FOXA3

Summary

FOXA3 (forkhead box A3, HGNC:5023) is a protein-coding gene on chromosome 19q13.32, encoding Hepatocyte nuclear factor 3-gamma (P55318). Transcription factor that is thought to act as a ‘pioneer’ factor opening the compacted chromatin for other proteins through interactions with nucleosomal core histones and thereby replacing linker histones at target enhancer and/or promoter sites.

This gene encodes a member of the forkhead class of DNA-binding proteins. These hepatocyte nuclear factors are transcriptional activators for liver-specific transcripts such as albumin and transthyretin, and they also interact with chromatin. Similar family members in mice have roles in the regulation of metabolism and in the differentiation of the pancreas and liver. The crystal structure of a similar protein in rat has been resolved.

Source: NCBI Gene 3171 — RefSeq curated summary.

At a glance

• GWAS associations: 8
• Clinical variants (ClinVar): 54 total
• Transcription factor: yes — 19 downstream targets (CollecTRI)
• MANE Select transcript: NM_004497

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:5023
Approved symbol	FOXA3
Name	forkhead box A3
Location	19q13.32
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000170608
Ensembl biotype	protein_coding
OMIM	602295
Entrez	3171

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 4 protein_coding

ENST00000302177, ENST00000594297, ENST00000876764, ENST00000876765

RefSeq mRNA: 1 — MANE Select: NM_004497 NM_004497

CCDS: CCDS12677

Canonical transcript exons

ENST00000302177 — 2 exons

Exon	Start	End
ENSE00001156764	45872075	45873797
ENSE00001244946	45864326	45864525

Expression profiles

Bgee: expression breadth ubiquitous, 107 present calls, max score 92.23.

FANTOM5 (CAGE): breadth broad, TPM avg 1.9728 / max 171.3050, expressed in 309 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
176513	1.8280	294
176512	0.1448	88

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
ileal mucosa	UBERON:0000331	92.23	gold quality
right lobe of liver	UBERON:0001114	91.95	gold quality
pancreatic ductal cell	CL:0002079	91.33	gold quality
mucosa of transverse colon	UBERON:0004991	90.64	gold quality
liver	UBERON:0002107	90.22	gold quality
body of pancreas	UBERON:0001150	89.86	gold quality
epithelial cell of pancreas	CL:0000083	86.79	silver quality
pancreas	UBERON:0001264	86.72	gold quality
mucosa of sigmoid colon	UBERON:0004993	85.92	gold quality
colonic mucosa	UBERON:0000317	85.21	gold quality
rectum	UBERON:0001052	84.45	gold quality
cartilage tissue	UBERON:0002418	82.07	gold quality
islet of Langerhans	UBERON:0000006	81.54	gold quality
palpebral conjunctiva	UBERON:0001812	81.09	gold quality
body of stomach	UBERON:0001161	80.28	gold quality
duodenum	UBERON:0002114	79.48	gold quality
stomach	UBERON:0000945	79.17	gold quality
tibia	UBERON:0000979	78.42	gold quality
transverse colon	UBERON:0001157	75.36	gold quality
pylorus	UBERON:0001166	74.10	gold quality
jejunal mucosa	UBERON:0000399	73.93	gold quality
small intestine	UBERON:0002108	72.56	gold quality
small intestine Peyer’s patch	UBERON:0003454	72.22	gold quality
cardia of stomach	UBERON:0001162	70.73	silver quality
bronchial epithelial cell	CL:0002328	69.05	gold quality
bronchus	UBERON:0002185	68.77	gold quality
intestine	UBERON:0000160	67.67	gold quality
gall bladder	UBERON:0002110	67.50	gold quality
fundus of stomach	UBERON:0001160	67.22	gold quality
large intestine	UBERON:0000059	66.29	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-GEOD-125970	yes	19.74
E-MTAB-8410	yes	11.48
E-ANND-3	yes	9.53

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

19 targets.

Target	Regulation
ABCB1
C4BPB
CDH15	Repression
CEBPA
CIDEA	Repression
COX4I2	Repression
CYP2C19	Unknown
CYP2C8	Unknown
CYP2C9	Unknown
CYP3A4	Unknown
CYP3A7	Unknown
IGF1
IKBKE
IL5
PPARGC1A	Repression
SLC28A2	Unknown
SLC2A2	Unknown
TAT
UCP1	Repression

JASPAR motifs

Motif	Name	Family
MA1683.1	FOXA3	FOX
MA1683.2	FOXA3	FOX

JASPAR matrix evidence (PMIDs): PMID:19919681

Upstream regulators (CollecTRI, top): FOXM1, HNF1B, STAT5A

miRNA regulators (miRDB)

36 targeting FOXA3, 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-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-4650-5P	99.98	64.69	999
HSA-MIR-128-3P	99.95	71.17	2484
HSA-MIR-216A-3P	99.95	71.19	2505
HSA-MIR-3681-3P	99.88	70.46	2254
HSA-MIR-3919	99.87	69.45	2489
HSA-MIR-4672	99.50	71.58	2893
HSA-MIR-1275	99.47	67.90	2749
HSA-MIR-4480	99.42	66.02	735
HSA-MIR-7151-5P	99.37	67.82	613
HSA-MIR-580-5P	99.28	70.94	1776
HSA-MIR-7109-5P	99.18	66.13	1057
HSA-MIR-3926	98.95	69.26	1438
HSA-MIR-876-3P	98.76	68.23	945
HSA-MIR-222-5P	98.75	69.17	1242
HSA-MIR-4662A-5P	98.48	67.18	1007
HSA-MIR-499B-5P	98.35	68.39	988
HSA-MIR-3130-5P	98.14	66.00	711
HSA-MIR-6884-3P	98.05	65.32	750
HSA-MIR-1302	97.92	67.27	844
HSA-MIR-4665-5P	97.91	67.69	1536
HSA-MIR-219B-5P	97.91	65.80	531
HSA-MIR-1972	97.67	67.38	1172
HSA-MIR-6782-3P	97.60	67.75	931
HSA-MIR-4482-5P	97.53	65.68	598
HSA-MIR-4640-5P	97.42	66.33	1543
HSA-MIR-4298	97.26	66.59	765
HSA-MIR-6849-3P	97.25	64.57	1371

Literature-anchored findings (GeneRIF, showing 13)

• the HNF-3 site in the fibrinogen beta promoter is important for IL6-induced expression, and its activity is influenced by the adjacent -148C/T polymorphism (PMID:15737987)
• analysis of the binding pattern of FOXA1 and FOXA3 and their relation to H3K4me3 in HepG2 cells (PMID:19919681)
• low caloric intake decreases the production of intracellular reactive oxygen species and suppresses endothelial cells senescence through promoting HNF3gamma binging to NOX4 promoter region and inhibiting NOX4 gene expression induced by up-regulated HNF3gamma (PMID:22659429)
• In obese subjects, FOXA3 is differentially expressed in visceral and subcutaneous adipose depots. (PMID:23798556)
• Foxa3 induces goblet cell metaplasia and inhibits innate antiviral immunity in asthma and chronic obstructive pulmonary disease. (PMID:24392884)
• Our study identified novel FOXA3 variants and mutations, assessed the adipogenic capacity of two novel missense alterations in vitro and demonstrated for the first time the associations between FOXA3 SNP rs28666870 with metabolic phenotypes in humans. (PMID:25672906)
• Hepatocyte FOXA3 protects against atherosclerosis by inducing ApoA-I and macrophage reverse cholesterol transport. (PMID:31291759)
• Opposing Roles of FoxA1 and FoxA3 in Intrahepatic Cholangiocarcinoma Progression. (PMID:32151057)
• m6A RNA methylation-mediated HNF3gamma reduction renders hepatocellular carcinoma dedifferentiation and sorafenib resistance. (PMID:33361765)
• Transcription factor FOXA3 promotes the development of Hepatoblastoma via regulating HNF1A, AFP, and ZFHX3 expression. (PMID:33368532)
• Whole-exome sequencing identifies FOXL2, FOXA2 and FOXA3 as candidate genes for monogenic congenital anomalies of the kidneys and urinary tract. (PMID:34473308)
• FOXA3 Polymorphisms Are Associated with Metabolic Parameters in Individuals with Subclinical Atherosclerosis and Healthy Controls-The GEA Mexican Study. (PMID:35625529)
• FOXA3 regulates cholesterol metabolism to compensate for low uptake during the progression of lung adenocarcinoma. (PMID:38805565)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Foxa3	ENSMUSG00000040891
rattus_norvegicus	Foxa3	ENSRNOG00000014256

Paralogs (41): FOXP3 (ENSG00000049768), FOXC1 (ENSG00000054598), FOXJ2 (ENSG00000065970), FOXF1 (ENSG00000103241), FOXN1 (ENSG00000109101), FOXM1 (ENSG00000111206), FOXP1 (ENSG00000114861), FOXO3 (ENSG00000118689), FOXA2 (ENSG00000125798), FOXA1 (ENSG00000129514), FOXJ1 (ENSG00000129654), FOXK2 (ENSG00000141568), FOXO1 (ENSG00000150907), FOXH1 (ENSG00000160973), FOXQ1 (ENSG00000164379), FOXK1 (ENSG00000164916), FOXD4 (ENSG00000170122), FOXB1 (ENSG00000171956), FOXR1 (ENSG00000176302), FOXL1 (ENSG00000176678), FOXC2 (ENSG00000176692), FOXE1 (ENSG00000178919), FOXS1 (ENSG00000179772), FOXL2 (ENSG00000183770), FOXO4 (ENSG00000184481), FOXD4L1 (ENSG00000184492), FOXD4L4 (ENSG00000184659), FOXD2 (ENSG00000186564), FOXI2 (ENSG00000186766), FOXE3 (ENSG00000186790), FOXD3 (ENSG00000187140), FOXD4L3 (ENSG00000187559), FOXR2 (ENSG00000189299), FOXJ3 (ENSG00000198815), FOXO6 (ENSG00000204060), FOXB2 (ENSG00000204612), FOXD4L5 (ENSG00000204779), FOXI3 (ENSG00000214336), FOXL3 (ENSG00000248767), FOXD1 (ENSG00000251493)

Protein

Protein identifiers

Hepatocyte nuclear factor 3-gamma — P55318 (reviewed: P55318)

Alternative names: Fork head-related protein FKH H3, Forkhead box protein A3, Transcription factor 3G

All UniProt accessions (2): P55318, M0QZW5

UniProt curated annotations — full annotation on UniProt →

Function. Transcription factor that is thought to act as a ‘pioneer’ factor opening the compacted chromatin for other proteins through interactions with nucleosomal core histones and thereby replacing linker histones at target enhancer and/or promoter sites. Originally described as a transcription activator for a number of liver genes such as AFP, albumin, tyrosine aminotransferase, PEPCK, etc. Interacts with the cis-acting regulatory regions of these genes. Involved in glucose homeostasis; binds to and activates transcription from the G6PC1 promoter. Binds to the CYP3A4 promoter and activates its transcription in cooperation with CEBPA. Binds to the CYP3A7 promoter together with members of the CTF/NF-I family. Involved in regulation of neuronal-specific transcription. May be involved in regulation of spermatogenesis.

Subunit / interactions. Interacts with FOXA2.

Subcellular location. Nucleus.

Tissue specificity. Expressed in erythroleukemia and hepatoma cell lines and in liver and pancreas. Not expressed in any other cell lines or tissues examined.

RefSeq proteins (1): NP_004488* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001766	Fork_head_dom	Domain
IPR013638	Fork-head_N	Domain
IPR018122	TF_fork_head_CS_1	Conserved_site
IPR030456	TF_fork_head_CS_2	Conserved_site
IPR036388	WH-like_DNA-bd_sf	Homologous_superfamily
IPR036390	WH_DNA-bd_sf	Homologous_superfamily
IPR047366	FH_FOXA3	Domain
IPR050211	FOX_domain-containing	Family

Pfam: PF00250, PF08430

UniProt features (22 total): sequence conflict 8, helix 5, strand 3, compositionally biased region 2, chain 1, DNA-binding region 1, region of interest 1, sequence variant 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
1VTN	X-RAY DIFFRACTION	2.5

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P55318-F1	63.54	0.24

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-210745	Regulation of gene expression in beta cells

MSigDB gene sets: 132 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_DN, PID_HNF3B_PATHWAY, GOBP_MALE_GAMETE_GENERATION, GGAMTNNNNNTCCY_UNKNOWN, COUP_01, NFKB_C, UEDA_PERIFERAL_CLOCK, HNF4_DR1_Q3, GOBP_INTRACELLULAR_GLUCOSE_HOMEOSTASIS, SANSOM_APC_TARGETS_UP, GOBP_CARBOHYDRATE_HOMEOSTASIS, GOBP_CELLULAR_RESPONSE_TO_STARVATION, GATA2_01, GOBP_MULTICELLULAR_ORGANISMAL_LEVEL_HOMEOSTASIS, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION

GO Biological Process (11): intracellular glucose homeostasis (GO:0001678), chromatin organization (GO:0006325), regulation of transcription by RNA polymerase II (GO:0006357), transcription by RNA polymerase II (GO:0006366), spermatogenesis (GO:0007283), cellular response to starvation (GO:0009267), anatomical structure morphogenesis (GO:0009653), cell differentiation (GO:0030154), positive regulation of transcription by RNA polymerase II (GO:0045944), hematopoietic stem cell homeostasis (GO:0061484), regulation of DNA-templated transcription (GO:0006355)

GO Molecular Function (10): transcription cis-regulatory region binding (GO:0000976), RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription factor activity (GO:0003700), protein domain specific binding (GO:0019904), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677), protein binding (GO:0005515), transcription factor binding (GO:0008134), sequence-specific DNA binding (GO:0043565)

GO Cellular Component (4): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), actin cytoskeleton (GO:0015629)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Regulation of beta-cell development	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of DNA-templated transcription	2
transcription by RNA polymerase II	2
DNA-templated transcription	2
regulation of transcription by RNA polymerase II	2
RNA polymerase II transcription regulatory region sequence-specific DNA binding	2
protein binding	2
cellular anatomical structure	2
glucose homeostasis	1
intracellular chemical homeostasis	1
cellular component organization	1
developmental process involved in reproduction	1
male gamete generation	1
cellular response to nutrient levels	1
cellular response to stress	1
response to starvation	1
developmental process	1
anatomical structure development	1
cellular developmental process	1
positive regulation of DNA-templated transcription	1
homeostasis of number of cells	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
transcription regulatory region nucleic acid binding	1
sequence-specific double-stranded DNA binding	1
cis-regulatory region sequence-specific DNA binding	1
chromatin	1
DNA-binding transcription factor activity	1
transcription cis-regulatory region binding	1
transcription regulator activity	1
double-stranded DNA binding	1
sequence-specific DNA binding	1
nucleic acid binding	1
binding	1
DNA binding	1
chromosome	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cytoskeleton	1

Protein interactions and networks

STRING

1198 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FOXA3	GATA4	P43694	752
FOXA3	FOXA1	P55317	750
FOXA3	TTR	P02766	704
FOXA3	HNF1A	P20823	695
FOXA3	HHEX	Q03014	660
FOXA3	SPDEF	O95238	636
FOXA3	ALB	P02768	625
FOXA3	AFP	P02771	618
FOXA3	ONECUT1	Q9UBC0	613
FOXA3	HNF4A	P41235	613
FOXA3	CEBPA	P49715	611
FOXA3	PDX1	P52945	603
FOXA3	GATA6	P78327	541
FOXA3	TFF1	P04155	529
FOXA3	TP53	P04637	507

IntAct

17 interactions, top by confidence:

A	B	Type	Score
FOXA3	CHAT	psi-mi:“MI:0915”(physical association)	0.560
FOXA3	FGFR3	psi-mi:“MI:0915”(physical association)	0.560
FOXA3	CORO1A	psi-mi:“MI:0914”(association)	0.530
FOXA3	ALX4	psi-mi:“MI:0915”(physical association)	0.370
FOXA3	TLE1	psi-mi:“MI:0915”(physical association)	0.370
FOXA3	TLE2	psi-mi:“MI:0915”(physical association)	0.370
FOXA3	PPARA	psi-mi:“MI:0915”(physical association)	0.370
FOXA3	DDX39A	psi-mi:“MI:0914”(association)	0.350
FOXA1	PLOD2	psi-mi:“MI:0914”(association)	0.350
FOXA3	P4HA1	psi-mi:“MI:0914”(association)	0.350

BioGRID (53): FOXA3 (Affinity Capture-MS), DSP (Affinity Capture-MS), ADAR (Affinity Capture-MS), DDX39A (Affinity Capture-MS), ZBTB33 (Affinity Capture-MS), HELLS (Affinity Capture-MS), HOXD13 (Affinity Capture-MS), MAP2K3 (Affinity Capture-MS), AKAP8 (Affinity Capture-MS), LMNB2 (Affinity Capture-MS), NSF (Affinity Capture-MS), SMPD4 (Affinity Capture-MS), TOMM40 (Affinity Capture-MS), TP53 (Affinity Capture-MS), ALB (Affinity Capture-MS)

ESM2 similar proteins: A0A1W2PRP0, A6NCS4, A7Y7W2, O14512, O43638, O57601, O70220, O96004, P07812, P09023, P10085, P10284, P17483, P22091, P24899, P50548, P52954, P52955, P55318, P57100, P63156, P63157, P70447, P79772, P97832, Q02346, Q05917, Q0VCE2, Q12952, Q1XID0, Q28555, Q3I5G5, Q3Y598, Q60688, Q61660, Q63244, Q63250, Q64279, Q64305, Q64731

Diamond homologs: A0A2Z4LIS9, A3RK74, A3RK75, A4L7N3, A8MYZ6, B3LYS5, B3P0K6, B4G4S8, B4HF64, B4JSC2, B4KBF6, B4MB78, B4NFR1, B4PTD3, E1BPQ1, G3V7R4, O16850, O43524, P0CG31, P23512, P32182, P32183, P32315, P33205, P33206, P35582, P35583, P35584, P55317, P55318, P84961, P98177, Q07342, Q10924, Q12778, Q28EM1, Q298W7, Q3Y598, Q4VUF1, Q63248

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	43
Likely benign	5
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

338 predictions. Top by Δscore:

Variant	Effect	Δscore
19:45864552:G:T	donor_gain	0.9900
19:45872069:CCCTA:C	acceptor_loss	0.9900
19:45872070:CCTA:C	acceptor_loss	0.9900
19:45872071:CTAG:C	acceptor_loss	0.9900
19:45872073:A:AG	acceptor_gain	0.9900
19:45872074:G:GG	acceptor_gain	0.9900
19:45864552:G:GT	donor_gain	0.9800
19:45871426:GGC:G	donor_gain	0.9800
19:45872074:GGT:G	acceptor_gain	0.9800
19:45871303:A:G	acceptor_gain	0.9700
19:45872074:GGTCT:G	acceptor_gain	0.9600
19:45872074:GGTC:G	acceptor_gain	0.9500
19:45867294:TGGGG:T	acceptor_gain	0.9400
19:45864332:GCC:G	donor_gain	0.9300
19:45864514:G:GT	donor_gain	0.9300
19:45864518:C:T	donor_gain	0.9200
19:45871302:A:AG	acceptor_gain	0.9200
19:45872384:ACCAT:A	acceptor_gain	0.9100
19:45864524:AG:A	donor_loss	0.9000
19:45864525:GG:G	donor_loss	0.9000
19:45864526:GT:G	donor_loss	0.9000
19:45864527:T:A	donor_loss	0.9000
19:45871415:A:T	donor_gain	0.9000
19:45872073:AG:A	acceptor_gain	0.9000
19:45872074:GG:G	acceptor_gain	0.9000
19:45864388:C:G	donor_gain	0.8800
19:45864563:C:T	donor_gain	0.8800
19:45867372:G:GG	donor_gain	0.8700
19:45864750:G:GT	donor_gain	0.8100
19:45867295:G:A	acceptor_gain	0.8100

AlphaMissense

2231 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:45872354:A:C	K117Q	1.000
19:45872354:A:G	K117E	1.000
19:45872355:A:T	K117M	1.000
19:45872356:G:C	K117N	1.000
19:45872356:G:T	K117N	1.000
19:45872357:C:A	P118T	1.000
19:45872357:C:T	P118S	1.000
19:45872358:C:A	P118Q	1.000
19:45872358:C:G	P118R	1.000
19:45872358:C:T	P118L	1.000
19:45872363:T:A	Y120N	1.000
19:45872363:T:C	Y120H	1.000
19:45872363:T:G	Y120D	1.000
19:45872366:T:C	S121P	1.000
19:45872367:C:A	S121Y	1.000
19:45872367:C:G	S121C	1.000
19:45872367:C:T	S121F	1.000
19:45872369:T:C	Y122H	1.000
19:45872369:T:G	Y122D	1.000
19:45872370:A:G	Y122C	1.000
19:45872372:A:T	I123F	1.000
19:45872373:T:A	I123N	1.000
19:45872373:T:C	I123T	1.000
19:45872373:T:G	I123S	1.000
19:45872375:T:C	S124P	1.000
19:45872378:C:T	L125F	1.000
19:45872379:T:A	L125H	1.000
19:45872379:T:C	L125P	1.000
19:45872379:T:G	L125R	1.000
19:45872381:A:T	I126F	1.000

dbSNP variants (sampled 300 via entrez): RS1000520326 (19:45869147 G>A), RS1000572163 (19:45866643 C>A,T), RS1000692608 (19:45863566 TTTTC>T,TTTTCTTTC), RS1000822757 (19:45866305 G>A), RS1001059435 (19:45868839 G>GTGT), RS1001163378 (19:45869354 T>G), RS1001634876 (19:45866830 T>A,C), RS1002068350 (19:45866265 T>A), RS1002077783 (19:45871796 C>T), RS1002368348 (19:45862829 G>C,T), RS1002432616 (19:45868087 G>A), RS1003133189 (19:45870872 C>G,T), RS1003283756 (19:45865253 A>G,T), RS1003338573 (19:45864776 C>G,T), RS1003789981 (19:45870562 C>T)

Disease associations

OMIM: gene MIM:602295 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

8 associations (top):

Study	Trait	p-value
GCST004624_24	Sum eosinophil basophil counts	3.000000e-15
GCST005196_240	Coronary artery disease	1.000000e-08
GCST007612_3	Chronic obstructive pulmonary disease or coronary artery disease (pleiotropy)	1.000000e-08
GCST009798_38	Asthma	2.000000e-10
GCST010042_142	Asthma	1.000000e-08
GCST010043_74	Asthma	3.000000e-12
GCST90002381_349	Eosinophil count	1.000000e-23
GCST90002382_470	Eosinophil percentage of white cells	2.000000e-15

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0004842	eosinophil count
EFO:0005090	basophil count
EFO:0007991	eosinophil percentage of leukocytes

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs16980091	FOXA3		0.00	0

CTD chemical–gene interactions

26 total (human), top 26 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	increases expression, increases methylation	2
Tetrachlorodibenzodioxin	decreases expression	2
Valproic Acid	affects expression, decreases expression	2
Cyclosporine	decreases expression, increases expression	2
Aflatoxin B1	decreases expression, increases expression	2
methyleugenol	increases expression	1
2,5,2’,5’-tetrachlorobiphenyl	affects expression	1
arsenite	decreases methylation	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
sodium arsenite	increases expression	1
3,4,5,3’,4’-pentachlorobiphenyl	affects expression	1
4-hydroxy-equilenin	increases expression	1
abrine	increases expression	1
licochalcone B	increases expression	1
jinfukang	decreases expression, affects cotreatment	1
Resveratrol	affects expression	1
Cisplatin	affects cotreatment, decreases expression	1
Copper	affects binding, decreases expression	1
Disulfiram	affects binding, decreases expression	1
N-Nitrosopyrrolidine	increases expression	1
Quercetin	decreases expression	1
Silicon Dioxide	decreases expression	1
Tobacco Smoke Pollution	affects expression	1
Triclosan	decreases expression	1
Reactive Oxygen Species	affects expression	1
Vitamin K 3	affects expression	1

Clinical trials (associated diseases)

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