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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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OOEP
oocyte expressed protein
Chromosome 6 · 6q13
NCBI Gene: 441161Ensembl: ENSG00000203907.10HGNC: HGNC:21382UniProt: A6NGQ2
13PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
subcortical maternal complexnucleuscytoplasmprotein bindingfemale infertility due to zona pellucida defectinherited oocyte maturation defectinjuryFemale infertility due to fertilization defect
✦AI Summary

OOEP (oocyte expressed protein) is a core structural component of the subcortical maternal complex (SCMC), a multiprotein scaffold essential for early embryonic development 1. OOEP localizes to cytoplasmic lattices in oocytes and preimplantation embryos, where it functions as part of the SCMC to store and stabilize maternal proteins critical for embryonic development 2. Beyond structural roles, OOEP participates in DNA damage response pathways: as part of an OOEP-KHDC3 scaffold, it recruits BLM and TRIM25 to stalled replication forks, promoting replication fork restart, and positively regulates homologous recombination-mediated double-strand break repair by regulating ATM activation and RAD51 recruitment, thereby supporting oocyte survival and meiotic completion. OOEP also interacts with NLRP5 to stabilize UHRF1 in the cytoplasm, contributing to epigenetic reprogramming 3. Mutations in OOEP cause human female infertility characterized by early embryonic arrest, with compound heterozygous variants reducing OOEP protein levels and resulting in developmental arrest at preimplantation stages 4. These findings establish OOEP as essential for maternal contribution to early embryogenesis and implicate its dysfunction in reproductive disorders 5.

Sources cited
1
OOEP is required for oocyte cytoplasmic lattice formation and acts as a maternal-effect gene essential for embryonic development
PMID: 20590823
2
OOEP is a core component of the human subcortical maternal complex that co-localizes with other SCMC proteins in oocytes and early embryos
PMID: 25542835
3
Biallelic variants in OOEP cause early embryonic arrest and reduce OOEP protein levels
PMID: 35946397
4
OOEP is a core component of the SCMC; pathogenic variants in OOEP cause reproductive disorders related to SCMC destabilization
PMID: 39379527
5
OOEP interacts with NLRP5 and participates in UHRF1 stabilization, relevant to imprinting control
PMID: 38868925
6
OOEP interacts with other SCMC components and variants affect oocyte quality and early embryo development
PMID: 37148315
Disease Associationsⓘ20
female infertility due to zona pellucida defectOpen Targets
0.15Weak
inherited oocyte maturation defectOpen Targets
0.14Weak
injuryOpen Targets
0.09Suggestive
Female infertility due to fertilization defectOpen Targets
0.08Suggestive
oocyte maturation defect 14Open Targets
0.07Suggestive
oocyte maturation defect 5Open Targets
0.07Suggestive
female infertility due to oocyte meiotic arrestOpen Targets
0.07Suggestive
premature ovarian failure 19Open Targets
0.06Suggestive
oocyte maturation defect 9Open Targets
0.06Suggestive
oocyte maturation defect 13Open Targets
0.06Suggestive
oocyte/zygote/embryo maturation arrest 21Open Targets
0.06Suggestive
oocyte maturation defect 12Open Targets
0.06Suggestive
Hydatidiform MoleOpen Targets
0.05Suggestive
oocyte/zygote/embryo maturation arrest 17Open Targets
0.05Suggestive
oocyte/zygote/embryo maturation arrest 20Open Targets
0.05Suggestive
oocyte maturation defect 11Open Targets
0.05Suggestive
oocyte maturation defect 3Open Targets
0.05Suggestive
oocyte maturation defect 7Open Targets
0.05Suggestive
oocyte/zygote/embryo maturation arrest 19Open Targets
0.05Suggestive
Rare genetic female infertilityOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
KHDC1Protein interaction97%KHDC3LProtein interaction84%TLE6Protein interaction73%PADI6Protein interaction72%NLRP5Protein interaction70%NLRP2Protein interaction67%
Tissue Expression6 tissues
Lung
100%
Ovary
90%
Liver
90%
Brain
10%
Heart
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
OOEPKHDC1KHDC3LTLE6PADI6NLRP5NLRP2
PROTEIN STRUCTURE
Preparing viewer…
PDB8X7V · 3.01 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.63LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.06 [0.69–1.63]
RankingsWhere OOEP stands among ~20K protein-coding genes
  • #16,240of 20,598
    Most Researched13
  • #15,796of 17,882
    Most Constrained (LOEUF)1.63
Genes detectedOOEP
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Maternal-effect gene Ces5/Ooep/Moep19/Floped is essential for oocyte cytoplasmic lattice formation and embryonic development at the maternal-zygotic stage transition.
PMID: 20590823
Genes Cells · 2010
1.00
2
NLRP7 participates in the human subcortical maternal complex and its variants cause female infertility characterized by early embryo arrest.
PMID: 37148315
J Mol Med (Berl) · 2023
0.90
3
Mutations in OOEP and NLRP5 identified in infertile patients with early embryonic arrest.
PMID: 35946397
Hum Mutat · 2022
0.80
4
Cryo-EM structure of the human subcortical maternal complex and the associated discovery of infertility-associated variants.
PMID: 39379527
Nat Struct Mol Biol · 2024
0.70
5
Gene birth, death, and divergence: the different scenarios of reproduction-related gene evolution.
PMID: 19129511
Biol Reprod · 2009
0.60