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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
TLE6
TLE family member 6, subcortical maternal complex member
Chromosome 19 Β· 19p13.3
NCBI Gene: 79816Ensembl: ENSG00000104953.21HGNC: HGNC:30788UniProt: Q6PJM9
23PubMed Papers
21Diseases
0Drugs
7Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein-containing complexstructural constituent of cytoplasmic latticeembryonic process involved in female pregnancyprotein bindingRare genetic female infertilityfemale infertility due to oocyte meiotic arrestsmoking initiationFemale infertility due to fertilization defect
✦AI Summary

TLE6 encodes a core component of the subcortical maternal complex (SCMC), a multiprotein complex essential for early mammalian embryonic development 1. The SCMC consists of TLE6, NLRP5 (MATER), and OOEP (FLOPED), with TLE6 being embraced by MATER through its NACHT and LRR domains 1. Functionally, the SCMC regulates cell cycle progression during maternal-to-embryo transition by stabilizing 14-3-3 protein and controlling CDC25B, thereby ensuring proper activation of maturation-promoting factor and mitotic entry in zygotes 2. TLE6 recruitment to the SCMC is enhanced by phosphorylation 2. Mutations in TLE6 cause oocyte/zygote/embryo maturation arrest 15, a reproductive disorder characterized by preimplantation embryonic developmental arrest 34. Pathogenic TLE6 variants can result in aberrant RNA splicing and protein truncation, leading to disrupted maternal mRNA clearance and failure of embryo genome activation 4. The structural basis of human SCMC reveals that missense variants like p.A396T can destabilize the complex, providing a mechanism-based approach for identifying deleterious variants associated with female infertility 5. TLE6 deficiencies are among the genetic causes of total fertilization failure and recurrent IVF/ICSI failure, highlighting its clinical significance in reproductive medicine 67.

Sources cited
1
TLE6 is a core component of SCMC along with MATER and FLOPED, with structural details of complex assembly
PMID: 38177687
2
SCMC regulates cell cycle via 14-3-3 and CDC25B during maternal-to-embryo transition
PMID: 39406751
3
TLE6 mutations cause oocyte/zygote/embryo maturation arrest and are associated with IVF failure
PMID: 33895934
4
TLE6 mutations result in aberrant splicing and disrupted maternal mRNA clearance
PMID: 40225929
5
Human SCMC structure reveals mechanism for identifying pathogenic variants like p.A396T
PMID: 39379527
6
TLE6 deficiencies contribute to total fertilization failure
PMID: 36977357
7
TLE6 is categorized as a cytoplasmic factor involved in reproductive diseases
PMID: 35900055
Disease Associationsβ“˜21
Rare genetic female infertilityOpen Targets
0.72Strong
female infertility due to oocyte meiotic arrestOpen Targets
0.38Weak
smoking initiationOpen Targets
0.22Weak
Female infertility due to fertilization defectOpen Targets
0.05Suggestive
oocyte maturation defect 14Open Targets
0.04Suggestive
oocyte maturation defect 5Open Targets
0.04Suggestive
premature ovarian failure 19Open Targets
0.04Suggestive
oocyte maturation defect 9Open Targets
0.04Suggestive
neoplasmOpen Targets
0.04Suggestive
oocyte maturation defect 13Open Targets
0.03Suggestive
oocyte/zygote/embryo maturation arrest 21Open Targets
0.03Suggestive
oocyte maturation defect 12Open Targets
0.03Suggestive
oocyte/zygote/embryo maturation arrest 17Open Targets
0.03Suggestive
oocyte/zygote/embryo maturation arrest 20Open Targets
0.03Suggestive
premature ovarian failure 22Open Targets
0.03Suggestive
glioblastoma multiformeOpen Targets
0.03Suggestive
colorectal carcinomaOpen Targets
0.02Suggestive
Posterior Leukoencephalopathy SyndromeOpen Targets
0.02Suggestive
infertilityOpen Targets
0.02Suggestive
female infertilityOpen Targets
0.02Suggestive
Oocyte/zygote/embryo maturation arrest 15UniProt
Pathogenic Variants7
NM_001143986.2(TLE6):c.1133del (p.Ala378fs)Pathogenic
Preimplantation embryonic lethality 1|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 378
NM_001143986.2(TLE6):c.1529C>A (p.Ser510Tyr)Likely pathogenic
Preimplantation embryonic lethality 1
β˜…β˜†β˜†β˜†2024β†’ Residue 510
NM_001143986.2(TLE6):c.665dup (p.Ser223fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 223
NM_001143986.2(TLE6):c.741-1G>CLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2022
NM_001143986.2(TLE6):c.1054G>C (p.Gly352Arg)Pathogenic
Preimplantation embryonic lethality 1
β˜…β˜†β˜†β˜†2022β†’ Residue 352
NM_001143986.2(TLE6):c.376del (p.Thr126fs)Likely pathogenic
Preimplantation embryonic lethality 1
β˜…β˜†β˜†β˜†β†’ Residue 126
NM_001143986.2(TLE6):c.805_806del (p.Lys269fs)Likely pathogenic
Preimplantation embryonic lethality 1
β˜†β˜†β˜†β˜†2020β†’ Residue 269
View on ClinVar β†—
Related Genes
NLRP2Protein interaction81%HLFProtein interaction79%TLE5Protein interaction78%OOEPProtein interaction73%NLRP5Protein interaction68%PADI6Protein interaction64%
Tissue Expression6 tissues
Liver
100%
Brain
59%
Lung
53%
Heart
16%
Ovary
14%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
TLE6NLRP2HLFTLE5OOEPNLRP5PADI6
PROTEIN STRUCTURE
Preparing viewer…
PDB8X7V Β· 3.01 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.12LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.92 [0.76–1.12]
RankingsWhere TLE6 stands among ~20K protein-coding genes
  • #13,542of 20,598
    Most Researched23
  • #3,266of 5,498
    Most Pathogenic Variants7
  • #11,564of 17,882
    Most Constrained (LOEUF)1.12
Genes detectedTLE6
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Genetic factors as potential molecular markers of human oocyte and embryo quality.
PMID: 33895934
J Assist Reprod Genet Β· 2021
1.00
2
Biallelic Recessive Mutations in
PMID: 40225929
Hum Mutat Β· 2024
0.90
3
Total fertilization failure after ICSI: insights into pathophysiology, diagnosis, and management through artificial oocyte activation.
PMID: 36977357
Hum Reprod Update Β· 2023
0.80
4
Assisted oocyte activation does not overcome recurrent embryo developmental problems.
PMID: 36931261
Hum Reprod Β· 2023
0.70
5
The subcortical maternal complex modulates the cell cycle during early mammalian embryogenesis via 14-3-3.
PMID: 39406751
Nat Commun Β· 2024
0.60