MEIOSIN: Meiosis Specific Regulator of Spermatogenesis
A master regulator of meiotic initiation in germ cells
Gene Information Card
| Symbol | MEIOSIN |
|---|---|
| Full Name | meiosis specific for spermatogenesis |
| Gene Type | protein-coding |
| Chromosomal Location | 17q21.31 |
| NCBI Gene ID | 100506334 ncbi.nlm.nih.gov/gene/100506334 |
| Ensembl ID | ENSG00000267280 |
| UniProt ID | A0A1B0GXZ2 |
| OMIM ID | 617598 |
| HGNC ID | 53468 |
| Aliases | C17orf104, MEI1, MEIOSIN |
Description
MEIOSIN (meiosis specific for spermatogenesis) is a protein-coding gene that encodes a transcription factor essential for the initiation of meiosis in male germ cells. It acts as a master regulator by directly activating meiotic genes, including STRA8 and SPO11, and is required for the transition from mitotic to meiotic cell cycle in spermatocytes. MEIOSIN expression is restricted to the testis and is critical for normal spermatogenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (non-obstructive azoospermia) | Loss-of-function mutations in MEIOSIN disrupt meiotic initiation, leading to spermatogenic arrest and absence of sperm in semen. | ClinVar; PMID: 28257692 |
| Spermatogenic failure | MEIOSIN deficiency causes meiotic arrest at the preleptotene stage, preventing formation of primary spermatocytes. | OMIM #617598; PMID: 28257692 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | High |
| Ovary | 0.2 | Low |
| Brain | 0.0 | Not detected |
| Heart | 0.0 | Not detected |
| Liver | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Spermatocytes (primary) | 15.0 | Enriched in meiotic cells |
| Spermatogonia | 2.1 | Low expression |
| Sertoli cells | 0.0 | Not expressed |
| Leydig cells | 0.0 | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense (start loss) | Rare | Loss of translation initiation, likely null allele |
| c.238C>T (p.Arg80*) | Nonsense | Rare | Premature stop, loss of function |
| c.502_503del (p.Leu168fs) | Frameshift | Rare | Frameshift, truncated protein |
Mutation functional classification
Loss of Function (LOF)
MEIOSIN loss-of-function mutations cause meiotic arrest and male infertility due to failure to initiate meiosis.
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)
Pathways
• Meiotic recombination (Reactome: R-HSA-912446)
• Meiosis (KEGG: hsa04114)
Protein Summary
MEIOSIN is a 393-amino acid nuclear protein that functions as a transcription factor. It contains a conserved N-terminal domain required for DNA binding and a C-terminal transactivation domain. MEIOSIN directly binds to promoter regions of meiotic genes such as STRA8, SPO11, and DMC1, and cooperates with STRA8 to drive the meiotic program. Its expression is tightly regulated and restricted to preleptotene spermatocytes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MEIOSIN Knockout HEK293 Cell Line | EDJ-KQ14234 | Human | 388553 | Details Get a Quote |
| MEIOSIN Knockout HCT 116 Cell Line | EDJ-KQ42995 | Human | 388553 | Details Get a Quote |
