TLE7

Summary

TLE7 (TLE family member 7, HGNC:53648) is a protein-coding gene on chromosome 16q22.2, encoding Transducin-like enhancer protein 7 (A0A1W2PR48).

Predicted to enable transcription corepressor activity. Predicted to be involved in negative regulation of canonical Wnt signaling pathway. Predicted to be part of transcription regulator complex. Predicted to be active in nucleus.

Source: NCBI Gene 102723796 — RefSeq curated summary.

At a glance

• MANE Select transcript: NM_001367365

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:53648
Approved symbol	TLE7
Name	TLE family member 7
Location	16q22.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000260734
Ensembl biotype	protein_coding
Entrez	102723796

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000561754, ENST00000927804

RefSeq mRNA: 1 — MANE Select: NM_001367365 NM_001367365

CCDS: CCDS92193

Canonical transcript exons

ENST00000561754 — 10 exons

Exon	Start	End
ENSE00002586894	71431121	71431274
ENSE00002593749	71431421	71431562
ENSE00002598707	71431761	71432002
ENSE00002623320	71430668	71430741
ENSE00002653048	71432110	71432325
ENSE00003365749	71429980	71430366
ENSE00003802086	71432870	71432892
ENSE00003809683	71432665	71432723
ENSE00003811335	71433014	71433420
ENSE00003828630	71441969	71442054

Expression profiles

Bgee: expression breadth tissue_specific, 6 present calls, max score 88.85.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0277 / max 15.9594, expressed in 13 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
158004	0.0277	13

Top tissues by expression

129 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	88.85	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	78.39	gold quality
sural nerve	UBERON:0015488	42.12	gold quality
testis	UBERON:0000473	40.47	gold quality
right testis	UBERON:0004534	40.27	gold quality
left testis	UBERON:0004533	38.69	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
bone marrow cell	CL:0002092	36.16	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
bone marrow	UBERON:0002371	32.90	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
muscle tissue	UBERON:0002385	31.06	gold quality
placenta	UBERON:0001987	30.72	gold quality
lymph node	UBERON:0000029	30.08	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
vermiform appendix	UBERON:0001154	29.31	gold quality
prefrontal cortex	UBERON:0000451	29.20	gold quality
monocyte	CL:0000576	28.29	gold quality
leukocyte	CL:0000738	28.23	gold quality
liver	UBERON:0002107	28.19	gold quality
duodenum	UBERON:0002114	28.14	gold quality
blood	UBERON:0000178	27.59	gold quality
tonsil	UBERON:0002372	27.05	gold quality
islet of Langerhans	UBERON:0000006	26.90	gold quality
gall bladder	UBERON:0002110	25.98	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	25.89	gold quality
urinary bladder	UBERON:0001255	25.72	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.63

Regulation

Is transcription factor: no

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	tle2b	ENSDARG00000008767
danio_rerio	tle2a	ENSDARG00000042484
danio_rerio	tle2c	ENSDARG00000067832
mus_musculus	Tle7	ENSMUSG00000095941
rattus_norvegicus	Tle7	ENSRNOG00000038741

Paralogs (6): TLE2 (ENSG00000065717), TLE6 (ENSG00000104953), TLE5 (ENSG00000104964), TLE4 (ENSG00000106829), TLE3 (ENSG00000140332), TLE1 (ENSG00000196781)

Protein

Protein identifiers

Transducin-like enhancer protein 7 — A0A1W2PR48 (reviewed: A0A1W2PR48)

All UniProt accessions (1): A0A1W2PR48

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the WD repeat Groucho/TLE family.

RefSeq proteins (1): NP_001354294* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001680	WD40_rpt	Repeat
IPR009146	Groucho_enhance	Family
IPR015943	WD40/YVTN_repeat-like_dom_sf	Homologous_superfamily
IPR036322	WD40_repeat_dom_sf	Homologous_superfamily

Pfam: PF00400

UniProt features (11 total): repeat 5, compositionally biased region 3, region of interest 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A0A1W2PR48-F1	72.89	0.54

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 17 (showing top): chr16q22, GOBP_REGULATION_OF_WNT_SIGNALING_PATHWAY, GOBP_CANONICAL_WNT_SIGNALING_PATHWAY, GOBP_NEGATIVE_REGULATION_OF_WNT_SIGNALING_PATHWAY, GOCC_TRANSCRIPTION_REGULATOR_COMPLEX, GOMF_TRANSCRIPTION_COREPRESSOR_ACTIVITY, GOBP_NEGATIVE_REGULATION_OF_NUCLEOBASE_CONTAINING_COMPOUND_METABOLIC_PROCESS, GOMF_TRANSCRIPTION_COREGULATOR_ACTIVITY, GOBP_NEGATIVE_REGULATION_OF_CANONICAL_WNT_SIGNALING_PATHWAY, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY, GOMF_MOLECULAR_ADAPTOR_ACTIVITY, GOBP_REGULATION_OF_CANONICAL_WNT_SIGNALING_PATHWAY, ZNF320_TARGET_GENES, GOBP_WNT_SIGNALING_PATHWAY, GOBP_NEGATIVE_REGULATION_OF_CELL_COMMUNICATION

GO Biological Process (3): negative regulation of canonical Wnt signaling pathway (GO:0090090), regulation of DNA-templated transcription (GO:0006355), negative regulation of DNA-templated transcription (GO:0045892)

GO Molecular Function (2): transcription corepressor activity (GO:0003714), protein binding (GO:0005515)

GO Cellular Component (2): nucleus (GO:0005634), transcription regulator complex (GO:0005667)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
DNA-templated transcription	2
negative regulation of Wnt signaling pathway	1
canonical Wnt signaling pathway	1
regulation of canonical Wnt signaling pathway	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
regulation of DNA-templated transcription	1
negative regulation of RNA biosynthetic process	1
transcription coregulator activity	1
negative regulation of DNA-templated transcription	1
binding	1
intracellular membrane-bounded organelle	1
protein-containing complex	1

Protein interactions and networks

STRING

230 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TLE7	H3BTC1	H3BTC1	717
TLE7	IRS4	O14654	716
TLE7	IRS2	Q9Y4H2	680
TLE7	SCGB1D4	Q6XE38	626
TLE7	IRS1	P35568	622
TLE7	IGF1	P01343	591
TLE7	INS	P01308	553
TLE7	GCK	P35557	548
TLE7	INSR	P06213	464
TLE7	IGF1R	P08069	419
TLE7	GRB2	P29354	402
TLE7	PDPK1	O15530	387
TLE7	PIK3CG	P48736	387
TLE7	FOXM1	Q08050	381
TLE7	F5H3C5	F5H3C5	370
TLE7	SOD2	P04179	370

IntAct

2 interactions, top by confidence:

A	B	Type	Score
KLHL22	TRAV18	psi-mi:“MI:0914”(association)	0.350

ESM2 similar proteins: A0A140LI67, A0A1W2PR48, A0JP70, D3YYM4, F1LW30, O13034, O15040, O70173, Q15345, Q3SXM0, Q3UDP0, Q3UJB9, Q3ULW6, Q3V129, Q3ZAV8, Q58DC2, Q5F479, Q5JV73, Q5M9H0, Q5M9H1, Q5R6T6, Q5R9H2, Q68DX3, Q6IRN0, Q6NV72, Q6P2E9, Q6P4K6, Q6PCD5, Q6ZPG2, Q6ZW76, Q7TNH6, Q80TQ5, Q8BLD6, Q8C008, Q8C5V5, Q8CBW4, Q8CIK8, Q8IWE5, Q8JZL1, Q8K1C9

Diamond homologs: A0A1W2PR48, O02482, O13166, O13168, O42469, O42478, P16371, Q04724, Q04725, Q04726, Q04727, Q07141, Q08122, Q62440, Q62441, Q9H808, Q9JIT3, Q9WVB2, Q9WVB3, A2RRU3, O14435, O42470, O94365, P16520, P40066, P63002, P63003, P79083, Q08117, Q10281, Q5A7Q3, Q5GIS3, Q5REE0, Q8C7V3, Q8TED0, A6ZQL5, A8XZJ9, P47025, Q06078, Q08924

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

0 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	0
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

2877 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:71431471:A:G	W315R	0.993
16:71431471:A:T	W315R	0.993
16:71431497:C:T	G306E	0.991
16:71432199:A:C	Y174D	0.991
16:71431131:A:C	F379L	0.990
16:71431131:A:T	F379L	0.990
16:71431133:A:G	F379L	0.990
16:71431797:A:T	V272D	0.990
16:71431915:A:G	W233R	0.989
16:71431915:A:T	W233R	0.989
16:71431469:C:A	W315C	0.988
16:71431469:C:G	W315C	0.988
16:71431789:A:G	W275R	0.988
16:71431789:A:T	W275R	0.988
16:71431787:C:A	W275C	0.986
16:71431787:C:G	W275C	0.986
16:71432167:C:A	W184C	0.986
16:71432167:C:G	W184C	0.986
16:71431822:A:G	C264R	0.985
16:71431504:A:G	W304R	0.984
16:71431504:A:T	W304R	0.984
16:71431808:G:C	F268L	0.984
16:71431808:G:T	F268L	0.984
16:71431810:A:G	F268L	0.984
16:71431950:A:G	L221P	0.984
16:71432169:A:G	W184R	0.984
16:71432169:A:T	W184R	0.984
16:71431479:A:G	L312P	0.982
16:71431846:C:G	A256P	0.982
16:71431913:C:A	W233C	0.981

dbSNP variants (sampled 300 via entrez): RS1000189304 (16:71429821 T>C), RS1000428175 (16:71441256 T>A,C,G), RS1000532108 (16:71436624 C>T), RS1000537780 (16:71440841 C>T), RS1000646564 (16:71436866 T>C), RS1000711184 (16:71429952 G>T), RS1000793134 (16:71431150 C>T), RS1000906718 (16:71435485 T>C), RS1000934202 (16:71435858 A>T), RS1001142956 (16:71441988 T>G), RS1001184724 (16:71430220 C>T), RS1001235254 (16:71442206 G>A,T), RS1001267128 (16:71441647 C>T), RS1001435007 (16:71436074 C>T), RS1001457914 (16:71439579 C>G)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

3 total (human), top 3 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
ethyl-p-hydroxybenzoate	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Particulate Matter	decreases expression, increases abundance	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.