Entity Details

Primary name TLE6
Entity type gene
Source Source Link

Details

PrimaryID79816
RefseqGeneNG_051563
SymbolTLE6
NameTLE family member 6, subcortical maternal complex member
Chromosome19
Location19p13.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-03-12
ModificationDate2021-06-22

Ontological Relatives

UniProt IDsTLE6_HUMAN

GO terms

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GOName
GO:0000122 negative regulation of transcription by RNA polymerase II
GO:0003714 transcription corepressor activity
GO:0005634 nucleus
GO:0005667 transcription regulator complex
GO:0005737 cytoplasm
GO:0005938 cell cortex
GO:0007015 actin filament organization
GO:0032991 protein-containing complex
GO:0040019 positive regulation of embryonic development
GO:0051293 establishment of spindle localization
GO:0051302 regulation of cell division
GO:0051643 endoplasmic reticulum localization
GO:0051646 mitochondrion localization
GO:0060136 embryonic process involved in female pregnancy
GO:0090090 negative regulation of canonical Wnt signaling pathway
GO:0106333 subcortical maternal complex

Diseases

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Disease IDSourceNameDescription
616814 OMIMPreimplantation embryonic lethality 1 (PREMBL1)A rare cause of female primary infertility. In affected women, ovulation proceeds normally and the retrieved oocytes appear normal, but zygote formation and division are severely impaired. Inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry.

Interactions

9 interactions