IKZF4

Summary

IKZF4 (IKAROS family zinc finger 4, HGNC:13179) is a protein-coding gene on chromosome 12q13.2, encoding Zinc finger protein Eos (Q9H2S9). DNA-binding protein that binds to the 5’GGGAATRCC-3’ Ikaros-binding sequence.

Members of the Ikaros (ZNFN1A1; MIM 603023) family of transcription factors, which includes Eos, are expressed in lymphocytes and are implicated in the control of lymphoid development.

Source: NCBI Gene 64375 — RefSeq curated summary.

At a glance

• GWAS associations: 29
• Clinical variants (ClinVar): 75 total — 2 pathogenic
• MANE Select transcript: NM_022465

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:13179
Approved symbol	IKZF4
Name	IKAROS family zinc finger 4
Location	12q13.2
Locus type	gene with protein product
Status	Approved
Aliases	Eos
Ensembl gene	ENSG00000123411
Ensembl biotype	protein_coding
OMIM	606239
Entrez	64375

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 6 protein_coding, 5 protein_coding_CDS_not_defined, 2 retained_intron, 1 nonsense_mediated_decay

ENST00000262032, ENST00000431367, ENST00000547167, ENST00000547556, ENST00000547668, ENST00000547791, ENST00000548601, ENST00000549519, ENST00000550860, ENST00000551103, ENST00000551124, ENST00000551701, ENST00000552689, ENST00000936077

RefSeq mRNA: 5 — MANE Select: NM_022465 NM_001351089, NM_001351090, NM_001351091, NM_001351092, NM_022465

CCDS: CCDS44917, CCDS86309

Canonical transcript exons

ENST00000547167 — 8 exons

Exon	Start	End
ENSE00001059573	56034571	56038435
ENSE00002379506	56021043	56021580
ENSE00003487500	56033190	56033321
ENSE00003498872	56025054	56025158
ENSE00003499705	56027780	56027947
ENSE00003518898	56023671	56023764
ENSE00003623091	56032561	56032710
ENSE00003735745	56026781	56027041

Expression profiles

Bgee: expression breadth ubiquitous, 242 present calls, max score 88.58.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 5.9917 / max 95.4369, expressed in 1371 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
126039	1.8596	920
126040	1.6614	427
126042	0.8285	215
126041	0.6316	249
126038	0.5432	309
126043	0.3967	137
126044	0.0707	17

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
buccal mucosa cell	CL:0002336	88.58	silver quality
left adrenal gland	UBERON:0001234	83.44	gold quality
adrenal cortex	UBERON:0001235	83.37	gold quality
left adrenal gland cortex	UBERON:0035825	83.28	gold quality
right adrenal gland	UBERON:0001233	82.60	gold quality
cortical plate	UBERON:0005343	82.35	gold quality
inferior vagus X ganglion	UBERON:0005363	82.28	gold quality
hindlimb stylopod muscle	UBERON:0004252	82.19	gold quality
right adrenal gland cortex	UBERON:0035827	82.16	gold quality
adrenal gland	UBERON:0002369	82.03	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	81.72	gold quality
gastrocnemius	UBERON:0001388	81.60	gold quality
right ovary	UBERON:0002118	81.51	gold quality
ventral tegmental area	UBERON:0002691	81.50	gold quality
muscle of leg	UBERON:0001383	81.35	gold quality
left ovary	UBERON:0002119	81.29	gold quality
mucosa of stomach	UBERON:0001199	81.23	gold quality
left uterine tube	UBERON:0001303	80.88	gold quality
triceps brachii	UBERON:0001509	80.52	gold quality
right hemisphere of cerebellum	UBERON:0014890	80.43	gold quality
pituitary gland	UBERON:0000007	80.07	gold quality
adenohypophysis	UBERON:0002196	79.93	gold quality
cerebellar hemisphere	UBERON:0002245	79.92	gold quality
cerebellar cortex	UBERON:0002129	79.88	gold quality
gluteal muscle	UBERON:0002000	79.73	gold quality
ovary	UBERON:0000992	79.66	gold quality
right uterine tube	UBERON:0001302	79.65	gold quality
muscle organ	UBERON:0001630	79.15	gold quality
skeletal muscle organ	UBERON:0014892	79.14	gold quality
cerebellum	UBERON:0002037	79.10	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.43
E-MTAB-7303	no	233.42

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

9 targets.

Target	Regulation
ADAM2
CTSK
DLG4
HBG1
LNPEP	Activation
MIR499A
MYH1
MYH14
MYH7B	Unknown

miRNA regulators (miRDB)

159 targeting IKZF4, 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-5011-5P	100.00	83.46	5820
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-6758-5P	100.00	66.21	1470
HSA-MIR-6856-5P	100.00	65.47	1298
HSA-MIR-3689D	100.00	66.14	1181
HSA-MIR-6851-5P	100.00	65.63	1294
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-6759-5P	99.99	66.54	785
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-6793-5P	99.97	65.95	758

Literature-anchored findings (GeneRIF, showing 6)

• IKZF4 polymorphism (rs1701704) was strongly associated with insulin autobody positivity at the time of type 1 diabetes diagnosis (PMID:23721563)
• These findings suggest that both Tax and HBZ can alter the expression of EOS through undetermined mechanisms, and dysregulated expression of EOS in peripheral blood mononuclear leukocytes of HTLV-1 infected individuals may contribute to the pathological progression of HTLV-1-associated diseases. (PMID:31856855)
• Genetic variation at ERBB3/IKZF4 and sexual dimorphism in epitope spreading in single autoantibody-positive relatives. (PMID:34448034)
• IKZF4 acts as a novel tumor suppressor in non-small cell lung cancer by suppressing Notch signaling pathway. (PMID:37044192)
• IKZF4/NONO-RAB11FIP3 axis promotes immune evasion in gastric cancer via facilitating PD-L1 endosome recycling. (PMID:38211652)
• Association analysis of the IKZF4 gene with Alopecia Areata in the Chinese Han population. (PMID:38330583)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	ikzf4	ENSDARG00000037068
mus_musculus	Ikzf4	ENSMUSG00000002578
rattus_norvegicus	Ikzf4	ENSRNOG00000005535
drosophila_melanogaster	CG14442	FBGN0029893
drosophila_melanogaster	CG14440	FBGN0029894

Paralogs (11): IKZF2 (ENSG00000030419), ZNF821 (ENSG00000102984), ZNF639 (ENSG00000121864), ZNF382 (ENSG00000161298), IKZF3 (ENSG00000161405), ZNF613 (ENSG00000176024), IKZF1 (ENSG00000185811), ZNF567 (ENSG00000189042), ZNF649 (ENSG00000198093), ZNF564 (ENSG00000249709), ZNF350 (ENSG00000256683)

Protein

Protein identifiers

Zinc finger protein Eos — Q9H2S9 (reviewed: Q9H2S9)

Alternative names: Ikaros family zinc finger protein 4

All UniProt accessions (4): A0A0G2JL44, Q9H2S9, F8VPL6, F8VW19

UniProt curated annotations — full annotation on UniProt →

Function. DNA-binding protein that binds to the 5’GGGAATRCC-3’ Ikaros-binding sequence. Transcriptional repressor. Interacts with SPI1 and MITF to repress transcription of the CTSK and ACP5 promoters via recruitment of corepressors SIN3A and CTBP2. May be involved in the development of central and peripheral nervous systems. Essential for the inhibitory function of regulatory T-cells (Treg). Mediates FOXP3-mediated gene silencing in regulatory T-cells (Treg) via recruitment of corepressor CTBP1.

Subunit / interactions. Self-associates. Interacts with other family members; IKZF1, IKZF2, IKZF3 and IKZF5. Interacts with CTBP2. Interacts with SPI1, MITF, FOXP3 and CTBP1.

Subcellular location. Nucleus.

Tissue specificity. Highly expressed in skeletal muscle, low levels of expression in heart, thymus, kidney, liver, and spleen. Expressed in the hematopoietic cell lines MOLT-4, NALM-6 and K-562. Highly expressed in THP-1 and M-07e cell lines, which have characteristics of myeloid and early megakaryocytic cells respectively.

Domain organisation. The N-terminal zinc fingers are involved in sequence-specific DNA binding and heterotypic associations with other family members. C-terminal zinc fingers mediate homodimerization.

Miscellaneous. ‘Eos’ means ‘rising sun’ in Greek.

Similarity. Belongs to the Ikaros C2H2-type zinc-finger protein family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9H2S9-1	1	yes
Q9H2S9-2	2

RefSeq proteins (5): NP_001338018, NP_001338019, NP_001338020, NP_001338021, NP_071910* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR013087	Znf_C2H2_type	Domain
IPR036236	Znf_C2H2_sf	Homologous_superfamily
IPR050589	Ikaros_C2H2-ZF	Family

Pfam: PF00096

UniProt features (32 total): zinc finger region 6, sequence conflict 5, region of interest 4, compositionally biased region 3, modified residue 2, cross-link 2, helix 2, strand 2, turn 2, chain 1, short sequence motif 1, splice variant 1, mutagenesis site 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
2MA7	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H2S9-F1	49.47	0.00

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 (4): 105, 335, 100, 500

Mutagenesis-validated functional residues (1):

Position	Phenotype
425–427	no effect on ctbp2 interaction.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 214 (showing top): FREAC2_01, TGCACTT_MIR519C_MIR519B_MIR519A, ATACCTC_MIR202, MODULE_453, AGGCACT_MIR5153P, BLALOCK_ALZHEIMERS_DISEASE_UP, LIAO_METASTASIS, TGACATY_UNKNOWN, BROWN_MYELOID_CELL_DEVELOPMENT_DN, TGAGATT_MIR216, GOBP_PROTEIN_HOMOOLIGOMERIZATION, GATA1_02, AGCTCCT_MIR28, NKX3A_01, FOXO4_02

GO Biological Process (5): regulation of transcription by RNA polymerase II (GO:0006357), negative regulation of DNA-templated transcription (GO:0045892), positive regulation of transcription by RNA polymerase II (GO:0045944), protein homooligomerization (GO:0051260), regulation of DNA-templated transcription (GO:0006355)

GO Molecular Function (9): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity (GO:0003700), zinc ion binding (GO:0008270), protein domain specific binding (GO:0019904), bHLH transcription factor binding (GO:0043425), DNA binding (GO:0003677), protein binding (GO:0005515), sequence-specific DNA binding (GO:0043565), metal ion binding (GO:0046872)

GO Cellular Component (4): nucleus (GO:0005634), nucleoplasm (GO:0005654), nuclear body (GO:0016604), protein-containing complex (GO:0032991)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of DNA-templated transcription	3
transcription by RNA polymerase II	2
DNA-templated transcription	2
negative regulation of RNA biosynthetic process	1
regulation of transcription by RNA polymerase II	1
positive regulation of DNA-templated transcription	1
protein complex oligomerization	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
RNA polymerase II transcription regulatory region sequence-specific DNA binding	1
cis-regulatory region sequence-specific DNA binding	1
transcription cis-regulatory region binding	1
transcription regulator activity	1
transition metal ion binding	1
protein binding	1
DNA-binding transcription factor binding	1
nucleic acid binding	1
binding	1
DNA binding	1
cation binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cellular anatomical structure	1
nucleoplasm	1
intracellular membraneless organelle	1
cellular_component	1

Protein interactions and networks

STRING

922 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
IKZF4	FOXP3	Q9BZS1	887
IKZF4	GATA3	P23771	606
IKZF4	RUNX1	Q01196	594
IKZF4	TNFRSF18	Q9Y5U5	549
IKZF4	IL2RA	P01589	546
IKZF4	LRRC32	Q14392	503
IKZF4	CTLA4	P16410	485
IKZF4	GPR83	Q9NYM4	443
IKZF4	SATB1	Q01826	443
IKZF4	TMEM121B	Q9BXQ6	441
IKZF4	IL10RA	Q13651	435
IKZF4	FOXO1	Q12778	416
IKZF4	LHFPL4	Q7Z7J7	414
IKZF4	SUOX	P51687	409
IKZF4	IRF4	Q15306	404

IntAct

37 interactions, top by confidence:

A	B	Type	Score
TCEA2	IKZF4	psi-mi:“MI:0915”(physical association)	0.560
TXK	IKZF4	psi-mi:“MI:0915”(physical association)	0.560
CDC7	IKZF4	psi-mi:“MI:0915”(physical association)	0.560
MCRS1	IKZF4	psi-mi:“MI:0915”(physical association)	0.560
IKZF4	MOB1A	psi-mi:“MI:0915”(physical association)	0.560
CSNK1D	IKZF4	psi-mi:“MI:0915”(physical association)	0.560
IKZF4	TCAF1	psi-mi:“MI:0915”(physical association)	0.560
IKZF4	MOB3C	psi-mi:“MI:0915”(physical association)	0.560
IKZF3	SETMAR	psi-mi:“MI:0914”(association)	0.530
IKZF3	IKZF4	psi-mi:“MI:0915”(physical association)	0.500
M		psi-mi:“MI:0914”(association)	0.350
CEP135	WDR91	psi-mi:“MI:0914”(association)	0.350
IKZF4	OBSL1	psi-mi:“MI:0914”(association)	0.350
IKZF5	PEX14	psi-mi:“MI:0914”(association)	0.350
IKZF1	MTA2	psi-mi:“MI:0914”(association)	0.350
IKZF1	POTEF	psi-mi:“MI:0914”(association)	0.350
IKZF1	HSPA1L	psi-mi:“MI:0914”(association)	0.350
FHL2	IKZF4	psi-mi:“MI:0915”(physical association)	0.000
IKZF4	FHL2	psi-mi:“MI:0915”(physical association)	0.000
IKZF4	NFKBIA	psi-mi:“MI:0915”(physical association)	0.000
TCEA2	IKZF4	psi-mi:“MI:0915”(physical association)	0.000
TXK	IKZF4	psi-mi:“MI:0915”(physical association)	0.000
CDC7	IKZF4	psi-mi:“MI:0915”(physical association)	0.000
MCRS1	IKZF4	psi-mi:“MI:0915”(physical association)	0.000
MOB3C	IKZF4	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (52): IKZF4 (Affinity Capture-MS), IKZF4 (Affinity Capture-MS), IKZF4 (Affinity Capture-MS), IKZF4 (Affinity Capture-MS), SIN3A (Affinity Capture-Western), SIN3B (Affinity Capture-Western), CHD4 (Affinity Capture-Western), HDAC2 (Affinity Capture-Western), HDAC4 (Affinity Capture-Western), HDAC5 (Affinity Capture-Western), HDAC7 (Affinity Capture-Western), IKZF4 (Two-hybrid), IKZF4 (Two-hybrid), IKZF4 (Two-hybrid), CSNK1D (Two-hybrid)

ESM2 similar proteins: A1L2U9, A2APF3, A2BID7, A2VDT4, B1WAZ8, B1WBU4, G5E869, O08961, O14753, O43298, Q05516, Q0IH98, Q0VCJ6, Q13422, Q2I689, Q2M1K9, Q3U288, Q58NQ5, Q5NBY9, Q5TC79, Q5U2T6, Q6DJT9, Q6NS86, Q6ZPY5, Q80TS5, Q86UZ6, Q8BHZ4, Q8C208, Q8CCH7, Q8CIV7, Q8K0L9, Q8N1W2, Q8N895, Q8NCN2, Q8WW38, Q90W33, Q92610, Q96BR9, Q9BRP0, Q9BYN7

Diamond homologs: A0JPB4, A2VDW9, A4IFJ6, H2L008, O08900, O13089, O42410, O62537, O62538, O62541, O96785, P05084, P13361, P81183, Q01778, Q01791, Q03267, Q13422, Q25514, Q5R9W9, Q5ZLR2, Q6DBW0, Q6NRM0, Q6XDT4, Q6XDT6, Q8BU00, Q8C208, Q90ZS6, Q925H1, Q9H2S9, Q9H5V7, Q9UHF7, Q9UKS7, Q9UKT9, Q5JPB2, Q65XX7, O18326, O46232, O46234, O46236

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
IKZF4	“up-regulates quantity by expression”	LNPEP	“transcriptional regulation”

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	0
Uncertain significance	63
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
2423490	NC_000012.11:g.(?56396006)(56437938_?)del	Pathogenic
88979	NC_000012.10:g.54711095_54731551del	Pathogenic

SpliceAI

1864 predictions. Top by Δscore:

Variant	Effect	Δscore
12:56007732:CAGGT:C	donor_loss	1.0000
12:56026780:GCCA:G	acceptor_gain	1.0000
12:56027038:ACTG:A	donor_gain	1.0000
12:56027039:CTGG:C	donor_loss	1.0000
12:56027040:TG:T	donor_gain	1.0000
12:56027041:GG:G	donor_gain	1.0000
12:56027042:G:GG	donor_gain	1.0000
12:56027042:GTA:G	donor_loss	1.0000
12:56027043:T:G	donor_loss	1.0000
12:56027772:A:AG	acceptor_gain	1.0000
12:56027772:ACTT:A	acceptor_gain	1.0000
12:56027773:C:G	acceptor_gain	1.0000
12:56027777:CAG:C	acceptor_loss	1.0000
12:56027778:A:AG	acceptor_gain	1.0000
12:56027778:AG:A	acceptor_gain	1.0000
12:56027779:G:GT	acceptor_gain	1.0000
12:56027779:GG:G	acceptor_gain	1.0000
12:56027779:GGT:G	acceptor_gain	1.0000
12:56027779:GGTGA:G	acceptor_gain	1.0000
12:56027944:TCAGG:T	donor_loss	1.0000
12:56027947:GG:G	donor_loss	1.0000
12:56027948:G:A	donor_loss	1.0000
12:56032558:C:G	acceptor_gain	1.0000
12:56032559:A:AG	acceptor_gain	1.0000
12:56032560:G:GG	acceptor_gain	1.0000
12:56032560:GT:G	acceptor_gain	1.0000
12:56032560:GTC:G	acceptor_gain	1.0000
12:56032560:GTCT:G	acceptor_gain	1.0000
12:56032560:GTCTC:G	acceptor_gain	1.0000
12:56032708:CAG:C	donor_loss	1.0000

AlphaMissense

3830 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:56026975:T:A	C161S	1.000
12:56026975:T:C	C161R	1.000
12:56026976:G:C	C161S	1.000
12:56026977:T:G	C161W	1.000
12:56026984:T:A	C164S	1.000
12:56026984:T:C	C164R	1.000
12:56026985:G:A	C164Y	1.000
12:56026985:G:C	C164S	1.000
12:56026986:C:G	C164W	1.000
12:56026996:T:C	C168R	1.000
12:56027015:T:C	L174P	1.000
12:56027023:C:G	H177D	1.000
12:56027029:C:A	R179S	1.000
12:56027030:G:C	R179P	1.000
12:56027035:C:G	H181D	1.000
12:56027037:C:A	H181Q	1.000
12:56027037:C:G	H181Q	1.000
12:56027791:T:C	F187L	1.000
12:56027792:T:C	F187S	1.000
12:56027793:C:A	F187L	1.000
12:56027793:C:G	F187L	1.000
12:56027797:T:C	C189R	1.000
12:56027798:G:A	C189Y	1.000
12:56027799:C:G	C189W	1.000
12:56027806:T:A	C192S	1.000
12:56027806:T:C	C192R	1.000
12:56027807:G:C	C192S	1.000
12:56027808:T:G	C192W	1.000
12:56027818:T:A	F196I	1.000
12:56027818:T:C	F196L	1.000

dbSNP variants (sampled 300 via entrez): RS1000101620 (12:56026080 C>G,T), RS1000200670 (12:56027699 G>A), RS1000219368 (12:56019782 A>C,G), RS1000382000 (12:56012713 G>A), RS1000416922 (12:56017617 G>A), RS1000549665 (12:56011791 G>A), RS1000645667 (12:56034602 C>A), RS1000732267 (12:56012158 T>A,C), RS1000823682 (12:56006929 G>A), RS1000937773 (12:56006419 C>T), RS1001012932 (12:56019360 G>A), RS1001159995 (12:56027296 G>A,C), RS1001165492 (12:56012082 C>T), RS1001322744 (12:56026438 C>A), RS1001358683 (12:56010626 G>A)

Disease associations

OMIM: gene MIM:606239 | disease phenotypes: MIM:613309

GenCC curated gene-disease

Mondo (1): Diamond-Blackfan anemia 10 (MONDO:0013217)

Orphanet (1): Diamond-Blackfan anemia (Orphanet:124)

HPO phenotypes

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

GWAS associations

29 associations (top):

Study	Trait	p-value
GCST000141_1	Type 1 diabetes	9.000000e-10
GCST000719_7	Alopecia areata	3.000000e-08
GCST001183_10	Asthma	2.000000e-13
GCST001191_19	Type 1 diabetes	5.000000e-18
GCST001509_1	Vitiligo	3.000000e-14
GCST001670_1	Vitiligo	8.000000e-12
GCST002774_24	Cognitive function	3.000000e-07
GCST004367_1	Anorexia nervosa	4.000000e-09
GCST004600_6	Eosinophil percentage of white cells	4.000000e-14
GCST004617_143	Eosinophil percentage of granulocytes	1.000000e-11
GCST004623_58	Neutrophil percentage of granulocytes	7.000000e-11
GCST004785_8	Vitiligo	7.000000e-31
GCST004866_11	Alopecia areata	4.000000e-09
GCST005038_78	Allergic disease (asthma, hay fever or eczema)	1.000000e-19
GCST005141_12	Cognitive ability (MTAG)	1.000000e-08
GCST005316_372	Intelligence (MTAG)	2.000000e-12
GCST005536_27	Type 1 diabetes	4.000000e-32
GCST007327_133	Smoking status (ever vs never smokers)	4.000000e-09
GCST007563_23	Allergic disease (asthma, hay fever or eczema)	4.000000e-10
GCST007564_9	Asthma or allergic disease (pleiotropy)	1.000000e-13
GCST008810_45	Smoking initiation (ever regular vs never regular)	3.000000e-08
GCST008916_124	Asthma	1.000000e-16
GCST009524_329	Household income (MTAG)	8.000000e-14
GCST009798_45	Asthma	1.000000e-15
GCST009873_6	Autoimmune traits (pleiotropy)	2.000000e-20
GCST010002_217	Refractive error	6.000000e-174
GCST010703_297	Brain morphology (MOSTest)	4.000000e-10
GCST011157_1	Asthma	2.000000e-14
GCST90000050_53	Age at first birth	8.000000e-10

EFO canonical traits (10, from GWAS)

EFO ID	Trait name
EFO:0004337	intelligence
EFO:0007991	eosinophil percentage of leukocytes
EFO:0007996	eosinophil percentage of granulocytes
EFO:0007994	neutrophil percentage of granulocytes
EFO:0004784	self reported educational attainment
EFO:0004318	smoking behavior
EFO:0005670	smoking initiation
EFO:0009695	household income
EFO:0004346	neuroimaging measurement
EFO:0009101	age at first birth measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C567649	Diamond-Blackfan Anemia 10 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases expression, increases methylation, affects expression	4
GSK-J4	decreases expression	1
FR900359	increases phosphorylation	1
dicrotophos	increases expression	1
triphenyl phosphate	affects expression	1
2-butenal	decreases expression	1
butyraldehyde	decreases expression	1
pentanal	decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Atrazine	decreases expression	1
Benzo(a)pyrene	increases methylation	1
Caffeine	increases phosphorylation	1
Diethylhexyl Phthalate	decreases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Dronabinol	increases expression	1
Fluorescein-5-isothiocyanate	affects binding	1

Clinical trials (associated diseases)

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