EPS15L1

Summary

EPS15L1 (epidermal growth factor receptor pathway substrate 15 like 1, HGNC:24634) is a protein-coding gene on chromosome 19p13.11, encoding Epidermal growth factor receptor substrate 15-like 1 (Q9UBC2). Seems to be a constitutive component of clathrin-coated pits that is required for receptor-mediated endocytosis.

Enables cadherin binding activity. Predicted to be involved in endosomal transport and synaptic vesicle endocytosis. Located in membrane.

Source: NCBI Gene 58513 — RefSeq curated summary.

At a glance

• Gene–disease (curated): split hand-foot malformation (Supportive, GenCC)
• GWAS associations: 23
• Clinical variants (ClinVar): 133 total
• Phenotypes (HPO): 8
• MANE Select transcript: NM_001258374

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24634
Approved symbol	EPS15L1
Name	epidermal growth factor receptor pathway substrate 15 like 1
Location	19p13.11
Locus type	gene with protein product
Status	Approved
Aliases	eps15R
Ensembl gene	ENSG00000127527
Ensembl biotype	protein_coding
OMIM	616826
Entrez	58513

Gene structure

Transcript identifiers

Ensembl transcripts: 39 — 32 protein_coding, 4 nonsense_mediated_decay, 3 retained_intron

ENST00000248070, ENST00000455140, ENST00000535753, ENST00000592031, ENST00000593760, ENST00000594851, ENST00000594975, ENST00000595845, ENST00000596037, ENST00000596151, ENST00000597559, ENST00000597937, ENST00000599790, ENST00000602009, ENST00000602022, ENST00000602151, ENST00000714540, ENST00000906746, ENST00000906747, ENST00000906748, ENST00000906749, ENST00000906750, ENST00000906751, ENST00000906752, ENST00000906753, ENST00000906754, ENST00000906755, ENST00000906756, ENST00000929403, ENST00000929404, ENST00000945602, ENST00000945603, ENST00000945604, ENST00000945605, ENST00000945606, ENST00000945607, ENST00000945608, ENST00000945609, ENST00000945610

RefSeq mRNA: 4 — MANE Select: NM_001258374 NM_001258374, NM_001258375, NM_001258376, NM_021235

CCDS: CCDS32944, CCDS58653, CCDS58654, CCDS59363

Canonical transcript exons

ENST00000455140 — 24 exons

Exon	Start	End
ENSE00003470502	16361779	16361984
ENSE00003471330	16417552	16417637
ENSE00003476111	16442178	16442219
ENSE00003477006	16428702	16428761
ENSE00003477266	16403733	16403930
ENSE00003499125	16393951	16394001
ENSE00003509940	16440862	16440909
ENSE00003518407	16395344	16395467
ENSE00003519461	16402321	16402485
ENSE00003523279	16404588	16404749
ENSE00003527973	16434365	16434490
ENSE00003551660	16385129	16385211
ENSE00003557468	16377122	16377254
ENSE00003560738	16413773	16413845
ENSE00003564260	16441892	16441981
ENSE00003605323	16392304	16392440
ENSE00003647888	16436937	16436999
ENSE00003649468	16421319	16421476
ENSE00003659713	16417948	16418104
ENSE00003664715	16437770	16437865
ENSE00003690990	16425083	16425316
ENSE00003691173	16386171	16386231
ENSE00004024469	16471913	16471970
ENSE00004024470	16355247	16355851

Expression profiles

Bgee: expression breadth ubiquitous, 258 present calls, max score 94.67.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 21.9274 / max 228.4551, expressed in 1806 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
179804	21.0625	1806
179805	0.8649	419

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
gastrocnemius	UBERON:0001388	94.67	gold quality
apex of heart	UBERON:0002098	94.36	gold quality
hindlimb stylopod muscle	UBERON:0004252	94.27	gold quality
muscle of leg	UBERON:0001383	93.75	gold quality
right atrium auricular region	UBERON:0006631	93.59	gold quality
right hemisphere of cerebellum	UBERON:0014890	92.66	gold quality
cerebellar hemisphere	UBERON:0002245	92.47	gold quality
lower esophagus mucosa	UBERON:0035834	92.29	gold quality
cerebellar cortex	UBERON:0002129	92.23	gold quality
heart left ventricle	UBERON:0002084	91.85	gold quality
cardiac atrium	UBERON:0002081	91.36	gold quality
cardiac ventricle	UBERON:0002082	91.22	gold quality
sural nerve	UBERON:0015488	91.07	gold quality
cortical plate	UBERON:0005343	90.80	gold quality
adenohypophysis	UBERON:0002196	90.67	gold quality
right frontal lobe	UBERON:0002810	90.37	gold quality
cerebellum	UBERON:0002037	90.31	gold quality
skin of leg	UBERON:0001511	90.23	gold quality
heart	UBERON:0000948	89.75	gold quality
ectocervix	UBERON:0012249	89.64	gold quality
anterior cingulate cortex	UBERON:0009835	89.61	gold quality
ganglionic eminence	UBERON:0004023	89.55	gold quality
cingulate cortex	UBERON:0003027	89.54	gold quality
skin of abdomen	UBERON:0001416	89.44	gold quality
endocervix	UBERON:0000458	89.40	gold quality
granulocyte	CL:0000094	89.30	gold quality
left testis	UBERON:0004533	88.81	gold quality
buccal mucosa cell	CL:0002336	88.80	gold quality
pituitary gland	UBERON:0000007	88.74	gold quality
esophagus mucosa	UBERON:0002469	88.67	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.42

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): HNF4A

miRNA regulators (miRDB)

14 targeting EPS15L1, 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-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-34C-5P	99.97	70.45	1577
HSA-MIR-449B-5P	99.97	70.26	1580
HSA-MIR-6499-3P	99.90	66.38	1212
HSA-MIR-7845-5P	99.88	64.88	771
HSA-MIR-6764-5P	99.75	67.89	2304
HSA-MIR-3975	99.62	65.97	697
HSA-MIR-1915-3P	99.58	66.79	1988
HSA-MIR-6799-5P	99.14	65.72	2093
HSA-MIR-4795-5P	99.11	66.90	876
HSA-MIR-600	97.07	66.73	1259
HSA-MIR-4745-3P	83.50	60.58	126

Literature-anchored findings (GeneRIF, showing 1)

• This is the first biallelic variant identified in the EPS15L1 gene underlying SHFM. Our findings report the first direct involvement of EPS15L1 gene in the development of human limbs. (PMID:29023680)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	eps15l1a	ENSDARG00000042670
danio_rerio		ENSDARG00000100700
mus_musculus	Eps15l1	ENSMUSG00000006276
rattus_norvegicus	Eps15l1	ENSRNOG00000013502

Paralogs (10): EHD3 (ENSG00000013016), EHD2 (ENSG00000024422), EPS15 (ENSG00000085832), EHD4 (ENSG00000103966), EHD1 (ENSG00000110047), REPS1 (ENSG00000135597), REPS2 (ENSG00000169891), SRL (ENSG00000185739), ITSN2 (ENSG00000198399), ITSN1 (ENSG00000205726)

Protein

Protein identifiers

Epidermal growth factor receptor substrate 15-like 1 — Q9UBC2 (reviewed: Q9UBC2)

Alternative names: Eps15-related protein

All UniProt accessions (10): Q9UBC2, A0AAQ5BI61, K7EJR2, M0QX30, M0QY01, M0R165, M0R1V5, M0R2S2, M0R330, M0R3I1

UniProt curated annotations — full annotation on UniProt →

Function. Seems to be a constitutive component of clathrin-coated pits that is required for receptor-mediated endocytosis. Involved in endocytosis of integrin beta-1 (ITGB1) and transferrin receptor (TFR); internalization of ITGB1 as DAB2-dependent cargo but not TFR seems to require association with DAB2.

Subunit / interactions. Interacts with EPS15, AGFG1/HRB and AGFG2/HRBL. Associates with the clathrin-associated adapter protein complex 2 (AP-2). Interacts with FCHO1. Interacts with FCHO2. Interacts (via EH domains) with DAB2. Interacts with UBQLN1 (via ubiquitin-like domain). Interacts with CAVIN3 (via leucine-zipper domain). Interacts with REPS2.

Subcellular location. Cell membrane. Nucleus. Membrane. Coated pit.

Post-translational modifications. Phosphorylated on tyrosine residues by EGFR.

Isoforms (4)

UniProt ID	Names	Canonical?
Q9UBC2-1	1	yes
Q9UBC2-2	2
Q9UBC2-3	3
Q9UBC2-4	4

RefSeq proteins (4): NP_001245303, NP_001245304, NP_001245305, NP_067058 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000261	EH_dom	Domain
IPR002048	EF_hand_dom	Domain
IPR011992	EF-hand-dom_pair	Homologous_superfamily
IPR018159	Spectrin/alpha-actinin	Repeat
IPR018247	EF_Hand_1_Ca_BS	Binding_site

Pfam: PF12763

UniProt features (72 total): modified residue 25, repeat 15, domain 7, compositionally biased region 7, region of interest 5, binding site 5, splice variant 4, initiator methionine 1, chain 1, coiled-coil region 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UBC2-F1	67.02	0.20

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 (5): 172; 174; 176; 178; 183

Post-translational modifications (25): 2, 74, 107, 108, 229, 244, 253, 255, 259, 362, 366, 371, 374, 377, 560, 564, 577, 593, 666, 672 …

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-182971	EGFR downregulation
R-HSA-8856825	Cargo recognition for clathrin-mediated endocytosis
R-HSA-8856828	Clathrin-mediated endocytosis

MSigDB gene sets: 180 (showing top): TGCGCANK_UNKNOWN, MODULE_255, GOZGIT_ESR1_TARGETS_DN, MODULE_317, GOBP_VESICLE_MEDIATED_TRANSPORT, REACTOME_MEMBRANE_TRAFFICKING, GOBP_SYNAPTIC_VESICLE_RECYCLING, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, BYSTRYKH_HEMATOPOIESIS_STEM_CELL_AND_BRAIN_QTL_TRANS, GCM_NF2, GOBP_IMPORT_INTO_CELL, GOBP_ENDOCYTOSIS, HUANG_DASATINIB_RESISTANCE_DN, MODULE_356, DEURIG_T_CELL_PROLYMPHOCYTIC_LEUKEMIA_UP

GO Biological Process (3): endocytosis (GO:0006897), endosomal transport (GO:0016197), synaptic vesicle endocytosis (GO:0048488)

GO Molecular Function (5): calcium ion binding (GO:0005509), protein-macromolecule adaptor activity (GO:0030674), cadherin binding (GO:0045296), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (8): nucleus (GO:0005634), cytoplasm (GO:0005737), cytosol (GO:0005829), plasma membrane (GO:0005886), membrane (GO:0016020), clathrin coat of coated pit (GO:0030132), presynapse (GO:0098793), clathrin-coated pit (GO:0005905)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Signaling by EGFR	1
Clathrin-mediated endocytosis	1
Membrane Trafficking	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
vesicle-mediated transport	2
membrane	2
vesicle budding from membrane	1
membrane invagination	1
import into cell	1
intracellular transport	1
synaptic vesicle recycling	1
presynaptic endocytosis	1
metal ion binding	1
protein binding	1
molecular adaptor activity	1
cell adhesion molecule binding	1
binding	1
cation binding	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
cytoplasm	1
cell periphery	1
clathrin-coated pit	1
clathrin coat	1
plasma membrane protein complex	1
synapse	1
endomembrane system	1

Protein interactions and networks

STRING

1787 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
EPS15L1	STON2	Q8WXE9	928
EPS15L1	FCHO1	O14526	926
EPS15L1	NUMBL	Q9Y6R0	921
EPS15L1	ITSN2	Q9NZM3	894
EPS15L1	AGFG2	O95081	829
EPS15L1	EPN1	Q9Y6I3	819
EPS15L1	EPN2	O95208	818
EPS15L1	EPN3	Q9H201	795
EPS15L1	FCHO2	Q0JRZ9	765
EPS15L1	NUMB	P49757	692
EPS15L1	EPS15	P42566	688
EPS15L1	CLTCL1	P53675	676
EPS15L1	CLTC	Q00610	666
EPS15L1	ITSN1	Q15811	642
EPS15L1	SYNJ1	O43426	638

IntAct

122 interactions, top by confidence:

A	B	Type	Score
SPC25	NDC80	psi-mi:“MI:0914”(association)	0.940
MED4	MED19	psi-mi:“MI:2364”(proximity)	0.900
PLK1	SPAG9	psi-mi:“MI:0914”(association)	0.790
DNM2	DNM1	psi-mi:“MI:0914”(association)	0.740
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
CAVIN3	CAV1	psi-mi:“MI:0914”(association)	0.650
AP2S1	AP2A2	psi-mi:“MI:0914”(association)	0.640
ITSN1	AP2S1	psi-mi:“MI:0914”(association)	0.640
NCKIPSD	GEMIN2	psi-mi:“MI:0914”(association)	0.640
EPS15L1	STON2	psi-mi:“MI:0407”(direct interaction)	0.590
TRAPPC2	EPS15L1	psi-mi:“MI:0915”(physical association)	0.560
EPS15L1	GNG5	psi-mi:“MI:0915”(physical association)	0.560
EPS15L1	TRAPPC2	psi-mi:“MI:0915”(physical association)	0.560
ITSN2	EPS15L1	psi-mi:“MI:0915”(physical association)	0.560
GRB2	SH3PXD2B	psi-mi:“MI:0914”(association)	0.530
AP2B1	AP2A2	psi-mi:“MI:0914”(association)	0.530
EPS15	AP2A2	psi-mi:“MI:0914”(association)	0.530
NECAP2	AP2A2	psi-mi:“MI:0914”(association)	0.530
EPS15L1	NDC80	psi-mi:“MI:0914”(association)	0.530
CDR2	IGSF3	psi-mi:“MI:0914”(association)	0.530
NDC80	HIP1R	psi-mi:“MI:0914”(association)	0.530

BioGRID (202): EPS15L1 (Two-hybrid), EPS15L1 (Two-hybrid), EPS15L1 (Affinity Capture-RNA), EPS15L1 (Affinity Capture-RNA), AGFG2 (Phenotypic Enhancement), EPS15L1 (Affinity Capture-MS), EPS15L1 (Affinity Capture-MS), EPS15L1 (Affinity Capture-MS), EPS15L1 (Affinity Capture-MS), EPS15L1 (Co-fractionation), EPS15L1 (Co-fractionation), EPS15L1 (Proximity Label-MS), EPS15L1 (Affinity Capture-MS), EPS15L1 (Affinity Capture-MS), EPS15L1 (Affinity Capture-MS)

ESM2 similar proteins: A4QNR8, A7Z035, O14964, O55012, O60641, O75061, O75553, O80910, O88339, O95081, O95208, P42768, P49023, P49024, P50551, P50552, P70315, P78813, P98082, Q05140, Q0V8S0, Q13492, Q14677, Q24212, Q27974, Q2TA49, Q4V882, Q5R896, Q60902, Q61548, Q7M6Y3, Q80TZ3, Q80VP1, Q8BYZ1, Q8CHU3, Q8K382, Q8L860, Q8TEH3, Q8VI36, Q91W69

Diamond homologs: A1CBF3, A1DDY6, A2RA84, A3LPY4, A4QST9, A5DBE7, A5DZL0, A6R7X5, A6S9V4, A6ZPP1, A6ZZY3, A7EDF3, B0YC95, O14066, O42287, O54916, P34216, P36115, P47030, Q15811, Q1DKE6, Q2H9M1, Q4WG58, Q4WVH0, Q54KI4, Q59SR6, Q5BH85, Q60902, Q6BRH9, Q6C449, Q6C908, Q6CSC2, Q6FJW0, Q754G7, Q75AA0, Q7SB65, Q96D71, Q9NZM3, Q9UBC2, Q9WVE9

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 125 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
WNT5A-dependent internalization of FZD4	5	44.3×	3e-06
VLDLR internalisation and degradation	5	41.5×	4e-06
Trafficking of GluR2-containing AMPA receptors	5	39.1×	5e-06
LDL clearance	6	37.9×	6e-07
Nef-mediates down modulation of cell surface receptors by recruiting them to clathrin adapters	5	36.9×	6e-06
The role of Nef in HIV-1 replication and disease pathogenesis	5	36.9×	6e-06
Plasma lipoprotein clearance	6	33.2×	1e-06
Recycling pathway of L1	9	23.4×	2e-08

GO biological processes:

GO term	Partners	Fold	FDR
clathrin-dependent endocytosis	8	42.6×	4e-09
clathrin coat assembly	5	40.7×	2e-05
synaptic vesicle endocytosis	7	27.8×	1e-06
regulation of endocytosis	5	22.1×	3e-04
mitotic spindle organization	7	17.5×	2e-05
endocytosis	12	10.5×	5e-07
mitotic cell cycle	6	7.4×	9e-03
vesicle-mediated transport	7	6.2×	9e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	96
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

3615 predictions. Top by Δscore:

Variant	Effect	Δscore
19:16377116:A:AC	donor_gain	1.0000
19:16377117:C:CC	donor_gain	1.0000
19:16386228:CGAG:C	acceptor_gain	1.0000
19:16386232:C:CC	acceptor_gain	1.0000
19:16392299:CTCA:C	donor_loss	1.0000
19:16392301:CA:C	donor_loss	1.0000
19:16392303:CCTT:C	donor_gain	1.0000
19:16392436:TGGAT:T	acceptor_gain	1.0000
19:16392437:GGAT:G	acceptor_gain	1.0000
19:16392438:GAT:G	acceptor_gain	1.0000
19:16392439:AT:A	acceptor_gain	1.0000
19:16392440:TC:T	acceptor_loss	1.0000
19:16392441:C:CC	acceptor_gain	1.0000
19:16392442:T:G	acceptor_loss	1.0000
19:16393945:TTTTA:T	donor_loss	1.0000
19:16393946:TTTAC:T	donor_loss	1.0000
19:16393947:TTA:T	donor_loss	1.0000
19:16393948:TACCT:T	donor_loss	1.0000
19:16393949:A:T	donor_loss	1.0000
19:16393950:C:CA	donor_loss	1.0000
19:16393997:GTCGC:G	acceptor_gain	1.0000
19:16393998:TCGC:T	acceptor_gain	1.0000
19:16393999:CGC:C	acceptor_gain	1.0000
19:16393999:CGCC:C	acceptor_gain	1.0000
19:16394000:GC:G	acceptor_gain	1.0000
19:16394001:CC:C	acceptor_gain	1.0000
19:16394001:CCTGG:C	acceptor_loss	1.0000
19:16394002:C:CC	acceptor_gain	1.0000
19:16394003:T:A	acceptor_loss	1.0000
19:16394006:T:C	acceptor_gain	1.0000

AlphaMissense

6030 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:16404640:A:G	L459P	1.000
19:16404670:A:G	L449P	1.000
19:16418048:G:T	A336D	1.000
19:16418057:A:G	F333S	1.000
19:16418072:A:G	L328S	1.000
19:16418104:C:A	W317C	1.000
19:16418104:C:G	W317C	1.000
19:16421320:A:G	W317R	1.000
19:16421320:A:T	W317R	1.000
19:16421322:A:T	I316K	1.000
19:16421331:A:G	L313P	1.000
19:16421388:A:T	V294E	1.000
19:16425295:C:G	A194P	1.000
19:16428708:G:C	F184L	1.000
19:16428708:G:T	F184L	1.000
19:16428709:A:G	F184S	1.000
19:16428710:A:G	F184L	1.000
19:16428724:A:G	L179S	1.000
19:16428747:A:C	S171R	1.000
19:16428747:A:T	S171R	1.000
19:16428749:T:G	S171R	1.000
19:16428751:A:G	L170P	1.000
19:16428756:C:A	W168C	1.000
19:16428756:C:G	W168C	1.000
19:16428757:C:G	W168S	1.000
19:16428758:A:G	W168R	1.000
19:16428758:A:T	W168R	1.000
19:16434387:A:G	L159P	1.000
19:16434402:A:G	L154P	1.000
19:16434405:A:T	V153D	1.000

dbSNP variants (sampled 300 via entrez): RS1000018160 (19:16438667 C>A), RS1000023829 (19:16401119 C>T), RS1000089608 (19:16437377 A>G), RS1000090623 (19:16357575 G>C), RS1000111117 (19:16371482 G>A), RS1000130247 (19:16395076 C>T), RS1000145666 (19:16458050 T>C,G), RS1000154495 (19:16384783 A>G), RS1000185137 (19:16357813 C>T), RS1000189371 (19:16415267 T>C), RS1000200788 (19:16393701 A>T), RS1000207490 (19:16468316 G>A), RS1000230453 (19:16467976 T>C), RS1000287722 (19:16391565 A>C,G), RS1000362702 (19:16368320 C>A,T)

Disease associations

OMIM: gene MIM:616826 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
split hand-foot malformation	Supportive	Autosomal dominant

Mondo (1): split hand-foot malformation (MONDO:0016576)

Orphanet (0):

HPO phenotypes

8 total (8 of 8 shown, HPO-id order):

HPO	Term
HP:0000407	Sensorineural hearing impairment
HP:0000526	Aniridia
HP:0001171	Split hand
HP:0001839	Split foot
HP:0004050	Absent hand
HP:0004058	Hand monodactyly
HP:0006101	Finger syndactyly
HP:0012165	Oligodactyly

GWAS associations

23 associations (top):

Study	Trait	p-value
GCST001137_3	White blood cell count	3.000000e-12
GCST001341_18	Multiple sclerosis	2.000000e-07
GCST001760_1	White matter integrity	4.000000e-06
GCST004609_95	Monocyte percentage of white cells	4.000000e-13
GCST004610_92	White blood cell count	1.000000e-29
GCST004617_35	Eosinophil percentage of granulocytes	5.000000e-12
GCST004623_94	Neutrophil percentage of granulocytes	2.000000e-11
GCST004627_187	Lymphocyte count	7.000000e-132
GCST004627_188	Lymphocyte count	5.000000e-42
GCST004632_21	Lymphocyte percentage of white cells	3.000000e-70
GCST004633_11	Neutrophil percentage of white cells	2.000000e-39
GCST005531_18	Multiple sclerosis	2.000000e-15
GCST005997_4	Lymphocyte count	7.000000e-13
GCST009597_308	Multiple sclerosis	4.000000e-24
GCST010989_288	Body size at age 10	1.000000e-08
GCST90002379_194	Basophil count	4.000000e-22
GCST90002381_251	Eosinophil count	6.000000e-19
GCST90002382_457	Eosinophil percentage of white cells	2.000000e-12
GCST90002388_50	Lymphocyte count	2.000000e-242
GCST90002389_396	Lymphocyte percentage of white cells	4.000000e-136
GCST90002394_446	Monocyte percentage of white cells	4.000000e-20
GCST90002399_227	Neutrophil percentage of white cells	3.000000e-84
GCST90002407_367	White blood cell count	3.000000e-55

EFO canonical traits (11, from GWAS)

EFO ID	Trait name
EFO:0004587	lymphocyte count
EFO:0004641	white matter integrity
EFO:0007989	monocyte percentage of leukocytes
EFO:0007996	eosinophil percentage of granulocytes
EFO:0007994	neutrophil percentage of granulocytes
EFO:0007993	lymphocyte percentage of leukocytes
EFO:0007990	neutrophil percentage of leukocytes
EFO:0009819	comparative body size at age 10, self-reported
EFO:0005090	basophil count
EFO:0004842	eosinophil count
EFO:0007991	eosinophil percentage of leukocytes

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases expression	2
sodium arsenite	increases abundance, increases expression	2
Arsenic	increases abundance, increases expression	2
Estradiol	increases expression, increases phosphorylation	2
GSK-J4	increases expression	1
FR900359	affects phosphorylation	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, affects expression, affects oxidation, increases abundance	1
tetrabromobisphenol A	decreases expression	1
benzo(e)pyrene	affects methylation	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, increases expression	1
aflatoxin B2	decreases methylation	1
coumarin	affects phosphorylation	1
methacrylaldehyde	affects cotreatment, affects expression, affects oxidation, increases abundance	1
cylindrospermopsin	increases expression	1
2-palmitoylglycerol	increases expression	1
nutlin 3	affects cotreatment, increases secretion	1
abrine	increases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
pentabrominated diphenyl ether 100	decreases expression	1
hexabrominated diphenyl ether 153	decreases expression	1
Vorinostat	decreases expression	1
Acrolein	affects cotreatment, affects expression, affects oxidation, increases abundance	1
Air Pollutants	affects cotreatment, affects expression, affects oxidation, increases abundance	1
Vehicle Emissions	decreases expression, increases abundance	1
Benzo(a)pyrene	affects methylation	1
Caffeine	decreases phosphorylation	1
Coumestrol	increases expression, affects cotreatment	1
Dactinomycin	affects cotreatment, increases secretion	1
Doxorubicin	decreases expression	1

Clinical trials (associated diseases)

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