MEI4 (Meiotic Double-Stranded Break Formation Protein)
Key regulator of meiotic recombination and DNA double-strand break formation
Gene Information Card
| Symbol | MEI4 |
|---|---|
| Full Name | Meiotic Double-Stranded Break Formation Protein 4 |
| Gene Type | Protein-coding |
| Chromosomal Location | 6q21 |
| NCBI Gene ID | 57650 ncbi.nlm.nih.gov/gene/57650 |
| Ensembl ID | ENSG00000112297 |
| UniProt ID | Q5TIA1 |
| OMIM ID | 619599 |
| HGNC ID | 29266 |
| Aliases | C6orf171, MEI4 (meiosis-specific) |
Description
MEI4 encodes a protein essential for meiotic recombination. It is involved in the formation of programmed DNA double-strand breaks (DSBs) that initiate homologous recombination during prophase I of meiosis. MEI4 interacts with other DSB-forming proteins (e.g., SPO11, TOPOVIBL) and is required for fertility in both males and females.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Non-obstructive azoospermia | MEI4 mutations impair DSB formation, leading to meiotic arrest and spermatogenic failure | ClinVar, OMIM |
| Premature ovarian failure | Loss of MEI4 function disrupts oocyte development, causing ovarian insufficiency | OMIM |
| Primary ovarian insufficiency | Similar mechanism as above, with evidence from familial studies | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Ovary | 3.2 | Low |
| Fallopian tube | 1.1 | Not detected |
| Endometrium | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Seminoma cell line (TCam-2) | 5.0 | Testicular germ cell tumor model |
| Embryonic stem cells (H1) | 0.2 | Low expression in undifferentiated cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.337C>T (p.Arg113*) | Nonsense | Rare | Premature stop, loss of function |
| c.1015G>A (p.Gly339Arg) | Missense | Rare | Impaired protein interaction with SPO11 |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated protein, abolishing DSB formation.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • reciprocal meiotic recombination (GO:0007131) | • meiotic DNA double-strand break formation (GO:0030983) |
| • condensed nuclear chromosome (GO:0000794) | • nucleus (GO:0005634) |
Pathways
• Meiotic recombination (Reactome: R-HSA-912446)
• Formation of meiotic double-strand breaks (Reactome: R-HSA-5696398)
Protein Summary
MEI4 is a 365-amino-acid nuclear protein that localizes to meiotic chromosome axes. It forms a complex with SPO11 and TOPOVIBL to catalyze DNA double-strand breaks. The protein contains a conserved domain required for interaction with the meiotic recombination machinery. Expression is predominantly in testis and ovary, with low levels in other tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MEI4 Knockout HEK293 Cell Line | EDJ-KQ14230 | Human | 101928601 | Details Get a Quote |
| MEI4 Knockout HeLa Cell Line | EDJ-KQ60999 | Human | 101928601 | Details Get a Quote |
| MEI4 Knockout A-549 Cell Line | EDJ-KQ69473 | Human | 101928601 | Details Get a Quote |
| MEI4 Knockout HCT 116 Cell Line | EDJ-KQ77826 | Human | 101928601 | Details Get a Quote |
