FOXJ2

Summary

FOXJ2 (forkhead box J2, HGNC:24818) is a protein-coding gene on chromosome 12p13.31, encoding Forkhead box protein J2 (Q9P0K8). Transcriptional activator.

Enables DNA-binding transcription activator activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and identical protein binding activity. Involved in several processes, including negative regulation of angiogenesis; negative regulation of blood vessel endothelial cell differentiation; and positive regulation of vascular associated smooth muscle cell proliferation. Located in fibrillar center and nucleoplasm.

Source: NCBI Gene 55810 — RefSeq curated summary.

At a glance

• GWAS associations: 6
• Clinical variants (ClinVar): 87 total
• MANE Select transcript: NM_018416

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24818
Approved symbol	FOXJ2
Name	forkhead box J2
Location	12p13.31
Locus type	gene with protein product
Status	Approved
Aliases	FHX
Ensembl gene	ENSG00000065970
Ensembl biotype	protein_coding
OMIM	619162
Entrez	55810

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 8 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000162391, ENST00000428177, ENST00000539192, ENST00000897773, ENST00000919602, ENST00000919603, ENST00000963776, ENST00000963777, ENST00000963778

RefSeq mRNA: 1 — MANE Select: NM_018416 NM_018416

CCDS: CCDS8587

Canonical transcript exons

ENST00000162391 — 11 exons

Exon	Start	End
ENSE00000716966	8043701	8043769
ENSE00000716970	8043951	8044091
ENSE00000716973	8044760	8044958
ENSE00000716976	8047882	8048289
ENSE00000716978	8048697	8048798
ENSE00000716979	8049362	8049571
ENSE00000867810	8039819	8040165
ENSE00000867811	8052762	8055517
ENSE00001045772	8032716	8033833
ENSE00001740797	8042658	8042732
ENSE00003590733	8050522	8050620

Expression profiles

Bgee: expression breadth ubiquitous, 284 present calls, max score 95.86.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.3183 / max 128.4056, expressed in 1765 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
123939	8.8775	1758
123941	0.3084	141
123943	0.1324	44

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
nipple	UBERON:0002030	95.86	gold quality
saphenous vein	UBERON:0007318	95.21	gold quality
cardia of stomach	UBERON:0001162	94.00	gold quality
vena cava	UBERON:0004087	93.98	gold quality
body of tongue	UBERON:0011876	93.09	gold quality
diaphragm	UBERON:0001103	92.59	gold quality
tongue	UBERON:0001723	92.41	gold quality
superior surface of tongue	UBERON:0007371	91.91	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	91.65	gold quality
pylorus	UBERON:0001166	91.44	gold quality
pericardium	UBERON:0002407	91.38	gold quality
left ventricle myocardium	UBERON:0006566	91.26	gold quality
cartilage tissue	UBERON:0002418	90.72	gold quality
urethra	UBERON:0000057	90.38	gold quality
pharyngeal mucosa	UBERON:0000355	90.37	gold quality
mammary duct	UBERON:0001765	89.82	gold quality
synovial joint	UBERON:0002217	89.78	gold quality
cardiac muscle of right atrium	UBERON:0003379	89.70	gold quality
hair follicle	UBERON:0002073	89.68	gold quality
trachea	UBERON:0003126	89.59	gold quality
tibialis anterior	UBERON:0001385	89.57	gold quality
dorsal root ganglion	UBERON:0000044	89.38	gold quality
epithelium of mammary gland	UBERON:0003244	89.15	gold quality
cerebellar vermis	UBERON:0004720	88.98	gold quality
penis	UBERON:0000989	88.92	gold quality
trigeminal ganglion	UBERON:0001675	88.90	gold quality
quadriceps femoris	UBERON:0001377	88.74	gold quality
vastus lateralis	UBERON:0001379	88.67	gold quality
superficial temporal artery	UBERON:0001614	88.65	gold quality
gastrocnemius	UBERON:0001388	88.52	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	4.01

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

1 targets.

Target	Regulation
C4BPA	Activation

JASPAR motifs

Motif	Name	Family
MA1952.1	FOXJ2::ELF1	FOX::Ets-related
MA1952.2	FOXJ2::ELF1	FOX::Ets-related

JASPAR matrix evidence (PMIDs): PMID:31913281

miRNA regulators (miRDB)

173 targeting FOXJ2, 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-4533	100.00	69.48	2758
HSA-MIR-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-3925-3P	100.00	69.95	1237
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
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-34C-5P	99.97	70.45	1577

Literature-anchored findings (GeneRIF, showing 11)

• Study demonstrates that FOXJ2 can inhibit the metastasis of human breast cancer by regulating the EMT key markers E-cadherin and vimentin. (PMID:22441887)
• MicroRNA-34a targets FOXJ2 to modulate differentiation of endothelial progenitor cells in response to shear stress. (PMID:24792364)
• Our analysis showed significant downregulation of miRNAs, let-7b and miR-197, out of which miR-197 was predicted to target FOXJ2. (PMID:25451482)
• FoxJ2 suppressed cell migration and invasion in glioma (PMID:25661068)
• Data shows that FOXJ2 is downregulated in extrahepatic cholangiocarcinoma tissues and associates with disease progression. Its overexpression inhibits cell proliferation, migration and invasion in vitro indicating a role as tumor suppressor gene. (PMID:25873280)
• FOXJ2 is a novel and promising prognostic biomarker for HCC progression and prognosis. (PMID:27177166)
• FOXJ2 expression was down-regulated by transforming growth factor-beta1 (TGF-beta1) treated, and overexpression of FOXJ2 inhibited TGF-beta1-induced epithelial-mesenchymal transition. (PMID:27611107)
• Phosphoproteome profiling revealed the transcription factor FOXJ2 as a novel NEK6 substrate in castration resistant prostate cancer (PMID:27899381)
• The data clearly show that ARHGAP9/FOXJ2 inhibit cell migration and invasion during hepatocellular carcinoma development via inducing the transcription of CDH1. (PMID:30206221)
• Low FOXJ2 expression is associated with unfavorable postoperative prognosis of patients with epithelial ovarian cancer. (PMID:33725831)
• MicroRNA4545p promotes breast cancer progression by inducing epithelialmesenchymal transition via targeting the FoxJ2/Ecadherin axis. (PMID:33982790)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Foxj2	ENSMUSG00000003154
rattus_norvegicus	Foxj2	ENSRNOG00000009000

Paralogs (41): FOXP3 (ENSG00000049768), FOXC1 (ENSG00000054598), 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), FOXA3 (ENSG00000170608), 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

Forkhead box protein J2 — Q9P0K8 (reviewed: Q9P0K8)

Alternative names: Fork head homologous X

All UniProt accessions (1): Q9P0K8

UniProt curated annotations — full annotation on UniProt →

Function. Transcriptional activator. Able to bind to two different type of DNA binding sites. More effective than isoform FOXJ2.S in transcriptional activation. Plays an important role in spermatogenesis, especially in spermatocyte meiosis. Transcriptional activator.

Subcellular location. Nucleus.

Tissue specificity. Widely expressed.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9P0K8-1	FOXJ2.L, FHX.L	yes
Q9P0K8-2	FOXJ2.S, FHX.S

RefSeq proteins (1): NP_060886* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001766	Fork_head_dom	Domain
IPR030456	TF_fork_head_CS_2	Conserved_site
IPR036388	WH-like_DNA-bd_sf	Homologous_superfamily
IPR036390	WH_DNA-bd_sf	Homologous_superfamily
IPR045912	FOXJ2/3-like	Family
IPR047393	FH_FOXJ2	Domain

Pfam: PF00250

UniProt features (25 total): compositionally biased region 9, modified residue 6, region of interest 4, sequence variant 2, initiator methionine 1, chain 1, DNA-binding region 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9P0K8-F1	58.51	0.12

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 (6): 2, 3, 46, 161, 164, 172

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-9764790	Positive Regulation of CDH1 Gene Transcription

MSigDB gene sets: 228 (showing top): TGGTGCT_MIR29A_MIR29B_MIR29C, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_REGULATION_OF_ENDOTHELIAL_CELL_DIFFERENTIATION, GOBP_MALE_GAMETE_GENERATION, GOBP_MUSCLE_CELL_PROLIFERATION, GGGTGGRR_PAX4_03, REACTOME_ADHERENS_JUNCTIONS_INTERACTIONS, GOBP_REGULATION_OF_EPITHELIAL_CELL_DIFFERENTIATION, NFKB_C, GOBP_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS, GOBP_POSITIVE_REGULATION_OF_SMOOTH_MUSCLE_CELL_PROLIFERATION, GOBP_ORGANELLE_FISSION, RUTELLA_RESPONSE_TO_CSF2RB_AND_IL4_UP, BLALOCK_ALZHEIMERS_DISEASE_UP, HEN1_01

GO Biological Process (11): regulation of transcription by RNA polymerase II (GO:0006357), male meiosis I (GO:0007141), spermatogenesis (GO:0007283), negative regulation of angiogenesis (GO:0016525), cell differentiation (GO:0030154), positive regulation of DNA-templated transcription (GO:0045893), positive regulation of transcription by RNA polymerase II (GO:0045944), negative regulation of blood vessel endothelial cell differentiation (GO:0110059), positive regulation of vascular associated smooth muscle cell proliferation (GO:1904707), regulation of DNA-templated transcription (GO:0006355), meiotic cell cycle (GO:0051321)

GO Molecular Function (9): 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 activator activity, RNA polymerase II-specific (GO:0001228), identical protein binding (GO:0042802), sequence-specific DNA binding (GO:0043565), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677), DNA-binding transcription factor activity (GO:0003700), protein binding (GO:0005515)

GO Cellular Component (4): chromatin (GO:0000785), fibrillar center (GO:0001650), nucleus (GO:0005634), nucleoplasm (GO:0005654)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Regulation of CDH1 Gene Transcription	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of DNA-templated transcription	3
RNA polymerase II transcription regulatory region sequence-specific DNA binding	3
cellular anatomical structure	3
transcription by RNA polymerase II	2
male gamete generation	2
DNA-templated transcription	2
regulation of transcription by RNA polymerase II	2
meiosis I	1
male meiotic nuclear division	1
meiotic cell cycle	1
developmental process involved in reproduction	1
angiogenesis	1
regulation of angiogenesis	1
negative regulation of blood vessel morphogenesis	1
cellular developmental process	1
positive regulation of RNA biosynthetic process	1
positive regulation of DNA-templated transcription	1
negative regulation of endothelial cell differentiation	1
blood vessel endothelial cell differentiation	1
regulation of blood vessel endothelial cell differentiation	1
positive regulation of smooth muscle cell proliferation	1
regulation of vascular associated smooth muscle cell proliferation	1
vascular associated smooth muscle cell proliferation	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
cell cycle	1
sexual reproduction	1
reproductive process	1
meiotic nuclear division	1
cis-regulatory region sequence-specific DNA binding	1
chromatin	1
DNA-binding transcription factor activity	1
DNA-binding transcription factor activity, RNA polymerase II-specific	1
DNA-binding transcription activator activity	1
positive regulation of transcription by RNA polymerase II	1
protein binding	1
DNA binding	1
double-stranded DNA binding	1
sequence-specific DNA binding	1
nucleic acid binding	1

Protein interactions and networks

STRING

1500 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FOXJ2	POU3F2	P20265	703
FOXJ2	PAX2	Q02962	565
FOXJ2	RFX1	P22670	521
FOXJ2	PAX4	O43316	491
FOXJ2	PAX6	P26367	475
FOXJ2	FOXD3	Q9UJU5	442
FOXJ2	GATAD2B	Q8WXI9	433
FOXJ2	BCL2L1	Q07817	430
FOXJ2	PURB	Q96QR8	422
FOXJ2	FOXL1	Q12952	419
FOXJ2	BCL2L2-PABPN1	Q92843	419
FOXJ2	LHX3	Q9UBR4	407
FOXJ2	NF1	P21359	404
FOXJ2	FOXP4	Q8IVH2	400
FOXJ2	BCL9	O00512	394

IntAct

16 interactions, top by confidence:

A	B	Type	Score
FOXJ2	EGLN3	psi-mi:“MI:0915”(physical association)	0.720
EGLN3	FOXJ2	psi-mi:“MI:0915”(physical association)	0.720
FOXJ2	CSTF2T	psi-mi:“MI:0915”(physical association)	0.560
MAGEA10	POTEF	psi-mi:“MI:0914”(association)	0.530
FOXJ2	FOXJ2	psi-mi:“MI:0915”(physical association)	0.500
XCL2	FOXJ2	psi-mi:“MI:0915”(physical association)	0.370
FOXJ2	TCERG1	psi-mi:“MI:0914”(association)	0.350
MAGEA10	KANSL1L	psi-mi:“MI:0914”(association)	0.350
CSTF2T	FOXJ2	psi-mi:“MI:0915”(physical association)	0.000
EGLN3	FOXJ2	psi-mi:“MI:0915”(physical association)	0.000
rcsC	FOXJ2	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (88): EGLN3 (Two-hybrid), FOXJ2 (Affinity Capture-MS), FOXJ2 (Affinity Capture-MS), RFX1 (Affinity Capture-MS), QSER1 (Affinity Capture-MS), FOXC1 (Affinity Capture-MS), HOXD13 (Affinity Capture-MS), CHD4 (Affinity Capture-MS), RFX3 (Affinity Capture-MS), C11orf30 (Affinity Capture-MS), ADNP (Affinity Capture-MS), KDM5C (Affinity Capture-MS), ZMYM3 (Affinity Capture-MS), SMARCA5 (Affinity Capture-MS), TRPS1 (Affinity Capture-MS)

ESM2 similar proteins: A0A0K3AUE4, A0A486WWJ9, A1Z9P3, A2ICN5, A2VDZ3, B3MLB7, B3NAM7, B4JQ42, B4KFE1, B4LV24, B4MUE1, B4NXA8, O02491, O46232, O46236, O46254, P02836, P08155, P09081, P09145, P11536, P22711, P22807, P23792, P28166, P39572, P39770, P39806, P40657, P40791, P51521, Q01842, Q02078, Q02308, Q24248, Q24266, Q29KG4, Q2MJT0, Q3LHL9, Q5REW7

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

2 interactions.

A	Effect	B	Mechanism
NEK6	“up-regulates activity”	FOXJ2	phosphorylation

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	79
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1847 predictions. Top by Δscore:

Variant	Effect	Δscore
12:8032874:G:GT	donor_gain	1.0000
12:8032961:G:GT	donor_gain	1.0000
12:8040125:A:AG	donor_gain	1.0000
12:8042653:TCCAG:T	acceptor_loss	1.0000
12:8042654:CCAGA:C	acceptor_loss	1.0000
12:8042655:CA:C	acceptor_loss	1.0000
12:8042656:A:AC	acceptor_loss	1.0000
12:8042656:A:AG	acceptor_gain	1.0000
12:8042657:G:GT	acceptor_gain	1.0000
12:8042657:GA:G	acceptor_gain	1.0000
12:8042657:GAA:G	acceptor_gain	1.0000
12:8042657:GAAT:G	acceptor_gain	1.0000
12:8042657:GAATT:G	acceptor_gain	1.0000
12:8042728:GGAAG:G	donor_gain	1.0000
12:8042729:GAAG:G	donor_gain	1.0000
12:8042729:GAAGG:G	donor_gain	1.0000
12:8042733:G:GG	donor_gain	1.0000
12:8043679:T:TA	acceptor_gain	1.0000
12:8043680:G:A	acceptor_gain	1.0000
12:8043941:C:G	acceptor_gain	1.0000
12:8043942:A:AG	acceptor_gain	1.0000
12:8043943:A:G	acceptor_gain	1.0000
12:8043950:GCT:G	acceptor_gain	1.0000
12:8044087:GCCAG:G	donor_gain	1.0000
12:8044088:CCAGG:C	donor_loss	1.0000
12:8044089:CAG:C	donor_loss	1.0000
12:8044090:AGG:A	donor_loss	1.0000
12:8044755:TGCA:T	acceptor_loss	1.0000
12:8044756:GCAG:G	acceptor_loss	1.0000
12:8044757:CA:C	acceptor_loss	1.0000

AlphaMissense

3757 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:8039858:T:A	L9H	1.000
12:8039858:T:C	L9P	1.000
12:8039872:T:A	W14R	1.000
12:8039872:T:C	W14R	1.000
12:8039874:G:C	W14C	1.000
12:8039874:G:T	W14C	1.000
12:8039876:T:C	L15P	1.000
12:8040028:A:G	K66E	1.000
12:8040030:G:C	K66N	1.000
12:8040030:G:T	K66N	1.000
12:8040031:C:A	P67T	1.000
12:8040031:C:T	P67S	1.000
12:8040032:C:A	P67Q	1.000
12:8040032:C:G	P67R	1.000
12:8040040:A:C	S70R	1.000
12:8040041:G:T	S70I	1.000
12:8040042:C:A	S70R	1.000
12:8040042:C:G	S70R	1.000
12:8040043:T:C	Y71H	1.000
12:8040043:T:G	Y71D	1.000
12:8040044:A:G	Y71C	1.000
12:8040046:G:C	A72P	1.000
12:8040047:C:A	A72D	1.000
12:8040052:C:T	L74F	1.000
12:8040053:T:A	L74H	1.000
12:8040053:T:C	L74P	1.000
12:8040053:T:G	L74R	1.000
12:8040055:A:T	I75F	1.000
12:8040056:T:A	I75N	1.000
12:8040056:T:C	I75T	1.000

dbSNP variants (sampled 300 via entrez): RS1000085491 (12:8034751 C>G), RS1000118499 (12:8034466 G>A), RS1000292358 (12:8043715 A>G), RS1000392816 (12:8051224 G>T), RS1000445085 (12:8050614 C>A,T), RS1000526223 (12:8046258 A>G), RS1000593863 (12:8031774 G>T), RS1000685394 (12:8044210 G>A,C), RS1000725273 (12:8045919 A>G), RS1000740911 (12:8031263 G>A), RS1001069260 (12:8039722 G>A), RS1001074833 (12:8052937 C>A,T), RS1001089777 (12:8031542 A>C,G), RS1001163068 (12:8051928 G>A), RS1001344986 (12:8035602 C>T)

Disease associations

OMIM: gene MIM:619162 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST004608_175	Granulocyte percentage of myeloid white cells	4.000000e-09
GCST90002394_361	Monocyte percentage of white cells	1.000000e-12
GCST90002396_517	Mean reticulocyte volume	7.000000e-17
GCST90002397_416	Mean spheric corpuscular volume	1.000000e-12
GCST90002398_138	Neutrophil count	7.000000e-11
GCST90002399_328	Neutrophil percentage of white cells	2.000000e-11

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0007997	granulocyte percentage of myeloid white cells
EFO:0007989	monocyte percentage of leukocytes
EFO:0010701	mean reticulocyte volume
EFO:0004833	neutrophil count
EFO:0007990	neutrophil percentage of leukocytes

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Cisplatin	decreases expression, increases expression	2
GSK-J4	increases expression	1
dicrotophos	increases expression	1
bisphenol A	decreases methylation	1
arsenite	affects binding, decreases reaction	1
sodium arsenite	increases expression	1
butyraldehyde	decreases expression	1
perfluorooctanoic acid	increases expression	1
aflatoxin B2	increases methylation	1
isobutyl alcohol	affects cotreatment, decreases expression, increases abundance	1
beta-methylcholine	affects expression	1
pentanal	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
Resveratrol	affects cotreatment, decreases expression	1
Adenine	decreases expression	1
Cadmium	decreases expression, increases abundance	1
Caffeine	increases phosphorylation	1
Colchicine	decreases expression	1
Diethylhexyl Phthalate	increases expression	1
Doxorubicin	decreases expression	1
Ethyl Methanesulfonate	decreases expression	1
Etoposide	decreases expression	1
Gasoline	affects cotreatment, decreases expression, increases abundance	1
Hydroxyurea	decreases expression	1
Phthalic Acids	increases methylation	1
Plant Extracts	affects cotreatment, decreases expression	1
Polycyclic Aromatic Hydrocarbons	decreases expression, increases abundance, affects cotreatment	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Tretinoin	increases expression	1

Cellosaurus cell lines

4 cell lines: 3 embryonic stem cell, 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_A2A9	SEES3-1V human FOXJ2, clone1	Embryonic stem cell	Male
CVCL_A2B0	SEES3-1V human FOXJ2, clone2	Embryonic stem cell	Male
CVCL_A2B1	SEES3-1V human FOXJ2, clone3	Embryonic stem cell	Male
CVCL_GZ85	K562 eGFP-FOXJ2	Cancer cell line	Female

Clinical trials (associated diseases)

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