Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	79816
Gene name	TLE family member 6, subcortical maternal complex member
Gene symbol	TLE6
Synonyms (NCBI Gene)	GRG6OZEMA15PREMBL
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

Show/Hide all (2)

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

Show/Hide all (1)

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

Show/Hide all (29)

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

MIM	HGNC	e!Ensembl
612399	30788	ENSG00000104953

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

Family and domains

Sequence

MTSRDQPRPKGPPKSTSPCPGISNSESSPTLNYQGILNRLKQFPRFSPHFAAELESIYYS
LHKIQQDVAEHHKQIGNVLQIVESCSQLQGFQSEEVSPAEPASPGTPQQVKDKTLQESSF
EDIMATRSSDWLRRPLGEDNQPETQLFWDKEPWFWHDTLTEQLWRIFAGVHDEKAKPRDR
QQAPGLGQESKAPGSCDPGTDPCPEDASTPRPPEASSSPPEGSQDRNTSWGVVQEPPGRA
SRFLQSISWDPEDFEDAWKRPDALPGQSKRLAVPCKLEKMRILAHGELVLATAISSFTRH
VFTCGRRGIKVWSLTGQVAEDRFPESHLPIQTPGAFLRTCLLSSNSRSLLTGGYNLASVS
VWDLAAPSLHVKEQLPCAGLNCQALDANLDANLAFASFTSGVVRIWDLRDQSVVRDLKGY
PDGVKSIVVKGYNIWTGGPDACLRCWDQRTIMKPLEYQFKSQIMSLSHSPQEDWVLLGMA
NGQQWLQSTSGSQRHMVGQKDSVILSVKFSPFGQWWASVGMDDFLGVYSMPAGTKVFEVP
EMSPVTCCDVSSNNRLVVTGSGEHASVYQITY

Sequence length

572

Interactions

View interactions

	KEGG
	Wnt signaling pathway Notch signaling pathway

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)

Show/Hide Causal Diseases (1)

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

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
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

Show/Hide Text Mining Associations (12)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Autistic Disorder	Autism	Pubtator	19454485	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Embryonal	Embryonal carcinoma	Pubtator	34036456, 35946397, 36271123, 40225929	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	LHGDN	18551179		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	34373442	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	35946397	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal Neoplasms	BEFREE	18551179		★★★★★ ★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	34036456	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Infertility Female	Female infertility	Pubtator	31897846, 34036456, 34264011, 36271123, 40225929	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★★★★★ ★☆☆☆☆ Found in Text Mining only
PREIMPLANTATION EMBRYONIC LETHALITY 1	Preimplantation Embryonic Lethality	UNIPROT_DG	26537248		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PREIMPLANTATION EMBRYONIC LETHALITY 1	Preimplantation Embryonic Lethality	CTD_human_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PREIMPLANTATION EMBRYONIC LETHALITY 1	Preimplantation Embryonic Lethality	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

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