through disrupted erythropoiesis, with loss of MMS22L leading to proliferation arrest and p53 pathway activation 10.

Sources cited
1
The complex is essential for maintaining genome integrity during DNA replication .
PMID: 27797818
2
MMS22L binds single-stranded DNA and facilitates RAD51 filament assembly following histone replacement and RPA eviction from DSBs .
PMID: 29478807
3
The TONSL-MMS22L complex recognizes H4K20me0, a histone mark specific to post-replicative chr6, enabling recruitment to damaged replication forks .
PMID: 27338793
4
Additionally, MMS22L functions in sister chr6 cohesion establishment through a pathway parallel to DSCC1-RFC, facilitating ESCO2 recruitment to replication forks .
PMID: 36622344
5
MMS22L deletion, observed in up to 14% of prostate cancers, sensitizes cells to PARP inhibitors by disrupting RAD51 loading; however, this response is TP53-dependent .
PMID: 36650183
6
Loss of MMS22L also impairs HR in BRCA2-deficient contexts, with the MMS22L-TONSL complex acting as a critical regulator of RAD51 activity .
PMID: 41166468
7
Beyond cancer, MMS22L mutations cause congenital erythroid disorders through disrupted erythropoiesis, with loss of MMS22L leading to proliferation arrest and p53 pathway activation .
PMID: 41446536
Disease Associationsⓘ20
smoking initiationOpen Targets
0.41Moderate
lung cancerOpen Targets
0.32Weak
glomerulonephritisOpen Targets
0.31Weak
Abnormality of the skeletal systemOpen Targets
0.31Weak
hypothyroidismOpen Targets
0.31Weak
tooth diseaseOpen Targets
0.28Weak
Genu valgumOpen Targets
0.28Weak
Genu varumOpen Targets
0.28Weak
obesityOpen Targets
0.28Weak
placenta praeviaOpen Targets
0.28Weak
tympanic membrane diseaseOpen Targets
0.28Weak
tympanic membrane perforationOpen Targets
0.28Weak
CachexiaOpen Targets
0.27Weak
COVID-19Open Targets
0.24Weak
diabetes mellitusOpen Targets
0.21Weak
septic shockOpen Targets
0.20Weak
Alzheimer diseaseOpen Targets
0.20Weak
liver diseaseOpen Targets
0.18Weak
type 2 diabetes mellitusOpen Targets
0.18Weak
injuryOpen Targets
0.17Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MCM2Protein interaction99%MCM6Protein interaction90%SSRP1Protein interaction87%ESCO2Protein interaction82%RAD51Protein interaction77%BRCA1Protein interaction75%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
19%
Ovary
12%
Lung
10%
Heart
8%
Liver
5%
Gene Interaction Network
Click a node to explore
MMS22LMCM2MCM6SSRP1ESCO2RAD51BRCA1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q6ZRQ5
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.51Moderately Constrained
pLIⓘ
0.62Intermediate
Observed/Expected LoF0.40 [0.32–0.51]
RankingsWhere MMS22L stands among ~20K protein-coding genes
  • #10,517of 20,598
    Most Researched38
  • #3,071of 17,882
    Most Constrained (LOEUF)0.51 · top quartile
Genes detectedMMS22L
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
H4K20me0 marks post-replicative chromatin and recruits the TONSL–MMS22L DNA repair complex.
PMID: 27338793
Nature · 2016
1.00
2
CRISPR screens reveal genetic determinants of PARP inhibitor sensitivity and resistance in prostate cancer.
PMID: 36650183
Nat Commun · 2023
0.90
3
Symmetric control of sister chromatid cohesion establishment.
PMID: 36912084
Nucleic Acids Res · 2023
0.80
4
FIGNL1 inhibits homologous recombination in BRCA2 deficient cells by dissociating RAD51 filaments.
PMID: 41166468
Science · 2025
0.70
5
MMS22L is a novel key actor of normal and pathological erythropoiesis.
PMID: 41446536
Hemasphere · 2025
0.60