TLE2 TLE family member 2, transcriptional corepressor [Homo sapiens (human)] - Gene

Summary

Official Symbol: TLE2provided by HGNC
Official Full Name: TLE family member 2, transcriptional corepressorprovided by HGNC
Primary source: HGNC:HGNC:11838
See related: Ensembl:ENSG00000065717 MIM:601041; AllianceGenome:HGNC:11838
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ESG; ESG2; GRG2
Summary: Enables transcription corepressor activity. Involved in negative regulation of DNA-templated transcription and negative regulation of canonical Wnt signaling pathway. Located in focal adhesion and nuclear body. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in salivary gland (RPKM 17.9), fat (RPKM 13.6) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.3

Exon count:: 23

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (2997644..3047635, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (2971143..3021120, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (2997642..3047633, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Immunofluorescence analysis showed that TLE2 and RTA were colocalized in the same nuclear compartment in KSHV-infected cells.
Title: Cellular corepressor TLE2 inhibits replication-and-transcription- activator-mediated transactivation and lytic reactivation of Kaposi's sarcoma-associated herpesvirus.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

A009U26 (e-PCR)
- UniSTS:9987

STS-AA037755 (e-PCR)
- UniSTS:25865

RH69316 (e-PCR)
- UniSTS:13649

G32846 (e-PCR)
- UniSTS:117425

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription corepressor activity	IBA Inferred from Biological aspect of Ancestor more info
enables transcription corepressor activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in animal organ morphogenesis	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of canonical Wnt signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of canonical Wnt signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in extracellular space	HDA more info	PubMed
located_in focal adhesion	IDA Inferred from Direct Assay more info
located_in nuclear body	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
part_of transcription regulator complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: transducin-like enhancer protein 2

Names: enhancer of split groucho-like protein 2; transducin like enhancer of split 2; transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila); transducin-like enhancer of split 2, homolog of Drosophila E(sp1)

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001144761.2 → NP_001138233.1 transducin-like enhancer protein 2 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and has multiple coding region differences compared to variant 4, one of which results in a frameshift. This results in a shorter isoform (2) with distinct N- and C-termini compared to isoform 4.

Source sequence(s)

AK308137, BC017364

Consensus CDS

CCDS45913.1

UniProtKB/Swiss-Prot

Q04725

Related

ENSP00000468279.1, ENST00000591529.5

Conserved Domains (4) summary

COG2319
Location:469 → 693

WD40; WD40 repeat [General function prediction only]

pfam03920
Location:18 → 141

TLE_N; Groucho/TLE N-terminal Q-rich domain

sd00039
Location:474 → 513

7WD40; WD40 repeat [structural motif]

cl02567
Location:463 → 631

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
NM_001144762.2 → NP_001138234.1 transducin-like enhancer protein 2 isoform 3

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and has multiple coding region differences compared to variant 4. This results in a shorter isoform (2) with a shorter N-terminus compared to isoform 4.

Source sequence(s)

AC011549, AK293407, BC017364

Consensus CDS

CCDS45912.1

UniProtKB/Swiss-Prot

Q04725

Related

ENSP00000392427.2, ENST00000443826.7

Conserved Domains (4) summary

COG2319
Location:333 → 619

WD40; WD40 repeat [General function prediction only]

pfam03920
Location:1 → 68

TLE_N; Groucho/TLE N-terminal Q-rich domain

sd00039
Location:338 → 377

7WD40; WD40 repeat [structural motif]

cl02567
Location:334 → 618

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
NM_001300846.2 → NP_001287775.1 transducin-like enhancer protein 2 isoform 4

Status: VALIDATED

Description

Transcript Variant: This variant (4) represents the longest transcript and encodes the longest isoform (4).

Source sequence(s)

AC011549, AK312285, BC017364, HY046309, HY140405

Consensus CDS

CCDS74255.1

UniProtKB/TrEMBL

K7EMK7

Related

ENSP00000466542.1, ENST00000590536.5

Conserved Domains (4) summary

COG2319
Location:456 → 742

WD40; WD40 repeat [General function prediction only]

pfam03920
Location:1 → 128

TLE_N; Groucho/TLE N-terminal Q-rich domain

sd00039
Location:461 → 500

7WD40; WD40 repeat [structural motif]

cl02567
Location:457 → 741

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
NM_003260.5 → NP_003251.2 transducin-like enhancer protein 2 isoform 1

See identical proteins and their annotated locations for NP_003251.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) uses an alternate in-frame splice site in the 5' coding region, compared to variant 4. It encodes isoform 1, which is shorter by an amino acid, compared to isoform 4.

Source sequence(s)

AC011549, AW262763, BC017364

Consensus CDS

CCDS45911.1

UniProtKB/Swiss-Prot

B4DE03, E9PEV7, F8WCH2, Q04725, Q8WVY0, Q9Y6S0

Related

ENSP00000262953.5, ENST00000262953.11

Conserved Domains (4) summary

sd00039
Location:460 → 499

7WD40; WD40 repeat [structural motif]

pfam03920
Location:1 → 132

TLE_N; Groucho/TLE N-terminal Q-rich domain

cl25539
Location:456 → 740

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

cl26464
Location:126 → 366

Atrophin-1; Atrophin-1 family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

2997644..3047635 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011528230.2 → XP_011526532.1 transducin-like enhancer protein 2 isoform X1

Conserved Domains (4) summary

COG2319
Location:444 → 730

WD40; WD40 repeat [General function prediction only]

pfam03920
Location:1 → 128

TLE_N; Groucho/TLE N-terminal Q-rich domain

sd00039
Location:449 → 488

7WD40; WD40 repeat [structural motif]

cl02567
Location:445 → 729

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
XM_006722864.3 → XP_006722927.1 transducin-like enhancer protein 2 isoform X2

Conserved Domains (4) summary

COG2319
Location:456 → 680

WD40; WD40 repeat [General function prediction only]

pfam03920
Location:1 → 128

TLE_N; Groucho/TLE N-terminal Q-rich domain

sd00039
Location:461 → 500

7WD40; WD40 repeat [structural motif]

cl02567
Location:450 → 618

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...