FUZ

Summary

FUZ (fuzzy planar cell polarity protein, HGNC:26219) is a protein-coding gene on chromosome 19q13.33, encoding Protein fuzzy homolog (Q9BT04). Probable planar cell polarity effector involved in cilium biogenesis.

This gene encodes a planar cell polarity protein that is involved in ciliogenesis and directional cell movement. Knockout studies in mice exhibit neural tube defects and defective cilia, and mutations in this gene are associated with neural tube defects in humans. Alternatively spliced transcript variants have been found for this gene.

Source: NCBI Gene 80199 — RefSeq curated summary.

At a glance

• Gene–disease (curated): ciliopathy (Strong, GenCC) — +1 more curated relationship
• Clinical variants (ClinVar): 97 total
• Phenotypes (HPO): 40
• MANE Select transcript: NM_025129

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26219
Approved symbol	FUZ
Name	fuzzy planar cell polarity protein
Location	19q13.33
Locus type	gene with protein product
Status	Approved
Aliases	FLJ22688, Fy, CPLANE3
Ensembl gene	ENSG00000010361
Ensembl biotype	protein_coding
OMIM	610622
Entrez	80199

Gene structure

Transcript identifiers

Ensembl transcripts: 32 — 19 protein_coding, 9 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined, 2 retained_intron

ENST00000313777, ENST00000377092, ENST00000525130, ENST00000525370, ENST00000525800, ENST00000526435, ENST00000526575, ENST00000527111, ENST00000527585, ENST00000527973, ENST00000528043, ENST00000528094, ENST00000529302, ENST00000529634, ENST00000531017, ENST00000533418, ENST00000534008, ENST00000534138, ENST00000881280, ENST00000881281, ENST00000881282, ENST00000881283, ENST00000881284, ENST00000939143, ENST00000939144, ENST00000939145, ENST00000939146, ENST00000939147, ENST00000939148, ENST00000939149, ENST00000956086, ENST00000956087

RefSeq mRNA: 4 — MANE Select: NM_025129 NM_001171937, NM_001352262, NM_001363663, NM_025129

CCDS: CCDS12781, CCDS54293, CCDS86790

Canonical transcript exons

ENST00000313777 — 11 exons

Exon	Start	End
ENSE00001251873	49812996	49813292
ENSE00002186940	49806866	49807374
ENSE00003510926	49812251	49812335
ENSE00003516956	49808574	49808638
ENSE00003529157	49812615	49812736
ENSE00003532065	49811363	49811467
ENSE00003539309	49808414	49808488
ENSE00003551816	49809378	49809575
ENSE00003587933	49808717	49808823
ENSE00003636849	49809163	49809258
ENSE00003661417	49811631	49811699

Expression profiles

Bgee: expression breadth ubiquitous, 243 present calls, max score 98.10.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 5.4025 / max 347.3354, expressed in 1578 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
182085	2.8858	1394
182083	1.0897	487
182079	0.7509	210
182084	0.3329	177
182081	0.3016	157
182078	0.0225	4
182080	0.0191	5

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	98.10	gold quality
right testis	UBERON:0004534	97.31	gold quality
left testis	UBERON:0004533	97.19	gold quality
testis	UBERON:0000473	94.53	gold quality
ventricular zone	UBERON:0003053	93.44	gold quality
right hemisphere of cerebellum	UBERON:0014890	92.72	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	92.47	gold quality
hindlimb stylopod muscle	UBERON:0004252	92.45	gold quality
cerebellar hemisphere	UBERON:0002245	92.30	gold quality
cerebellar cortex	UBERON:0002129	92.25	gold quality
ganglionic eminence	UBERON:0004023	91.97	gold quality
apex of heart	UBERON:0002098	91.63	gold quality
right adrenal gland	UBERON:0001233	91.56	gold quality
right frontal lobe	UBERON:0002810	91.48	gold quality
triceps brachii	UBERON:0001509	91.46	silver quality
olfactory bulb	UBERON:0002264	91.40	silver quality
right adrenal gland cortex	UBERON:0035827	91.31	gold quality
spinal cord	UBERON:0002240	91.29	gold quality
left ovary	UBERON:0002119	91.27	gold quality
cerebellum	UBERON:0002037	91.11	gold quality
prefrontal cortex	UBERON:0000451	90.65	gold quality
caudate nucleus	UBERON:0001873	90.63	gold quality
putamen	UBERON:0001874	90.58	gold quality
adenohypophysis	UBERON:0002196	90.57	gold quality
left adrenal gland cortex	UBERON:0035825	90.57	gold quality
right ovary	UBERON:0002118	90.56	gold quality
nucleus accumbens	UBERON:0001882	90.46	gold quality
type B pancreatic cell	CL:0000169	90.38	gold quality
left adrenal gland	UBERON:0001234	90.37	gold quality
pituitary gland	UBERON:0000007	90.33	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-GEOD-134144	yes	28.08
E-ANND-3	yes	3.65

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

8 targeting FUZ, 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-6887-3P	99.66	67.83	1778
HSA-MIR-4685-5P	99.25	65.99	1563
HSA-MIR-6837-5P	99.25	65.47	1632
HSA-MIR-223-5P	99.24	68.82	1206
HSA-MIR-661	99.09	65.94	2062
HSA-MIR-452-3P	99.01	66.25	1241
HSA-MIR-637	97.91	64.05	1517
HSA-MIR-7113-5P	97.88	67.33	1735

Literature-anchored findings (GeneRIF, showing 5)

• Data propose that mutations in Fuzzy may account for a subset of neural tube defects in humans. (PMID:21840926)
• results in vitro show that FUZ is responsible for non-small-cell lung cancer (NSCLC) progression and metastasis, suggesting that FUZ can be a potential therapeutic target for NSCLC. (PMID:29421438)
• this study unveils a generic Fuz-mediated apoptotic cell death pathway in neurodegenerative disorders. (PMID:30026307)
• Pan-cancer investigation reveals mechanistic insights of planar cell polarity gene Fuz in carcinogenesis. (PMID:33658400)
• Biallelic loss of function variants in FUZ result in an orofaciodigital syndrome. (PMID:38702430)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	fuz	ENSDARG00000079730
mus_musculus	Fuz	ENSMUSG00000011658
rattus_norvegicus	Fuz	ENSRNOG00000053084
drosophila_melanogaster	fy	FBGN0001084

Protein

Protein identifiers

Protein fuzzy homolog — Q9BT04 (reviewed: Q9BT04)

All UniProt accessions (11): Q9BT04, E9PK12, E9PKJ4, E9PLA3, E9PS25, G5E9A4, M0QYI7, M0QYX9, M0QZY8, M0R0M0, M0R1D4

UniProt curated annotations — full annotation on UniProt →

Function. Probable planar cell polarity effector involved in cilium biogenesis. May regulate protein and membrane transport to the cilium. Proposed to function as core component of the CPLANE (ciliogenesis and planar polarity effectors) complex involved in the recruitment of peripheral IFT-A proteins to basal bodies. May regulate the morphogenesis of hair follicles which depends on functional primary cilia. Binds phosphatidylinositol 3-phosphate with highest affinity, followed by phosphatidylinositol 4-phosphate and phosphatidylinositol 5-phosphate.

Subunit / interactions. Component of the CPLANE (ciliogenesis and planar polarity effectors) complex, composed of INTU, FUZ and WDPCP. Interacts with CPLANE2. Interacts with CPLANE1.

Subcellular location. Cytoplasm. Cytoskeleton. Cilium basal body.

Similarity. Belongs to the fuzzy family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q9BT04-1	1	yes
Q9BT04-2	2
Q9BT04-3	3

RefSeq proteins (4): NP_001165408, NP_001339191, NP_001350592, NP_079405* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR026069	Fuzzy	Family
IPR043970	FUZ/MON1/HPS1_longin_3	Domain
IPR043971	FUZ/MON1/HPS1_longin_2	Domain
IPR043972	FUZ/MON1/HPS1_longin_1	Domain

Pfam: PF19036, PF19037, PF19038

UniProt features (50 total): strand 19, helix 16, turn 9, sequence variant 3, splice variant 2, chain 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
7Q3D	ELECTRON MICROSCOPY	3.35
9RS9	ELECTRON MICROSCOPY	3.4
9RS8	ELECTRON MICROSCOPY	3.7

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BT04-F1	87.68	0.62

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-5610787	Hedgehog ‘off’ state

MSigDB gene sets: 298 (showing top): GSE45365_NK_CELL_VS_CD11B_DC_UP, GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, GOBP_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_BODY_MORPHOGENESIS, GOBP_SKELETAL_SYSTEM_DEVELOPMENT, GOBP_EMBRYONIC_SKELETAL_SYSTEM_DEVELOPMENT, GOBP_EMBRYONIC_SKELETAL_SYSTEM_MORPHOGENESIS, GOBP_NEURAL_TUBE_DEVELOPMENT, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_REGULATION_OF_WNT_SIGNALING_PATHWAY, GOBP_NEGATIVE_REGULATION_OF_EPITHELIAL_TO_MESENCHYMAL_TRANSITION, FOXO4_01, GOBP_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION

GO Biological Process (20): establishment of planar polarity (GO:0001736), neural tube closure (GO:0001843), hair follicle development (GO:0001942), negative regulation of cell population proliferation (GO:0008285), regulation of smoothened signaling pathway (GO:0008589), embryonic body morphogenesis (GO:0010172), protein transport (GO:0015031), vesicle-mediated transport (GO:0016192), neural tube development (GO:0021915), negative regulation of cell migration (GO:0030336), intraciliary transport (GO:0042073), positive regulation of cilium assembly (GO:0045724), embryonic skeletal system morphogenesis (GO:0048704), cilium assembly (GO:0060271), negative regulation of canonical Wnt signaling pathway (GO:0090090), negative regulation of neural crest formation (GO:0090301), regulation of cilium assembly (GO:1902017), non-motile cilium assembly (GO:1905515), obsolete negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314), cell projection organization (GO:0030030)

GO Molecular Function (2): phosphatidylinositol binding (GO:0035091), protein binding (GO:0005515)

GO Cellular Component (5): cytoplasm (GO:0005737), cytoskeleton (GO:0005856), cilium (GO:0005929), extracellular exosome (GO:0070062), cell projection (GO:0042995)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Signaling by Hedgehog	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cilium assembly	3
transport	2
cilium organization	2
cellular anatomical structure	2
morphogenesis of a polarized epithelium	1
establishment of tissue polarity	1
primary neural tube formation	1
tube closure	1
hair cycle process	1
anatomical structure development	1
skin epidermis development	1
cell population proliferation	1
regulation of cell population proliferation	1
negative regulation of cellular process	1
smoothened signaling pathway	1
regulation of signal transduction	1
body morphogenesis	1
embryonic morphogenesis	1
intracellular protein localization	1
establishment of protein localization	1
cellular process	1
nervous system development	1
tube development	1
chordate embryonic development	1
epithelium development	1
cell migration	1
regulation of cell migration	1
negative regulation of cell motility	1
cilium	1
transport along microtubule	1
positive regulation of plasma membrane bounded cell projection assembly	1
regulation of cilium assembly	1
positive regulation of organelle assembly	1
embryonic organ morphogenesis	1
skeletal system morphogenesis	1
embryonic skeletal system development	1
axoneme assembly	1
intraciliary transport involved in cilium assembly	1
protein localization to cilium	1
organelle assembly	1

Protein interactions and networks

STRING

352 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FUZ	INTU	Q9ULD6	995
FUZ	WDPCP	O95876	916
FUZ	CPLANE2	Q9BU20	785
FUZ	DVL1	O14640	546
FUZ	DVL2	O14641	536
FUZ	CRYGS	P22914	514
FUZ	IFT54	Q8TDR0	480
FUZ	B4GALNT1	Q00973	443
FUZ	IFT43	Q96FT9	440
FUZ	RAB23	Q9ULC3	428
FUZ	WDR35	Q9P2L0	396
FUZ	TSPAN9	O75954	373
FUZ	WDR19	Q8NEZ3	369
FUZ	TBC1D32	Q96NH3	365
FUZ	SPEF1	Q9Y4P9	359

IntAct

22 interactions, top by confidence:

A	B	Type	Score
FUZ	CPLANE2	psi-mi:“MI:0915”(physical association)	0.800
CPLANE2	FUZ	psi-mi:“MI:0915”(physical association)	0.800
FUZ	INTU	psi-mi:“MI:0915”(physical association)	0.660
DDX11	FUZ	psi-mi:“MI:0915”(physical association)	0.560
DVL3	FUZ	psi-mi:“MI:0915”(physical association)	0.460
DVL3	FUZ	psi-mi:“MI:0403”(colocalization)	0.460
TMEM25	NME4	psi-mi:“MI:0914”(association)	0.350
FUZ	UBB	psi-mi:“MI:0914”(association)	0.350
INTU	CCNA2	psi-mi:“MI:0914”(association)	0.350
CPLANE2	PKP1	psi-mi:“MI:0914”(association)	0.350
FUZ	UBL4A	psi-mi:“MI:0914”(association)	0.350
FUZ	HSPA8	psi-mi:“MI:0914”(association)	0.350
FUZ	PRORP	psi-mi:“MI:0914”(association)	0.350
INTU	FUZ	psi-mi:“MI:0915”(physical association)	0.000
FUZ	CPLANE2	psi-mi:“MI:0915”(physical association)	0.000
DSCR9	FUZ	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (43): FUZ (Affinity Capture-MS), FUZ (Affinity Capture-MS), FUZ (Two-hybrid), FUZ (Affinity Capture-MS), INTU (Affinity Capture-MS), OSBPL9 (Affinity Capture-MS), HPS1 (Affinity Capture-MS), OSBPL11 (Affinity Capture-MS), UBB (Affinity Capture-MS), FUZ (Affinity Capture-MS), DDX11 (Affinity Capture-MS), HSPA8 (Affinity Capture-MS), UBE3A (Affinity Capture-MS), BAG6 (Affinity Capture-MS), ACTR6 (Affinity Capture-MS)

ESM2 similar proteins: A0A0G2JXN2, A2RRH5, A2RUS2, A5D9D4, A6QP75, B2RYG8, G5E872, O08983, P23610, P70295, Q0VF94, Q12980, Q17RQ9, Q2T9P3, Q2TBH1, Q3B756, Q3SZD4, Q3TAA7, Q3UTZ3, Q3UYI6, Q499N3, Q4R4E4, Q4R681, Q4VBE8, Q5RF82, Q5ZIH2, Q60HF3, Q60I27, Q69Z89, Q6P9U1, Q7L1V2, Q7TNM2, Q7Z4K8, Q8BK75, Q8BMQ8, Q8BQX5, Q8N1F8, Q8WVR3, Q8WXI3, Q920N2

Diamond homologs: O16868, Q29NZ8, Q9BT04, Q2HZX7, Q3B756, Q3UYI6

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
FUZ	“form complex”	“CPLANE complex”	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	56
Likely benign	12
Benign	7

Top pathogenic / likely-pathogenic (0)

SpliceAI

1842 predictions. Top by Δscore:

Variant	Effect	Δscore
19:49808346:C:CA	donor_gain	1.0000
19:49808347:C:A	donor_gain	1.0000
19:49808489:CTG:C	acceptor_gain	1.0000
19:49808570:TCACC:T	donor_loss	1.0000
19:49808571:CAC:C	donor_loss	1.0000
19:49808634:GCAGC:G	acceptor_gain	1.0000
19:49808635:CAGC:C	acceptor_gain	1.0000
19:49808635:CAGCC:C	acceptor_gain	1.0000
19:49808636:AGC:A	acceptor_gain	1.0000
19:49808636:AGCCT:A	acceptor_loss	1.0000
19:49808637:GC:G	acceptor_gain	1.0000
19:49808637:GCCTG:G	acceptor_loss	1.0000
19:49808638:CC:C	acceptor_gain	1.0000
19:49808638:CCTGT:C	acceptor_loss	1.0000
19:49808639:C:CC	acceptor_gain	1.0000
19:49808640:T:C	acceptor_loss	1.0000
19:49811357:CAGTA:C	donor_loss	1.0000
19:49811358:AGTAC:A	donor_loss	1.0000
19:49811359:GTAC:G	donor_loss	1.0000
19:49811360:TA:T	donor_loss	1.0000
19:49811361:A:AT	donor_loss	1.0000
19:49811362:CC:C	donor_loss	1.0000
19:49811463:CTGGC:C	acceptor_gain	1.0000
19:49811468:C:CC	acceptor_gain	1.0000
19:49811625:CCTCA:C	donor_loss	1.0000
19:49811626:CTCAC:C	donor_loss	1.0000
19:49811629:A:AC	donor_gain	1.0000
19:49811629:A:AG	donor_loss	1.0000
19:49811629:AC:A	donor_gain	1.0000
19:49811630:C:CA	donor_gain	1.0000

AlphaMissense

2632 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:49812634:A:G	W72R	0.999
19:49812634:A:T	W72R	0.999
19:49812692:A:C	F52L	0.999
19:49812692:A:T	F52L	0.999
19:49812694:A:G	F52L	0.999
19:49812717:C:T	G44D	0.999
19:49812728:G:C	F40L	0.999
19:49812728:G:T	F40L	0.999
19:49812730:A:G	F40L	0.999
19:49811643:C:A	K125N	0.998
19:49811643:C:G	K125N	0.998
19:49812711:A:T	L46H	0.998
19:49812632:C:A	W72C	0.997
19:49812632:C:G	W72C	0.997
19:49812705:C:T	G48E	0.997
19:49812711:A:G	L46P	0.997
19:49812729:A:C	F40C	0.997
19:49812633:C:G	W72S	0.996
19:49812693:A:C	F52C	0.996
19:49812702:A:T	V49D	0.996
19:49812718:C:G	G44R	0.996
19:49813048:C:T	G20E	0.996
19:49813067:A:G	C14R	0.996
19:49812327:A:G	L81P	0.995
19:49812693:A:G	F52S	0.995
19:49812706:C:G	G48R	0.995
19:49812706:C:T	G48R	0.995
19:49813065:G:C	C14W	0.995
19:49809401:A:C	Y223D	0.994
19:49812715:A:G	S45P	0.994

dbSNP variants (sampled 300 via entrez): RS1000367347 (19:49815195 A>T), RS1000978206 (19:49813312 G>A), RS1001121610 (19:49811495 G>A), RS1001527156 (19:49814778 G>A,C), RS1001639181 (19:49808969 G>A,C), RS1001761114 (19:49814020 C>G,T), RS1001808589 (19:49814506 C>T), RS1001985054 (19:49808770 C>A,G,T), RS1002533642 (19:49813285 A>C,G), RS1002575379 (19:49815136 T>G), RS1002589589 (19:49807495 C>G,T), RS1003635913 (19:49806432 C>T), RS1003815357 (19:49811705 A>C), RS1003961653 (19:49813814 TA>T,TAA), RS1004518996 (19:49807654 G>A)

Disease associations

OMIM: gene MIM:610622 | disease phenotypes: MIM:182940, MIM:263520, MIM:208500

GenCC curated gene-disease

Disease	Classification	Inheritance
ciliopathy	Strong	Autosomal recessive
neural tube defects, susceptibility to	Limited	Unknown

Mondo (5): neural tube defect (MONDO:0018075), neural tube defects, susceptibility to (MONDO:0020705), short-rib thoracic dysplasia 6 with or without polydactyly (MONDO:0009894), Jeune syndrome (MONDO:0018770), ciliopathy (MONDO:0005308)

Orphanet (3): Neural tube defect (Orphanet:3388), Spina bifida and other spinal dysraphisms (Orphanet:823), Jeune syndrome (Orphanet:474)

HPO phenotypes

40 total (30 of 40 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000020	Urinary incontinence
HP:0000028	Cryptorchidism
HP:0000062	Ambiguous genitalia
HP:0000069	Abnormality of the ureter
HP:0000073	Ureteral duplication
HP:0000076	Vesicoureteral reflux
HP:0000083	Renal insufficiency
HP:0000086	Ectopic kidney
HP:0000104	Renal agenesis
HP:0000202	Orofacial cleft
HP:0000238	Hydrocephalus
HP:0000822	Hypertension
HP:0000921	Missing ribs
HP:0000960	Sacral dimple
HP:0001012	Multiple lipomas
HP:0001315	Reduced tendon reflexes
HP:0001387	Joint stiffness
HP:0001762	Talipes equinovarus
HP:0002023	Anal atresia
HP:0002089	Pulmonary hypoplasia
HP:0002139	Arrhinencephaly
HP:0002308	Chiari malformation
HP:0002323	Anencephaly
HP:0002475	Myelomeningocele
HP:0002607	Bowel incontinence
HP:0002644	Abnormal pelvic girdle bone morphology
HP:0002650	Scoliosis
HP:0003199	Decreased muscle mass
HP:0003298	Spina bifida occulta

GWAS associations

0 associations (top):

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D009436	Neural Tube Defects	C10.500.680; C16.131.666.680
C537571	Jeune syndrome (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

24 total (human), top 24 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects cotreatment, increases expression, decreases expression	2
Smoke	decreases expression, increases abundance, increases expression	2
GSK-J4	decreases expression	1
bisphenol F	affects cotreatment, increases expression	1
triphenyl phosphate	affects expression	1
pirinixic acid	affects binding, decreases expression, increases activity	1
sodium arsenite	increases expression	1
beta-methylcholine	affects expression	1
2,2’,4,4’-tetrabromodiphenyl ether	affects expression, affects methylation	1
jinfukang	affects cotreatment, increases expression	1
Air Pollutants	increases abundance, increases expression	1
Amiodarone	increases expression	1
Benzo(a)pyrene	decreases methylation	1
Cisplatin	increases expression, affects cotreatment	1
Dexamethasone	affects cotreatment, increases expression	1
Estradiol	decreases expression	1
Indomethacin	affects cotreatment, increases expression	1
Thiram	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Tretinoin	decreases expression	1
Valproic Acid	affects expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, increases expression	1
Okadaic Acid	increases expression	1
Acrylamide	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00301587	PHASE3	WITHDRAWN	A Study to Evaluate Folate Levels in Women Taking Oral Contraceptives
NCT00468481	PHASE3	COMPLETED	Efficacy and Safety Study for an Oral Contraceptive Containing Folate
NCT01392989	PHASE2	COMPLETED	Post T-plant Infusion of Allogeneic Cytokine Induced Killer (CIK) Cells as Consolidative Therapy in Myelodysplastic Syndromes/Myeloproliferative Disorders
NCT00452829	PHASE1	COMPLETED	Prevention of Neural Tube Defects by Inositol in Conjunction With Folic Acid (PONTI Study)
NCT03794011	PHASE1	ACTIVE_NOT_RECRUITING	Patch vs. No Patch Fetoscopic Meningomyelocele Repair Study
NCT02230072	PHASE1	COMPLETED	Fetoscopic Meningomyelocele Repair Study
NCT00341068	Not specified	TERMINATED	Genetic Analysis of Neural Tube and Orofacial Cleft Defects in the Irish Population
NCT00394862	Not specified	COMPLETED	Efficacy of Weekly Versus Daily Folic Acid Supplementation
NCT01244399	Not specified	COMPLETED	Influence of Espresso on Adsorption of Myo-inositol
NCT01253746	Not specified	UNKNOWN	Genetics of Neural Tube Defects
NCT01743196	Not specified	COMPLETED	Folate Metabolism in Normal Weight and Obese Women of Child-bearing Age
NCT03090633	Not specified	ACTIVE_NOT_RECRUITING	Fetoscopic Repair of Isolated Fetal Spina Bifida
NCT03315637	Not specified	UNKNOWN	Fetal Endoscopic Surgery for Spina Bifida
NCT03856034	Not specified	RECRUITING	Laparotomy Versus Percutaneous Endoscopic Correction of Myelomeningocele
NCT03936322	Not specified	COMPLETED	Minimally Invasive Fetoscopic Regenerative Repair of Spina Bifida - A Pilot Study
NCT04135274	Not specified	COMPLETED	Is Neutrophil to Lymphocyte Ratio a Prognostic Factor of Sepsis in Newborns With Operated Neural Tube Defects?
NCT04140669	Not specified	TERMINATED	Automated Myocardial Performance Index Using Samsung HERA W10
NCT04362592	Not specified	ACTIVE_NOT_RECRUITING	In-Utero Endoscopic Correction of Spina Bifida
NCT04523233	Not specified	UNKNOWN	Metals/Vitamins Levels in NTD
NCT04760509	Not specified	UNKNOWN	Short- Term Follow up Of Neonates Born With Neural Tube Defect
NCT04770805	Not specified	ACTIVE_NOT_RECRUITING	In Utero Fetoscopic Repair Program for Sacral Myelomeningoceles and Mye-LDM
NCT05454085	Not specified	COMPLETED	Could Bisphenol-A Have a Role in the Etiology of Neural Tube Defects
NCT05672849	Not specified	RECRUITING	Safety and Efficacy of Devices Used in Fetoscopic Neural Tube Defect Repair Cases
NCT05883761	Not specified	COMPLETED	Birth Outcomes In Eswatini After Transition To Dolutegravir-Based Treatment
NCT05935631	Not specified	COMPLETED	Feasibility, Acceptability and Directional Signal Effect on Blood Folate Levels of Iodized Salt Fortified With Folic Acid: Clinical Study
NCT06135883	Not specified	COMPLETED	Assessing Folic Acid in High-Risk Pregnancy for Neural Tube Defects
NCT06174883	Not specified	COMPLETED	Salt-FA to Increase Folate Levels
NCT06734611	Not specified	NOT_YET_RECRUITING	Folic Acid Salt Study (FISFA Zambia)
NCT06904612	Not specified	COMPLETED	Using Iodized Salt to Improve Serum Folate, B12 and Iron Levels
NCT06946563	Not specified	RECRUITING	Fetoscopic Neural Tube Defect Repair
NCT00068224	Not specified	COMPLETED	Clinical and Molecular Investigations Into Ciliopathies
NCT04874909	Not specified	COMPLETED	Classification, Functional Stratification and Biomarkers in Ciliopathy (CILLICORIRCM)
NCT00060606	Not specified	COMPLETED	Management of Myelomeningocele Study (MOMS)
NCT00966927	Not specified	ACTIVE_NOT_RECRUITING	Assessment of Functional Independence and Quality of Life in Adolescents With Spina Bifid
NCT00975338	Not specified	COMPLETED	The LETS Study: A Longitudinal Evaluation of Transition Services
NCT02592291	Not specified	RECRUITING	Mobile Health Self-Management and Support System for Chronic and Complex Health Conditions
NCT03044821	Not specified	TERMINATED	Open Myelomeningocele Repair With High Maternal BMI
NCT03544970	Not specified	COMPLETED	An Audit of the Posterior Fossa Characterization in Open Spina Bifida Based on Tertiary Center Experience
NCT04763382	Not specified	UNKNOWN	The Effect of Nursing Interventions for Clean Intermittent Catheterization Caregivers and Child
NCT05718440	Not specified	RECRUITING	Uronephrological Complications Risk Factors in Spinal Dysraphism