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

Homo sapiens

Also known as GRG6; PREMBL

Gene ID: 79816 | Gene type: protein coding

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	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25542835	GOA

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

Cellular Component GO Annotation	Evidence	Reference	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

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

Bioactive Molecules (1)

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

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