TLE5

Summary

TLE5 (TLE family member 5, transcriptional modulator, HGNC:307) is a protein-coding gene on chromosome 19p13.3, encoding TLE family member 5 (Q08117). Transcriptional corepressor.

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 proteins, can function as a homooligomer or as a heteroologimer with other family members to dominantly repress the expression of other family member genes. Three transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 166 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 31 total
• MANE Select transcript: NM_001130

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:307
Approved symbol	TLE5
Name	TLE family member 5, transcriptional modulator
Location	19p13.3
Locus type	gene with protein product
Status	Approved
Aliases	GRG5
Ensembl gene	ENSG00000104964
Ensembl biotype	protein_coding
OMIM	600188
Entrez	166

Gene structure

Transcript identifiers

Ensembl transcripts: 20 — 12 protein_coding, 6 retained_intron, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000221561, ENST00000327141, ENST00000585557, ENST00000585782, ENST00000586003, ENST00000586742, ENST00000586839, ENST00000587083, ENST00000587393, ENST00000590067, ENST00000592330, ENST00000592414, ENST00000881093, ENST00000881094, ENST00000881095, ENST00000881096, ENST00000939226, ENST00000954167, ENST00000954168, ENST00000954169

RefSeq mRNA: 3 — MANE Select: NM_001130 NM_001130, NM_198969, NM_198970

CCDS: CCDS12101, CCDS12102

Canonical transcript exons

ENST00000327141 — 7 exons

Exon	Start	End
ENSE00002811984	3062174	3062495
ENSE00003474901	3057679	3057742
ENSE00003510071	3054120	3054194
ENSE00003530287	3061160	3061257
ENSE00003571170	3056312	3056356
ENSE00003678253	3055664	3055726
ENSE00003902475	3052910	3054040

Expression profiles

Bgee: expression breadth ubiquitous, 296 present calls, max score 99.89.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 177.3520 / max 1068.6314, expressed in 1828 samples.

FANTOM5 promoters (23 alternative TSS)

Promoter ID	TPM avg	Samples expressed
178250	95.6825	1828
178248	50.0743	1813
178249	7.0191	1732
178253	5.1293	1460
178242	4.6565	1082
178240	2.1556	1066
178251	2.0850	1041
178241	1.7339	394
178246	1.5714	1048
178252	1.2449	510

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right hemisphere of cerebellum	UBERON:0014890	99.89	gold quality
paraflocculus	UBERON:0005351	99.88	gold quality
cerebellar cortex	UBERON:0002129	99.87	gold quality
cerebellar hemisphere	UBERON:0002245	99.87	gold quality
right frontal lobe	UBERON:0002810	99.78	gold quality
anterior cingulate cortex	UBERON:0009835	99.75	gold quality
cingulate cortex	UBERON:0003027	99.73	gold quality
cerebellum	UBERON:0002037	99.69	gold quality
apex of heart	UBERON:0002098	99.69	gold quality
Brodmann (1909) area 10	UBERON:0013541	99.68	gold quality
frontal pole	UBERON:0002795	99.67	gold quality
prefrontal cortex	UBERON:0000451	99.66	gold quality
ganglionic eminence	UBERON:0004023	99.66	gold quality
right lobe of thyroid gland	UBERON:0001119	99.64	gold quality
stromal cell of endometrium	CL:0002255	99.63	gold quality
left lobe of thyroid gland	UBERON:0001120	99.63	gold quality
cortical plate	UBERON:0005343	99.63	gold quality
metanephros cortex	UBERON:0010533	99.62	gold quality
left adrenal gland cortex	UBERON:0035825	99.62	gold quality
right adrenal gland cortex	UBERON:0035827	99.62	gold quality
left adrenal gland	UBERON:0001234	99.61	gold quality
right atrium auricular region	UBERON:0006631	99.61	gold quality
right adrenal gland	UBERON:0001233	99.60	gold quality
adenohypophysis	UBERON:0002196	99.60	gold quality
hindlimb stylopod muscle	UBERON:0004252	99.60	gold quality
granulocyte	CL:0000094	99.59	gold quality
body of uterus	UBERON:0009853	99.59	gold quality
lower esophagus	UBERON:0013473	99.58	gold quality
muscle layer of sigmoid colon	UBERON:0035805	99.58	gold quality
lower esophagus muscularis layer	UBERON:0035833	99.58	gold quality

Single-cell (SCXA)

Detected in 15 experiment(s), a significant marker in 10.

Experiment	Marker?	Max mean expression
E-MTAB-3929	yes	197.45
E-HCAD-4	yes	99.02
E-MTAB-6701	yes	78.35
E-CURD-122	yes	60.09
E-HCAD-8	yes	60.09
E-MTAB-9221	yes	51.40
E-ANND-3	yes	14.33
E-HCAD-13	yes	8.87
E-GEOD-125970	yes	8.04
E-CURD-112	yes	4.44
E-GEOD-139324	no	569.03
E-GEOD-150728	no	470.74
E-MTAB-6386	no	252.44
E-HCAD-5	no	16.98
E-CURD-120	no	8.14

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

4 targets.

Target	Regulation
BCL2	Repression
EPHA3	Unknown
LEF1	Activation
RND3	Activation

Upstream regulators (CollecTRI, top): HHEX, NFE2L2

miRNA regulators (miRDB)

39 targeting TLE5, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-3689D	100.00	66.14	1181
HSA-MIR-6851-5P	100.00	65.63	1294
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-4481	100.00	66.42	1669
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-6748-5P	100.00	65.81	1057
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-4745-5P	99.98	65.95	1028
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-506-3P	99.89	73.55	3057
HSA-MIR-548D-3P	99.87	70.67	4362
HSA-MIR-548BB-3P	99.86	70.58	4354
HSA-MIR-548AC	99.84	70.77	4351
HSA-MIR-548H-3P	99.84	70.80	4349
HSA-MIR-548Z	99.84	70.80	4349
HSA-MIR-765	99.84	68.24	2442
HSA-MIR-6817-3P	99.79	68.35	2126
HSA-MIR-875-3P	99.63	69.47	2548
HSA-MIR-6134	99.63	65.68	1537
HSA-MIR-6832-5P	99.58	64.82	1132
HSA-MIR-486-3P	99.51	66.82	1901
HSA-MIR-4643	99.49	67.63	1791
HSA-MIR-6722-3P	99.45	67.62	1919

Literature-anchored findings (GeneRIF, showing 15)

• Results identify Bit1, a mitochondrial protein released into the cytoplasm during apoptosis that forms a complex with AES, a small Groucho/transducin-like enhancer of split (TLE) protein. (PMID:15006356)
• amino enhancer of split has apoptotic activity in neurons and suggest that neuroprotection by histone deacetylase-related protein is mediated by the inhibition of this activity through direct interaction. (PMID:18438919)
• Data report that the negative regulatory domain of AES inhibits AES dimerization and AES-mediated inhibition of AR-driven transcription through an interaction with the inhibitory domain. (PMID:20163360)
• LRP6-ICD interacts with AES exclusively in the nucleus and represses AES mediated TCF/LEF-1 reporter transcription. (PMID:20676368)
• Elevated levels of AES mRNA and protein were confirmed in AML1/ETO-expressing leukemia cells, as well as in other acute myeloid leukemia specimens. (PMID:21245488)
• In the presence of NUP98-HOXA9, AES caused an increase in long-term proliferation of primary human CD34+ cells with a marked increase in the numbers of primitive cells. (PMID:21937451)
• alteration of the malignant behavior of cancer cells by AES is related to RND3 regulation. (PMID:23546594)
• AES binds to PROP1 and represses its expression; PROP1 mutation is a likely cause of combined pituitary hormone deficiency. (PMID:23732115)
• GRG5/AES interacts with TCF4 and represses Wnt-mediated transcription both in human cells and zebrafish embryos. (PMID:23840876)
• heat shock cognate 70 (HSC70) is an essential component of Aes foci in colorectal cancer cells. (PMID:26229111)
• AES is a transcriptional repressor for HNF-1-alpha in pancreatic beta-cell. (PMID:26549228)
• results indicate that Aes may belong to a novel family of metastasis suppressors with a CpG-island promoter enhancer, and it is regulated transcriptionally (PMID:27561171)
• Results suggest that amino enhancer of split protein (AES) plays an important role in controlling tumor growth and metastasis of prostate cancer (PCa) by regulating both androgen receptor (AR) and Notch signaling pathway. (PMID:28178391)
• The CK1delta/epsilon-AES axis regulates tumorigenesis and metastasis in colorectal cancer. (PMID:33754069)
• Unrevealed roles of extracellular enolase-1 (ENO1) in promoting glycolysis and pro-cancer activities in multiple myeloma via hypoxia-inducible factor 1alpha. (PMID:37800625)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	chico	ENSDARG00000019588
danio_rerio	tle5	ENSDARG00000021805
mus_musculus	Tle5	ENSMUSG00000054452
rattus_norvegicus	Tle5	ENSRNOG00000052025

Paralogs (6): TLE2 (ENSG00000065717), TLE6 (ENSG00000104953), TLE4 (ENSG00000106829), TLE3 (ENSG00000140332), TLE1 (ENSG00000196781), TLE7 (ENSG00000260734)

Protein

Protein identifiers

TLE family member 5 — Q08117 (reviewed: Q08117)

Alternative names: Amino-terminal enhancer of split, Gp130-associated protein GAM, Grg-5, Groucho-related protein 5, Protein ESP1, Protein GRG, TLE family member 5, transcriptional modulator

All UniProt accessions (4): Q08117, K7ELE3, K7ELQ8, K7EQH5

UniProt curated annotations — full annotation on UniProt →

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 transcriptional repressor activity of SIX3 during retina and lens development.

Subunit / interactions. Homooligomer and heterooligomer with other family members. Binds TCF7. Binds the NF-kappa-B subunit RELA. Interacts with PHF12. Interacts (via Q domain) with SIX3. Interacts with SIX6.

Subcellular location. Nucleus.

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

Post-translational modifications. Ubiquitinated by XIAP/BIRC4.

Domain organisation. Lacks the C-terminal WD repeats.

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

Isoforms (2)

UniProt ID	Names	Canonical?
Q08117-1	1, AES-1	yes
Q08117-2	2, AES-2

RefSeq proteins (3): NP_001121, NP_945320, NP_945321 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR005617	Groucho/TLE_N	Domain
IPR009146	Groucho_enhance	Family

Pfam: PF03920

UniProt features (8 total): region of interest 2, chain 1, compositionally biased region 1, modified residue 1, splice variant 1, sequence variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q08117-F1	75.42	0.54

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (1): 196

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-4641265	Repression of WNT target genes

MSigDB gene sets: 190 (showing top): GOBP_SKELETAL_SYSTEM_DEVELOPMENT, GOBP_RESPONSE_TO_PEPTIDE, XU_GH1_AUTOCRINE_TARGETS_UP, STEARMAN_LUNG_CANCER_EARLY_VS_LATE_DN, GOBP_GROWTH, HSIAO_HOUSEKEEPING_GENES, GOBP_REGULATION_OF_WNT_SIGNALING_PATHWAY, HUMMERICH_SKIN_CANCER_PROGRESSION_DN, GTGCCTT_MIR506, GOBP_CANONICAL_WNT_SIGNALING_PATHWAY, GOBP_RESPONSE_TO_INTERLEUKIN_1, GOBP_NEGATIVE_REGULATION_OF_RESPONSE_TO_CYTOKINE_STIMULUS, NAKAMURA_TUMOR_ZONE_PERIPHERAL_VS_CENTRAL_DN, GOBP_REGULATION_OF_ANOIKIS, SPIELMAN_LYMPHOBLAST_EUROPEAN_VS_ASIAN_UP

GO Biological Process (12): negative regulation of transcription by RNA polymerase II (GO:0000122), skeletal system development (GO:0001501), negative regulation of gene expression (GO:0010629), Wnt signaling pathway (GO:0016055), regulation of growth (GO:0040008), negative regulation of DNA-templated transcription (GO:0045892), negative regulation of response to cytokine stimulus (GO:0060761), response to interleukin-1 (GO:0070555), negative regulation of canonical Wnt signaling pathway (GO:0090090), positive regulation of anoikis (GO:2000210), regulation of DNA-templated transcription (GO:0006355), regulation of transcription by RNA polymerase II (GO:0006357)

GO Molecular Function (3): transcription corepressor activity (GO:0003714), identical protein binding (GO:0042802), protein binding (GO:0005515)

GO Cellular Component (1): nucleus (GO:0005634)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Degradation of beta-catenin by the destruction complex	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
transcription by RNA polymerase II	2
negative regulation of DNA-templated transcription	2
regulation of gene expression	2
DNA-templated transcription	2
regulation of DNA-templated transcription	2
response to cytokine	2
regulation of transcription by RNA polymerase II	1
system development	1
gene expression	1
negative regulation of macromolecule biosynthetic process	1
cell surface receptor signaling pathway	1
growth	1
regulation of biological process	1
negative regulation of RNA biosynthetic process	1
negative regulation of response to stimulus	1
regulation of response to cytokine stimulus	1
negative regulation of Wnt signaling pathway	1
canonical Wnt signaling pathway	1
regulation of canonical Wnt signaling pathway	1
positive regulation of apoptotic process	1
anoikis	1
regulation of anoikis	1
regulation of RNA biosynthetic process	1
transcription coregulator activity	1
protein binding	1
binding	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

1006 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TLE5	PTRH2	Q9Y3E5	791
TLE5	DDX21	Q9NR30	707
TLE5	DDX56	Q9NY93	705
TLE5	TLE6	Q9H808	621
TLE5	RUNX1	Q01196	578
TLE5	TCF3	P15883	531
TLE5	NDFIP2	Q9NV92	476
TLE5	GRK1	Q15835	474
TLE5	CSF1R	P07333	441
TLE5	F2RL1	P55085	433
TLE5	ESRRG	P62508	430
TLE5	TLE1	Q04724	424
TLE5	TLE3	Q04726	424
TLE5	LRP6	O75581	413
TLE5	NUP98	P52948	406

IntAct

518 interactions, top by confidence:

A	B	Type	Score
TLE5	EAF1	psi-mi:“MI:0915”(physical association)	0.680
TLE5	SMAD3	psi-mi:“MI:0915”(physical association)	0.670
FSD2	TLE5	psi-mi:“MI:0915”(physical association)	0.670
TLE5	TRIM27	psi-mi:“MI:0915”(physical association)	0.670
TLE5	BIRC7	psi-mi:“MI:0915”(physical association)	0.670
ABI2	TLE5	psi-mi:“MI:0915”(physical association)	0.670
ZGPAT	TLE5	psi-mi:“MI:0915”(physical association)	0.670
NUDT22	TLE5	psi-mi:“MI:0915”(physical association)	0.670
TLE5	CRACR2A	psi-mi:“MI:0915”(physical association)	0.670
CARD9	TLE5	psi-mi:“MI:0915”(physical association)	0.670
TLE5	GORASP2	psi-mi:“MI:0915”(physical association)	0.670
MLX	TLE5	psi-mi:“MI:0915”(physical association)	0.670
SMAD3	TLE5	psi-mi:“MI:0915”(physical association)	0.670
TLE5	FSD2	psi-mi:“MI:0915”(physical association)	0.670
BIRC7	TLE5	psi-mi:“MI:0915”(physical association)	0.670
SOX5	TLE5	psi-mi:“MI:0915”(physical association)	0.660
TLE5	VPS37C	psi-mi:“MI:0915”(physical association)	0.560
ARHGAP32	TLE5	psi-mi:“MI:0915”(physical association)	0.560
PRPF31	TLE5	psi-mi:“MI:0915”(physical association)	0.560
TLE5	CCNJL	psi-mi:“MI:0915”(physical association)	0.560
SDCBP	TLE5	psi-mi:“MI:0915”(physical association)	0.560
TLE5	BHLHE40	psi-mi:“MI:0915”(physical association)	0.560
TLE5	TBX3	psi-mi:“MI:0915”(physical association)	0.560
TLE5	ZBTB24	psi-mi:“MI:0915”(physical association)	0.560
FRS3	TLE5	psi-mi:“MI:0915”(physical association)	0.560
EIF4E2	TLE5	psi-mi:“MI:0915”(physical association)	0.560
STK16	TLE5	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (587): AES (Two-hybrid), BCL6 (Two-hybrid), BYSL (Two-hybrid), CRX (Two-hybrid), DDX6 (Two-hybrid), GFAP (Two-hybrid), GOLGA2 (Two-hybrid), GRB2 (Two-hybrid), HNRNPF (Two-hybrid), KIFC3 (Two-hybrid), KRT13 (Two-hybrid), KRT15 (Two-hybrid), KRT31 (Two-hybrid), LMO1 (Two-hybrid), LMO2 (Two-hybrid)

ESM2 similar proteins: A6ZVF4, A7RTB3, B5KFM4, B9EQ30, G5EEG1, O42470, O70437, O94900, P03634, P05549, P09414, P17923, P20486, P21999, P25046, P34428, P34708, P40473, P48437, P55924, P58197, P63002, P63003, P97471, Q08117, Q12857, Q13485, Q196U8, Q1HE26, Q2NKT2, Q32NJ6, Q3TXT3, Q58CN7, Q5ZJ32, Q66652, Q66JW3, Q6FK59, Q75BW4, Q7ZV26, Q7ZY13

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

SIGNOR signaling

4 interactions.

A	Effect	B	Mechanism
PHF12	“up-regulates activity”	TLE5	binding
TLE5	“down-regulates activity”	SIX3	binding
TLE5	“down-regulates activity”	SIX6	binding
TLE5	“down-regulates activity”	ZNF503	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 111 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
mRNA Splicing - Major Pathway	8	6.3×	7e-03

GO biological processes:

GO term	Partners	Fold	FDR
mRNA splicing, via spliceosome	8	7.5×	8e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	9
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1080 predictions. Top by Δscore:

Variant	Effect	Δscore
19:3054036:TGCTG:T	acceptor_gain	1.0000
19:3054038:CTG:C	acceptor_gain	1.0000
19:3054039:TG:T	acceptor_gain	1.0000
19:3054041:C:CC	acceptor_gain	1.0000
19:3054041:C:T	acceptor_loss	1.0000
19:3054042:T:A	acceptor_loss	1.0000
19:3054115:CATA:C	donor_gain	1.0000
19:3054116:ATAC:A	donor_loss	1.0000
19:3054117:TA:T	donor_loss	1.0000
19:3054118:A:AC	donor_gain	1.0000
19:3054118:ACT:A	donor_gain	1.0000
19:3054119:C:CG	donor_gain	1.0000
19:3054119:CT:C	donor_gain	1.0000
19:3054119:CTC:C	donor_gain	1.0000
19:3055659:CTTAC:C	donor_loss	1.0000
19:3055660:TTACC:T	donor_loss	1.0000
19:3055662:A:AC	donor_gain	1.0000
19:3055662:ACCT:A	donor_gain	1.0000
19:3055663:C:CC	donor_gain	1.0000
19:3055663:C:CG	donor_loss	1.0000
19:3055663:CCT:C	donor_gain	1.0000
19:3055663:CCTC:C	donor_gain	1.0000
19:3055725:GCC:G	acceptor_loss	1.0000
19:3055726:CCT:C	acceptor_loss	1.0000
19:3055727:C:CC	acceptor_gain	1.0000
19:3055728:T:G	acceptor_loss	1.0000
19:3055733:C:CT	acceptor_gain	1.0000
19:3056354:GTA:G	acceptor_gain	1.0000
19:3056355:TA:T	acceptor_gain	1.0000
19:3056355:TACTG:T	acceptor_loss	1.0000

AlphaMissense

1287 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:3054160:G:T	A111D	1.000
19:3054161:C:G	A111P	1.000
19:3054181:A:T	V104D	1.000
19:3055674:A:G	L96P	1.000
19:3055674:A:T	L96H	1.000
19:3055698:A:C	I88S	1.000
19:3055698:A:T	I88N	1.000
19:3055707:A:G	L85P	1.000
19:3055709:C:A	R84S	1.000
19:3055709:C:G	R84S	1.000
19:3055710:C:A	R84M	1.000
19:3055710:C:G	R84T	1.000
19:3055726:C:G	A79P	1.000
19:3056313:T:G	Q78P	1.000
19:3056315:T:A	K77N	1.000
19:3056315:T:G	K77N	1.000
19:3056322:A:G	M75T	1.000
19:3056326:C:T	E74K	1.000
19:3056330:G:C	N72K	1.000
19:3056330:G:T	N72K	1.000
19:3056334:A:C	L71W	1.000
19:3056334:A:G	L71S	1.000
19:3056337:C:T	G70D	1.000
19:3056338:C:G	G70R	1.000
19:3056343:G:A	S68F	1.000
19:3056344:A:G	S68P	1.000
19:3056346:A:C	M67R	1.000
19:3056346:A:G	M67T	1.000
19:3056346:A:T	M67K	1.000
19:3056349:T:A	E66V	1.000

dbSNP variants (sampled 300 via entrez): RS1000001244 (19:3053303 G>C), RS1000241771 (19:3057245 T>C), RS1000353466 (19:3062936 C>A,T), RS1000540271 (19:3058677 G>C), RS1000691979 (19:3063331 T>G), RS1000716656 (19:3063070 G>A), RS1001279377 (19:3058414 G>A), RS1001560866 (19:3061390 C>T), RS1001611403 (19:3055207 G>A), RS1001717183 (19:3064573 G>A), RS1001947513 (19:3056031 C>A,T), RS1002565436 (19:3056289 G>A), RS1002579539 (19:3064611 C>G), RS1003220105 (19:3064827 C>G,T), RS1003231729 (19:3060306 G>A)

Disease associations

OMIM: gene MIM:600188 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST009798_49	Asthma	7.000000e-10
GCST90002394_429	Monocyte percentage of white cells	2.000000e-09

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0007989	monocyte percentage of leukocytes

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

28 total (human), top 28 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases expression, affects expression, affects cotreatment, increases expression	9
cobaltous chloride	decreases expression	2
Air Pollutants	decreases expression, increases abundance, increases expression	2
Particulate Matter	decreases expression, increases abundance, increases expression	2
FR900359	increases phosphorylation	1
butyraldehyde	decreases expression	1
4-aminophenylarsenoxide	affects binding, decreases reaction	1
K 7174	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
(+)-JQ1 compound	decreases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Arsenic Trioxide	affects binding, decreases reaction	1
Acetaminophen	increases expression	1
Arsenic	affects expression	1
Benzo(a)pyrene	decreases expression	1
Doxorubicin	decreases expression	1
Hydralazine	affects cotreatment, increases expression	1
Hydrogen Peroxide	affects expression	1
Phenobarbital	affects expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Potassium Dichromate	increases expression	1
Silicon Dioxide	decreases expression	1
Smoke	decreases expression	1
Tretinoin	increases expression	1
Okadaic Acid	decreases expression	1
tert-Butylhydroperoxide	decreases expression	1

Cellosaurus cell lines

4 cell lines: 3 embryonic stem cell, 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_A0A3	SEES3-1V human AES, clone1	Embryonic stem cell	Male
CVCL_A0A4	SEES3-1V human AES, clone2	Embryonic stem cell	Male
CVCL_A0A5	SEES3-1V human AES, clone3	Embryonic stem cell	Male
CVCL_B1E8	Abcam HCT 116 TLE5 KO	Cancer cell line	Male

Clinical trials (associated diseases)

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