EPN2

Summary

EPN2 (epsin 2, HGNC:18639) is a protein-coding gene on chromosome 17p11.2, encoding Epsin-2 (O95208). Plays a role in the formation of clathrin-coated invaginations and endocytosis.

This gene encodes a protein which interacts with clathrin and adaptor-related protein complex 2, alpha 1 subunit. The protein is found in a brain-derived clathrin-coated vesicle fraction and localizes to the peri-Golgi region and the cell periphery. The protein is thought to be involved in clathrin-mediated endocytosis. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms.

Source: NCBI Gene 22905 — RefSeq curated summary.

At a glance

• GWAS associations: 7
• Clinical variants (ClinVar): 84 total — 1 pathogenic
• MANE Select transcript: NM_014964

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18639
Approved symbol	EPN2
Name	epsin 2
Location	17p11.2
Locus type	gene with protein product
Status	Approved
Aliases	KIAA1065, EHB21
Ensembl gene	ENSG00000072134
Ensembl biotype	protein_coding
OMIM	607263
Entrez	22905

Gene structure

Transcript identifiers

Ensembl transcripts: 56 — 45 protein_coding, 8 protein_coding_CDS_not_defined, 2 retained_intron, 1 nonsense_mediated_decay

ENST00000314728, ENST00000347697, ENST00000395618, ENST00000395620, ENST00000395626, ENST00000395628, ENST00000441293, ENST00000494192, ENST00000495155, ENST00000571254, ENST00000572627, ENST00000575595, ENST00000577195, ENST00000577244, ENST00000577692, ENST00000580579, ENST00000581024, ENST00000582015, ENST00000582234, ENST00000582659, ENST00000582969, ENST00000583197, ENST00000584150, ENST00000584633, ENST00000584707, ENST00000584954, ENST00000585097, ENST00000898661, ENST00000898662, ENST00000898663, ENST00000898664, ENST00000898665, ENST00000898666, ENST00000898667, ENST00000898668, ENST00000898669, ENST00000920530, ENST00000920531, ENST00000920532, ENST00000920533, ENST00000920534, ENST00000966896, ENST00000966897, ENST00000966898, ENST00000966899, ENST00000966900, ENST00000966901, ENST00000966902, ENST00000966903, ENST00000966904, ENST00000966905, ENST00000966906, ENST00000966907, ENST00000966908, ENST00000966909, ENST00000966910

RefSeq mRNA: 3 — MANE Select: NM_014964 NM_001102664, NM_014964, NM_148921

CCDS: CCDS11203, CCDS11204, CCDS42277

Canonical transcript exons

ENST00000314728 — 11 exons

Exon	Start	End
ENSE00000695121	19285620	19285790
ENSE00001233894	19333956	19336715
ENSE00002701471	19237366	19237531
ENSE00003484246	19328711	19328887
ENSE00003558876	19309885	19309997
ENSE00003563346	19313105	19313279
ENSE00003588019	19312052	19312144
ENSE00003652155	19329561	19329647
ENSE00003692037	19282950	19283714
ENSE00003759473	19281955	19282077
ENSE00003791496	19331853	19332068

Expression profiles

Bgee: expression breadth ubiquitous, 285 present calls, max score 96.31.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1003 / max 6.5065, expressed in 38 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
159832	0.1003	38

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
colonic epithelium	UBERON:0000397	96.31	gold quality
corpus callosum	UBERON:0002336	95.28	gold quality
amygdala	UBERON:0001876	94.94	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	94.79	gold quality
lower esophagus mucosa	UBERON:0035834	94.15	gold quality
skin of abdomen	UBERON:0001416	94.11	gold quality
skin of leg	UBERON:0001511	93.98	gold quality
spinal cord	UBERON:0002240	93.94	gold quality
sural nerve	UBERON:0015488	93.94	gold quality
ectocervix	UBERON:0012249	93.10	gold quality
prefrontal cortex	UBERON:0000451	93.06	gold quality
cingulate cortex	UBERON:0003027	93.04	gold quality
anterior cingulate cortex	UBERON:0009835	92.96	gold quality
Ammon’s horn	UBERON:0001954	92.89	gold quality
inferior vagus X ganglion	UBERON:0005363	92.80	gold quality
right frontal lobe	UBERON:0002810	92.37	gold quality
zone of skin	UBERON:0000014	92.30	gold quality
esophagus mucosa	UBERON:0002469	92.11	gold quality
caudate nucleus	UBERON:0001873	92.09	gold quality
putamen	UBERON:0001874	92.09	gold quality
right atrium auricular region	UBERON:0006631	92.04	gold quality
nucleus accumbens	UBERON:0001882	91.99	gold quality
right hemisphere of cerebellum	UBERON:0014890	91.84	gold quality
Brodmann (1909) area 9	UBERON:0013540	91.74	gold quality
hypothalamus	UBERON:0001898	91.66	gold quality
cerebellar hemisphere	UBERON:0002245	91.60	gold quality
cerebellar cortex	UBERON:0002129	91.59	gold quality
temporal lobe	UBERON:0001871	91.49	gold quality
body of uterus	UBERON:0009853	91.34	gold quality
cardiac atrium	UBERON:0002081	91.32	gold quality

Single-cell (SCXA)

Detected in 6 experiment(s), a significant marker in 5.

Experiment	Marker?	Max mean expression
E-HCAD-35	yes	74.20
E-GEOD-84465	yes	28.17
E-HCAD-25	yes	24.02
E-ANND-3	yes	7.94
E-GEOD-93593	yes	4.07
E-MTAB-7249	no	72.52

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

110 targeting EPN2, 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-5692A	100.00	74.40	6850
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-511-3P	99.99	68.85	1467
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-485-3P	99.98	70.68	1585
HSA-MIR-539-3P	99.98	70.74	1616
HSA-MIR-433-3P	99.98	69.37	1203
HSA-MIR-34C-5P	99.97	70.45	1577
HSA-MIR-449B-5P	99.97	70.26	1580
HSA-MIR-548AN	99.97	70.91	2817
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-9-3P	99.96	70.88	2068
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-185-3P	99.95	67.01	1743
HSA-MIR-3910	99.95	71.13	2227
HSA-MIR-101-3P	99.94	75.03	2230
HSA-MIR-144-3P	99.94	73.98	2698

Literature-anchored findings (GeneRIF, showing 2)

• Epsins are required for Dishevelled stability and Wnt signalling activation in colon cancer development. (PMID:25871009)
• EPN2 mRNA is a direct target of miR-1224. (PMID:28717225)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	epn2	ENSDARG00000008377
mus_musculus	Epn2	ENSMUSG00000001036
rattus_norvegicus	Epn2	ENSRNOG00000060550
drosophila_melanogaster	lqf	FBGN0028582
caenorhabditis_elegans		WBGENE00001329

Paralogs (5): EPN3 (ENSG00000049283), EPN1 (ENSG00000063245), CLINT1 (ENSG00000113282), MYCBPAP (ENSG00000136449), ENTHD1 (ENSG00000176177)

Protein

Protein identifiers

Epsin-2 — O95208 (reviewed: O95208)

Alternative names: EPS-15-interacting protein 2

All UniProt accessions (14): O95208, E9PBC1, F6PQP6, I3L2B2, I3L2H1, I3L356, J3KSA6, J3KSC7, J3KSF8, J3KSR0, J3KTF6, J3QKL8, J3QLN2, J3QQJ8

UniProt curated annotations — full annotation on UniProt →

Function. Plays a role in the formation of clathrin-coated invaginations and endocytosis.

Subunit / interactions. Binds EPS15. Interacts with ITSN1. Binds AP-2 and clathrin. Interacts with UBQLN2.

Subcellular location. Cytoplasm. Cytoplasmic vesicle. Clathrin-coated vesicle.

Tissue specificity. Highest expression is found in brain. Detected at lower levels in lung and liver.

Post-translational modifications. Ubiquitinated.

Domain organisation. The NPF repeat domain is involved in EPS15 binding. The DPW repeat domain is involved in AP-2 and clathrin binding.

Similarity. Belongs to the epsin family.

Isoforms (4)

UniProt ID	Names	Canonical?
O95208-1	1, 2b	yes
O95208-2	2, 2a
O95208-3	3
O95208-5	4

RefSeq proteins (3): NP_001096134, NP_055779, NP_683723 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003903	UIM_dom	Conserved_site
IPR008942	ENTH_VHS	Homologous_superfamily
IPR013809	ENTH	Domain

Pfam: PF01417

UniProt features (48 total): modified residue 11, repeat 9, region of interest 6, binding site 6, compositionally biased region 4, domain 3, splice variant 3, sequence variant 3, sequence conflict 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O95208-F1	60.50	0.26

Functional residue map

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

Ligand- & substrate-binding residues (6): 8; 11; 25; 30; 63; 73

Post-translational modifications (11): 170, 173, 192, 195, 486, 508, 570, 192, 195, 153, 156

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-8856825	Cargo recognition for clathrin-mediated endocytosis
R-HSA-8856828	Clathrin-mediated endocytosis

MSigDB gene sets: 197 (showing top): GSE45365_NK_CELL_VS_CD11B_DC_UP, GOBP_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS, MYOGENIN_Q6, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_POSITIVE_REGULATION_OF_NOTCH_SIGNALING_PATHWAY, GOBP_VASCULAR_ENDOTHELIAL_GROWTH_FACTOR_RECEPTOR_SIGNALING_PATHWAY, JOHANSSON_GLIOMAGENESIS_BY_PDGFB_UP, GOBP_VESICLE_MEDIATED_TRANSPORT, REACTOME_MEMBRANE_TRAFFICKING, CAGCTG_AP4_Q5, MODULE_66, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS, GOBP_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS, GOBP_SPROUTING_ANGIOGENESIS

GO Biological Process (4): endocytosis (GO:0006897), negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948), positive regulation of Notch signaling pathway (GO:0045747), negative regulation of sprouting angiogenesis (GO:1903671)

GO Molecular Function (5): phospholipid binding (GO:0005543), clathrin binding (GO:0030276), cadherin binding (GO:0045296), protein binding (GO:0005515), lipid binding (GO:0008289)

GO Cellular Component (7): endosome (GO:0005768), cytosol (GO:0005829), plasma membrane (GO:0005886), clathrin vesicle coat (GO:0030125), cytoplasm (GO:0005737), clathrin-coated vesicle (GO:0030136), cytoplasmic vesicle (GO:0031410)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Clathrin-mediated endocytosis	1
Membrane Trafficking	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	2
cytoplasm	2
cellular anatomical structure	2
vesicle budding from membrane	1
membrane invagination	1
vesicle-mediated transport	1
import into cell	1
negative regulation of signal transduction	1
regulation of vascular endothelial growth factor receptor signaling pathway	1
vascular endothelial growth factor receptor signaling pathway	1
negative regulation of cellular response to growth factor stimulus	1
Notch signaling pathway	1
regulation of Notch signaling pathway	1
positive regulation of signal transduction	1
sprouting angiogenesis	1
negative regulation of angiogenesis	1
regulation of sprouting angiogenesis	1
lipid binding	1
protein binding	1
cell adhesion molecule binding	1
endomembrane system	1
cytoplasmic vesicle	1
membrane	1
cell periphery	1
clathrin coat	1
vesicle coat	1
clathrin-coated vesicle membrane	1
intracellular anatomical structure	1
coated vesicle	1
intracellular vesicle	1

Protein interactions and networks

STRING

1361 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
EPN2	EPS15	P42566	997
EPN2	SNAP91	O60641	979
EPN2	ITSN1	Q15811	979
EPN2	HIP1R	O75146	965
EPN2	ITSN2	Q9NZM3	958
EPN2	CLTC	Q00610	946
EPN2	CLTCL1	P53675	944
EPN2	FCHO1	O14526	873
EPN2	AMPH	P49418	873
EPN2	PICALM	Q13492	873
EPN2	BIN1	O00499	840
EPN2	AP2B1	P21851	821
EPN2	EPS15L1	Q9UBC2	818
EPN2	CLTB	P09497	806
EPN2	SYNJ2	O15056	787
EPN2	SYNJ1	O43426	787

IntAct

49 interactions, top by confidence:

A	B	Type	Score
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
YWHAH	PLEKHG3	psi-mi:“MI:0914”(association)	0.610
YWHAQ	IGLC7	psi-mi:“MI:0914”(association)	0.530
EPHA2	GOLIM4	psi-mi:“MI:0914”(association)	0.530
EPN2	SYNGAP1	psi-mi:“MI:0915”(physical association)	0.500
NRAS	ESYT2	psi-mi:“MI:2364”(proximity)	0.480
YWHAB	PLEKHG3	psi-mi:“MI:0914”(association)	0.480
YWHAQ	PLEKHG3	psi-mi:“MI:0914”(association)	0.480
EPN2	ENTREP1	psi-mi:“MI:0915”(physical association)	0.370
GTSE1	HIP1	psi-mi:“MI:0914”(association)	0.350
ESR1	ESYT2	psi-mi:“MI:0914”(association)	0.350
YWHAB	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
YWHAG	C1orf226	psi-mi:“MI:0914”(association)	0.350
YWHAZ	SPEG	psi-mi:“MI:0914”(association)	0.350
SYNGAP1	POM121C	psi-mi:“MI:0914”(association)	0.350
ARHGAP18	CLTB	psi-mi:“MI:0914”(association)	0.350
CLTA	CLTB	psi-mi:“MI:0914”(association)	0.350
EPN2	NSD2	psi-mi:“MI:0914”(association)	0.350
YWHAB	FOXO6	psi-mi:“MI:0914”(association)	0.350
YWHAG	FOXO6	psi-mi:“MI:0914”(association)	0.350
YWHAQ	FOXO6	psi-mi:“MI:0914”(association)	0.350
YWHAH	FOXO6	psi-mi:“MI:0914”(association)	0.350
YWHAZ	HECTD4	psi-mi:“MI:0914”(association)	0.350
EPN3	MID1	psi-mi:“MI:0914”(association)	0.350
RBM47	IGF2BP3	psi-mi:“MI:0914”(association)	0.350
EPN3	PHGDH	psi-mi:“MI:0914”(association)	0.350
CREB3L2	PLEKHG3	psi-mi:“MI:0914”(association)	0.350

BioGRID (127): EPN2 (Affinity Capture-Western), RALBP1 (Affinity Capture-Western), EPN2 (Affinity Capture-MS), EPN2 (Proximity Label-MS), EPN2 (Affinity Capture-MS), EPN2 (Proximity Label-MS), EPN2 (Affinity Capture-MS), EPN2 (Reconstituted Complex), EPN2 (Affinity Capture-MS), EPN2 (Two-hybrid), EPN2 (Proximity Label-MS), EPN2 (Affinity Capture-MS), EPN2 (Proximity Label-MS), EPN2 (Proximity Label-MS), EPN2 (Proximity Label-MS)

ESM2 similar proteins: A4QNR8, F4IUY8, O14964, O74555, O75061, O88339, O95208, P16371, P49848, P83038, P97496, Q0V8S0, Q27974, Q32NW2, Q5BFH3, Q5SNN4, Q62311, Q63801, Q641G3, Q659C4, Q6GLQ4, Q6NZC7, Q6PGA0, Q6PKG0, Q6Z358, Q6ZQ58, Q80TZ3, Q80VP1, Q8CBY3, Q8CH18, Q8CHU3, Q8INR6, Q8IQ05, Q8L860, Q8TEH3, Q8TFZ1, Q8VDM6, Q91857, Q92783, Q95YE2

Diamond homologs: A7Z035, O74423, O88339, O95208, P47160, P78813, Q05785, Q12518, Q14677, Q4V882, Q54EH1, Q67YI9, Q80VP1, Q8CHU3, Q8IYW4, Q8VY07, Q91W69, Q93YP4, Q99KN9, Q9H201, Q9Y6I3, Q9Z1Z3, Q07872

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 55 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
Activation of BAD and translocation to mitochondria	5	88.5×	2e-07
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	5	78.1×	3e-07
SARS-CoV-1 targets host intracellular signalling and regulatory pathways	5	78.1×	3e-07
Activation of BH3-only proteins	5	57.7×	1e-06
RHO GTPases activate PKNs	5	36.9×	7e-06
Intrinsic Pathway for Apoptosis	5	34.0×	8e-06
Apoptosis	6	23.4×	7e-06
Transcriptional and post-translational regulation of MITF-M expression and activity	5	20.8×	4e-05

GO biological processes:

GO term	Partners	Fold	FDR
protein targeting	5	37.4×	1e-04
intracellular protein localization	6	12.8×	2e-03
endocytosis	6	11.7×	2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	67
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
980115	GRCh37/hg19 17p11.2(chr17:16763370-20395611)x1	Pathogenic

SpliceAI

3074 predictions. Top by Δscore:

Variant	Effect	Δscore
17:19283710:TGGCT:T	donor_gain	1.0000
17:19283711:GGCT:G	donor_gain	1.0000
17:19283711:GGCTG:G	donor_gain	1.0000
17:19283712:GCT:G	donor_gain	1.0000
17:19283712:GCTG:G	donor_gain	1.0000
17:19283715:G:GG	donor_gain	1.0000
17:19309883:A:AG	acceptor_gain	1.0000
17:19309884:G:GG	acceptor_gain	1.0000
17:19309884:GCC:G	acceptor_gain	1.0000
17:19309884:GCCA:G	acceptor_gain	1.0000
17:19309884:GCCAC:G	acceptor_gain	1.0000
17:19309996:AG:A	donor_loss	1.0000
17:19309997:GGTC:G	donor_loss	1.0000
17:19309999:T:A	donor_loss	1.0000
17:19312048:A:AG	acceptor_gain	1.0000
17:19312048:ACAGG:A	acceptor_loss	1.0000
17:19312050:A:AG	acceptor_gain	1.0000
17:19312051:G:GA	acceptor_loss	1.0000
17:19312051:G:GT	acceptor_gain	1.0000
17:19312051:GGAA:G	acceptor_gain	1.0000
17:19312142:GAG:G	donor_gain	1.0000
17:19312143:AGGT:A	donor_loss	1.0000
17:19312146:T:A	donor_loss	1.0000
17:19331851:A:AG	acceptor_gain	1.0000
17:19331852:G:GG	acceptor_gain	1.0000
17:19331852:GCC:G	acceptor_gain	1.0000
17:19331852:GCCGA:G	acceptor_gain	1.0000
17:19237527:CAGAG:C	donor_loss	0.9900
17:19237528:AGAGG:A	donor_loss	0.9900
17:19237529:GAG:G	donor_gain	0.9900

AlphaMissense

4126 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:19283190:T:A	V24D	1.000
17:19283193:G:C	R25P	1.000
17:19283198:G:C	A27P	1.000
17:19283199:C:A	A27D	1.000
17:19283204:T:C	S29P	1.000
17:19283216:T:A	W33R	1.000
17:19283216:T:C	W33R	1.000
17:19283218:G:C	W33C	1.000
17:19283218:G:T	W33C	1.000
17:19283219:G:C	G34R	1.000
17:19283219:G:T	G34C	1.000
17:19283220:G:A	G34D	1.000
17:19283249:G:C	A44P	1.000
17:19283310:T:C	L64P	1.000
17:19283330:T:A	W71R	1.000
17:19283330:T:C	W71R	1.000
17:19283332:G:C	W71C	1.000
17:19283332:G:T	W71C	1.000
17:19283345:A:C	K76Q	1.000
17:19283345:A:G	K76E	1.000
17:19283347:G:C	K76N	1.000
17:19283347:G:T	K76N	1.000
17:19283348:G:C	A77P	1.000
17:19283352:T:C	L78P	1.000
17:19283358:T:C	L80P	1.000
17:19283370:T:C	L84P	1.000
17:19283381:G:C	G88R	1.000
17:19283382:G:A	G88D	1.000
17:19283436:T:C	L106P	1.000
17:19283444:T:C	F109L	1.000

dbSNP variants (sampled 300 via entrez): RS1000002424 (17:19239469 T>A), RS1000108619 (17:19277077 G>A), RS1000110679 (17:19236920 C>A), RS1000111881 (17:19290176 C>T), RS1000123211 (17:19289782 A>G), RS1000141828 (17:19245843 T>C), RS1000168341 (17:19330467 T>G), RS1000193265 (17:19262432 C>A), RS1000210586 (17:19244183 G>A), RS1000225826 (17:19262218 C>T), RS1000291946 (17:19264507 C>T), RS1000294172 (17:19237323 GCGGGACCT>G), RS1000347277 (17:19312757 G>A,T), RS1000373516 (17:19312548 A>G), RS1000405074 (17:19268346 C>T)

Disease associations

OMIM: gene MIM:607263 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

7 associations (top):

Study	Trait	p-value
GCST006630_77	Diastolic blood pressure	6.000000e-14
GCST008595_211	Cognitive ability, years of educational attainment or schizophrenia (pleiotropy)	2.000000e-08
GCST010101_16	White matter hyperintensities	8.000000e-09
GCST011946_7	White matter hyperintensity volume	7.000000e-07
GCST011947_58	White matter hyperintensity volume	4.000000e-07
GCST011949_25	White matter hyperintensity volume (adjusted for hypertension)	2.000000e-06
GCST011950_32	White matter hyperintensity volume (adjusted for hypertension)	1.000000e-06

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0006336	diastolic blood pressure
EFO:0004337	intelligence
EFO:0004784	self reported educational attainment
EFO:0005665	white matter hyperintensity measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

30 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression, increases methylation	5
cobaltous chloride	decreases expression	2
Benzo(a)pyrene	affects methylation, decreases methylation	2
FR900359	affects phosphorylation	1
triphenyl phosphate	affects expression	1
bisphenol A	affects cotreatment, increases methylation	1
beta-lapachone	increases expression, decreases expression	1
benzo(e)pyrene	increases methylation	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
aflatoxin B2	increases methylation	1
beta-methylcholine	affects expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
bisphenol S	affects cotreatment, decreases methylation	1
Resveratrol	affects cotreatment, decreases expression	1
Fulvestrant	affects cotreatment, increases methylation, decreases methylation	1
Carbamazepine	affects expression	1
Diclofenac	affects expression	1
Doxorubicin	decreases expression	1
Hydralazine	increases expression, affects cotreatment	1
Ivermectin	decreases expression	1
Methapyrilene	increases methylation	1
Plant Extracts	affects cotreatment, decreases expression	1
Selenium	increases expression	1
Dihydrotestosterone	increases expression	1
Vanadates	decreases expression	1
Vitamin E	increases expression	1
Lactic Acid	decreases expression	1
Vitamin K 3	affects expression	1

Clinical trials (associated diseases)

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