KCNE4

Summary

KCNE4 (potassium voltage-gated channel subfamily E regulatory subunit 4, HGNC:6244) is a protein-coding gene on chromosome 2q36.1, encoding Potassium voltage-gated channel subfamily E member 4 (Q8WWG9). Ancillary protein that functions as a regulatory subunit of the voltage-gated potassium (Kv) channel complex composed of pore-forming and potassium-conducting alpha subunits and of regulatory beta subunits.

Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, isk-related subfamily. This member is a type I membrane protein, and a beta subunit that assembles with a potassium channel alpha-subunit to modulate the gating kinetics and enhance stability of the multimeric complex. This gene is prominently expressed in the embryo and in adult uterus.

Source: NCBI Gene 23704 — RefSeq curated summary.

At a glance

• GWAS associations: 20
• Clinical variants (ClinVar): 27 total
• MANE Select transcript: NM_080671

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:6244
Approved symbol	KCNE4
Name	potassium voltage-gated channel subfamily E regulatory subunit 4
Location	2q36.1
Locus type	gene with protein product
Status	Approved
Aliases	MiRP3
Ensembl gene	ENSG00000152049
Ensembl biotype	protein_coding
OMIM	607775
Entrez	23704

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 1 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000281830, ENST00000488477

RefSeq mRNA: 1 — MANE Select: NM_080671 NM_080671

CCDS: CCDS2456

Canonical transcript exons

ENST00000281830 — 2 exons

Exon	Start	End
ENSE00001003096	223052808	223055637
ENSE00001853184	223052190	223052274

Expression profiles

Bgee: expression breadth ubiquitous, 203 present calls, max score 93.95.

FANTOM5 (CAGE): breadth broad, TPM avg 8.0717 / max 604.8287, expressed in 712 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
25639	8.0717	712

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
saphenous vein	UBERON:0007318	93.95	gold quality
gall bladder	UBERON:0002110	88.62	gold quality
tibial artery	UBERON:0007610	87.82	gold quality
popliteal artery	UBERON:0002250	87.80	gold quality
pericardium	UBERON:0002407	87.50	gold quality
smooth muscle tissue	UBERON:0001135	87.02	gold quality
aorta	UBERON:0000947	85.53	gold quality
calcaneal tendon	UBERON:0003701	85.26	gold quality
myometrium	UBERON:0001296	85.16	gold quality
islet of Langerhans	UBERON:0000006	85.06	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	84.28	gold quality
ascending aorta	UBERON:0001496	82.88	gold quality
thoracic aorta	UBERON:0001515	82.69	gold quality
stromal cell of endometrium	CL:0002255	82.50	gold quality
descending thoracic aorta	UBERON:0002345	82.50	gold quality
body of uterus	UBERON:0009853	82.34	gold quality
peritoneum	UBERON:0002358	80.52	gold quality
omental fat pad	UBERON:0010414	80.50	gold quality
vermiform appendix	UBERON:0001154	80.40	gold quality
left coronary artery	UBERON:0001626	80.24	gold quality
left uterine tube	UBERON:0001303	80.13	gold quality
right coronary artery	UBERON:0001625	79.74	gold quality
coronary artery	UBERON:0001621	79.71	gold quality
vena cava	UBERON:0004087	79.29	gold quality
adipose tissue of abdominal region	UBERON:0007808	79.10	gold quality
lower esophagus muscularis layer	UBERON:0035833	78.57	gold quality
right lobe of thyroid gland	UBERON:0001119	78.56	gold quality
lower esophagus	UBERON:0013473	78.56	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	78.28	gold quality
body of stomach	UBERON:0001161	77.95	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-HCAD-10	yes	55.01
E-MTAB-8142	yes	47.29
E-GEOD-137537	yes	6.00
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

133 targeting KCNE4, 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-4673	100.00	66.64	1490
HSA-MIR-3689D	100.00	66.14	1181
HSA-MIR-6851-5P	100.00	65.63	1294
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-4645-5P	99.98	65.81	1284
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-6888-3P	99.97	65.95	1170
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-767-5P	99.95	70.85	993
HSA-MIR-6508-5P	99.92	70.67	2465
HSA-MIR-515-5P	99.92	69.82	2343
HSA-MIR-519E-5P	99.92	69.62	2358
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-106A-5P	99.90	73.94	2683
HSA-MIR-17-5P	99.89	73.83	2665
HSA-MIR-106B-5P	99.88	74.72	2795
HSA-MIR-20A-5P	99.88	74.76	2769

Literature-anchored findings (GeneRIF, showing 23)

• expressed strongly in heart, skeletal muscle, and kidney, less in placenta, lung, and liver, and weakly in brain and blood cells. Electrophysiological study showed that KCNE4 modulates the activation of the KCNQ1 channel. (PMID:12670483)
• KCNE4 beta-subunit has a drastic inhibitory effect on currents generated by Kv1.1 and Kv1.3 potassium channels (PMID:12944270)
• Based upon previous studies and the present results, it is concluded that both hKCNE4 and mKCNE4 have a drastic inhibitory impact on both hKCNQ1 and mKCNQ1 currents. (PMID:15707997)
• KCNE4 E145D polymorphism may be related to atrial fibrillation. (PMID:16563243)
• The non-synonymous single nucleotide polymorphism E145D may be associated with the atrial fibrillation phenotype. (PMID:17016049)
• KCNE4 directly associates with KCNQ1, and can co-associate together with KCNE1 in the same KCNQ1 complex to form a ’triple subunit’ complex (KCNE1-KCNQ1-KCNE4). (PMID:18279388)
• MiRP3 (encoded by the KCNE4 gene) plays a role in modulation of BK-dependent urinary potassium excretion. (PMID:18463315)
• Specific KCNE4 domains responsible for the inhibitory effects on heterologously expressed KCNQ1 were identified. The KCNE4 C-terminus is critical for KCNQ1 modulation and physically interacts with KCNQ1. (PMID:19029186)
• KCNE4 (potassium voltage-gated channel subfamily E member 4), but not KCNE2, functions as an inhibitory Kv1.3 partner in leukocytes. (PMID:19773357)
• MiRP3 modulates Kv4.2 current activation, inactivation and recovery from inactivation. MiRP3 shifts the half-maximal voltage for activation and slows time to peak ~ 100%. (PMID:20498229)
• KCNE4 juxtamembrane region is required for interaction with calmodulin and for functional suppression of KCNQ1. (PMID:21118809)
• the association of the KCNE4 gene variability with allergic rhinitis (PMID:23866632)
• Reported here are previously undiscovered protein-coding regions in exon 1 of hKCNE3 and hKCNE4 that extend their encoded extracellular domains by 44 and 51 residues, which yields full-length proteins of 147 and 221 residues, respectively. (PMID:27162025)
• the tertiary structure of the C-terminal domain of Kv1.3 is necessary and sufficient for Kv1.3- KCNE4 interaction. (PMID:27802162)
• Regulation of human cardiac potassium channels by full-length KCNE3 and KCNE4 has been reported. (PMID:27922120)
• The KCNE1 (rs1805127) appears to an independent risk factor for AF in the Uygur population. And the KCNE4 (rs12621643) was an independent risk factor for AF among both Uygurs and Hans. (PMID:28981946)
• experimental data and the in silico structure suggest that the KCNE4 interaction hides a forward-trafficking motif within Kv1.3 in addition to adding a strong endoplasmic reticulum retention signature to the Kv1.3-KCNE4 complex. (PMID:30969795)
• Calmodulin-dependent KCNE4 dimerization controls membrane targeting. (PMID:34234241)
• KCNE4-dependent functional consequences of Kv1.3-related leukocyte physiology. (PMID:34272451)
• Induction of potassium channel regulator KCNE4 in a submandibular lymph node metastasis model. (PMID:35915077)
• KCNE4 expression is correlated with the pathological characteristics of colorectal cancer patients and associated with the radioresistance of cancer cells. (PMID:36459833)
• Vitamin D Receptor Deficiency Upregulates Pulmonary Artery Kv7 Channel Activity. (PMID:37569725)
• KCNE4 is a crucial host factor for Orf virus infection by mediating viral entry. (PMID:39118175)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	kcne4	ENSDARG00000068257
mus_musculus	Kcne4	ENSMUSG00000047330
rattus_norvegicus	Kcne4	ENSRNOG00000071002

Protein

Protein identifiers

Potassium voltage-gated channel subfamily E member 4 — Q8WWG9 (reviewed: Q8WWG9)

Alternative names: MinK-related peptide 3, Minimum potassium ion channel-related peptide 3, Potassium channel subunit beta MiRP3

All UniProt accessions (1): Q8WWG9

UniProt curated annotations — full annotation on UniProt →

Function. Ancillary protein that functions as a regulatory subunit of the voltage-gated potassium (Kv) channel complex composed of pore-forming and potassium-conducting alpha subunits and of regulatory beta subunits. KCNE4 beta subunit modulates the gating kinetics and enhances stability of the channel complex. Associates with KCNQ1/KVLTQ1 alpha subunit to inhibit potassium currents. May inhibit KCNQ4-mediated potassium currents.

Subunit / interactions. Forms heterooligomers with KCNA3, inhibiting its activity by impairing localization to the cell membrane. The stoichiometry of KCNA3 and KCNE4 in the heterooligomers are 4:1, 4:2, 4:3 or 4:4 respectively. Increasing the number of KCNE4 subunits steadily slows the activation KCNA3 and decreases its abundance at the cell membrane. However, a single subunit of KCNE4 is sufficient for the cooperative enhancement of the inactivating function of the channel. However, a single subunit of KCNE4 is sufficient for the cooperative enhancement of the inactivating function of the channel. Interacts with KCNQ1; impairs KCNQ1 localization in lipid rafts and inhibits voltage-gated potassium channel activity.

Subcellular location. Membrane.

Tissue specificity. Predominantly expressed in embryo and adult uterus. Low expression found in kidney, small intestine, lung and heart. Detected in kidney, thymus, and uterus (at protein level).

Similarity. Belongs to the potassium channel KCNE family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8WWG9-1	1, hKCNE4L	yes
Q8WWG9-3	2, hKCNE4S

RefSeq proteins (1): NP_542402* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000369	K_chnl_KCNE	Family

Pfam: PF02060

UniProt features (16 total): sequence conflict 3, compositionally biased region 3, topological domain 2, sequence variant 2, region of interest 2, chain 1, splice variant 1, transmembrane region 1, glycosylation site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8WWG9-F1	57.86	0.10

Functional residue map

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

Glycosylation sites (1): 9

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-5576890	Phase 3 - rapid repolarisation
R-HSA-5576893	Phase 2 - plateau phase
R-HSA-397014	Muscle contraction
R-HSA-5576891	Cardiac conduction

MSigDB gene sets: 187 (showing top): GOBP_POTASSIUM_ION_TRANSPORT, GOBP_CIRCULATORY_SYSTEM_PROCESS, MODULE_255, MODULE_317, LIEN_BREAST_CARCINOMA_METAPLASTIC, CAGCTG_AP4_Q5, GOBP_MONOATOMIC_CATION_TRANSPORT, PAX2_01, GOBP_REGULATION_OF_CARDIAC_MUSCLE_CELL_MEMBRANE_REPOLARIZATION, GOBP_MUSCLE_CONTRACTION, SMID_BREAST_CANCER_LUMINAL_B_UP, GOBP_REGULATION_OF_HEART_RATE, GOBP_CARDIAC_MUSCLE_CELL_CONTRACTION, GOBP_ACTIN_MEDIATED_CELL_CONTRACTION, GOBP_VENTRICULAR_CARDIAC_MUSCLE_CELL_ACTION_POTENTIAL

GO Biological Process (10): regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307), ventricular cardiac muscle cell action potential (GO:0086005), membrane repolarization during action potential (GO:0086011), regulation of heart rate by cardiac conduction (GO:0086091), potassium ion export across plasma membrane (GO:0097623), membrane repolarization during ventricular cardiac muscle cell action potential (GO:0098915), monoatomic ion transport (GO:0006811), potassium ion transport (GO:0006813), monoatomic ion transmembrane transport (GO:0034220), potassium ion transmembrane transport (GO:0071805)

GO Molecular Function (8): voltage-gated potassium channel activity (GO:0005249), potassium channel regulator activity (GO:0015459), potassium channel inhibitor activity (GO:0019870), transmembrane transporter binding (GO:0044325), delayed rectifier potassium channel activity (GO:0005251), potassium channel activity (GO:0005267), protein binding (GO:0005515), voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)

GO Cellular Component (4): voltage-gated potassium channel complex (GO:0008076), apical plasma membrane (GO:0016324), membrane (GO:0016020), monoatomic ion channel complex (GO:0034702)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Cardiac conduction	2
Muscle contraction	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
potassium channel activity	3
ventricular cardiac muscle cell membrane repolarization	2
regulation of cardiac muscle cell membrane repolarization	1
cardiac muscle cell action potential involved in contraction	1
action potential	1
membrane repolarization	1
regulation of heart rate	1
cardiac conduction	1
potassium ion transmembrane transport	1
export across plasma membrane	1
ventricular cardiac muscle cell action potential	1
membrane repolarization during cardiac muscle cell action potential	1
transport	1
metal ion transport	1
monoatomic ion transport	1
transmembrane transport	1
potassium ion transport	1
monoatomic cation transmembrane transport	1
voltage-gated monoatomic cation channel activity	1
ion channel regulator activity	1
ion channel inhibitor activity	1
potassium channel regulator activity	1
protein binding	1
voltage-gated potassium channel activity	1
monoatomic cation channel activity	1
potassium ion transmembrane transporter activity	1
binding	1
voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization	1
membrane repolarization during ventricular cardiac muscle cell action potential	1
potassium channel complex	1
plasma membrane protein complex	1
apical part of cell	1
plasma membrane region	1
cellular anatomical structure	1
transmembrane transporter complex	1

Protein interactions and networks

STRING

642 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KCNE4	KCNQ4	P56696	966
KCNE4	KCNE3	Q9Y6H6	951
KCNE4	KCNE1	P15382	914
KCNE4	KCNQ5	Q9NR82	893
KCNE4	KCNE2	Q9Y6J6	887
KCNE4	KCNQ1	P51787	856
KCNE4	KCNC4	Q03721	837
KCNE4	KCNE5	Q9UJ90	794
KCNE4	SCN1B	Q07699	736
KCNE4	KCNH2	Q12809	724
KCNE4	GPD1L	Q8N335	723
KCNE4	CACNB2	Q08289	719
KCNE4	SCN3B	Q9NY72	715
KCNE4	KCND3	Q9UK17	706
KCNE4	IRX5	P78411	688

IntAct

13 interactions, top by confidence:

A	B	Type	Score
CAMLG	KCNE4	psi-mi:“MI:0915”(physical association)	0.560
GET3	KCNE4	psi-mi:“MI:0915”(physical association)	0.560
TRDN	KCNE4	psi-mi:“MI:0915”(physical association)	0.560
KCNE4	TCF7L2	psi-mi:“MI:0915”(physical association)	0.490
KCNE4	TNFRSF10B	psi-mi:“MI:0914”(association)	0.350
KCNE4	CAMLG	psi-mi:“MI:0915”(physical association)	0.000
GET3	KCNE4	psi-mi:“MI:0915”(physical association)	0.000
KCNE4	TRDN	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (39): KCNE4 (Affinity Capture-Western), TCF7L2 (Two-hybrid), CAMLG (Two-hybrid), TRDN (Two-hybrid), ASNA1 (Two-hybrid), RHOBTB3 (Affinity Capture-MS), PTPRF (Affinity Capture-MS), SLC30A3 (Affinity Capture-MS), RAB29 (Affinity Capture-MS), ATP13A1 (Affinity Capture-MS), RHBDF2 (Affinity Capture-MS), KCNN4 (Affinity Capture-MS), CNNM4 (Affinity Capture-MS), PLEKHH3 (Affinity Capture-MS), TNFRSF10B (Affinity Capture-MS)

ESM2 similar proteins: A0A1B0GU29, A6NLX4, A6QNY1, A9CBA0, B7ZWI3, O14669, O88472, P14784, P16297, P25918, P26896, Q0VFL4, Q13651, Q32M26, Q38J84, Q38J85, Q3SYS8, Q58CT8, Q5BK39, Q5EAA5, Q5HZE8, Q5NCP0, Q5RCL0, Q64322, Q68DV7, Q6AXS2, Q6AXU5, Q6NUJ2, Q6UWV7, Q86UW2, Q8BHB3, Q8BLR5, Q8BSU2, Q8C353, Q8C708, Q8K1T1, Q8MII8, Q8N6P7, Q8NET5, Q8R182

Diamond homologs: P15382, P15383, P23299, P63160, P63161, Q28705, Q5R8Q2, Q60409, Q8WWG9, Q9BDR0, Q9D808, Q9TUH9, Q9WTW3, Q9XSP1, Q9Y6J6

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	21
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

83 predictions. Top by Δscore:

Variant	Effect	Δscore
2:223052271:CTTGG:C	donor_loss	1.0000
2:223052272:TTGGT:T	donor_loss	1.0000
2:223052274:GGTA:G	donor_loss	1.0000
2:223052275:G:GG	donor_gain	1.0000
2:223052275:GTAA:G	donor_loss	1.0000
2:223052276:TAA:T	donor_loss	1.0000
2:223052803:CCCA:C	acceptor_loss	1.0000
2:223052804:CCA:C	acceptor_loss	1.0000
2:223052805:CAGC:C	acceptor_loss	1.0000
2:223052806:A:AG	acceptor_gain	1.0000
2:223052807:G:GA	acceptor_gain	1.0000
2:223052807:GC:G	acceptor_gain	1.0000
2:223052807:GCC:G	acceptor_gain	1.0000
2:223052807:GCCC:G	acceptor_gain	1.0000
2:223052270:CCTTG:C	donor_gain	0.9900
2:223052271:CTTG:C	donor_gain	0.9900
2:223052273:TG:T	donor_gain	0.9900
2:223052274:GG:G	donor_gain	0.9900
2:223052807:GCCCC:G	acceptor_gain	0.9900
2:223052272:TTG:T	donor_gain	0.9800
2:223052807:G:T	acceptor_gain	0.9700
2:223052806:A:T	acceptor_gain	0.9600
2:223052803:CCCAG:C	acceptor_gain	0.9500
2:223052804:CCAGC:C	acceptor_gain	0.9500
2:223052805:CAGCC:C	acceptor_gain	0.9500
2:223052277:AA:A	donor_loss	0.9300
2:223052279:G:GG	donor_gain	0.8800
2:223052278:A:AG	donor_gain	0.8700
2:223052785:CTAAC:C	acceptor_loss	0.8700
2:223052802:CCCCA:C	acceptor_gain	0.8000

AlphaMissense

1446 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:223052970:G:A	G98D	0.994
2:223052985:G:A	G103E	0.993
2:223052969:G:C	G98R	0.992
2:223052955:T:A	V93D	0.991
2:223052963:T:C	F96L	0.990
2:223052965:C:A	F96L	0.990
2:223052965:C:G	F96L	0.990
2:223053206:A:C	S177R	0.990
2:223053208:C:A	S177R	0.990
2:223053208:C:G	S177R	0.990
2:223052975:T:C	F100L	0.989
2:223052977:C:A	F100L	0.989
2:223052977:C:G	F100L	0.989
2:223052984:G:A	G103R	0.989
2:223052984:G:C	G103R	0.989
2:223053013:G:C	K112N	0.987
2:223053013:G:T	K112N	0.987
2:223052958:T:G	M94R	0.985
2:223052952:T:A	V92D	0.984
2:223052976:T:C	F100S	0.984
2:223053200:A:C	S175R	0.984
2:223053202:C:A	S175R	0.984
2:223053202:C:G	S175R	0.984
2:223052958:T:A	M94K	0.982
2:223053243:T:C	I189T	0.980
2:223053243:T:A	I189N	0.976
2:223053173:T:C	C166R	0.975
2:223052997:G:A	G107D	0.973
2:223052966:T:G	Y97D	0.971
2:223053070:G:C	W131C	0.971

dbSNP variants (sampled 300 via entrez): RS1000677361 (2:223055934 T>A), RS1001869033 (2:223055892 T>A), RS1002253333 (2:223054124 T>C), RS1002387602 (2:223055834 G>A,T), RS1003011452 (2:223050747 A>G,T), RS1003505392 (2:223055570 T>C), RS1003653631 (2:223054459 C>A,T), RS1003916021 (2:223051877 G>A,T), RS1003924563 (2:223054162 C>A,T), RS1004641384 (2:223053663 G>C), RS1005584169 (2:223050534 C>T), RS1005668695 (2:223051932 C>T), RS1006257545 (2:223050712 T>G), RS1006312300 (2:223052143 C>T), RS1006805662 (2:223050214 C>T)

Disease associations

OMIM: gene MIM:607775 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

20 associations (top):

Study	Trait	p-value
GCST000464_14	Acute lymphoblastic leukemia (childhood)	3.000000e-06
GCST000838_7	Waist circumference	8.000000e-07
GCST000840_4	Body mass index	4.000000e-06
GCST004599_287	Mean platelet volume	9.000000e-14
GCST006186_4	Systolic blood pressure x smoking status (current vs non-current) interaction (1df test)	4.000000e-06
GCST006193_92	Diastolic blood pressure x smoking status (current vs non-current) interaction (2df test)	1.000000e-07
GCST006195_83	Systolic blood pressure x smoking status (current vs non-current) interaction (2df test)	2.000000e-09
GCST007006_3	Logical memory (delayed recall) in normal cognition	1.000000e-07
GCST008152_60	Weight	2.000000e-06
GCST011116_2	Coronary artery disease in type 1 diabetes	2.000000e-07
GCST011685_1	Fasting plasma glucose	7.000000e-07
GCST012303_6	Recurrent major depressive disorder x sex interaction	6.000000e-06
GCST90000025_875	Appendicular lean mass	8.000000e-40
GCST90002388_176	Lymphocyte count	1.000000e-16
GCST90002389_5	Lymphocyte percentage of white cells	5.000000e-14
GCST90002395_359	Mean platelet volume	1.000000e-21
GCST90002397_461	Mean spheric corpuscular volume	8.000000e-15
GCST90002399_128	Neutrophil percentage of white cells	3.000000e-12
GCST90002401_426	Platelet distribution width	3.000000e-42
GCST90002405_5	Reticulocyte count	5.000000e-11

EFO canonical traits (13, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index
EFO:0006335	systolic blood pressure
EFO:0006527	smoking status measurement
EFO:0006336	diastolic blood pressure
EFO:0004874	memory performance
EFO:0004338	body weight
EFO:0008343	sex interaction measurement
EFO:0004980	appendicular lean mass
EFO:0004587	lymphocyte count
EFO:0007993	lymphocyte percentage of leukocytes
EFO:0007990	neutrophil percentage of leukocytes
EFO:0007984	platelet component distribution width
EFO:0007986	reticulocyte count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

23 total (human), top 23 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Estradiol	affects cotreatment, increases expression	2
Progesterone	increases expression, affects cotreatment	2
aristolochic acid I	increases expression	1
bisphenol A	increases expression	1
S-(1,2-dichlorovinyl)cysteine	decreases expression	1
CGP 52608	affects binding, increases reaction	1
2,2’,4,4’,5-brominated diphenyl ether	increases expression	1
quinocetone	decreases expression	1
MT19c compound	decreases expression	1
Acetaminophen	increases expression	1
Benzo(a)pyrene	affects methylation	1
Doxorubicin	increases expression	1
Lead	affects expression	1
Nickel	increases expression	1
Plant Extracts	increases expression	1
Polychlorinated Biphenyls	affects expression	1
Tetrachlorodibenzodioxin	affects cotreatment, increases expression	1
Dronabinol	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Triclosan	increases expression	1
Urethane	decreases expression	1
Valproic Acid	decreases methylation	1
8-Bromo Cyclic Adenosine Monophosphate	increases expression	1

Clinical trials (associated diseases)

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