FOXD2

Summary

FOXD2 (forkhead box D2, HGNC:3803) is a protein-coding gene on chromosome 1p33, encoding Forkhead box protein D2 (O60548). Probable transcription factor involved in embryogenesis and somatogenesis.

This gene belongs to the forkhead family of transcription factors which is characterized by a distinct forkhead domain. The specific function of this gene has not yet been determined.

Source: NCBI Gene 2306 — RefSeq curated summary.

At a glance

• GWAS associations: 26
• Clinical variants (ClinVar): 92 total — 1 pathogenic, 1 likely-pathogenic
• MANE Select transcript: NM_004474

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:3803
Approved symbol	FOXD2
Name	forkhead box D2
Location	1p33
Locus type	gene with protein product
Status	Approved
Aliases	FREAC9
Ensembl gene	ENSG00000186564
Ensembl biotype	protein_coding
OMIM	602211
Entrez	2306

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000334793

RefSeq mRNA: 1 — MANE Select: NM_004474 NM_004474

CCDS: CCDS30708

Canonical transcript exons

ENST00000334793 — 1 exons

Exon	Start	End
ENSE00001339047	47438044	47440691

Expression profiles

Bgee: expression breadth ubiquitous, 137 present calls, max score 87.29.

FANTOM5 (CAGE): breadth broad, TPM avg 1.4522 / max 48.8761, expressed in 696 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
2781	0.7406	368
201503	0.5875	300
2782	0.1240	43

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
mucosa of transverse colon	UBERON:0004991	87.29	gold quality
tibial nerve	UBERON:0001323	77.33	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	76.49	gold quality
descending thoracic aorta	UBERON:0002345	73.80	gold quality
sural nerve	UBERON:0015488	72.25	gold quality
rectum	UBERON:0001052	72.01	gold quality
thoracic aorta	UBERON:0001515	71.73	gold quality
ascending aorta	UBERON:0001496	71.54	gold quality
transverse colon	UBERON:0001157	70.76	gold quality
aorta	UBERON:0000947	69.82	gold quality
popliteal artery	UBERON:0002250	68.69	gold quality
tibial artery	UBERON:0007610	68.65	gold quality
pancreatic ductal cell	CL:0002079	68.23	silver quality
stromal cell of endometrium	CL:0002255	65.11	gold quality
right coronary artery	UBERON:0001625	63.58	gold quality
left coronary artery	UBERON:0001626	63.20	gold quality
granulocyte	CL:0000094	62.21	gold quality
endocervix	UBERON:0000458	62.03	gold quality
coronary artery	UBERON:0001621	61.98	gold quality
adult mammalian kidney	UBERON:0000082	60.99	gold quality
mucosa of sigmoid colon	UBERON:0004993	60.33	silver quality
metanephros cortex	UBERON:0010533	60.21	gold quality
colonic epithelium	UBERON:0000397	58.81	silver quality
colon	UBERON:0001155	58.60	gold quality
colonic mucosa	UBERON:0000317	58.54	gold quality
left adrenal gland	UBERON:0001234	58.49	gold quality
right adrenal gland	UBERON:0001233	58.24	gold quality
large intestine	UBERON:0000059	58.23	gold quality
left adrenal gland cortex	UBERON:0035825	57.52	gold quality
adenohypophysis	UBERON:0002196	57.08	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.45

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

5 targets.

Target	Regulation
ADRA1B
AR
GNAS
NF1
PRKAR1A	Activation

JASPAR motifs

Motif	Name	Family
MA0847.1	FOXD2	FOX
MA0847.2	FOXD2	FOX
MA0847.3	FOXD2	FOX
MA0847.4	FOXD2	FOX

JASPAR matrix evidence (PMIDs): PMID:7739038, PMID:28520732

miRNA regulators (miRDB)

53 targeting FOXD2, 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-4713-3P	100.00	65.92	505
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-2110	99.96	66.68	1930
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-545-3P	99.95	70.74	2783
HSA-MIR-374A-5P	99.90	71.34	2923
HSA-MIR-374B-5P	99.90	69.98	2734
HSA-MIR-4271	99.88	68.32	2244
HSA-MIR-3941	99.86	70.54	2735
HSA-MIR-4503	99.85	71.45	1869
HSA-MIR-6875-3P	99.82	70.26	2983
HSA-MIR-3121-3P	99.82	71.96	3630
HSA-MIR-6739-5P	99.80	67.87	2806
HSA-MIR-4659A-3P	99.80	72.62	4248
HSA-MIR-4659B-3P	99.80	72.62	4248
HSA-MIR-4668-5P	99.79	70.58	3782
HSA-MIR-4319	99.76	69.83	2586
HSA-MIR-6733-5P	99.74	67.94	2759
HSA-MIR-3714	99.71	70.74	2671
HSA-MIR-4729	99.69	72.18	4233
HSA-MIR-4516	99.61	67.78	3390
HSA-MIR-3153	99.55	67.59	2337
HSA-MIR-3120-3P	99.54	70.28	2669
HSA-MIR-302B-5P	99.50	69.49	1857
HSA-MIR-302D-5P	99.50	69.34	1863
HSA-MIR-4672	99.50	71.58	2893

Literature-anchored findings (GeneRIF, showing 5)

• FOXD2 is a physiological regulator which increases cAMP sensitivity and sets the threshold for cAMP-mediated negative modulation of T cell activation (PMID:12621056)
• identified transcription factors FOXD2 and GABP that bind to specific elements in the promoter of the RhitH gene (PMID:22306510)
• Long noncoding RNA FOXD2AS1 regulates the tumorigenesis and progression of breast cancer via the S100 calcium binding protein A1/Hippo signaling pathway. (PMID:32945354)
• The potential roles of lncRNAs DUXAP8, LINC00963, and FOXD2-AS1 in luminal breast cancer based on expression analysis and bioinformatic approaches. (PMID:34043149)
• Forkhead box protein D2 suppresses colorectal cancer by reprogramming enhancer interactions. (PMID:37158258)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
mus_musculus	Foxd2	ENSMUSG00000055210
rattus_norvegicus	Foxd2	ENSRNOG00000007759
drosophila_melanogaster	fd59A	FBGN0004896

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), FOXA3 (ENSG00000170608), FOXB1 (ENSG00000171956), FOXR1 (ENSG00000176302), FOXL1 (ENSG00000176678), FOXC2 (ENSG00000176692), FOXE1 (ENSG00000178919), FOXS1 (ENSG00000179772), FOXL2 (ENSG00000183770), FOXO4 (ENSG00000184481), FOXD4L1 (ENSG00000184492), FOXD4L4 (ENSG00000184659), 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 D2 — O60548 (reviewed: O60548)

Alternative names: Forkhead-related protein FKHL17, Forkhead-related transcription factor 9

All UniProt accessions (1): O60548

UniProt curated annotations — full annotation on UniProt →

Function. Probable transcription factor involved in embryogenesis and somatogenesis.

Subcellular location. Nucleus.

Tissue specificity. Kidney specific.

RefSeq proteins (1): NP_004465* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001766	Fork_head_dom	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
IPR050211	FOX_domain-containing	Family

Pfam: PF00250

UniProt features (14 total): compositionally biased region 6, region of interest 3, chain 1, DNA-binding region 1, modified residue 1, sequence variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O60548-F1	55.97	0.15

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 (1): 96

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 82 (showing top): BENPORATH_ES_WITH_H3K27ME3, NFKB_Q6, NFKB_C, MODULE_99, MODULE_98, AML1_01, HAMAI_APOPTOSIS_VIA_TRAIL_DN, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, MEISSNER_BRAIN_HCP_WITH_H3K27ME3, HSF1_01, GOBP_POSITIVE_REGULATION_OF_TRANSCRIPTION_BY_RNA_POLYMERASE_II, TAYLOR_METHYLATED_IN_ACUTE_LYMPHOBLASTIC_LEUKEMIA, GOMF_DNA_BINDING_TRANSCRIPTION_ACTIVATOR_ACTIVITY, EIF4E_UP, IL21_UP.V1_UP

GO Biological Process (5): regulation of transcription by RNA polymerase II (GO:0006357), anatomical structure morphogenesis (GO:0009653), cell differentiation (GO:0030154), positive regulation of transcription by RNA polymerase II (GO:0045944), regulation of DNA-templated transcription (GO:0006355)

GO Molecular Function (8): 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), DNA-binding transcription factor activity (GO:0003700), sequence-specific DNA binding (GO:0043565), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677), protein binding (GO:0005515)

GO Cellular Component (2): chromatin (GO:0000785), nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
RNA polymerase II transcription regulatory region sequence-specific DNA binding	3
regulation of DNA-templated transcription	2
transcription by RNA polymerase II	2
regulation of transcription by RNA polymerase II	2
developmental process	1
anatomical structure development	1
cellular developmental process	1
positive regulation of DNA-templated transcription	1
DNA-templated transcription	1
regulation of gene expression	1
regulation of RNA biosynthetic process	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
transcription cis-regulatory region binding	1
transcription regulator activity	1
DNA binding	1
double-stranded DNA binding	1
sequence-specific DNA binding	1
nucleic acid binding	1
binding	1
chromosome	1
cellular anatomical structure	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

758 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FOXD2	SETDB1	Q15047	486
FOXD2	SETDB2	Q96T68	461
FOXD2	SUV39H2	Q9H5I1	458
FOXD2	SUV39H1	O43463	453
FOXD2	FOXC2	Q99958	451
FOXD2	NFATC2	Q13469	372
FOXD2	FOSL1	P15407	358
FOXD2	KIAA1755	Q5JYT7	348
FOXD2	RANBP3L	Q86VV4	339
FOXD2	OR4N5	Q8IXE1	321
FOXD2	FOXR2	Q6PJQ5	318
FOXD2	OR51G1	Q8NGK1	316
FOXD2	MISP3	Q96FF7	315
FOXD2	KLK9	Q9UKQ9	294
FOXD2	MEIS1	O00470	291

IntAct

64 interactions, top by confidence:

A	B	Type	Score
KRTAP6-3	FOXD2	psi-mi:“MI:0915”(physical association)	0.560
FOXD2	TLE5	psi-mi:“MI:0915”(physical association)	0.560
CYSRT1	FOXD2	psi-mi:“MI:0915”(physical association)	0.560
CADPS	FOXD2	psi-mi:“MI:0915”(physical association)	0.560
FOXD2	FOXH1	psi-mi:“MI:0915”(physical association)	0.560
FOXD2	MAGED1	psi-mi:“MI:0915”(physical association)	0.560
FOXD2	POU2AF1	psi-mi:“MI:0915”(physical association)	0.560
NOTO	FOXD2	psi-mi:“MI:0915”(physical association)	0.560
FOXD2	KRTAP3-2	psi-mi:“MI:0915”(physical association)	0.560
FOXD2	ARID5A	psi-mi:“MI:0915”(physical association)	0.560
FOXD2	KRTAP6-2	psi-mi:“MI:0915”(physical association)	0.560
FOXD2	SPMIP9	psi-mi:“MI:0915”(physical association)	0.560
FOXD2	KRTAP15-1	psi-mi:“MI:0915”(physical association)	0.560
FOXD2	KRTAP8-1	psi-mi:“MI:0915”(physical association)	0.560
FOXD2	KRTAP21-2	psi-mi:“MI:0915”(physical association)	0.560
FOXD2	KRTAP19-7	psi-mi:“MI:0915”(physical association)	0.560
	FOXD2	psi-mi:“MI:0915”(physical association)	0.560
FOXD2	KRTAP19-2	psi-mi:“MI:0915”(physical association)	0.560
CGRRF1	B4GALT3	psi-mi:“MI:0914”(association)	0.530
FOXD4	PDHX	psi-mi:“MI:0914”(association)	0.530
FOXD4		psi-mi:“MI:0914”(association)	0.350
FOXD4L6	ANKRD28	psi-mi:“MI:0914”(association)	0.350
CGRRF1	TMEM131L	psi-mi:“MI:0914”(association)	0.350
MAGEA8	METTL15	psi-mi:“MI:0914”(association)	0.350
PPP2R2B	A2ML1	psi-mi:“MI:0914”(association)	0.350
KLHL22	TRAV18	psi-mi:“MI:0914”(association)	0.350
FOXD2	KRTAP6-3	psi-mi:“MI:0915”(physical association)	0.000
FOXD2	TLE5	psi-mi:“MI:0915”(physical association)	0.000
FOXD2	POU2AF1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (38): FOXD2 (Affinity Capture-MS), FOXD2 (Affinity Capture-MS), FOXD2 (Affinity Capture-MS), FOXD2 (Affinity Capture-MS), FOXD2 (Affinity Capture-MS), FOXD2 (Two-hybrid), FOXD2 (Two-hybrid), FOXD2 (Two-hybrid), FOXD2 (Two-hybrid), FOXD2 (Two-hybrid), FOXD2 (Two-hybrid), FOXD2 (Two-hybrid), KRTAP22-1 (Two-hybrid), KRTAP6-2 (Two-hybrid), KRTAP19-2 (Two-hybrid)

ESM2 similar proteins: A0A1B0GUA5, A0A286YF58, A0A494C0N9, A0A494C0Y3, A0A7I2V3R4, A0JNN8, A2ARS0, A2VDX9, A5PJP1, A6NGB7, A8MVW0, C9JTQ0, O14511, O14559, O35392, O35569, O43541, O60548, O70220, P0DPE3, Q08102, Q14V87, Q19A40, Q29RK8, Q2HJ59, Q3TYP4, Q5BLP8, Q5T442, Q63244, Q6F5E0, Q6QNY0, Q6VUP9, Q80WY3, Q80XF7, Q8BQU6, Q8K025, Q8K071, Q8TD94, Q8WY41, Q8WZ71

Diamond homologs: A0A1W2PRP0, A0A8V0YY16, A3KNJ3, A8MTJ6, B5RHS5, D3Z120, O00358, O35392, O43638, O60548, O88470, P32027, P32030, P35583, P55316, P56260, P58012, P79772, Q00939, Q02360, Q02361, Q12948, Q12950, Q12951, Q12952, Q13461, Q16676, Q18694, Q1A1A1, Q1A1A2, Q1A1A3, Q1A1A4, Q1A1A5, Q1A1A6, Q28D67, Q28HT3, Q32NP8, Q3I5G5, Q3SYB3, Q4VUF1

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
FOXD2	“up-regulates quantity by expression”	PRKAR1A	“transcriptional regulation”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 30 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
Keratinization	8	27.9×	5e-09

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	1
Uncertain significance	81
Likely benign	6
Benign	1

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
4072394	NM_004474.4(FOXD2):c.789dup (p.Gly264fs)	Pathogenic
2628375	NM_004474.4(FOXD2):c.628A>G (p.Met210Val)	Likely pathogenic

SpliceAI

26 predictions. Top by Δscore:

Variant	Effect	Δscore
1:47440136:T:A	acceptor_gain	0.9500
1:47440133:T:A	acceptor_gain	0.9200
1:47440207:TG:T	donor_gain	0.5300
1:47439702:G:GT	donor_gain	0.5200
1:47440141:TCCA:T	acceptor_gain	0.5100
1:47440144:A:AC	acceptor_gain	0.4700
1:47440145:A:G	acceptor_gain	0.4400
1:47440520:G:T	acceptor_gain	0.4400
1:47439327:G:GA	donor_gain	0.4200
1:47440208:GA:G	donor_gain	0.3700
1:47440209:AA:A	donor_gain	0.3700
1:47439326:T:TA	donor_gain	0.3000
1:47440262:G:GT	donor_gain	0.2700
1:47440525:GC:G	acceptor_gain	0.2600
1:47440143:CA:C	acceptor_gain	0.2500
1:47440144:A:AG	acceptor_gain	0.2500
1:47440146:GGAA:G	acceptor_gain	0.2400
1:47440524:A:AG	acceptor_gain	0.2400
1:47440525:G:GG	acceptor_gain	0.2400
1:47439645:T:G	donor_gain	0.2100
1:47439791:GAC:G	donor_gain	0.2100
1:47438549:G:GT	acceptor_gain	0.2000
1:47438550:G:T	acceptor_gain	0.2000
1:47439790:GGAC:G	donor_gain	0.2000
1:47440105:TC:T	acceptor_gain	0.2000
1:47440144:AAG:A	acceptor_gain	0.2000

AlphaMissense

3128 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:47438514:A:G	K127E	1.000
1:47438516:G:C	K127N	1.000
1:47438516:G:T	K127N	1.000
1:47438517:C:A	P128T	1.000
1:47438517:C:T	P128S	1.000
1:47438518:C:A	P128Q	1.000
1:47438518:C:G	P128R	1.000
1:47438518:C:T	P128L	1.000
1:47438521:C:A	P129H	1.000
1:47438523:T:C	Y130H	1.000
1:47438523:T:G	Y130D	1.000
1:47438526:T:C	S131P	1.000
1:47438527:C:G	S131W	1.000
1:47438527:C:T	S131L	1.000
1:47438529:T:C	Y132H	1.000
1:47438530:A:G	Y132C	1.000
1:47438533:T:A	I133N	1.000
1:47438533:T:C	I133T	1.000
1:47438533:T:G	I133S	1.000
1:47438536:C:A	A134E	1.000
1:47438536:C:T	A134V	1.000
1:47438538:C:T	L135F	1.000
1:47438539:T:A	L135H	1.000
1:47438539:T:C	L135P	1.000
1:47438539:T:G	L135R	1.000
1:47438541:A:T	I136F	1.000
1:47438542:T:A	I136N	1.000
1:47438542:T:G	I136S	1.000
1:47438545:C:T	T137I	1.000
1:47438548:T:C	M138T	1.000

dbSNP variants (sampled 300 via entrez): RS1000589236 (1:47440217 G>A,T), RS1001482835 (1:47439989 A>G), RS1002347704 (1:47436809 T>G), RS1002592811 (1:47437099 A>G), RS1003225828 (1:47439826 CG>C), RS1003489479 (1:47436887 G>C), RS1004257536 (1:47441040 T>C), RS1004995108 (1:47439686 T>A), RS1005849071 (1:47438375 C>G,T), RS1005970122 (1:47438290 T>C), RS1006543771 (1:47436064 G>C,T), RS1006595640 (1:47436482 G>A,C), RS1007925527 (1:47437209 G>A), RS1008029479 (1:47440915 T>A), RS1008227888 (1:47440579 C>G)

Disease associations

OMIM: gene MIM:602211 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): nephrotic syndrome (MONDO:0005377)

Orphanet (0):

HPO phenotypes

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

GWAS associations

26 associations (top):

Study	Trait	p-value
GCST001308_1	Response to anti-depressant treatment in major depressive disorder	4.000000e-07
GCST001762_96	Obesity-related traits	9.000000e-06
GCST005116_5	Male-pattern baldness	7.000000e-12
GCST006463_1	Urinary albumin excretion (no hypertensive medication)	3.000000e-13
GCST006586_43	Urinary albumin excretion	1.000000e-19
GCST007718_11	Urinary albumin-to-creatinine ratio	1.000000e-13
GCST008058_245	Estimated glomerular filtration rate	3.000000e-13
GCST008059_157	Estimated glomerular filtration rate	5.000000e-11
GCST008790_2	Urinary albumin-to-creatinine ratio	1.000000e-28
GCST008791_3	Microalbuminuria	3.000000e-16
GCST008792_2	Urinary albumin-to-creatinine ratio in diabetes	4.000000e-09
GCST008794_16	Urinary albumin-to-creatinine ratio	4.000000e-16
GCST008794_42	Urinary albumin-to-creatinine ratio	1.000000e-27
GCST009366_7	LDL cholesterol levels x long total sleep time interaction (2df test)	3.000000e-08
GCST009640_29	Urinary albumin-to-creatinine ratio	6.000000e-27
GCST010696_1	Cortical thickness (min-P)	7.000000e-09
GCST010697_11	Cortical surface area (min-P)	3.000000e-10
GCST010698_70	Subcortical volume (min-P)	1.000000e-14
GCST010699_77	Brain morphology (min-P)	4.000000e-17
GCST010700_17	Cortical thickness (MOSTest)	4.000000e-12
GCST010701_126	Cortical surface area (MOSTest)	1.000000e-10
GCST010702_41	Subcortical volume (MOSTest)	2.000000e-10
GCST010703_86	Brain morphology (MOSTest)	2.000000e-103
GCST011387_1	Vaginal microbiome composition (L. iners)	7.000000e-07
GCST011616_24	Cortical volume	8.000000e-10
GCST011616_55	Cortical volume	4.000000e-11

EFO canonical traits (7, from GWAS)

EFO ID	Trait name
EFO:0006320	antidepressant-induced side effect
EFO:0004611	low density lipoprotein cholesterol measurement
EFO:0004285	albuminuria
EFO:0007778	urinary albumin to creatinine ratio
EFO:0004346	neuroimaging measurement
EFO:0004840	cortical thickness
EFO:0011013	vaginal microbiome measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D009404	Nephrotic Syndrome	C12.050.351.968.419.630.643; C12.200.777.419.630.643; C12.950.419.630.643

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

25 total (human), top 25 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	increases expression, increases methylation	2
Cisplatin	affects expression, affects cotreatment, increases expression	2
Valproic Acid	increases expression, increases methylation	2
triphenyl phosphate	affects expression	1
arsenite	increases methylation	1
bisphenol S	decreases methylation	1
jinfukang	affects cotreatment, increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Decitabine	affects expression	1
Leflunomide	decreases expression	1
Estradiol	decreases expression	1
Hydrogen Peroxide	affects expression	1
Plant Extracts	decreases expression, affects cotreatment	1
Silicon Dioxide	decreases expression	1
Smoke	decreases expression	1
Thiram	decreases expression	1
Tobacco Smoke Pollution	affects expression	1
Tunicamycin	decreases expression	1
Asbestos, Serpentine	decreases methylation	1
Asbestos, Crocidolite	decreases methylation	1
Asbestos, Amosite	decreases methylation	1
Antirheumatic Agents	decreases expression	1
Thapsigargin	decreases expression	1
Copper Sulfate	decreases expression	1
Vitamin K 3	affects expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00308321	PHASE4	UNKNOWN	Long Term Tapering or Standard Steroids for Nephrotic Syndrome
NCT01021540	PHASE4	COMPLETED	Prospective Study Evaluating the Effect of Repository Corticotropin in the Treatment of Various Nephrotic Syndromes
NCT01028287	PHASE4	COMPLETED	Adrenocorticotropic Hormone (ACTH) Treatment of Nephrotic Range Proteinuria in Diabetic Nephropathy (NRDN)
NCT01162005	PHASE4	COMPLETED	Therapeutic Effect of Tacrolimus on Primary Nephrotic Syndrome in Children
NCT01895894	PHASE4	COMPLETED	Mycophenolate Mofetil in Pediatric Steroid Dependent Nephrotic Syndrome
NCT02238418	PHASE4	COMPLETED	Efficacy of Usual Vitamin D Supplementation and Its Impact on Children and Adolescents Calciuria.
NCT02382575	PHASE4	UNKNOWN	Efficacy and Safety of Rituximab to That of Calcineurin Inhibitors in Children With Steroid Resistant Nephrotic Syndrome
NCT02427880	PHASE4	COMPLETED	Role of Acetazolamide and Hydrochlorothiazide Followed by Furosemide in Treating Nephrotic Edema
NCT03210688	PHASE4	COMPLETED	Active Vitamin D And Reduced Dose Prednisolone for Treatment in Minimal Change Nephropathy
NCT03347357	PHASE4	COMPLETED	Pharmacokinetics of Tacrolimus in Children
NCT05696977	PHASE4	UNKNOWN	Effect of Obesity on Cyclosporine Blood Trough Level in Nephrotic Syndrome Patients
NCT05966818	PHASE4	UNKNOWN	Effect of Dapagliflozin in Non-Diabetic Patients With Nephrotic Syndrome.
NCT06026787	PHASE4	COMPLETED	Clinical Value of Adding Dapagliflozin in Patients With Nephrotic Syndrome
NCT00354731	PHASE3	COMPLETED	Efficacy of Pentoxifylline on Primary Nephrotic Syndrome
NCT00615667	PHASE3	COMPLETED	Prospective, Multicenter Study of the Efficacy and Tolerance of Tacrolimus on Refractory Nephrotic Syndrome (RNS)
NCT00981838	PHASE3	COMPLETED	Rituximab in Multirelapsing Minimal Change Disease (MCD) or Focal Segmental Glomerulosclerosis (FSGS)
NCT01197040	PHASE3	COMPLETED	Evaluation of Low Dose Corticosteroids Efficiency, Associated With Myfortic ® in the Treatment of Nephrotic Syndrome
NCT01309477	PHASE3	COMPLETED	The Efficacy and Tolerance of Tacrolimus Sustained-release Capsules on Refractory Nephrotic Syndrome (RNS)
NCT02132195	PHASE3	COMPLETED	Adrenocorticotropic Hormone (ACTH) for Frequently Relapsing and Steroid Dependent Nephrotic Syndrome
NCT02257697	PHASE3	COMPLETED	A Study to Evaluate the Efficacy and Safety of Mizoribine in the Treatment of Refractory Nephrotic Syndrome
NCT02438982	PHASE3	COMPLETED	Efficacy and Safety of Rituximab to That of Calcineurin Inhibitors in Children With Steroid Dependent Nephrotic Syndrome
NCT03141970	PHASE3	COMPLETED	Prednisolone Trial in Children Younger Than 4 Years
NCT03501459	PHASE3	UNKNOWN	Lymphocyte Markers As Predictors Of Responsiveness To Rituximab Among Patients With Idiopathic Nephrotic Syndrome
NCT05079789	PHASE3	TERMINATED	Amiloride in Nephrotic Syndrome
NCT05716880	PHASE3	RECRUITING	Ketoanalogues for Muscle Mass Loss in Nephrotic Syndrome
NCT06635720	PHASE3	ACTIVE_NOT_RECRUITING	REduced-dose Steroid PrOtocol for Childhood Nephrotic SyndromE (RESPONSE)
NCT00001212	PHASE2	COMPLETED	Drug Therapy in Lupus Nephropathy
NCT00001959	PHASE2	COMPLETED	Pirfenidone to Treat Kidney Disease (Focal Segmental Glomerulosclerosis)
NCT00004466	PHASE2	TERMINATED	Pilot Study of Atorvastatin in Children With Chronic Hyperlipidemia Secondary to Nephrotic Syndrome
NCT00004990	PHASE2	COMPLETED	Once-A-Month Steroid Treatment for Patients With Focal Segmental Glomerulosclerosis
NCT00977977	PHASE2	RECRUITING	Rituximab Plus Cyclosporine in Idiopathic Membranous Nephropathy
NCT02394106	PHASE2	TERMINATED	Ofatumumab in Children With Drug Resistant Idiopathic Nephrotic Syndrome
NCT02394119	PHASE2	COMPLETED	Ofatumumab Versus Rituximab in Children With Steroid and Calcineurin Inhibitor Dependent Idiopathic Nephrotic Syndrome
NCT02592798	PHASE2	COMPLETED	Pilot Study to Evaluate the Safety and Efficacy of Abatacept in Adults and Children 6 Years and Older With Excessive Loss of Protein in the Urine Due to Either Focal Segmental Glomerulosclerosis (FSGS) or Minimal Change Disease (MCD)
NCT02966717	PHASE2	UNKNOWN	Rituximab Combined With MSCs in the Treatment of PNS (3-4 Stage of CKD)
NCT03004001	PHASE2	TERMINATED	Effect of PCSK9-Antibody (Alirocumab) on Dyslipidemia Secondary to Nephrotic Syndrome
NCT03949855	PHASE2	RECRUITING	Belimumab With Rituximab for Primary Membranous Nephropathy
NCT05599815	PHASE2	WITHDRAWN	Part 1 - A Clinical Trial in Patients With Frequently Relapsing and Steroid-Dependent Nephrotic Syndrome
NCT05704400	PHASE2	UNKNOWN	Efficacy of Anti-CD20 Ab Associated With Anti-CD38 in the Childhood Multidrug Dependent and Resistant Nephrotic Syndrome
NCT06983028	PHASE2	RECRUITING	Atacicept in Multiple Glomerular Diseases