TLE5 (TLE family member 5, transcriptional modulator)

Gene

• Entrez ID: 166
• Gene name: TLE family member 5, transcriptional modulator
• Gene symbol: TLE5
• Synonyms (NCBI Gene): AES, AES-1, AES-2, ESP1, GRG, GRG5, Grg-5
• Chromosome: 19
• Chromosome location: 19p13.3
• Summary: The protein encoded by this gene is similar in sequence to the amino terminus of Drosophila enhancer of split groucho, a protein involved in neurogenesis during embryonic development. The encoded protein, which belongs to the groucho/TLE family of protein

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	10660609
GO:0001501	Process	Skeletal system development	IEA
GO:0003714	Function	Transcription corepressor activity	IDA	19460168
GO:0003714	Function	Transcription corepressor activity	IEA
GO:0003714	Function	Transcription corepressor activity	IPI	10660609
GO:0005515	Function	Protein binding	IPI	10660609, 11390640, 12441302, 15006356, 22952044, 23732115, 25416956, 25910212, 26871637, 27107012, 29892012, 31515488, 32296183, 32814053, 35140242
GO:0005634	Component	Nucleus	IDA	22952044
GO:0005634	Component	Nucleus	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0010629	Process	Negative regulation of gene expression	IMP	15006356
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0040008	Process	Regulation of growth	IEA
GO:0042802	Function	Identical protein binding	IPI	27107012, 32296183
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	19460168
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0060761	Process	Negative regulation of response to cytokine stimulus	IMP	15489227
GO:0070555	Process	Response to interleukin-1	IDA	15489227
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IDA	19460168
GO:2000210	Process	Positive regulation of anoikis	IMP	15006356

Other IDs

• MIM: 600188
• HGNC: 307
• e!Ensembl: ENSG00000104964

Protein

• UniProt ID: Q08117
• Protein name: TLE family member 5 (Amino-terminal enhancer of split) (Amino enhancer of split) (Gp130-associated protein GAM) (Grg-5) (Groucho-related protein 5) (Protein ESP1) (Protein GRG) (TLE family member 5, transcriptional modulator)
• Protein function: Transcriptional corepressor. Acts as a dominant repressor towards other family members. Inhibits NF-kappa-B-regulated gene expression. May be required for the initiation and maintenance of the differentiated state. Essential for the transcriptio
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03920	TLE_N	2 → 132	Groucho/TLE N-terminal Q-rich domain	Family

• Tissue specificity: TISSUE SPECIFICITY: Found predominantly in muscle, heart and Placenta. In fetal tissues, abundantly expressed in the heart, lung, kidney, brain and liver.
• Sequence:

  MMFPQSRHSGSSHLPQQLKFTTSDSCDRIKDEFQLLQAQYHSLKLECDKLASEKSEMQRH
  YVMYYEMSYGLNIEMHKQAEIVKRLNGICAQVLPYLSQEHQQQVLGAIERAKQVTAPELN
  SIIRQQLQAHQLSQLQALALPLTPLPVGLQPPSLPAVSAGTGLLSLSALGSQAHLSKEDK
  NGHDGDTHQEDDGEKSD

• Sequence length: 197

Associated diseases

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
MYOCARDIAL ISCHEMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	21245488		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	16452182		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet disease	Pubtator	36857067	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	28178391		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	27561171		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	26229111, 27561171		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	33754069	Associate	★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	17392437, 18811887, 19018014, 19222585, 19699556, 20573059, 20637114, 21935417, 23991618		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	30081208		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	28874301		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	29105069, 29105075		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	21245488		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	28178391		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23546594, 30214018		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	28178391		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	30081208		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	28930378		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	CTD_human_DG	16214533		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasms	Neoplasms	BEFREE	16452182, 23546594, 28178391, 30776234		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	20582167		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	28930378		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	28178391		★☆☆☆☆ Found in Text Mining only
Pulmonary Cystic Fibrosis	Pulmonary Cystic Fibrosis	BEFREE	21935417, 23991618		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	Pubtator	36857067	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	36553500	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	35528004	Associate	★☆☆☆☆ Found in Text Mining only