AFAP1

Summary

AFAP1 (actin filament associated protein 1, HGNC:24017) is a protein-coding gene on chromosome 4p16.1, encoding Actin filament-associated protein 1 (Q8N556). Can cross-link actin filaments into both network and bundle structures.

The protein encoded by this gene is a Src binding partner. It may represent a potential modulator of actin filament integrity in response to cellular signals, and may function as an adaptor protein by linking Src family members and/or other signaling proteins to actin filaments. Multiple transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 60312 — RefSeq curated summary.

At a glance

• GWAS associations: 43
• Clinical variants (ClinVar): 201 total — 1 pathogenic
• MANE Select transcript: NM_001134647

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24017
Approved symbol	AFAP1
Name	actin filament associated protein 1
Location	4p16.1
Locus type	gene with protein product
Status	Approved
Aliases	AFAP-110, AFAP
Ensembl gene	ENSG00000196526
Ensembl biotype	protein_coding
OMIM	608252
Entrez	60312

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 7 protein_coding, 4 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000358461, ENST00000360265, ENST00000382543, ENST00000420658, ENST00000505447, ENST00000508415, ENST00000513842, ENST00000513856, ENST00000612691, ENST00000614385, ENST00000934849, ENST00000934850

RefSeq mRNA: 4 — MANE Select: NM_001134647 NM_001134647, NM_001371090, NM_001371091, NM_198595

CCDS: CCDS3397, CCDS47010

Canonical transcript exons

ENST00000420658 — 18 exons

Exon	Start	End
ENSE00000702103	7800442	7800653
ENSE00001136596	7809614	7809763
ENSE00001136601	7816018	7816099
ENSE00001136608	7819076	7819171
ENSE00001136615	7838524	7838703
ENSE00001423473	7868622	7868719
ENSE00001425148	7871952	7872080
ENSE00001554586	7758714	7763791
ENSE00003483220	7781376	7781627
ENSE00003497805	7768844	7769008
ENSE00003505705	7843139	7843350
ENSE00003533497	7774739	7774903
ENSE00003544608	7855466	7855574
ENSE00003561026	7793681	7793826
ENSE00003572537	7778762	7778876
ENSE00003596096	7786194	7786311
ENSE00003653917	7772820	7773010
ENSE00003917918	7939656	7939861

Expression profiles

Bgee: expression breadth ubiquitous, 196 present calls, max score 94.34.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 25.1462 / max 250.9812, expressed in 1594 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
51302	16.5472	1567
51300	3.4234	1032
51303	1.6268	1076
51301	1.4417	868
51297	1.2141	365
51299	0.7541	431
51296	0.1390	63

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
stromal cell of endometrium	CL:0002255	94.34	gold quality
cortical plate	UBERON:0005343	92.98	gold quality
sural nerve	UBERON:0015488	90.20	gold quality
right testis	UBERON:0004534	87.50	gold quality
left testis	UBERON:0004533	87.39	gold quality
ganglionic eminence	UBERON:0004023	86.43	gold quality
testis	UBERON:0000473	84.46	gold quality
muscle layer of sigmoid colon	UBERON:0035805	84.11	gold quality
colonic epithelium	UBERON:0000397	83.98	gold quality
popliteal artery	UBERON:0002250	83.66	gold quality
tibial artery	UBERON:0007610	83.66	gold quality
lower esophagus muscularis layer	UBERON:0035833	83.47	gold quality
lower esophagus	UBERON:0013473	83.44	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	83.00	gold quality
aorta	UBERON:0000947	82.67	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	82.64	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	82.29	gold quality
body of uterus	UBERON:0009853	82.08	gold quality
right coronary artery	UBERON:0001625	81.89	gold quality
ascending aorta	UBERON:0001496	81.74	gold quality
thoracic aorta	UBERON:0001515	81.69	gold quality
germinal epithelium of ovary	UBERON:0001304	81.07	silver quality
rectum	UBERON:0001052	80.82	gold quality
left coronary artery	UBERON:0001626	80.71	gold quality
smooth muscle tissue	UBERON:0001135	80.62	gold quality
gall bladder	UBERON:0002110	80.55	gold quality
omental fat pad	UBERON:0010414	80.24	gold quality
peritoneum	UBERON:0002358	80.13	gold quality
descending thoracic aorta	UBERON:0002345	80.10	gold quality
right atrium auricular region	UBERON:0006631	80.04	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-MTAB-6701	yes	77.46
E-ANND-3	yes	6.76
E-CURD-10	no	82.48

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 12)

• AFAP-110 is required for actin stress fiber formation and cell adhesion in MDA-MB 231 breast cancer cells. (PMID:17520695)
• Methylation of the long noncoding RNA AFAP1-AS1 is reduced in BE and EAC, and its expression inhibits cancer-related biologic functions of EAC cells. (PMID:23333711)
• Data indicate three loci associated with primary open-angle glaucoma (POAG) were located upstream of ATP binding cassette transporter 1 (ABCA1), within actin filament associated protein 1 (AFAP1) and within GDP-mannose 46-dehydratase (GMDS). (PMID:25173105)
• The genotype frequencies of six SNPs in AFAP1, GMDS and PTGFR genes were conformed to Hardy-Weinberg equilibrium (HWE). (PMID:27862086)
• AFAP-1 is a key mediator in the inflammatory signaling-induced, translocation-independent attenuation of P-glycoprotein efflux in brain capillary endothelial cells. (PMID:28112407)
• The observed up-regulation of AFAP1-AS1 in tumor samples compared with ANCTs implies its involvement in breast cancer pathogenesis and potentiates it as a biomarker or therapeutic target. (PMID:29439313)
• The high LncRNA AFAP1-AS1 expression was significantly related to advanced clinical stage, larger tumor size, earlier tumor metastasis, earlier lymph nodal involvement and vascular invasion. High LncRNA AFAP1-AS1 expression was an unfavorable prognostic factor in various cancers. (PMID:29544748)
• e experiment in vitro suggested down-regulation of AFAP1-AS1 inhibited retinoblastoma cell proliferation, migration and invasion, and blocked cell cycle. In conclusion, AFAP1-AS1 functions as an oncogenic lncRNA in retinoblastoma. (PMID:29654169)
• Authors determined that AFAP1-AS1 functions as a competing endogenous RNA in NPC to regulate the Rho/Rac pathway through miR-423-5p. (PMID:30326930)
• The expression of AFAP1-AS1 was high in the oral squamous cell carcinoma tissues and SCC25 cells and is associated with the development and prognosis of oral squamous cell carcinoma (PMID:31875436)
• Long non-coding RNA AFAP1-AS1 promotes proliferation and migration of gastric cancer by downregulating KLF2. (PMID:32016968)
• [Knockdown of long non-coding RNA actin filament-associated protein 1 antisense RNA1 (AFAP1-AS1) inhibits epithelial-mesenchymal transition, invasion and migration of TPC-1 papillary thyroid cancer cells]. (PMID:33441229)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	afap1	ENSDARG00000055284
mus_musculus	Afap1	ENSMUSG00000029094
rattus_norvegicus	Afap1	ENSRNOG00000060665

Paralogs (2): AFAP1L1 (ENSG00000157510), AFAP1L2 (ENSG00000169129)

Protein

Protein identifiers

Actin filament-associated protein 1 — Q8N556 (reviewed: Q8N556)

Alternative names: 110 kDa actin filament-associated protein

All UniProt accessions (2): A0A087X177, Q8N556

UniProt curated annotations — full annotation on UniProt →

Function. Can cross-link actin filaments into both network and bundle structures. May modulate changes in actin filament integrity and induce lamellipodia formation. May function as an adapter molecule that links other proteins, such as SRC and PKC to the actin cytoskeleton. Seems to play a role in the development and progression of prostate adenocarcinoma by regulating cell-matrix adhesions and migration in the cancer cells.

Subunit / interactions. Monomer and homomultimer. Interacts via its C-terminus with F-actin; probably involving AFAP1 multimers. Interacts with activated SRC SH3-SH2 domains. Interacts via its PH 1 domain with PRKCA, PRKCB and PRKCI.

Subcellular location. Cytoplasm. Cytoskeleton. Stress fiber.

Tissue specificity. Low expression in normal breast epithelial cell line MCF-10A and in tumorigenic breast cancer cell lines MCF-7, T-47D and ZR-75-1. Highly expressed in the invasive breast cancer cell lines MDA-MB-231 and MDA-MB-435. Overexpressed in prostate carcinoma.

Post-translational modifications. Phosphorylated on tyrosine residues by SRC.

Miscellaneous. Knockdown in MDA-MB-231 cells resulted in loss of actin stress fibers, decreased adhesion and spreading on fibronectin.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8N556-1	1	yes
Q8N556-2	2

RefSeq proteins (4): NP_001128119, NP_001358019, NP_001358020, NP_940997 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001849	PH_domain	Domain
IPR011993	PH-like_dom_sf	Homologous_superfamily
IPR030113	AFAP	Family

Pfam: PF00169

UniProt features (39 total): modified residue 10, mutagenesis site 7, region of interest 5, sequence conflict 5, short sequence motif 3, domain 2, compositionally biased region 2, sequence variant 2, chain 1, splice variant 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N556-F1	67.09	0.31

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 (10): 1, 282, 283, 548, 664, 665, 668, 675, 679, 687

Mutagenesis-validated functional residues (7):

Position	Phenotype
71	decreased tyrosine phosphorylation.
77	no effect on tyrosine phosphorylation.
93	reduces phosphorylation and phosphorylation of src at y-416; when associated with f-94; f-125; f-451 and f-453.
94	reduces phosphorylation and phosphorylation of src at y-416; when associated with f-93; f-125; f-451 and f-453.
125	reduces phosphorylation and phosphorylation of src at y-416; when associated with f-93; f-94; f-451 and f-453.
451	reduces phosphorylation and phosphorylation of src at y-416; when associated with f-93; f-94; f-125 and f-453.
453	reduces phosphorylation and phosphorylation of src at y-416; when associated with f-93; f-94; f-125 and f-451.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 145 (showing top): KAAB_HEART_ATRIUM_VS_VENTRICLE_UP, MODULE_493, DACOSTA_UV_RESPONSE_VIA_ERCC3_COMMON_DN, GOBP_SECRETION, chr4p16, GOBP_MAMMARY_GLAND_DEVELOPMENT, MODULE_157, GOBP_LIPID_METABOLIC_PROCESS, NAKAMURA_TUMOR_ZONE_PERIPHERAL_VS_CENTRAL_DN, DODD_NASOPHARYNGEAL_CARCINOMA_UP, HOEGERKORP_CD44_TARGETS_DIRECT_UP, GOBP_LIPID_BIOSYNTHETIC_PROCESS, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, GOMF_ACTIN_BINDING, GOBP_BODY_FLUID_SECRETION

GO Biological Process (1): regulation of signal transduction (GO:0009966)

GO Molecular Function (1): actin binding (GO:0003779)

GO Cellular Component (7): stress fiber (GO:0001725), cytosol (GO:0005829), actin filament (GO:0005884), focal adhesion (GO:0005925), actin cytoskeleton (GO:0015629), cytoplasm (GO:0005737), cytoskeleton (GO:0005856)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
signal transduction	1
regulation of cell communication	1
regulation of signaling	1
regulation of response to stimulus	1
cytoskeletal protein binding	1
actomyosin	1
contractile actin filament bundle	1
cytoplasm	1
actin cytoskeleton	1
polymeric cytoskeletal fiber	1
cell-substrate junction	1
cytoskeleton	1
intracellular anatomical structure	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

780 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
AFAP1	SRC	P12931	963
AFAP1	GMDS	O60547	660
AFAP1	MUTYH	Q9UIF7	625
AFAP1	TMCO1	Q9UM00	617
AFAP1	PLEK	P08567	616
AFAP1	GAS7	O60861	574
AFAP1	PTGDR	Q13258	570
AFAP1	RB1	P06400	549
AFAP1	SH3TC1	Q8TE82	538
AFAP1	ABLIM2	Q6H8Q1	533
AFAP1	HCLS1	P14317	524
AFAP1	SIX6	O95475	523
AFAP1	CTTN	Q14247	519
AFAP1	PLEK2	Q9NYT0	506
AFAP1	EZH2	Q15910	499

IntAct

54 interactions, top by confidence:

A	B	Type	Score
Tpx2	NFKBIE	psi-mi:“MI:0914”(association)	0.350
Ppp1cb	MYO1C	psi-mi:“MI:0914”(association)	0.350
TPX2	AFAP1	psi-mi:“MI:0914”(association)	0.350
Rab5b	XPO1	psi-mi:“MI:0914”(association)	0.350
MYH9	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
ANLN	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
Flot1	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
Flot2	ACTG1	psi-mi:“MI:0914”(association)	0.350
MYO18A	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
MYO1C	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
MYO19	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
FLNA	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
Myh10	LMO7	psi-mi:“MI:0914”(association)	0.350
Actb		psi-mi:“MI:0914”(association)	0.350
Flnb	RPL22	psi-mi:“MI:0914”(association)	0.350
Lima1	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
LIMA1	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
Calml3	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
Tmod3	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
Tpm1	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
Coro1c	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
DBN1	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
SYNPO	LMO7	psi-mi:“MI:0914”(association)	0.350
MAPRE1	CTNNB1	psi-mi:“MI:0914”(association)	0.350
Myh9	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
Myo1c	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
Myh9	GOSR1	psi-mi:“MI:0914”(association)	0.350
MYH9	NAP1L1	psi-mi:“MI:0914”(association)	0.350
Myh10	NAP1L1	psi-mi:“MI:0914”(association)	0.350
MYO5C	CLIC1	psi-mi:“MI:0914”(association)	0.350

BioGRID (87): AFAP1 (Affinity Capture-RNA), AFAP1 (Affinity Capture-MS), AFAP1 (Affinity Capture-MS), AFAP1 (Affinity Capture-MS), AFAP1 (Affinity Capture-MS), AFAP1 (Affinity Capture-MS), AFAP1 (Affinity Capture-MS), AFAP1 (Affinity Capture-MS), AFAP1 (Affinity Capture-MS), AFAP1 (Affinity Capture-MS), AFAP1 (Affinity Capture-MS), AFAP1 (Affinity Capture-MS), AFAP1 (Affinity Capture-MS), AFAP1 (Affinity Capture-MS), AFAP1 (Affinity Capture-MS)

ESM2 similar proteins: A0JN71, A4IFK0, A5PMU4, A6QQV9, O15034, O15040, O62666, O62674, O62675, O62676, O62677, O62678, O75995, P49796, P52734, P59672, P78314, P97432, P98174, Q06649, Q0V8R5, Q13905, Q14596, Q3U0J8, Q501R9, Q53GL0, Q5BJM5, Q5F3C8, Q5RC94, Q5SUE8, Q6AI12, Q6ZMT1, Q7Z5H3, Q80U40, Q80UZ0, Q80XA6, Q80YS6, Q8BL80, Q8K352, Q8N556

Diamond homologs: A6QQV9, D4AB98, F7EL49, Q17R10, Q4V8Y7, Q5DTU0, Q6PF55, Q80YS6, Q8BZI0, Q8N4X5, Q8N556, Q8TED9, Q8VH46, Q90738

SIGNOR signaling

4 interactions.

A	Effect	B	Mechanism
SRC	unknown	AFAP1	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 68 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
Diseases of signal transduction by growth factor receptors and second messengers	7	9.7×	2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	156
Likely benign	10
Benign	2

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
1711164	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	Pathogenic

SpliceAI

3674 predictions. Top by Δscore:

Variant	Effect	Δscore
4:7768838:GCTTA:G	donor_loss	1.0000
4:7768839:CTTA:C	donor_loss	1.0000
4:7768840:TTA:T	donor_loss	1.0000
4:7768841:TACCT:T	donor_loss	1.0000
4:7768842:ACCTT:A	donor_loss	1.0000
4:7768843:C:T	donor_loss	1.0000
4:7769009:C:CC	acceptor_gain	1.0000
4:7769010:T:C	acceptor_gain	1.0000
4:7769010:T:TC	acceptor_gain	1.0000
4:7773011:C:CC	acceptor_gain	1.0000
4:7774726:ACAC:A	donor_gain	1.0000
4:7774727:CACC:C	donor_gain	1.0000
4:7774734:CATA:C	donor_loss	1.0000
4:7774735:ATACC:A	donor_loss	1.0000
4:7774736:TACCG:T	donor_loss	1.0000
4:7774737:A:AC	donor_gain	1.0000
4:7774737:A:C	donor_loss	1.0000
4:7774738:C:A	donor_loss	1.0000
4:7774738:C:CC	donor_gain	1.0000
4:7774738:CCGG:C	donor_gain	1.0000
4:7774750:T:TA	donor_gain	1.0000
4:7774777:T:TA	donor_gain	1.0000
4:7774899:AGCAT:A	acceptor_gain	1.0000
4:7774900:GCAT:G	acceptor_gain	1.0000
4:7774900:GCATC:G	acceptor_gain	1.0000
4:7774901:CAT:C	acceptor_gain	1.0000
4:7774901:CATC:C	acceptor_gain	1.0000
4:7774902:AT:A	acceptor_gain	1.0000
4:7774902:ATC:A	acceptor_loss	1.0000
4:7774902:ATCTT:A	acceptor_gain	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000038756 (4:7822621 G>T), RS1000039660 (4:7915244 G>A,T), RS1000041405 (4:7773609 T>G), RS1000053554 (4:7788256 A>G), RS1000053658 (4:7909505 T>C), RS10000569 (4:7802743 G>A), RS1000059153 (4:7770203 A>G), RS1000062203 (4:7788952 G>A,T), RS1000068695 (4:7866837 G>C), RS1000085365 (4:7794114 A>C), RS1000090312 (4:7915078 T>G), RS1000108839 (4:7823547 C>A,T), RS1000136565 (4:7766981 G>C), RS10001508 (4:7815761 T>C), RS1000168964 (4:7871541 G>A,C,T)

Disease associations

OMIM: gene MIM:608252 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

43 associations (top):

Study	Trait	p-value
GCST002582_2	Glaucoma (primary open-angle)	7.000000e-10
GCST002936_12	Cadmium levels	9.000000e-06
GCST003264_838	Post bronchodilator FEV1/FVC ratio	9.000000e-07
GCST003745_2	Glaucoma (primary open-angle)	2.000000e-06
GCST005170_36	Intraocular pressure	6.000000e-21
GCST005388_4	Glaucoma (primary open-angle)	7.000000e-06
GCST005580_112	Intraocular pressure	2.000000e-34
GCST005580_135	Intraocular pressure	1.000000e-39
GCST006022_1	Pulse pressure	1.000000e-07
GCST006065_32	Glaucoma (primary open-angle)	6.000000e-27
GCST006066_2	Glaucoma (primary open-angle)	1.000000e-16
GCST006067_3	Glaucoma (primary open-angle)	2.000000e-18
GCST006394_39	Intraocular pressure	5.000000e-18
GCST006394_40	Intraocular pressure	2.000000e-34
GCST006395_16	Glaucoma	2.000000e-20
GCST006395_36	Glaucoma	3.000000e-14
GCST006395_42	Glaucoma	2.000000e-11
GCST006412_28	Intraocular pressure	2.000000e-34
GCST006412_41	Intraocular pressure	9.000000e-41
GCST006479_88	Diverticular disease	2.000000e-06
GCST006482_19	Lung function (FEV1/FVC)	2.000000e-09
GCST006482_20	Lung function (FEV1/FVC)	8.000000e-09
GCST006482_21	Lung function (FEV1/FVC)	2.000000e-09
GCST007059_1	Response to antidepressants (symptom improvement)	2.000000e-06
GCST007431_89	Lung function (FEV1/FVC)	2.000000e-12
GCST007944_11	Medication use (antiglaucoma preparations and miotics)	4.000000e-09
GCST008361_3	Response to cognitive-behavioural therapy in major depressive disorder	2.000000e-06
GCST008391_2	Glaucoma (primary open-angle)	4.000000e-06
GCST009367_9	HDL cholesterol levels x short total sleep time interaction (2df test)	1.000000e-09
GCST009722_15	Glaucoma (multi-trait analysis)	6.000000e-42

EFO canonical traits (8, from GWAS)

EFO ID	Trait name
EFO:0004713	FEV/FVC ratio
EFO:0004695	intraocular pressure measurement
EFO:0005763	pulse pressure measurement
EFO:0009959	diverticular disease
EFO:0009944	Antiglaucoma preparations and miotics use measurement
EFO:0007820	cognitive behavioural therapy
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0004346	neuroimaging measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression	6
Particulate Matter	increases abundance, affects cotreatment, decreases expression	4
Benzo(a)pyrene	affects methylation, decreases expression, increases methylation	3
trichostatin A	increases expression, affects cotreatment	2
Air Pollutants	increases abundance, decreases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Tobacco Smoke Pollution	decreases expression, increases methylation	2
Tretinoin	decreases expression, increases expression	2
Aflatoxin B1	decreases methylation, increases methylation	2
Cadmium Chloride	increases expression	2
aristolochic acid I	decreases expression	1
FR900359	affects phosphorylation	1
dicrotophos	increases expression	1
triphenyl phosphate	affects expression	1
pirinixic acid	increases activity, increases expression, affects binding	1
bisphenol A	increases expression, affects cotreatment	1
ethyl-p-hydroxybenzoate	increases expression	1
terbufos	increases methylation	1
tris(2-butoxyethyl) phosphate	affects expression	1
arsenite	affects binding, decreases reaction	1
cobaltous chloride	decreases expression	1
benzo(e)pyrene	decreases methylation	1
potassium chromate(VI)	decreases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, decreases expression	1
aflatoxin B2	decreases methylation, increases methylation	1
coumarin	affects phosphorylation	1
hydroquinone	decreases expression	1
avobenzone	increases expression	1
CGP 52608	affects binding, increases reaction	1
perfluoro-n-nonanoic acid	increases expression	1

Clinical trials (associated diseases)

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