REC8: Meiotic Recombination Protein Essential for Chromosome Segregation
A key regulator of meiosis, REC8 mutations are linked to premature ovarian failure and infertility.
Gene Information Card
| Symbol | REC8 |
|---|---|
| Full Name | REC8 meiotic recombination protein |
| Gene Type | protein coding |
| Chromosomal Location | 14q12 |
| NCBI Gene ID | 9985 ncbi.nlm.nih.gov/gene/9985 |
| Ensembl ID | ENSG00000100916 |
| UniProt ID | O95072 |
| OMIM ID | 608193 |
| HGNC ID | 9942 |
| Aliases | REC8L1, HR21spB, MMS22L |
Description
REC8 encodes a meiosis-specific cohesin protein that is essential for proper chromosome segregation during meiosis. It mediates sister chromatid cohesion, homologous recombination, and synaptonemal complex formation. Mutations in REC8 are associated with premature ovarian failure and other reproductive disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Premature Ovarian Failure | Loss-of-function mutations impair meiotic cohesion, leading to defective oocyte development and early depletion of ovarian follicles. | ClinVar, OMIM |
| Infertility | Disrupted REC8 function causes meiotic errors, aneuploidy, and gamete apoptosis, contributing to infertility in both sexes. | OMIM, PubMed |
| Spermatogenic Failure | Mutations affecting REC8 lead to meiotic arrest in spermatocytes, resulting in azoospermia or oligospermia. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Ovary | 8.7 | Low |
| Fallopian Tube | 3.2 | Low |
| Endometrium | 2.1 | Low |
| Skin | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 | 0.0 | Not expressed |
| HeLa | 0.0 | Not expressed |
| A549 | 0.0 | Not expressed |
| GM12878 | 0.0 | Not expressed |
| H1 hESC | 0.0 | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.IVS1+1G>A | Splice site | Rare | Skipping of exon 1, frameshift, loss of function |
| p.Arg262* | Nonsense | Rare | Premature truncation, loss of function |
| p.Leu245Phe | Missense | Rare | Altered protein stability, reduced cohesion function |
Mutation functional classification
Loss of Function (LOF)
Most pathogenic mutations are loss-of-function, leading to haploinsufficiency or dominant-negative effects, disrupting meiotic cohesion.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Some missense mutations may exert dominant-negative effects by interfering with wild-type REC8 function in the cohesin complex.
View complete mutation data：
Gene Ontology (GO)
| • meiotic sister chromatid cohesion | • double-strand break repair |
| • synaptonemal complex assembly | • chromosome segregation |
| • protein binding |
Pathways
• Meiotic recombination
• Cell cycle - meiosis
• Cohesin complex pathway
Protein Summary
REC8 is a meiosis-specific cohesin subunit that forms part of the cohesin complex, which holds sister chromatids together during meiosis I. It is essential for programmed double-strand break repair, homologous chromosome pairing, and proper segregation. REC8 is cleaved by separase at the metaphase-to-anaphase transition, allowing chromosome separation. Its expression is primarily restricted to germ cells, with highest levels in testis and ovary.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| REC8 Knockout HEK293 Cell Line | EDJ-KQ2748 | Human | 9985 | Details Get a Quote |
| REC8 Knockout A-549 Cell Line | EDJ-KQ23635 | Human | 9985 | Details Get a Quote |
| REC8 Knockout HCT 116 Cell Line | EDJ-KQ23636 | Human | 9985 | Details Get a Quote |
| REC8 Knockout HeLa Cell Line | EDJ-KQ23637 | Human | 9985 | Details Get a Quote |
