HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
MEI4
meiotic double-stranded break formation protein 4
Chromosome 6 · 6q14.1
NCBI Gene: 101928601Ensembl: ENSG00000269964.4HGNC: HGNC:43638UniProt: A8MW99
10PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindinghomologous chromosome pairing at meiosisspermatogenesismeiotic DNA double-strand break formationskin neoplasmbreast carcinomaasthmaspinal cord injury
✦AI Summary

MEI4 (meiotic double-stranded break formation protein 4) is an evolutionally conserved protein essential for initiating meiotic recombination through DNA double-strand break (DSB) formation 1. MEI4 functions as a structural component of the DSB machinery on meiotic chromosome 6, where it forms a complex with REC114 and IHO1 to activate DSB formation 12. The protein localizes to discrete foci on chromosome 6 that do not overlap with DSB repair foci, suggesting its role occurs upstream of DNA repair 1. HORMAD1, a chromosome 6 component, is required for MEI4 localization, and the quantitative correlation between axis-associated MEI4 levels and DSB formation indicates MEI4 may be a limiting factor for DSB initiation 3. Clinical relevance is demonstrated by bi-allelic MEI4 variants causing female infertility characterized by preimplantation embryonic arrest, with variants reducing MEI4-DNA interaction and causing oogenesis defects in mouse models 4. Similarly, REC114 variants that impair REC114-MEI4 complex formation cause nonobstructive azoospermia in males 5. The MEI4-REC114 complex is regulated by SCF ubiquitin E3 ligase, which prevents hyperactive DSB formation through proteasome-mediated degradation of associated proteins 6. These findings establish MEI4 as a critical regulator of meiotic recombination with significant implications for human fertility.

Sources cited
1
MEI4 is evolutionally conserved and essential for meiotic DSB formation, localizes to chromosome axes, and interacts with REC114
PMID: 20551173
2
MEI4 forms a complex with REC114 and IHO1 to activate DSB formation and is recruited by PRDM9
PMID: 38657614
3
HORMAD1 is required for MEI4 localization and MEI4 levels correlate quantitatively with DSB formation
PMID: 25795304
4
Bi-allelic MEI4 variants cause female infertility with preimplantation embryonic arrest and reduce MEI4-DNA interaction
PMID: 38252283
5
REC114 variants that impair REC114-MEI4 complex formation cause nonobstructive azoospermia
PMID: 38148155
6
SCF ubiquitin E3 ligase regulates the MEI4-containing pre-DSB complex to prevent hyperactive DSB formation
PMID: 35489071
Disease Associationsⓘ20
skin neoplasmOpen Targets
0.31Weak
breast carcinomaOpen Targets
0.28Weak
asthmaOpen Targets
0.28Weak
spinal cord injuryOpen Targets
0.28Weak
Tietze syndromeOpen Targets
0.26Weak
poisoningOpen Targets
0.23Weak
response to radiationOpen Targets
0.23Weak
enthesopathyOpen Targets
0.23Weak
brain cancerOpen Targets
0.22Weak
adolescent idiopathic scoliosisOpen Targets
0.18Weak
nervous system cancerOpen Targets
0.18Weak
VitiligoOpen Targets
0.16Weak
disorder of earOpen Targets
0.16Weak
systemic lupus erythematosusOpen Targets
0.12Weak
MyelopathyOpen Targets
0.09Suggestive
spondylosisOpen Targets
0.08Suggestive
azoospermiaOpen Targets
0.08Suggestive
46,XX testicular disorder of sex developmentOpen Targets
0.06Suggestive
partial chromosome Y deletionOpen Targets
0.06Suggestive
Testicular regression syndromeOpen Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CD151Protein interaction98%ADARB1Protein interaction75%MEI1Protein interaction74%ANKRD31Protein interaction74%IHO1Protein interaction71%SPO11Protein interaction71%
Tissue Expression6 tissues
Heart
100%
Liver
73%
Bone Marrow
53%
Brain
7%
Ovary
1%
Lung
0%
Gene Interaction Network
Click a node to explore
MEI4CD151ADARB1MEI1ANKRD31IHO1SPO11
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt A8MW99
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.34LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.98 [0.73–1.34]
RankingsWhere MEI4 stands among ~20K protein-coding genes
  • #17,104of 20,598
    Most Researched10
  • #14,041of 17,882
    Most Constrained (LOEUF)1.34
Genes detectedMEI4
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Bi-allelic missense variants in MEI4 cause preimplantation embryonic arrest and female infertility.
PMID: 38252283
Hum Genet · 2024
1.00
2
Principles of chromosome organization for meiotic recombination.
PMID: 38657614
Mol Cell · 2024
0.90
3
Functional conservation of Mei4 for meiotic DNA double-strand break formation from yeasts to mice.
PMID: 20551173
Genes Dev · 2010
0.80
4
The Schizosaccharomyces pombe mei4+ gene encodes a meiosis-specific transcription factor containing a forkhead DNA-binding domain.
PMID: 9528784
Mol Cell Biol · 1998
0.70
5
MEI4 – a central player in the regulation of meiotic DNA double-strand break formation in the mouse.
PMID: 25795304
J Cell Sci · 2015
0.60