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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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REC8
REC8 meiotic recombination protein
Chromosome 14 Β· 14q12
NCBI Gene: 9985Ensembl: ENSG00000100918.15HGNC: HGNC:16879UniProt: O95072
32PubMed Papers
20Diseases
0Drugs
3Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingdouble-strand break repairmeiotic sister chromatid cohesionmeiotic cohesin complexazoospermiaPremature ovarian insufficiencyprimary ovarian insufficiencygastric cancer
✦AI Summary

REC8 (REC8 meiotic recombination protein) is a critical component of the cohesin complex essential for proper chromosome 14 during meiosis. The protein functions primarily in maintaining sister chr14 cohesion, where proteolytic cleavage by separin allows homologous chromosome 14 in meiosis I and sister chr14 separation in meiosis II 1. REC8 localizes to meiosis-specific cohesion sites and is closely associated with recombination hotspots, where it works alongside machinery processing DNA double-strand breaks 1. Mutations in REC8 cause male infertility, specifically non-obstructive azoospermia, with affected individuals showing unsuccessful sperm retrieval, indicating complete failure of spermatogenesis 2. The gene has also been implicated in primary ovarian insufficiency, contributing to follicle exhaustion and infertility in women before age 40 3. REC8 undergoes ubiquitin-independent proteasomal degradation through C-degron pathways, representing a regulatory mechanism for controlling proliferation and survival 4. Beyond reproductive function, REC8 may serve as a tumor suppressor in breast cancer by inhibiting cell proliferation, migration, and invasion through targeting CDC20 5. The protein is part of the broader cohesinopathy disease spectrum, where mutations affect chromosome 14 and cellular regulation.

Sources cited
1
REC8 functions in sister chromatid cohesion during meiosis and localizes to recombination hotspots and cohesion sites
PMID: 39928879
2
REC8 mutations cause non-obstructive azoospermia with unsuccessful sperm retrieval in affected men
PMID: 35172124
3
REC8 has been implicated in primary ovarian insufficiency causing infertility before age 40
PMID: 34794894
4
REC8 undergoes ubiquitin-independent proteasomal degradation and controls proliferation and survival
PMID: 37201526
5
REC8 acts as tumor suppressor in breast cancer by inhibiting proliferation, migration and invasion through CDC20 targeting
PMID: 35616161
Disease Associationsβ“˜20
azoospermiaOpen Targets
0.38Weak
Premature ovarian insufficiencyOpen Targets
0.34Weak
primary ovarian insufficiencyOpen Targets
0.13Weak
gastric cancerOpen Targets
0.10Weak
neoplasmOpen Targets
0.09Suggestive
thyroid cancerOpen Targets
0.08Suggestive
breast cancerOpen Targets
0.08Suggestive
partial chromosome Y deletionOpen Targets
0.07Suggestive
spermatogenic failure 57Open Targets
0.07Suggestive
spermatogenic failure 50Open Targets
0.07Suggestive
spermatogenic failure 25Open Targets
0.07Suggestive
spermatogenic failure, X-linked, 2Open Targets
0.07Suggestive
spermatogenic failure 63Open Targets
0.06Suggestive
46,XX testicular disorder of sex developmentOpen Targets
0.06Suggestive
spermatogenic failure 71Open Targets
0.06Suggestive
spermatogenic failure 59Open Targets
0.06Suggestive
spermatogenic failure 60Open Targets
0.06Suggestive
spermatogenic failure 73Open Targets
0.06Suggestive
spermatogenic failure 74Open Targets
0.06Suggestive
spermatogenic failure 61Open Targets
0.06Suggestive
Pathogenic Variants3
NM_001048205.2(REC8):c.860_861del (p.Pro287fs)Pathogenic
Azoospermia
β˜†β˜†β˜†β˜†2021β†’ Residue 287
NM_001048205.2(REC8):c.624+1G>ALikely pathogenic
Premature ovarian insufficiency
β˜†β˜†β˜†β˜†2021
NM_001048205.2(REC8):c.1035_1036dup (p.Ala346fs)Likely pathogenic
Premature ovarian insufficiency
β˜†β˜†β˜†β˜†2021β†’ Residue 346
View on ClinVar β†—
Related Genes
PPP2CAProtein interaction100%PDS5AProtein interaction100%SYCE2Protein interaction100%WAPLProtein interaction100%SYCE1Protein interaction100%PDS5BProtein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
26%
Lung
20%
Liver
14%
Ovary
8%
Heart
4%
Gene Interaction Network
Click a node to explore
REC8PPP2CAPDS5ASYCE2WAPLSYCE1PDS5B
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt O95072
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.68LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.53 [0.41–0.68]
RankingsWhere REC8 stands among ~20K protein-coding genes
  • #11,597of 20,598
    Most Researched32
  • #4,109of 5,498
    Most Pathogenic Variants3
  • #5,091of 17,882
    Most Constrained (LOEUF)0.68
Genes detectedREC8
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Ubiquitin-independent proteasomal degradation driven by C-degron pathways.
PMID: 37201526
Mol Cell Β· 2023
1.00
2
Genetics of ovarian insufficiency and defects of folliculogenesis.
PMID: 34794894
Best Pract Res Clin Endocrinol Metab Β· 2022
0.90
3
The expanding phenotypes of cohesinopathies: one ring to rule them all!
PMID: 31516082
Cell Cycle Β· 2019
0.80
4
Whole-exome sequencing improves the diagnosis and care of men with non-obstructive azoospermia.
PMID: 35172124
Am J Hum Genet Β· 2022
0.70
5
Dynamic changes in histone lysine lactylation during meiosis prophase I in mouse spermatogenesis.
PMID: 39928879
Proc Natl Acad Sci U S A Β· 2025
0.60