TUFT1

Summary

TUFT1 (tuftelin 1, HGNC:12422) is a protein-coding gene on chromosome 1q21.3, encoding Tuftelin (Q9NNX1). Involved in the structural organization of the epidermis.

Tuftelin is an acidic protein that is thought to play a role in dental enamel mineralization and is implicated in caries susceptibility. It is also thought to be involved with adaptation to hypoxia, mesenchymal stem cell function, and neurotrophin nerve growth factor mediated neuronal differentiation.

Source: NCBI Gene 7286 — RefSeq curated summary.

At a glance

• Gene–disease (curated): woolly hair-skin fragility syndrome (Strong, GenCC)
• GWAS associations: 1
• Clinical variants (ClinVar): 71 total — 2 pathogenic
• Phenotypes (HPO): 8
• MANE Select transcript: NM_020127

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:12422
Approved symbol	TUFT1
Name	tuftelin 1
Location	1q21.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000143367
Ensembl biotype	protein_coding
OMIM	600087
Entrez	7286

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 11 protein_coding, 3 retained_intron

ENST00000368848, ENST00000368849, ENST00000392712, ENST00000461859, ENST00000490156, ENST00000498606, ENST00000873674, ENST00000873675, ENST00000873676, ENST00000943021, ENST00000943022, ENST00000943023, ENST00000943024, ENST00000943025

RefSeq mRNA: 3 — MANE Select: NM_020127 NM_001126337, NM_001301317, NM_020127

CCDS: CCDS1000, CCDS44223

Canonical transcript exons

ENST00000368849 — 13 exons

Exon	Start	End
ENSE00000959606	151574911	151575005
ENSE00000959607	151578721	151578826
ENSE00000959608	151579649	151579732
ENSE00000959609	151580942	151581042
ENSE00001930853	151581644	151583583
ENSE00003477004	151562091	151562165
ENSE00003477587	151562585	151562686
ENSE00003487342	151569657	151569770
ENSE00003524221	151564525	151564614
ENSE00003524747	151566163	151566228
ENSE00003559180	151574270	151574398
ENSE00003588108	151563904	151563990
ENSE00003849714	151540309	151540426

Expression profiles

Bgee: expression breadth ubiquitous, 266 present calls, max score 99.15.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 16.5153 / max 616.6981, expressed in 1687 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
5231	16.5153	1687

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
amniotic fluid	UBERON:0000173	99.15	gold quality
cervix squamous epithelium	UBERON:0006922	98.16	gold quality
pancreatic ductal cell	CL:0002079	98.13	gold quality
upper leg skin	UBERON:0004262	98.05	gold quality
hair follicle	UBERON:0002073	98.03	gold quality
upper arm skin	UBERON:0004263	97.49	gold quality
skin of hip	UBERON:0001554	97.21	gold quality
skin of leg	UBERON:0001511	96.87	gold quality
gingival epithelium	UBERON:0001949	96.77	gold quality
zone of skin	UBERON:0000014	96.66	gold quality
tongue squamous epithelium	UBERON:0006919	96.52	gold quality
skin of abdomen	UBERON:0001416	96.40	gold quality
squamous epithelium	UBERON:0006914	96.36	gold quality
buccal mucosa cell	CL:0002336	96.06	gold quality
epithelium of esophagus	UBERON:0001976	95.57	gold quality
esophagus squamous epithelium	UBERON:0006920	95.57	gold quality
penis	UBERON:0000989	95.55	gold quality
gingiva	UBERON:0001828	95.55	gold quality
endothelial cell	CL:0000115	94.87	gold quality
pharyngeal mucosa	UBERON:0000355	94.84	gold quality
nipple	UBERON:0002030	94.61	gold quality
lower esophagus mucosa	UBERON:0035834	93.87	gold quality
cervix epithelium	UBERON:0004801	93.37	gold quality
oral cavity	UBERON:0000167	92.16	gold quality
esophagus mucosa	UBERON:0002469	91.98	gold quality
oviduct epithelium	UBERON:0004804	91.90	gold quality
parotid gland	UBERON:0001831	91.89	gold quality
nephron tubule	UBERON:0001231	91.88	gold quality
mammalian vulva	UBERON:0000997	91.84	gold quality
renal glomerulus	UBERON:0000074	89.80	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-MTAB-7249	yes	11.28
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

63 targeting TUFT1, 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-3120-5P	100.00	65.56	965
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-515-5P	99.92	69.82	2343
HSA-MIR-519E-5P	99.92	69.62	2358
HSA-MIR-6499-3P	99.90	66.38	1212
HSA-MIR-15A-5P	99.90	72.80	2787
HSA-MIR-15B-5P	99.90	72.78	2798
HSA-MIR-16-5P	99.90	72.80	2780
HSA-MIR-195-5P	99.90	72.81	2805
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-345-3P	99.89	70.23	1421
HSA-MIR-6838-5P	99.89	71.94	2690
HSA-MIR-3919	99.87	69.45	2489
HSA-MIR-4639-5P	99.81	67.37	1028
HSA-MIR-2052	99.79	69.37	2031
HSA-MIR-498-5P	99.76	69.64	1807
HSA-MIR-3618	99.69	68.57	1012
HSA-MIR-10394-5P	99.65	66.83	1852
HSA-MIR-1205	99.65	66.76	1826
HSA-MIR-1827	99.63	68.57	3265
HSA-MIR-513C-5P	99.50	68.42	1730
HSA-MIR-514B-5P	99.50	68.19	1766
HSA-MIR-766-3P	99.47	65.24	1811
HSA-MIR-145-3P	99.33	67.66	764
HSA-MIR-2115-3P	99.31	69.68	2026
HSA-MIR-642A-3P	99.23	67.67	1258
HSA-MIR-642B-3P	99.23	67.67	1258

Literature-anchored findings (GeneRIF, showing 20)

• Human tuftelin gene contains 13 exons and is larger than 26 kb, with two alternatively spliced tuftelin mRNA transcripts now been identified in the human tooth bud. (PMID:11733143)
• The human tuftelin gene and the expression of tuftelin in mineralizing and nonmineralizing tissues. Review. (PMID:12489194)
• The CT genotype of the tuftelin rs3790506 marker was overrepresented in cases with dmft scores higher than 5 and dmfs scores higher than 6 compared to controls. (PMID:18781068)
• We found evidence for a trend of association between genetic variation of TUFT1 and TFIP11 and MIH, which suggest these genes are potentially involved in individual predisposition to MIH. (PMID:23790503)
• the statistically significant association of rs2337359 upstream of TUFT1 with dental caries experience via meta-analysis across adult samples (p < 0.002) and the suggestive association for multiple variants in TFIP11 across child samples (PMID:25373699)
• TUFT1 may affect HIF1-Snail signaling in pancreatic neoplasms, regulating epithelial mesenchymal transition and metastasis. (PMID:27566398)
• A nonsynonymous single nucleotide variant rs41310883 in TUFT1 plays a role in chondrocyte differentiation and cartilage mineralization apparently on a calcium-related pathway, and thus can be considered as a novel susceptibility gene metatarsophalangeal osteoarthritis. (PMID:28410428)
• TUFT1 promoted the growth, metastasis and EMT of hepatocellular carcinoma (HCC) cells through activating Ca(2+)/PI3K/AKT pathway. The hypoxic microenvironment increased the expression of TUFT1 via downregulation of miR-671-5p. TUFT1 may function as a potential therapeutic target for the intervention and treatment of HCC (PMID:30250300)
• LncRNA DANCR upregulation induced by TUFT1 promotes malignant progression in triple negative breast cancer via miR-874-3p-SOX2 axis. (PMID:33058834)
• TUFT1 Facilitates Metastasis, Stemness, and Vincristine Resistance in Colorectal Cancer via Activation of PI3K/AKT Pathway. (PMID:33634374)
• [Expression of tuftelin protein and its clinical value in HBV-related liver cancer tissues]. (PMID:33979960)
• Tuftelin 1 (TUFT1) Promotes the Proliferation and Migration of Renal Cell Carcinoma via PI3K/AKT Signaling Pathway. (PMID:34257606)
• Hsa_circ_0074269-mediated Upregulation of TUFT1 Through miR-485-5p Increases Cisplatin Resistance in Cervical Cancer. (PMID:35075616)
• Tuftelin 1 Facilitates Hepatocellular Carcinoma Progression through Regulation of Lipogenesis and Focal Adhesion Maturation. (PMID:35769513)
• SUMOylation of TUFT1 is essential for gastric cancer progression through AKT/mTOR signaling pathway activation. (PMID:36380570)
• microRNA-128-3p inhibits proliferation and accelerates apoptosis of gastric cancer cells via inhibition of TUFT1. (PMID:36797791)
• Disruption of TUFT1, a Desmosome-Associated Protein, Causes Skin Fragility, Woolly Hair, and Palmoplantar Keratoderma. (PMID:37716648)
• m6A modified BACE1-AS contributes to liver metastasis and stemness-like properties in colorectal cancer through TUFT1 dependent activation of Wnt signaling. (PMID:37986103)
• [Overexpression of tuftelin and KLF-5 and its clinicopathological features in hepatitis B virus-related hepatocellular carcinoma]. (PMID:38514264)
• MiR-4319 targets tuftelin 1 to reduce malignancy of cervical cancer cells. (PMID:38650156)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	tuft1a	ENSDARG00000061242
mus_musculus	Tuft1	ENSMUSG00000005968
rattus_norvegicus	Tuft1	ENSRNOG00000020923

Paralogs (3): CCDC68 (ENSG00000166510), POLR2M (ENSG00000255529), MYZAP (ENSG00000263155)

Protein

Protein identifiers

Tuftelin — Q9NNX1 (reviewed: Q9NNX1)

All UniProt accessions (2): Q9NNX1, A6PVU8

UniProt curated annotations — full annotation on UniProt →

Function. Involved in the structural organization of the epidermis. Involved in the mineralization and structural organization of enamel.

Subunit / interactions. Interacts with TFIP11.

Subcellular location. Secreted.

Tissue specificity. Expressed in the epidermis (at protein level). Present in the extracellular enamel and is mainly associated with the crystal component.

Disease relevance. Woolly hair-skin fragility syndrome (WHSF) [MIM:620415] An autosomal recessive genodermatosis characterized by woolly hair texture with slow hair growth, and skin fragility present at birth or appearing in the neonatal period. Skin fragility then resolves or only persists as minor skin peeling, predominantly affecting the palms and soles. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the tuftelin family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q9NNX1-1	1	yes
Q9NNX1-2	2
Q9NNX1-3	3

RefSeq proteins (3): NP_001119809, NP_001288246, NP_064512* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR051375	Tuftelin_GRINL1A/MYZAP/CCD68	Family

UniProt features (10 total): coiled-coil region 2, splice variant 2, sequence variant 2, sequence conflict 2, chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NNX1-F1	76.66	0.52

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 235 (showing top): RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, MYOGENIN_Q6, JAEGER_METASTASIS_DN, PEREZ_TP63_TARGETS, GCANCTGNY_MYOD_Q6, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, NAGASHIMA_NRG1_SIGNALING_UP, GGGTGGRR_PAX4_03, SENESE_HDAC1_AND_HDAC2_TARGETS_DN, SHAFFER_IRF4_TARGETS_IN_PLASMA_CELL_VS_MATURE_B_LYMPHOCYTE, GOBP_ANIMAL_ORGAN_MORPHOGENESIS, RICKMAN_METASTASIS_DN, SRF_C, GOBP_BONE_MINERALIZATION

GO Biological Process (3): bone mineralization (GO:0030282), odontogenesis (GO:0042476), biomineral tissue development (GO:0031214)

GO Molecular Function (3): structural constituent of skin epidermis (GO:0030280), structural constituent of tooth enamel (GO:0030345), protein binding (GO:0005515)

GO Cellular Component (4): extracellular region (GO:0005576), RNA polymerase II, core complex (GO:0005665), cytoplasm (GO:0005737), I band (GO:0031674)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
ossification	1
biomineral tissue development	1
animal organ morphogenesis	1
tissue development	1
animal organ development	1
structural molecule activity	1
extracellular matrix structural constituent conferring compression resistance	1
binding	1
RNA polymerase II, holoenzyme	1
nuclear DNA-directed RNA polymerase complex	1
intracellular anatomical structure	1
sarcomere	1

Protein interactions and networks

STRING

512 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TUFT1	AMBN	Q9NP70	992
TUFT1	ENAM	Q9NRM1	981
TUFT1	TFIP11	Q9UBB9	979
TUFT1	AMELX	Q99217	908
TUFT1	DSPP	Q9NZW4	750
TUFT1	DHX15	O43143	693
TUFT1	KLK4	Q9Y5K2	667
TUFT1	MMP20	O60882	662
TUFT1	NTSR2	O95665	645
TUFT1	AMTN	Q6UX39	630
TUFT1	RABGAP1	Q9Y3P9	584
TUFT1	ODAM	A1E959	512
TUFT1	POU2F3	Q9UKI9	461
TUFT1	TRPM5	Q9NZQ8	410
TUFT1	LRFN2	Q9ULH4	403

IntAct

76 interactions, top by confidence:

A	B	Type	Score
TUFT1	TRIM27	psi-mi:“MI:0915”(physical association)	0.670
TRIM27	TUFT1	psi-mi:“MI:0915”(physical association)	0.670
TUFT1	ZYX	psi-mi:“MI:0915”(physical association)	0.670
ZMYND19	TNFAIP1	psi-mi:“MI:0914”(association)	0.670
LMO2	TUFT1	psi-mi:“MI:0915”(physical association)	0.560
KAT5	TUFT1	psi-mi:“MI:0915”(physical association)	0.560
	TUFT1	psi-mi:“MI:0915”(physical association)	0.560
CEP76	TUFT1	psi-mi:“MI:0915”(physical association)	0.560
TUFT1	KAT5	psi-mi:“MI:0915”(physical association)	0.560
TUFT1	CEP76	psi-mi:“MI:0915”(physical association)	0.560
TUFT1		psi-mi:“MI:0915”(physical association)	0.560
LMO3	TUFT1	psi-mi:“MI:0915”(physical association)	0.560
MAD2L1	PPIP5K2	psi-mi:“MI:0914”(association)	0.530
POLR2J	MED14	psi-mi:“MI:0914”(association)	0.530
Smc6	SMC5	psi-mi:“MI:0915”(physical association)	0.400
TUFT1	ABCD3	psi-mi:“MI:0915”(physical association)	0.370
NME7	TUFT1	psi-mi:“MI:0915”(physical association)	0.370
TUFT1	BIRC2	psi-mi:“MI:0915”(physical association)	0.370
ING5	CCDC85C	psi-mi:“MI:0914”(association)	0.350

BioGRID (107): TUFT1 (Two-hybrid), TUFT1 (Two-hybrid), KAT5 (Two-hybrid), CEP76 (Two-hybrid), CCDC33 (Two-hybrid), SMC6 (Affinity Capture-MS), RABGAP1 (Affinity Capture-MS), RABGAP1L (Affinity Capture-MS), ZYX (Affinity Capture-MS), CREB1 (Affinity Capture-MS), ATF1 (Affinity Capture-MS), NSMCE4A (Affinity Capture-MS), TUFT1 (Two-hybrid), TUFT1 (Two-hybrid), ZYX (Two-hybrid)

ESM2 similar proteins: A0A1W2P884, A2AM05, A2AUM9, A6PWD2, B1AJZ9, E9Q1U1, F7DP49, O08970, P0CB05, P0DO97, P27628, Q05D60, Q0KK56, Q0VF96, Q3UPP8, Q3V036, Q4KLH6, Q4L180, Q4R703, Q4R7H3, Q5R829, Q5R923, Q5SZL2, Q5U3Z6, Q68D86, Q6AW69, Q6P2H3, Q6PCQ0, Q6PHN1, Q6TFL3, Q6ZQ06, Q70FJ1, Q7M6Y5, Q8BGY3, Q8BMK0, Q8BVC4, Q8K3K8, Q8R5M4, Q90Z16, Q91365

Diamond homologs: O08970, O97557, P27628, Q9NNX1

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 65 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
Recruitment of mitotic centrosome proteins and complexes	5	14.5×	4e-03
ESR-mediated signaling	5	13.7×	4e-03
Recruitment of NuMA to mitotic centrosomes	5	12.4×	4e-03
Cell Cycle	8	6.1×	4e-03

GO biological processes:

GO term	Partners	Fold	FDR
endocytic recycling	5	21.9×	1e-03
regulation of cell cycle	7	8.6×	2e-03
protein transport	9	6.5×	2e-03
cell division	7	5.3×	9e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	0
Uncertain significance	50
Likely benign	5
Benign	2

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
2505311	NM_020127.3(TUFT1):c.564del (p.Gln189fs)	Pathogenic
2505312	NM_020127.3(TUFT1):c.60+1G>A	Pathogenic

SpliceAI

2358 predictions. Top by Δscore:

Variant	Effect	Δscore
1:151540423:GGCG:G	donor_gain	1.0000
1:151540424:GCG:G	donor_gain	1.0000
1:151540424:GCGG:G	donor_gain	1.0000
1:151540424:GCGGT:G	donor_loss	1.0000
1:151540425:CGGT:C	donor_loss	1.0000
1:151540427:G:GG	donor_gain	1.0000
1:151540427:GTAAG:G	donor_loss	1.0000
1:151540428:T:A	donor_loss	1.0000
1:151562569:A:AG	acceptor_gain	1.0000
1:151562570:T:G	acceptor_gain	1.0000
1:151562578:T:A	acceptor_gain	1.0000
1:151562579:G:A	acceptor_gain	1.0000
1:151562583:A:AG	acceptor_gain	1.0000
1:151562583:AGGCG:A	acceptor_gain	1.0000
1:151562584:G:GA	acceptor_gain	1.0000
1:151562584:GGC:G	acceptor_gain	1.0000
1:151562584:GGCGG:G	acceptor_gain	1.0000
1:151562687:G:GA	donor_loss	1.0000
1:151562688:T:A	donor_loss	1.0000
1:151563899:TTCA:T	acceptor_loss	1.0000
1:151563902:A:AG	acceptor_gain	1.0000
1:151563902:AG:A	acceptor_gain	1.0000
1:151563902:AGGT:A	acceptor_gain	1.0000
1:151563903:G:A	acceptor_loss	1.0000
1:151563903:G:GT	acceptor_gain	1.0000
1:151563903:GG:G	acceptor_gain	1.0000
1:151563903:GGT:G	acceptor_gain	1.0000
1:151563903:GGTG:G	acceptor_gain	1.0000
1:151563903:GGTGT:G	acceptor_gain	1.0000
1:151563987:GGAG:G	donor_gain	1.0000

AlphaMissense

2589 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:151578786:T:C	L295P	0.996
1:151578801:G:C	R300P	0.996
1:151579650:T:C	L309P	0.996
1:151578810:G:C	R303P	0.994
1:151579727:G:C	A335P	0.994
1:151579701:T:C	L326P	0.991
1:151579722:T:C	L333P	0.989
1:151578791:A:C	S297R	0.988
1:151578793:C:A	S297R	0.988
1:151578793:C:G	S297R	0.988
1:151578805:A:C	K301N	0.986
1:151578805:A:T	K301N	0.986
1:151578784:G:A	M294I	0.983
1:151578784:G:C	M294I	0.983
1:151578784:G:T	M294I	0.983
1:151578804:A:T	K301I	0.982
1:151578798:A:C	Q299P	0.981
1:151578803:A:G	K301E	0.978
1:151578817:G:A	M305I	0.978
1:151578817:G:C	M305I	0.978
1:151578817:G:T	M305I	0.978
1:151578774:T:C	L291S	0.976
1:151579658:T:C	S312P	0.974
1:151578756:G:C	R285P	0.972
1:151578807:T:A	V302D	0.972
1:151580961:G:C	R343P	0.972
1:151580973:T:C	L347P	0.970
1:151578816:T:C	M305T	0.969
1:151578825:A:C	Q308P	0.965
1:151578786:T:A	L295H	0.964

dbSNP variants (sampled 300 via entrez): RS1000009981 (1:151542189 T>G), RS1000011730 (1:151582874 A>G), RS1000111679 (1:151576157 A>G), RS1000164713 (1:151545059 C>T), RS1000271732 (1:151562924 C>G), RS1000365190 (1:151551545 C>T), RS1000377611 (1:151570463 G>T), RS1000396643 (1:151551881 A>T), RS1000485124 (1:151556413 C>G), RS1000642829 (1:151545266 C>T), RS1000668582 (1:151565357 C>T), RS1000689730 (1:151575544 C>A), RS1000764065 (1:151568814 A>T), RS1000774207 (1:151556164 T>C), RS1000836740 (1:151577788 C>T)

Disease associations

OMIM: gene MIM:600087 | disease phenotypes: MIM:620415

GenCC curated gene-disease

Disease	Classification	Inheritance
woolly hair-skin fragility syndrome	Strong	Autosomal recessive

Mondo (1): woolly hair-skin fragility syndrome (MONDO:0957307)

Orphanet (1): Skin fragility-woolly hair-palmoplantar keratoderma syndrome (Orphanet:293165)

HPO phenotypes

8 total (8 of 8 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000982	Palmoplantar keratoderma
HP:0001030	Fragile skin
HP:0002224	Woolly hair
HP:0003577	Congenital onset
HP:0003593	Infantile onset
HP:0032152	Keratosis pilaris
HP:0100792	Acantholysis

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST005951_38	Body mass index	4.000000e-09

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects cotreatment, increases abundance, increases expression, decreases expression	4
Acetaminophen	decreases expression, increases expression	4
(+)-JQ1 compound	increases expression	3
Air Pollutants	increases expression, affects cotreatment, decreases expression, increases abundance	3
Benzo(a)pyrene	increases expression	3
Estradiol	affects cotreatment, increases expression, affects expression	3
Tobacco Smoke Pollution	increases expression, increases methylation	3
Aflatoxin B1	increases methylation, affects expression, increases expression	3
Arsenic	increases abundance, increases expression, decreases expression, affects cotreatment	2
Cisplatin	affects cotreatment, decreases expression, increases expression	2
Silver	increases expression	2
Cyclosporine	increases expression	2
Particulate Matter	increases abundance, increases expression, decreases expression	2
aristolochic acid I	increases expression	1
methylmercuric chloride	increases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, decreases expression, increases abundance	1
trichostatin A	increases expression	1
afimoxifene	increases expression, affects reaction	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
cobaltous chloride	increases expression	1
butyraldehyde	increases expression	1
nickel chloride	increases expression	1
perfluorooctanoic acid	increases expression	1
manganese chloride	affects cotreatment, increases abundance, increases expression	1
potassium chromate(VI)	decreases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	decreases expression, affects cotreatment	1
resorcinol	decreases expression	1
methacrylaldehyde	increases abundance, affects cotreatment, decreases expression	1
perfluorooctane sulfonic acid	decreases expression	1

Clinical trials (associated diseases)

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