TLE6 - TLE family member 6, subcortical maternal complex member Gene

Also Known as GRG6; PREMBL

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 79816

About TLE6

Cytogenetic location: 19p13.3 Genomic coordinates (GRCh38): 19:2,977,401-2,995,179 (from NCBI)

This gene has 10 transcripts (splice variants), 83 orthologues, 6 paralogues and is associated with 1 phenotype. Broad expression in thyroid (RPKM 2.5), placenta (RPKM 2.5) and 21 other tissues.

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 mouse, knock out of this gene results in cleavage-stage embryonic arrest resulting from defective cytoplasmic F-actin meshwork formation and asymmetric cell division. In human, an allelic variant in this gene is associated with preimplantation embryonic lethality. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]

TLE6 Products (2)

mRNA	Protein	Name
NM_001143986.2	NP_001137458.1	transducin-like enhancer protein 6 isoform 1
NM_024760.3	NP_079036.1	transducin-like enhancer protein 6 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25542835	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in embryonic process involved in female pregnancy	IMP IMP: Inferred from mutant phenotype	26537248	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	25542835	GOA
part of protein-containing complex	IMP IMP: Inferred from mutant phenotype	26537248	GOA
part of subcortical maternal complex	IDA IDA: Inferred from direct assay	25542835	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names	Protein Names
transducin-like enhancer protein 6	transducin like enhancer of split 6

TLE6 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	TLE6	Q9H808	BDNF	Homo sapiens	P23560-2	Y2H Pooling	32814053
Intra	TLE6	Q9H808	BDNF	Homo sapiens	P23560-2	Validated Y2H	32814053
Intra	TLE6	Q9H808	BDNF	Homo sapiens	P23560-2	Y2H Array	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Preimplantation Embryonic Lethality 1	Preimplantation Embryonic Lethality PREMBL1 Prembl Lethality, Embryonic, Preimplantation Lethality, Embryonic, Preimplantation, Type 1
Infertility
Gestational Trophoblastic Neoplasm	Hydatidiform Mole Molar Pregnancy Gestational Trophoblastic Neoplasia Gestational Trophoblastic Tumor Gtn Gestational Trophoblastic Disease Gestational Trophoblastic Neoplasms Hydatidiform Mole, Recurrent, 1 Hydatidiform Mole Benign Trophoblastic Disease Trophoblastic Disease Nos Trophoblastic Disorder Vesicular Mole Nos Vesicular Mole Hydatidiform Mole Nos
Warburg Micro Syndrome 1	Warburg Micro Syndrome Micro Syndrome Warbm WARBM1 Warburg Sjo Fledelius Syndrome Warburg-Sjo-Fledelius Syndrome Micro Syndrome 1 Microcephaly, Microcornea, Congenital Cataract, Intellectual Disability, Optic Atrophy And Hypogenitalism
Trophoblastic Neoplasm	Trophoblastic Tumor Trophoblastic Neoplasms
Beckwith-Wiedemann Syndrome	Wiedemann-Beckwith Syndrome BWS Exomphalos-Macroglossia-Gigantism Syndrome Emg Syndrome Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation Emg Abnormality Wbs Exomphalos Macroglossia Gigantism Syndrome Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation Macroglossia Exomphalos Gigantism

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14568	TLE6 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	TLE6	VGNC	VGNC:79879
Mus musculus	TLE6	MGD	MGI:2149593
Felis catus	TLE6	VGNC	VGNC:80735
Rattus norvegicus	TLE6	RGD	RGD:1561530
Bos taurus	TLE6	VGNC	VGNC:52895
Others	TLE6	NCBI