KDF1

Summary

KDF1 (keratinocyte differentiation factor 1, HGNC:26624) is a protein-coding gene on chromosome 1p36.11, encoding Keratinocyte differentiation factor 1 (Q8NAX2). Plays a role in the regulation of the epidermis formation during early development.

Predicted to be involved in several processes, including positive regulation of epidermal cell differentiation; regulation of epidermal cell division; and skin epidermis development. Predicted to act upstream of or within several processes, including keratinocyte development; negative regulation of keratinocyte proliferation; and protein stabilization. Predicted to be located in cytoplasm. Predicted to be active in cell junction. Implicated in ectodermal dysplasia 12.

Source: NCBI Gene 126695 — RefSeq curated summary.

At a glance

• Gene–disease (curated): ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type (Definitive, ClinGen) — +1 more curated relationship
• GWAS associations: 13
• Clinical variants (ClinVar): 130 total — 3 pathogenic, 1 likely-pathogenic
• Phenotypes (HPO): 31
• MANE Select transcript: NM_152365

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26624
Approved symbol	KDF1
Name	keratinocyte differentiation factor 1
Location	1p36.11
Locus type	gene with protein product
Status	Approved
Aliases	FLJ34633, RP11-344H11.3
Ensembl gene	ENSG00000175707
Ensembl biotype	protein_coding
OMIM	616758
Entrez	126695

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 9 protein_coding

ENST00000320567, ENST00000866899, ENST00000866900, ENST00000866901, ENST00000866902, ENST00000866903, ENST00000866904, ENST00000912092, ENST00000912093

RefSeq mRNA: 1 — MANE Select: NM_152365 NM_152365

CCDS: CCDS293

Canonical transcript exons

ENST00000320567 — 4 exons

Exon	Start	End
ENSE00001221939	26950682	26950756
ENSE00001221948	26960350	26960468
ENSE00001221960	26949562	26950151
ENSE00001221970	26951342	26952412

Expression profiles

Bgee: expression breadth ubiquitous, 163 present calls, max score 88.64.

FANTOM5 (CAGE): breadth broad, TPM avg 2.5120 / max 30.5818, expressed in 525 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
11211	1.4317	487
11210	1.0803	358

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
mucosa of transverse colon	UBERON:0004991	88.64	gold quality
lower esophagus mucosa	UBERON:0035834	88.43	gold quality
esophagus mucosa	UBERON:0002469	83.67	gold quality
skin of abdomen	UBERON:0001416	82.23	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	82.01	gold quality
body of pancreas	UBERON:0001150	81.91	gold quality
skin of leg	UBERON:0001511	81.90	gold quality
zone of skin	UBERON:0000014	80.40	gold quality
pancreas	UBERON:0001264	80.20	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	80.20	gold quality
ileal mucosa	UBERON:0000331	80.17	gold quality
islet of Langerhans	UBERON:0000006	79.81	gold quality
gingival epithelium	UBERON:0001949	79.19	silver quality
right lobe of thyroid gland	UBERON:0001119	79.07	gold quality
left lobe of thyroid gland	UBERON:0001120	79.01	gold quality
minor salivary gland	UBERON:0001830	78.86	gold quality
corpus epididymis	UBERON:0004359	78.33	gold quality
mouth mucosa	UBERON:0003729	78.28	gold quality
saliva-secreting gland	UBERON:0001044	77.97	gold quality
pancreatic ductal cell	CL:0002079	77.85	silver quality
thyroid gland	UBERON:0002046	77.63	gold quality
gingiva	UBERON:0001828	77.50	silver quality
right uterine tube	UBERON:0001302	76.84	gold quality
esophagus squamous epithelium	UBERON:0006920	76.43	silver quality
cauda epididymis	UBERON:0004360	76.40	gold quality
metanephros cortex	UBERON:0010533	76.22	gold quality
rectum	UBERON:0001052	76.16	gold quality
duodenum	UBERON:0002114	76.07	gold quality
pituitary gland	UBERON:0000007	75.82	gold quality
adenohypophysis	UBERON:0002196	75.23	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.14
E-CURD-11	no	27.63

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

33 targeting KDF1, 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-4481	100.00	66.42	1669
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-4650-5P	99.98	64.69	999
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-4713-5P	99.78	67.80	1794
HSA-MIR-2116-3P	99.74	64.32	889
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-6883-5P	99.69	68.05	3785
HSA-MIR-3136-3P	99.57	66.59	781
HSA-MIR-7155-3P	99.57	66.48	794
HSA-MIR-203A-3P	99.49	70.56	2806
HSA-MIR-1207-5P	99.49	69.11	2983
HSA-MIR-103A-1-5P	99.39	67.78	1545
HSA-MIR-103A-2-5P	99.39	67.72	1577
HSA-MIR-532-3P	99.34	65.76	1195
HSA-MIR-3688-5P	99.12	69.67	1091
HSA-MIR-4763-3P	99.10	67.83	2649
HSA-MIR-1207-3P	98.99	66.22	1532
HSA-MIR-11399	98.71	65.69	869
HSA-MIR-509-3P	98.12	67.25	612
HSA-MIR-1972	97.67	67.38	1172

Literature-anchored findings (GeneRIF, showing 2)

• We describe a family with a novel, autosomal dominant form of ectodermal dysplasia that we suggest is the mild human equivalent of the shd mutant phenotype in mouse based on the finding of a novel KDF1 variant by positional mapping and exome sequencing. (PMID:27838789)
• KDF1 Novel Variant Causes Unique Dental and Oral Epithelial Defects. (PMID:36293320)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	kdf1a	ENSDARG00000079834
danio_rerio	kdf1b	ENSDARG00000101878
mus_musculus	Kdf1	ENSMUSG00000037600
rattus_norvegicus	Kdf1	ENSRNOG00000055933

Protein

Protein identifiers

Keratinocyte differentiation factor 1 — Q8NAX2 (reviewed: Q8NAX2)

All UniProt accessions (1): Q8NAX2

UniProt curated annotations — full annotation on UniProt →

Function. Plays a role in the regulation of the epidermis formation during early development. Required both as an inhibitor of basal cell proliferation and a promoter of differentiation of basal progenitor cell progeny.

Subcellular location. Cytoplasm. Cell junction.

Disease relevance. Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type (ECTD12) [MIM:617337] A form of ectodermal dysplasia, a disorder due to abnormal development of two or more ectodermal structures. ECTD12 is an autosomal dominant, hypohidrotic form characterized by sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth, and the inability to sweat due to defective development of sweat glands. The disease may be caused by variants affecting the gene represented in this entry.

RefSeq proteins (1): NP_689578* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR028003	KDF1	Family

Pfam: PF15551

UniProt features (14 total): sequence variant 5, region of interest 4, compositionally biased region 2, chain 1, sequence conflict 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NAX2-F1	59.59	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 (1): 218

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 188 (showing top): GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_DN, GOBP_POSITIVE_REGULATION_OF_EPITHELIAL_CELL_DIFFERENTIATION, GOBP_NEGATIVE_REGULATION_OF_EPITHELIAL_CELL_PROLIFERATION, GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_REGULATION_OF_EPIDERMIS_DEVELOPMENT, GOBP_EPITHELIAL_CELL_DEVELOPMENT, GOBP_KERATINOCYTE_PROLIFERATION, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GOBP_GROWTH, GOBP_MORPHOGENESIS_OF_EMBRYONIC_EPITHELIUM, GOBP_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_REMOVAL, SP1_Q2_01, GOBP_STEM_CELL_PROLIFERATION, GOBP_REGULATION_OF_EPITHELIAL_CELL_DIFFERENTIATION

GO Biological Process (16): keratinocyte development (GO:0003334), regulation of epidermal cell division (GO:0010482), negative regulation of keratinocyte proliferation (GO:0010839), morphogenesis of embryonic epithelium (GO:0016331), protein deubiquitination (GO:0016579), keratinocyte proliferation (GO:0043616), positive regulation of epidermal cell differentiation (GO:0045606), developmental growth (GO:0048589), protein stabilization (GO:0050821), limb epidermis development (GO:0060887), establishment of skin barrier (GO:0061436), stem cell proliferation (GO:0072089), negative regulation of stem cell proliferation (GO:2000647), epidermal cell differentiation (GO:0009913), cell differentiation (GO:0030154), skin development (GO:0043588)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (5): cytoplasm (GO:0005737), cell cortex (GO:0005938), cell junction (GO:0030054), cell leading edge (GO:0031252), anchoring junction (GO:0070161)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
skin epidermis development	2
epithelial cell development	1
keratinocyte differentiation	1
epidermal cell division	1
regulation of cell division	1
regulation of keratinocyte proliferation	1
keratinocyte proliferation	1
negative regulation of epithelial cell proliferation	1
morphogenesis of an epithelium	1
embryonic morphogenesis	1
cysteine-type deubiquitinase activity	1
protein modification by small protein removal	1
epithelial cell proliferation	1
epidermal cell differentiation	1
positive regulation of epithelial cell differentiation	1
regulation of epidermal cell differentiation	1
positive regulation of epidermis development	1
developmental process	1
growth	1
regulation of protein stability	1
limb development	1
cell population proliferation	1
stem cell division	1
negative regulation of cell population proliferation	1
stem cell proliferation	1
regulation of stem cell proliferation	1
epidermis development	1
epithelial cell differentiation	1
cellular developmental process	1
animal organ development	1
binding	1
intracellular anatomical structure	1
cytoplasm	1
cell periphery	1
cell junction	1

Protein interactions and networks

STRING

830 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KDF1	RIPK4	P57078	526
KDF1	SFN	P31947	466
KDF1	TMEM125	Q96AQ2	431
KDF1	RBBP8NL	Q8NC74	408
KDF1	IRF6	O14896	398
KDF1	RIF1	Q5UIP0	391
KDF1	RAB25	P57735	385
KDF1	PRSS35	Q8N3Z0	385
KDF1	DHRS13	Q6UX07	377
KDF1	GCSAML	Q5JQS6	359
KDF1	AP1M2	Q9Y6Q5	352
KDF1	KLHDC8B	Q8IXV7	334
KDF1	GAL3ST4	Q96RP7	331
KDF1	CCDC146	Q8IYE0	322
KDF1	C6orf136	Q5SQH8	322

IntAct

15 interactions, top by confidence:

A	B	Type	Score
POU6F2	KDF1	psi-mi:“MI:0915”(physical association)	0.560
KDF1	MIPOL1	psi-mi:“MI:0915”(physical association)	0.560
	KDF1	psi-mi:“MI:0915”(physical association)	0.560
ARID5A	KDF1	psi-mi:“MI:0915”(physical association)	0.560
KDF1	MLYCD	psi-mi:“MI:0914”(association)	0.350
CDH1	ESYT2	psi-mi:“MI:2364”(proximity)	0.270
KDF1	POU6F2	psi-mi:“MI:0915”(physical association)	0.000
KDF1	MIPOL1	psi-mi:“MI:0915”(physical association)	0.000
KDF1		psi-mi:“MI:0915”(physical association)	0.000
KDF1	ARID5A	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (196): KDF1 (Proximity Label-MS), KDF1 (Proximity Label-MS), KDF1 (Proximity Label-MS), KDF1 (Two-hybrid), KDF1 (Two-hybrid), KDF1 (Two-hybrid), ARID5A (Two-hybrid), CHUK (Affinity Capture-Western), KDF1 (Affinity Capture-Western), USP7 (Affinity Capture-Western), MYH15 (Affinity Capture-MS), KDF1 (Affinity Capture-MS), UBB (Affinity Capture-MS), ALDH18A1 (Affinity Capture-MS), PUM1 (Affinity Capture-MS)

ESM2 similar proteins: A0A1B0GVZ6, A0A1W2PR82, A0A286YDK6, A2A9F4, A2VE02, A5D7I0, A6H7B4, A6NE82, A6NEV1, A6NJB7, A6NJI1, A6NJJ6, A6QP24, A6QPM6, A8MZG2, D3ZAQ5, D4AAA5, O94850, O95873, P0C7X2, P50617, P70339, Q0P5M0, Q2KIL8, Q2KIS6, Q3UN58, Q3ZCQ2, Q5JPB2, Q5M844, Q5VZ46, Q6AY88, Q6GQX2, Q6NZ36, Q6ZW13, Q76NI1, Q7TNS8, Q80TS7, Q86YN6, Q8C1M2, Q8K2F3

Diamond homologs: A2A9F4, Q6AY88, Q8NAX2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	3
Likely pathogenic	1
Uncertain significance	91
Likely benign	16
Benign	12

Top pathogenic / likely-pathogenic (4)

Variant ID	HGVS	Classification
2717585	NM_152365.3(KDF1):c.845T>G (p.Ile282Ser)	Pathogenic
3655049	NM_152365.3(KDF1):c.753C>G (p.Phe251Leu)	Pathogenic
375476	NM_152365.3(KDF1):c.753C>A (p.Phe251Leu)	Pathogenic
2581057	NM_152365.3(KDF1):c.727A>C (p.Ile243Leu)	Likely pathogenic

SpliceAI

603 predictions. Top by Δscore:

Variant	Effect	Δscore
1:26950676:CCACA:C	donor_loss	1.0000
1:26950677:CACAC:C	donor_loss	1.0000
1:26950678:ACAC:A	donor_loss	1.0000
1:26950679:CA:C	donor_loss	1.0000
1:26950680:A:C	donor_loss	1.0000
1:26950681:C:G	donor_loss	1.0000
1:26950694:AAGG:A	donor_gain	1.0000
1:26950755:CT:C	acceptor_gain	1.0000
1:26950757:C:CC	acceptor_gain	1.0000
1:26951340:ACCAT:A	donor_gain	1.0000
1:26951341:CCATC:C	donor_gain	1.0000
1:26950151:CCTGG:C	acceptor_gain	0.9900
1:26950703:G:C	donor_gain	0.9900
1:26950706:T:TA	donor_gain	0.9900
1:26950752:CAGCT:C	acceptor_gain	0.9900
1:26950756:TC:T	acceptor_loss	0.9900
1:26950757:C:G	acceptor_gain	0.9900
1:26950757:CTAGG:C	acceptor_loss	0.9900
1:26950770:G:C	acceptor_gain	0.9900
1:26951344:T:TA	donor_gain	0.9900
1:26951506:T:TA	donor_gain	0.9900
1:26952412:CCT:C	acceptor_loss	0.9900
1:26952413:C:A	acceptor_loss	0.9900
1:26952414:T:A	acceptor_loss	0.9900
1:26960344:GCTTA:G	donor_loss	0.9900
1:26960345:CTTAC:C	donor_loss	0.9900
1:26960346:TTAC:T	donor_loss	0.9900
1:26960347:TAC:T	donor_loss	0.9900
1:26960348:A:C	donor_loss	0.9900
1:26950682:C:G	donor_loss	0.9800

AlphaMissense

2573 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:26951470:A:G	I304T	1.000
1:26951476:A:T	I302N	1.000
1:26951479:A:C	I301S	1.000
1:26951479:A:G	I301T	1.000
1:26951479:A:T	I301N	1.000
1:26951483:C:G	G300R	1.000
1:26951491:A:G	L297P	1.000
1:26951491:A:T	L297Q	1.000
1:26951536:A:C	I282S	1.000
1:26951545:A:T	I279N	1.000
1:26951548:A:G	L278P	1.000
1:26951557:A:C	I275S	1.000
1:26951557:A:G	I275T	1.000
1:26951557:A:T	I275N	1.000
1:26951577:G:C	F268L	1.000
1:26951577:G:T	F268L	1.000
1:26951578:A:C	F268C	1.000
1:26951578:A:G	F268S	1.000
1:26951579:A:G	F268L	1.000
1:26951597:A:G	C262R	1.000
1:26951602:G:T	A260D	1.000
1:26951605:A:G	L259P	1.000
1:26951605:A:T	L259Q	1.000
1:26951614:A:T	I256N	1.000
1:26951628:G:C	F251L	1.000
1:26951628:G:T	F251L	1.000
1:26951629:A:G	F251S	1.000
1:26951630:A:G	F251L	1.000
1:26951632:A:G	L250P	1.000
1:26951641:A:G	L247P	1.000

dbSNP variants (sampled 300 via entrez): RS1000858569 (1:26949328 G>C), RS1001026256 (1:26959158 G>A), RS1001419260 (1:26950871 A>C,G), RS1001504049 (1:26952142 G>A), RS1001562777 (1:26949577 C>A,G,T), RS1001638159 (1:26951129 G>C), RS1001765938 (1:26950520 T>G), RS1001915977 (1:26954948 T>C), RS1002106983 (1:26961989 C>T), RS1002310473 (1:26962342 A>G), RS1002644042 (1:26952724 T>C), RS1002796228 (1:26960069 C>T), RS1002947327 (1:26959833 G>A), RS1003355983 (1:26954514 G>A), RS1003376971 (1:26953096 C>A)

Disease associations

OMIM: gene MIM:616758 | disease phenotypes: MIM:106600, MIM:617337

GenCC curated gene-disease

Disease	Classification	Inheritance
ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type	Definitive	Autosomal dominant
autosomal dominant hypohidrotic ectodermal dysplasia	Supportive	Autosomal dominant

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type	Definitive	AD

Mondo (3): tooth agenesis (MONDO:0005486), ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type (MONDO:0015024), autosomal dominant hypohidrotic ectodermal dysplasia (MONDO:0015884)

Orphanet (2): Oligodontia (Orphanet:99798), NON RARE IN EUROPE: Hypodontia (Orphanet:2227)

HPO phenotypes

31 total (30 of 31 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000164	Abnormality of the dentition
HP:0000175	Cleft palate
HP:0000322	Short philtrum
HP:0000457	Depressed nasal ridge
HP:0000668	Hypodontia
HP:0000695	Natal tooth
HP:0000963	Thin skin
HP:0000964	Eczematoid dermatitis
HP:0000966	Hypohidrosis
HP:0001000	Abnormality of skin pigmentation
HP:0001231	Abnormal fingernail morphology
HP:0002047	Malignant hyperthermia
HP:0002231	Sparse body hair
HP:0004552	Scarring alopecia of scalp
HP:0005338	Sparse lateral eyebrow
HP:0006323	Premature loss of primary teeth
HP:0006482	Abnormal dental morphology
HP:0007387	Hypoplastic sweat glands
HP:0008070	Sparse hair
HP:0008392	Subungual hyperkeratosis
HP:0008404	Nail dystrophy
HP:0009886	Trichorrhexis nodosa
HP:0011120	Concave nasal ridge
HP:0011220	Prominent forehead
HP:0012471	Thick vermilion border
HP:0032152	Keratosis pilaris
HP:0032541	Knuckle pad
HP:0033252	Palmar hyperlinearity
HP:0040154	Acne inversa

GWAS associations

13 associations (top):

Study	Trait	p-value
GCST003680_19	C-reactive protein levels or HDL-cholesterol levels (pleiotropy)	1.000000e-08
GCST006611_52	HDL cholesterol	3.000000e-19
GCST006624_48	Systolic blood pressure	2.000000e-13
GCST006979_871	Heel bone mineral density	1.000000e-09
GCST007611_16	Chronic obstructive pulmonary disease or high blood pressure (pleiotropy)	6.000000e-12
GCST007931_31	Medication use (HMG CoA reductase inhibitors)	2.000000e-15
GCST008971_148	Urate levels	9.000000e-15
GCST008972_220	Urate levels	1.000000e-15
GCST011347_2	Low density lipoprotein cholesterol levels	5.000000e-11
GCST011348_63	High density lipoprotein cholesterol levels	3.000000e-09
GCST011350_8	C-reactive protein levels	2.000000e-10
GCST012145_14	Ferritin levels	6.000000e-07
GCST90013407_153	Liver enzyme levels (gamma-glutamyl transferase)	2.000000e-16

EFO canonical traits (9, from GWAS)

EFO ID	Trait name
EFO:0004458	C-reactive protein measurement
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0006335	systolic blood pressure
EFO:0009270	heel bone mineral density
EFO:0009932	HMG CoA reductase inhibitor use measurement
EFO:0004531	urate measurement
EFO:0004611	low density lipoprotein cholesterol measurement
EFO:0004459	ferritin measurement
EFO:0004532	serum gamma-glutamyl transferase measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

18 total (human), top 18 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases expression, increases methylation, affects cotreatment	3
bisphenol A	increases expression	1
sodium arsenite	decreases expression	1
butyraldehyde	decreases expression	1
pentanal	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
licochalcone B	increases expression	1
(+)-JQ1 compound	decreases expression	1
Resveratrol	decreases expression, affects cotreatment	1
Benzo(a)pyrene	affects methylation, decreases methylation	1
Plant Extracts	affects cotreatment, decreases expression	1
Thiram	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Urethane	decreases expression	1
Aflatoxin B1	increases methylation	1
Cadmium Chloride	decreases expression	1
Copper Sulfate	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT01470235	Not specified	UNKNOWN	Hypodontia and Ovarian Cancer
NCT03445026	Not specified	UNKNOWN	Frequency of Hypodontia After Chemotherapy in Childhood Cancer Survivors Study
NCT05771246	Not specified	COMPLETED	Craniofacial Morphology And Sella Turcica Bridging Associated With Third Molar Agenesis.