ENTREP2

Summary

ENTREP2 (endosomal transmembrane epsin interactor 2, HGNC:29075) is a protein-coding gene on chromosome 15q13.1, encoding Protein ENTREP2 (O60320).

Predicted to be located in membrane.

Source: NCBI Gene 23359 — automated summary from GO annotations (Alliance of Genome Resources).

At a glance

• GWAS associations: 6
• Clinical variants (ClinVar): 300 total — 4 pathogenic
• GTEx eGene: eQTL in 26 tissues, sQTL in 2 (q < 0.05)
• Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 1.12 (unconstrained)
• MANE Select transcript: NM_015307
• Notable: 300 clinical variants but no curated precision-oncology (CIViC) evidence yet

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29075
Approved symbol	ENTREP2
Name	endosomal transmembrane epsin interactor 2
Location	15q13.1
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0574, TMEM228
Ensembl gene	ENSG00000104059
Ensembl biotype	protein_coding
OMIM	620052
Entrez	23359

Gene structure

Transcript identifiers

Ensembl transcripts: 16 — 12 protein_coding, 2 nonsense_mediated_decay, 1 retained_intron, 1 protein_coding_CDS_not_defined

MANE Select: ENST00000261275

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 1, TSL 4: 2, TSL 5: 1

ENST00000261275, ENST00000560021, ENST00000560050, ENST00000560082, ENST00000910616, ENST00000918352, ENST00000918353, ENST00000918354, ENST00000918355, ENST00001089494, ENST00001089495, ENST00001089496, ENST00001089497, ENST00001115247, ENST00001115248, ENST00001132486

RefSeq mRNA: 5 — MANE Select: NM_015307 NM_001387214, NM_001387215, NM_001387216, NM_001387217, NM_015307

CCDS: CCDS45198

Canonical transcript exons

ENST00000261275 — 11 exons

Exon	Start	End
ENSE00000672900	29120252	29123655
ENSE00001784749	29570505	29570979
ENSE00003465657	29252368	29252478
ENSE00003532547	29126267	29126491
ENSE00003533998	29381775	29381831
ENSE00003545805	29137034	29137194
ENSE00003583872	29128789	29128864
ENSE00003588965	29151734	29151841
ENSE00003641870	29124687	29124761
ENSE00003644491	29136366	29136501
ENSE00003789592	29196430	29196564

Expression profiles

Bgee: expression breadth ubiquitous, 124 present calls, max score 86.02.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.3159 / max 29.1266, expressed in 150 samples.

Highest expression (Bgee): primordial germ cell in gonad, Ammon’s horn, primary visual cortex, anterior cingulate cortex, temporal lobe.

Genetic regulation across tissues (GTEx eQTL / sQTL)

ENTREP2 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 26 tissues and its splicing (sQTL) in 2 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

showing 20 of 28 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Esophagus Muscularis	eqtl	1.2e-16	+0.48	15:29552772:A:G
Thyroid	eqtl	5.4e-14	+0.28	15:29424841:A:G
Heart Atrial Appendage	eqtl	3.2e-13	-0.38	15:29543988:G:A
Pancreas	eqtl	1.5e-12	-0.41	15:29596474:A:G
Esophagus Mucosa	eqtl	5.0e-09	+0.31	15:29552772:A:G
Colon Sigmoid	eqtl	1.8e-08	-0.73	15:29395560:C:T
Adrenal Gland	eqtl	1.1e-07	+0.50	15:29558243:A:T
Nerve Tibial	eqtl	5.9e-05	+0.22	15:29554772:GT:G
Adipose Subcutaneous	eqtl	8.0e-05	+0.23	15:29547128:C:A
Brain Cortex	eqtl	1.7e-04	+0.50	15:28874242:G:C
Spleen	eqtl	3.9e-04	-0.38	15:29443200:T:C
Artery Tibial	eqtl	7.1e-04	+0.21	15:29532534:A:G
Artery Aorta	eqtl	8.0e-04	-0.23	15:29569260:C:T
Skin Sun Exposed Lower leg	eqtl	8.9e-04	+0.17	15:29555634:T:C
Colon Transverse	eqtl	9.3e-04	-0.29	15:29396381:G:T
Colon Transverse	sqtl	1.2e-03	-0.42	15:29192512:C:G
Minor Salivary Gland	eqtl	1.5e-03	-0.40	15:29569260:C:T
Cells Cultured fibroblasts	eqtl	1.6e-03	-0.37	15:29171508:G:C
Skin Not Sun Exposed Suprapubic	eqtl	2.1e-03	+0.60	15:29618313:T:C
Breast Mammary Tissue	eqtl	5.0e-03	+0.26	15:29548434:A:G

FANTOM5 promoters

2 alternative TSS:

Promoter ID	TPM avg	Samples expressed
149069	0.2705	139
149066	0.0455	9

Top tissues by expression

showing 100 of 132 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	86.02	gold quality
Ammon’s horn	UBERON:0001954	85.21	gold quality
primary visual cortex	UBERON:0002436	84.68	gold quality
anterior cingulate cortex	UBERON:0009835	84.21	gold quality
temporal lobe	UBERON:0001871	83.97	gold quality
amygdala	UBERON:0001876	83.91	gold quality
superior frontal gyrus	UBERON:0002661	83.12	gold quality
prefrontal cortex	UBERON:0000451	82.63	gold quality
frontal cortex	UBERON:0001870	82.49	gold quality
cerebral cortex	UBERON:0000956	82.40	gold quality
right frontal lobe	UBERON:0002810	82.38	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	80.95	gold quality
Brodmann (1909) area 9	UBERON:0013540	79.62	gold quality
putamen	UBERON:0001874	79.49	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	78.59	gold quality
caudate nucleus	UBERON:0001873	78.15	gold quality
cortical plate	UBERON:0005343	77.32	gold quality
nucleus accumbens	UBERON:0001882	77.08	gold quality
brain	UBERON:0000955	76.10	gold quality
hypothalamus	UBERON:0001898	74.56	gold quality
right hemisphere of cerebellum	UBERON:0014890	74.21	gold quality
cerebellum	UBERON:0002037	73.49	gold quality
cerebellar cortex	UBERON:0002129	73.41	gold quality
cerebellar hemisphere	UBERON:0002245	73.39	gold quality
mucosa of transverse colon	UBERON:0004991	72.82	gold quality
body of pancreas	UBERON:0001150	72.06	gold quality
pancreas	UBERON:0001264	71.55	gold quality
islet of Langerhans	UBERON:0000006	70.11	gold quality
substantia nigra	UBERON:0002038	69.85	gold quality
transverse colon	UBERON:0001157	68.32	gold quality
rectum	UBERON:0001052	67.46	gold quality
right lobe of thyroid gland	UBERON:0001119	66.21	gold quality
thyroid gland	UBERON:0002046	65.79	gold quality
left lobe of thyroid gland	UBERON:0001120	65.11	gold quality
colon	UBERON:0001155	64.74	gold quality
muscle layer of sigmoid colon	UBERON:0035805	63.12	gold quality
ascending aorta	UBERON:0001496	63.06	gold quality
thoracic aorta	UBERON:0001515	62.79	gold quality
duodenum	UBERON:0002114	62.61	gold quality
adult mammalian kidney	UBERON:0000082	62.45	gold quality
intestine	UBERON:0000160	62.27	gold quality
fallopian tube	UBERON:0003889	61.49	gold quality
right uterine tube	UBERON:0001302	61.31	gold quality
kidney	UBERON:0002113	60.86	gold quality
ganglionic eminence	UBERON:0004023	60.79	gold quality
right coronary artery	UBERON:0001625	60.60	gold quality
right lung	UBERON:0002167	59.68	gold quality
testis	UBERON:0000473	59.21	gold quality
cortex of kidney	UBERON:0001225	59.05	gold quality
urinary bladder	UBERON:0001255	58.75	gold quality
upper lobe of left lung	UBERON:0008952	58.73	gold quality
stromal cell of endometrium	CL:0002255	58.52	gold quality
left testis	UBERON:0004533	58.48	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	57.97	gold quality
lung	UBERON:0002048	57.95	gold quality
metanephros cortex	UBERON:0010533	57.83	gold quality
ventricular zone	UBERON:0003053	57.68	gold quality
left coronary artery	UBERON:0001626	57.18	gold quality
small intestine	UBERON:0002108	56.92	gold quality
right testis	UBERON:0004534	56.87	gold quality
descending thoracic aorta	UBERON:0002345	56.72	gold quality
small intestine Peyer’s patch	UBERON:0003454	56.15	gold quality
colonic epithelium	UBERON:0000397	55.59	gold quality
right atrium auricular region	UBERON:0006631	55.20	gold quality
left uterine tube	UBERON:0001303	54.48	gold quality
corpus callosum	UBERON:0002336	54.30	gold quality
material anatomical entity	UBERON:0000465	53.99	gold quality
multicellular organism	UBERON:0000468	53.99	gold quality
right adrenal gland cortex	UBERON:0035827	53.73	gold quality
omental fat pad	UBERON:0010414	53.63	gold quality
lymph node	UBERON:0000029	52.54	gold quality
right adrenal gland	UBERON:0001233	52.38	gold quality
fundus of stomach	UBERON:0001160	52.35	gold quality
tibial nerve	UBERON:0001323	52.13	gold quality
left adrenal gland cortex	UBERON:0035825	51.48	gold quality
left adrenal gland	UBERON:0001234	50.88	gold quality
adrenal gland	UBERON:0002369	50.73	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	50.41	gold quality
gall bladder	UBERON:0002110	50.01	gold quality
saliva-secreting gland	UBERON:0001044	49.76	gold quality
minor salivary gland	UBERON:0001830	49.56	gold quality
smooth muscle tissue	UBERON:0001135	48.70	gold quality
tibial artery	UBERON:0007610	48.54	gold quality
popliteal artery	UBERON:0002250	48.44	gold quality
bone marrow cell	CL:0002092	48.33	gold quality
placenta	UBERON:0001987	47.47	gold quality
ectocervix	UBERON:0012249	47.38	gold quality
heart	UBERON:0000948	46.85	gold quality
stomach	UBERON:0000945	46.83	gold quality
prostate gland	UBERON:0002367	46.43	gold quality
body of stomach	UBERON:0001161	46.24	gold quality
adipose tissue	UBERON:0001013	46.04	gold quality
mucosa of stomach	UBERON:0001199	45.73	gold quality
tonsil	UBERON:0002372	45.20	gold quality
myometrium	UBERON:0001296	45.14	gold quality
uterine cervix	UBERON:0000002	45.10	gold quality
vermiform appendix	UBERON:0001154	45.03	gold quality
lower esophagus muscularis layer	UBERON:0035833	45.01	gold quality
lower esophagus	UBERON:0013473	44.98	gold quality
pituitary gland	UBERON:0000007	44.69	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-CURD-119	yes	19.40
E-ANND-3	no	0.67

HPA expression

RNA tissue specificity: Tissue enriched

53 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM
Putamen	tissue	32.0
Basal ganglia	tissue	31.1
Cerebral cortex	tissue	20.8
Occipital cortex	tissue	20.8
Somatosensory cortex	tissue	20.6
Temporal cortex	tissue	20.1
Prefrontal cortex	tissue	19.9
Frontal cortex	tissue	19.0
Hippocampal formation	tissue	18.3
Entorhinal cortex	tissue	18.1
Motor cortex	tissue	17.2
Insular cortex	tissue	17.2
Ventral forebrain	tissue	16.8
Retrosplenial and cingulate cortex	tissue	15.8
Amygdala	tissue	14.1
Retrosplenial cortex	tissue	13.2
Caudate putamen	tissue	12.7
Septum	tissue	8.0
Olfactory bulb	tissue	6.2
Postcentral gyrus	tissue	6.1
Substantia nigra	tissue	5.7
Thalamus	tissue	5.4
Pons	tissue	5.3
Midbrain	tissue	5.2
Hippocampus	tissue	5.2
Cerebellum	tissue	4.7
Hypothalamus	tissue	4.5
Superior colliculi	tissue	4.3
Medulla oblongata	tissue	3.9
Corpus callosum	tissue	3.4
Periaqueductal gray	tissue	3.4
Spinal cord	tissue	3.1
Choroid plexus	tissue	2.4
Nucleus accumbens	tissue	1.8
Locus coeruleus	tissue	1.2
Colon	tissue	0.7
Small intestine	tissue	0.5
Rectum	tissue	0.4
Parathyroid gland	tissue	0.4
Pituitary gland	tissue	0.3
Testis	tissue	0.3
Pancreas	tissue	0.3
Vagina	tissue	0.2
Thyroid gland	tissue	0.2
Lung	tissue	0.2
Kidney	tissue	0.2
Fallopian tube	tissue	0.2
Retina	tissue	0.1
Salivary gland	tissue	0.1
Endometrium 1	tissue	0.1
Spleen	tissue	0.1
Adrenal gland	tissue	0.1
Tonsil	tissue	0.1

Brain sub-regions (HPA Brain Atlas): detected in 189; highest nTPM — Subiculum (18.3), Ventral hippocampus (11.8), Dorsal hippocampus (10.5), Hippocampus, CA1 (7.1), Hippocampus, CA3 (6.2).

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

Targeting ENTREP2 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

showing 30 of 118 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-MIR-98-5P	99.98	72.33	1787
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-LET-7D-5P	99.96	71.76	1632
HSA-MIR-4458	99.96	71.64	1650
HSA-MIR-570-3P	99.96	72.41	4910
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-497-5P	99.92	71.83	2674
HSA-MIR-106A-5P	99.90	73.94	2683
HSA-MIR-15A-5P	99.90	72.80	2787
HSA-MIR-15B-5P	99.90	72.78	2798
HSA-MIR-16-5P	99.90	72.80	2780
HSA-MIR-195-5P	99.90	72.81	2805

Functional genomics

gnomAD constraint: pLI 3e-09, LOEUF 1.12, missense Z -0.562 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000261275 — one region, missense o/e 0.95.

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	fam189a1	ENSDARG00000053380
mus_musculus	Entrep2	ENSMUSG00000030518
rattus_norvegicus	Entrep2	ENSRNOG00000023496

Paralogs (2): ENTREP1 (ENSG00000135063), ENTREP3 (ENSG00000160767)

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

Symbol	Type	Entrez
NSMCE3	protein-coding	56160
TJP1	protein-coding	7082
APBA2	protein-coding	321
GOLGA6L7	protein-coding	728310
LCIIAR	ncRNA	100130111

Protein

Protein identifiers

Protein ENTREP2 — O60320 (reviewed: O60320)

Alternative names: Endosomal transmembrane epsin interactor 2, Transmembrane protein 228

All UniProt accessions (2): O60320, H0YKM1

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

Similarity. Belongs to the ENTREP family.

Isoforms (2)

UniProt ID	Names	Canonical?
O60320-1	1	yes
O60320-2	2

RefSeq proteins (5): NP_001374143, NP_001374144, NP_001374145, NP_001374146, NP_056122* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007237	CD20-like_TM	Domain
IPR030431	ENTREP1-3	Family

Pfam: PF04103, PF27697

UniProt features (15 total): sequence variant 5, transmembrane region 4, compositionally biased region 3, chain 1, region of interest 1, splice variant 1

Structure

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O60320-F1	59.09	0.09

Human Protein Atlas

Protein class: Transporters, Transporter channels and pores, Predicted membrane proteins, Predicted intracellular proteins, UniProt - Evidence at transcript level

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): nucleoplasm; aggresome; vesicles

Antibody reliability (HPA): IH uncertain · IF approved

Function

Pathways and Gene Ontology

Reactome pathways

0 curated (TAS) of 0; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

MSigDB gene sets: 71 (showing top): chr15q13, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_UP, BASAKI_YBX1_TARGETS_DN, MODULE_207, BMI1_DN_MEL18_DN.V1_UP, CBX7_TARGET_GENES, HSD17B8_TARGET_GENES, IGLV5_37_TARGET_GENES, LHX9_TARGET_GENES, MIR570_3P, MIR106B_5P, MIR20A_5P, MIR106A_5P, MIR17_5P, MIR20B_5P

GO Cellular Component (1): membrane (GO:0016020)

GO top-level categories

1 GO namespaces:

Category	Terms
cellular anatomical structure	1

Protein interactions and networks

STRING

showing 15 of 516 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ENTREP2	DRC11L	A6NCM1	548
ENTREP2	GBX1	Q14549	461
ENTREP2	RNF212	Q495C1	449
ENTREP2	N4BP1	O75113	447
ENTREP2	APBA2	Q99767	387
ENTREP2	TEX22	C9J3V5	379
ENTREP2	TMEM145	Q8NBT3	367
ENTREP2	LY6G5C	Q5SRR4	357
ENTREP2	HEATR9	A2RTY3	356
ENTREP2	CT62	P0C5K7	354
ENTREP2	STUM	Q69YW2	352
ENTREP2	TMEM179	Q6ZVK1	348
ENTREP2	IQSEC3	Q9UPP2	347
ENTREP2	AMER3	Q8N944	346
ENTREP2	FAM81A	Q8TBF8	346

Disease & clinical

Genetic variants

Variant evidence for ENTREP2: 300 ClinVar records (4 pathogenic / likely pathogenic); 6 GWAS associations. Per-variant detail is on Sugi Variant.

ClinVar

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

Classification	Count (floor)
Pathogenic	4
Likely pathogenic	0
Uncertain significance	179
Likely benign	100
Benign	6

Top pathogenic / likely-pathogenic (4)

Showing all 4 pathogenic / likely-pathogenic ClinVar records, ranked by ClinVar review status (expert panel → multiple submitters → single submitter), then by number of submitting labs.

Variant ID	HGVS	Classification	Review	Submitters
267796	NM_138704.4(NSMCE3):c.626C>T (p.Pro209Leu)	Pathogenic	criteria provided, single submitter	2
57008	GRCh38/hg38 15q13.1-13.3(chr15:28314197-32343758)x1	Pathogenic	criteria provided, single submitter	1
1703231	Single allele	Pathogenic	criteria provided, single submitter	1
146702	GRCh38/hg38 15q11.2-14(chr15:23319714-38089582)x1	Pathogenic	no assertion criteria provided	1

Per-variant reference — Sugi Variant

Explore ENTREP2’s pathogenic and likely-pathogenic variants individually — each with its ClinVar classification and conditions, applied ACMG criteria (ClinGen expert panel, where curated), the calibrated in-silico predictors (AlphaMissense, REVEL, SaProt, conservation), gnomAD frequency, and the predictor-disagreement QC signal — on Sugi Variant.

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 36 predictions of 2,568):

Position(s)	Effect	Δscore	Sites
15:29128787–29128788	donor_loss	1.0000	4
15:29181894	donor_gain	1.0000
15:29252366–29252367	donor_loss	1.0000	5
15:29381832–29381833	acceptor_loss	1.0000	6
15:29124235	donor_gain	0.9900
15:29124306	donor_gain	0.9900
15:29126265–29126266	donor_loss	0.9900	5
15:29126492–29126493	acceptor_loss	0.9900	6
15:29128788	donor_loss	0.9900
15:29136502–29136503	acceptor_loss	0.9900	6

AlphaMissense

947 missense substitutions predicted likely pathogenic (of 3,467 scored), across 213 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:

Residue	Likely-pathogenic substitutions	Mean am_pathogenicity	Max am_pathogenicity
M105	9	0.891	0.999
F96	8	0.989	0.999
F51	8	0.979	0.996
F68	8	0.969	0.998
F72	8	0.955	0.992
S50	8	0.949	1.000
F240	8	0.939	0.997
F132	8	0.925	0.994
F178	8	0.914	0.985
M40	8	0.883	0.999
N117	8	0.881	0.982
F95	8	0.863	0.967
H64	8	0.815	0.927
W69	7	0.994	1.000
C138	7	0.994	0.998
C140	7	0.994	0.998
C166	7	0.994	0.997
C127	7	0.993	0.997
W85	7	0.987	0.997
C141	7	0.978	0.990

HPA cancer prognostics

RNA cancer specificity: Cancer enriched (Kidney Renal Papillary Cell Carcinoma)

Disease associations

OMIM: gene MIM:620052 | disease phenotypes: MIM:608636, MIM:617241

GenCC curated gene-disease

Mondo (2): 15q11q13 microduplication syndrome (MONDO:0012081), lung disease, immunodeficiency, and chromosome breakage syndrome; (MONDO:0014984)

Orphanet (1): 15q11q13 microduplication syndrome (Orphanet:238446)

GWAS associations

6 associations:

Study	Trait	p-value
GCST008516_7	Skin pigmentation (conditioned on rs1426654 and rs35397)	6e-10
GCST012048_33	Triglyceride levels	2e-9
GCST012490_182	Femur bone mineral density x serum urate levels interaction	2e-9
GCST009507_5	Triglyceride levels	2e-7
GCST001376_1	Life threatening arrhythmia	5e-6
GCST001762_895	Obesity-related traits	7e-6

EFO canonical traits (from GWAS)

3 canonical traits:

EFO ID	Trait name
EFO:0004269	cardiac arrhythmia
EFO:0004530	triglyceride measurement
EFO:0004531	urate measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

CTD chemical–gene interactions

16 total (human), top 16 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	increases expression, decreases methylation	2
Valproic Acid	affects expression, increases methylation	2
trichostatin A	decreases expression	1
sodium arsenite	affects methylation	1
pentanal	increases expression	1
bisphenol S	increases methylation	1
Resveratrol	affects cotreatment, decreases expression	1
Sunitinib	decreases expression	1
Fulvestrant	increases methylation	1
Arsenic	affects methylation	1
Benzo(a)pyrene	affects methylation	1
Carbamazepine	affects expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Silicon Dioxide	decreases expression	1
Smoke	decreases expression	1
Aflatoxin B1	increases methylation	1

Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.

2 trials:

NCT	Phase	Status	Title
NCT06041906	Not specified	ENROLLING_BY_INVITATION	International Registry of Congenital Portosystemic Shunt (IRCPSS)
NCT07314814	Not specified	NOT_YET_RECRUITING	Genetic Hallmarks of Patients With Congenital Portosystemic Shunts and Portopulmonary Hypertension