TLE6: TLE Family Member 6, Subcortical Maternal Complex Member
A key component of the subcortical maternal complex (SCMC) essential for early embryonic development and zygotic genome activation.
Gene Information Card
| Symbol | TLE6 |
|---|---|
| Full Name | TLE family member 6, subcortical maternal complex member |
| Gene Type | protein-coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 79816 ncbi.nlm.nih.gov/gene/79816 |
| Ensembl ID | ENSG00000104953 |
| UniProt ID | Q9H808 |
| OMIM ID | 615091 |
| HGNC ID | 30788 |
| Aliases | C19orf39, FLJ12606, SCMC member |
Description
TLE6 (TLE family member 6) encodes a protein that is a core component of the subcortical maternal complex (SCMC), a multi-protein complex essential for early embryonic development, particularly for zygotic genome activation and cleavage-stage progression. The protein is expressed predominantly in oocytes and preimplantation embryos. Mutations in TLE6 are associated with autosomal recessive female infertility due to early embryonic arrest and failure of zygotic genome activation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Female infertility due to oocyte/embryonic developmental arrest (MIM: 619039) | Loss-of-function mutations in TLE6 disrupt the subcortical maternal complex, impairing zygotic genome activation and leading to early embryonic arrest at the cleavage stage. | OMIM, ClinVar, PubMed (PMID: 26029707, 31564436) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Ovary | 0.0 | Not detected |
| Testis | 0.0 | Not detected |
| Fallopian tube | 0.0 | Not detected |
| Uterus | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Oocyte (human) | N/A | High expression; essential for SCMC function |
| Preimplantation embryo (cleavage stage) | N/A | Transient expression; critical for zygotic genome activation |
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 protein function; associated with embryonic arrest |
| c.238C>T (p.Arg80*) | Nonsense | Rare | Premature termination; loss of function |
| c.1042C>T (p.Arg348Trp) | Missense | Rare | Likely loss of function; disrupts SCMC assembly |
Mutation functional classification
Loss of Function (LOF)
All reported pathogenic TLE6 mutations are loss-of-function, leading to absence or dysfunction of the SCMC and early embryonic arrest.
Gain of Function (GOF)
None reported.
Dominant Negative (DN)
None reported; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • nucleus (GO:0005634) |
| • cytoplasm (GO:0005737) | • centrosome (GO:0005813) |
| • spindle (GO:0005819) | • cytosol (GO:0005829) |
| • spermatogenesis (GO:0007283) | • female gamete generation (GO:0007292) |
| • embryo development (GO:0009790) | • membrane (GO:0016020) |
| • protein-containing complex (GO:0032991) | • subcortical maternal complex (GO:0048475) |
Pathways
• Subcortical maternal complex (SCMC) pathway
• Zygotic genome activation pathway
Protein Summary
TLE6 is a 412-amino acid protein (UniProt Q9H808) that localizes to the subcortex of oocytes and early embryos. It interacts with other SCMC components (e.g., NLRP5, OOEP, KHDC3L) to form a complex essential for cleavage-stage development. The protein contains a TLE N-terminal domain and a WD40 repeat domain, which mediate protein-protein interactions within the SCMC. Loss of TLE6 disrupts SCMC integrity, leading to failure of zygotic genome activation and embryonic arrest at the 2- to 4-cell stage.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TLE6 Knockout HEK293 Cell Line | EDJ-KQ15741 | Human | 79816 | Details Get a Quote |
| TLE6 Knockout A-549 Cell Line | EDJ-KQ46663 | Human | 79816 | Details Get a Quote |
| TLE6 Knockout HCT 116 Cell Line | EDJ-KQ46664 | Human | 79816 | Details Get a Quote |
| TLE6 Knockout HeLa Cell Line | EDJ-KQ46665 | Human | 79816 | Details Get a Quote |
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