1. Gene
  2. TLE6 - TLE family member 6, subcortical maternal complex member Gene

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
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

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