TLE6 (TLE family member 6, subcortical maternal complex member)

Gene

• Entrez ID: 79816
• Gene name: TLE family member 6, subcortical maternal complex member
• Gene symbol: TLE6
• Synonyms (NCBI Gene): GRG6, OZEMA15, PREMBL
• Chromosome: 19
• Chromosome location: 19p13.3
• Summary: This gene encodes a member of the Groucho/ transducin-like Enhancer of split family of transcriptional co-repressors. The encoded protein is a component of the mammalian subcortical maternal complex, which is required for preimplantation development. In m

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs767222404	C>A,G	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs776453307	C>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1426356	hsa-miR-3064-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS
GO:0003714	Function	Transcription corepressor activity	IBA
GO:0005515	Function	Protein binding	IPI	25542835, 26537248, 32814053
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005667	Component	Transcription regulator complex	IBA
GO:0005737	Component	Cytoplasm	IDA	25542835
GO:0005737	Component	Cytoplasm	IEA
GO:0005938	Component	Cell cortex	ISS
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0007015	Process	Actin filament organization	ISS
GO:0007283	Process	Spermatogenesis	ISS
GO:0030317	Process	Flagellated sperm motility	ISS
GO:0032502	Process	Developmental process	IEA
GO:0032991	Component	Protein-containing complex	IMP	26537248
GO:0040019	Process	Positive regulation of embryonic development	ISS
GO:0044725	Process	Epigenetic programming in the zygotic pronuclei	ISS
GO:0051293	Process	Establishment of spindle localization	ISS
GO:0051302	Process	Regulation of cell division	ISS
GO:0051643	Process	Endoplasmic reticulum localization	ISS
GO:0051646	Process	Mitochondrion localization	ISS
GO:0060136	Process	Embryonic process involved in female pregnancy	IMP	26537248
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IBA
GO:0097225	Component	Sperm midpiece	ISS
GO:0106333	Component	Subcortical maternal complex	IDA	25542835, 26537248, 39379527
GO:0106333	Component	Subcortical maternal complex	IEA
GO:0140089	Process	Protein storage	IDA	37922900
GO:0140094	Function	Structural constituent of cytoplasmic lattice	IDA	37922900
GO:0140095	Component	Cytoplasmic lattice	IDA	37922900

Other IDs

• MIM: 612399
• HGNC: 30788
• e!Ensembl: ENSG00000104953

Protein

• UniProt ID: Q9H808
• Protein name: Transducin-like enhancer protein 6
• Protein function: Component of the subcortical maternal complex (SCMC), a multiprotein complex that plays a key role in early embryonic development (PubMed:26537248). The SCMC complex is a structural constituent of cytoplasmic lattices, which consist in fibrous s
• PDB: 8X7V, 8X7W
• Sequence:

  MTSRDQPRPKGPPKSTSPCPGISNSESSPTLNYQGILNRLKQFPRFSPHFAAELESIYYS
  LHKIQQDVAEHHKQIGNVLQIVESCSQLQGFQSEEVSPAEPASPGTPQQVKDKTLQESSF
  EDIMATRSSDWLRRPLGEDNQPETQLFWDKEPWFWHDTLTEQLWRIFAGVHDEKAKPRDR
  QQAPGLGQESKAPGSCDPGTDPCPEDASTPRPPEASSSPPEGSQDRNTSWGVVQEPPGRA
  SRFLQSISWDPEDFEDAWKRPDALPGQSKRLAVPCKLEKMRILAHGELVLATAISSFTRH
  VFTCGRRGIKVWSLTGQVAEDRFPESHLPIQTPGAFLRTCLLSSNSRSLLTGGYNLASVS
  VWDLAAPSLHVKEQLPCAGLNCQALDANLDANLAFASFTSGVVRIWDLRDQSVVRDLKGY
  PDGVKSIVVKGYNIWTGGPDACLRCWDQRTIMKPLEYQFKSQIMSLSHSPQEDWVLLGMA
  NGQQWLQSTSGSQRHMVGQKDSVILSVKFSPFGQWWASVGMDDFLGVYSMPAGTKVFEVP
  EMSPVTCCDVSSNNRLVVTGSGEHASVYQITY

• Sequence length: 572

Pathways

KEGG:

Wnt signaling pathway
Notch signaling pathway

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Preimplantation embryonic lethality 1	Pathogenic; Likely pathogenic	rs1376982287, rs767222404, rs776453307, rs752098612	RCV002294524 RCV000207476 RCV000519403 RCV001250897	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
FEMALE INFERTILITY DUE TO OOCYTE MEIOTIC ARREST	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 15	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TLE6-related disorder	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Autistic Disorder	Associate	19454485	★☆☆☆☆ Found in Text Mining only
Carcinoma Embryonal	Associate	34036456, 35946397, 36271123, 40225929	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Associate	34373442	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Associate	35946397	★☆☆☆☆ Found in Text Mining only
Early Onset Glaucoma	Associate	35946397	★☆☆☆☆ Found in Text Mining only
Infertility	Associate	34036456	★☆☆☆☆ Found in Text Mining only
Infertility Female	Associate	31897846, 34036456, 34264011, 36271123, 40225929	★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Associate	31897846, 32840018, 33073652, 34036456, 34264011, 35946397, 36271123	★☆☆☆☆ Found in Text Mining only