TFAP2D

Summary

TFAP2D (transcription factor AP-2 delta, HGNC:15581) is a protein-coding gene on chromosome 6p12.3, encoding Transcription factor AP-2-delta (Q7Z6R9). Sequence-specific DNA-binding protein that interacts with inducible viral and cellular enhancer elements to regulate transcription of selected genes.

Predicted to enable DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Predicted to be involved in positive regulation of transcription by RNA polymerase II and regulation of cell population proliferation. Predicted to act upstream of or within inferior colliculus development; negative regulation of neuron apoptotic process; and positive regulation of DNA-templated transcription. Predicted to be located in chromatin. Predicted to be part of transcription regulator complex. Predicted to be active in nucleus.

Source: NCBI Gene 83741 — RefSeq curated summary.

At a glance

• GWAS associations: 21
• Clinical variants (ClinVar): 51 total
• Transcription factor: yes — 10 downstream targets (CollecTRI)
• MANE Select transcript: NM_172238

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15581
Approved symbol	TFAP2D
Name	transcription factor AP-2 delta
Location	6p12.3
Locus type	gene with protein product
Status	Approved
Aliases	AP-2delta
Ensembl gene	ENSG00000008197
Ensembl biotype	protein_coding
OMIM	610161
Entrez	83741

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 1 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000008391, ENST00000492804

RefSeq mRNA: 1 — MANE Select: NM_172238 NM_172238

CCDS: CCDS4933

Canonical transcript exons

ENST00000008391 — 8 exons

Exon	Start	End
ENSE00000619431	50772645	50773033
ENSE00000755845	50751211	50751324
ENSE00000850455	50715116	50715613
ENSE00001843453	50713526	50714094
ENSE00003586156	50729194	50729312
ENSE00003591703	50745107	50745248
ENSE00003617707	50728856	50729021
ENSE00003689240	50719090	50719150

Expression profiles

Bgee: expression breadth broad, 25 present calls, max score 90.48.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
oocyte	CL:0000023	90.48	gold quality
buccal mucosa cell	CL:0002336	88.17	silver quality
secondary oocyte	CL:0000655	86.52	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	83.58	silver quality
kidney epithelium	UBERON:0004819	73.78	gold quality
pancreatic ductal cell	CL:0002079	71.51	silver quality
upper arm skin	UBERON:0004263	70.37	gold quality
cardiac muscle of right atrium	UBERON:0003379	68.64	gold quality
left ventricle myocardium	UBERON:0006566	67.81	gold quality
nasal cavity epithelium	UBERON:0005384	67.32	gold quality
myocardium	UBERON:0002349	64.85	gold quality
ganglionic eminence	UBERON:0004023	60.78	gold quality
quadriceps femoris	UBERON:0001377	59.48	gold quality
vastus lateralis	UBERON:0001379	58.96	gold quality
superficial temporal artery	UBERON:0001614	58.65	gold quality
tendon of biceps brachii	UBERON:0008188	58.35	gold quality
ventral tegmental area	UBERON:0002691	57.67	silver quality
heart right ventricle	UBERON:0002080	57.52	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	57.51	gold quality
tibialis anterior	UBERON:0001385	56.68	silver quality
endothelial cell	CL:0000115	56.67	gold quality
epithelial cell of pancreas	CL:0000083	56.05	gold quality
ileal mucosa	UBERON:0000331	55.90	silver quality
pericardium	UBERON:0002407	55.74	gold quality
amygdala	UBERON:0001876	54.73	gold quality
parotid gland	UBERON:0001831	54.63	gold quality
deltoid	UBERON:0001476	54.21	gold quality
parietal pleura	UBERON:0002400	53.60	gold quality
lateral nuclear group of thalamus	UBERON:0002736	53.42	gold quality
visceral pleura	UBERON:0002401	53.22	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.61

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

10 targets.

Target	Regulation
BHLHE23	Activation
CALB2	Unknown
CAT
CSTA
ERBB3
OPRM1
POU4F1
POU4F3	Activation
ST8SIA2	Activation
ST8SIA4

Upstream regulators (CollecTRI, top): TFAP2A

miRNA regulators (miRDB)

48 targeting TFAP2D, 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-5011-5P	100.00	83.46	5820
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-3617-3P	99.98	67.86	918
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-2110	99.96	66.68	1930
HSA-MIR-6755-5P	99.95	65.59	464
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-497-5P	99.92	71.83	2674
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-153-5P	99.89	73.86	6317
HSA-MIR-6838-5P	99.89	71.94	2690
HSA-MIR-424-5P	99.89	71.90	2641
HSA-MIR-4271	99.88	68.32	2244
HSA-MIR-579-3P	99.86	71.66	3628
HSA-MIR-664B-3P	99.84	71.65	3590
HSA-MIR-3121-3P	99.82	71.96	3630
HSA-MIR-1299	99.77	71.24	2389
HSA-MIR-875-3P	99.63	69.47	2548
HSA-MIR-4696	99.48	67.48	1040
HSA-MIR-133A-3P	99.27	71.53	1270
HSA-MIR-133B	99.27	71.53	1270
HSA-MIR-324-3P	99.26	66.31	1034
HSA-MIR-4291	99.20	68.88	2969

Literature-anchored findings (GeneRIF, showing 6)

• cloning and characterization of a novel human transcription factor AP-2 like gene (TFAP2BL1), which is located on human chromosome 6p12.1-21.1 (PMID:11733187)
• Taken together, these results suggest that AP-2epsilon and Ets-1 are involved in the regulation of integrin alpha10 transcription in chondrocytes. (PMID:16684505)
• Ap-2delta was identified as a new activating transcription factor of HMOX1. (PMID:24789576)
• A polymorphic Alu in the flanking region of the TFAP2B and TFAP2D genes has been identified. The new insert was found in higher frequency in Europeans (0.4) and Asians (0.38) and lower frequency in Africans (0.25). (PMID:30975199)
• Upregulation of the transcription factor TFAP2D is associated with aggressive tumor phenotype in prostate cancer lacking the TMPRSS2:ERG fusion. (PMID:32143573)
• AP-2delta Is the Most Relevant Target of AP-2 Family-Focused Cancer Therapy and Affects Genome Organization. (PMID:36552887)

Cross-species orthologs

8 orthologs

Organism	Symbol	Gene ID
danio_rerio	tfap2d	ENSDARG00000023272
mus_musculus	Tfap2d	ENSMUSG00000042596
rattus_norvegicus	Tfap2d	ENSRNOG00000011642
drosophila_melanogaster	TfAP-2	FBGN0261953
caenorhabditis_elegans		WBGENE00009202
caenorhabditis_elegans		WBGENE00009203
caenorhabditis_elegans		WBGENE00013383
caenorhabditis_elegans		WBGENE00019424

Paralogs (4): TFAP2B (ENSG00000008196), TFAP2C (ENSG00000087510), TFAP2E (ENSG00000116819), TFAP2A (ENSG00000137203)

Protein

Protein identifiers

Transcription factor AP-2-delta — Q7Z6R9 (reviewed: Q7Z6R9)

Alternative names: Activating enhancer-binding protein 2-delta, Transcription factor AP-2-beta-like 1

All UniProt accessions (1): Q7Z6R9

UniProt curated annotations — full annotation on UniProt →

Function. Sequence-specific DNA-binding protein that interacts with inducible viral and cellular enhancer elements to regulate transcription of selected genes. AP-2 factors bind to the consensus sequence 5’-GCCNNNGGC-3’ and activate genes involved in a large spectrum of important biological functions including proper eye, face, body wall, limb and neural tube development. They also suppress a number of genes including MCAM/MUC18, C/EBP alpha and MYC.

Subunit / interactions. Binds DNA as a dimer. Can form homodimers or heterodimers with other AP-2 family members.

Subcellular location. Nucleus.

Tissue specificity. Highly expressed in brain, placenta, skeletal muscle, thymus, small intestine, and prostate, and expressed at lower levels in leukocyte, spleen, testis, ovary and colon. Barely detectable in heart, kidney, liver, lung or pancreas.

Similarity. Belongs to the AP-2 family.

RefSeq proteins (1): NP_758438* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR004979	TF_AP2	Family
IPR013854	TF_AP2_C	Domain

Pfam: PF03299

UniProt features (8 total): region of interest 2, sequence conflict 2, chain 1, compositionally biased region 1, modified residue 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q7Z6R9-F1	62.75	0.32

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): 239

Function

Pathways and Gene Ontology

Reactome pathways

6 pathways

ID	Pathway
R-HSA-8866904	Negative regulation of activity of TFAP2 (AP-2) family transcription factors
R-HSA-8866907	Activation of the TFAP2 (AP-2) family of transcription factors
R-HSA-212436	Generic Transcription Pathway
R-HSA-73857	RNA Polymerase II Transcription
R-HSA-74160	Gene expression (Transcription)
R-HSA-8864260	Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors

MSigDB gene sets: 124 (showing top): GOBP_NEGATIVE_REGULATION_OF_NEURON_APOPTOTIC_PROCESS, BENPORATH_ES_WITH_H3K27ME3, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, GGGNRMNNYCAT_UNKNOWN, NKX25_02, TAL1ALPHAE47_01, LHX3_01, SRF_Q5_01, CEBP_Q2, SRF_C, chr6p12, TGCTGAY_UNKNOWN, OCT1_03, GATA6_01, GOBP_MIDBRAIN_DEVELOPMENT

GO Biological Process (7): transcription by RNA polymerase II (GO:0006366), regulation of cell population proliferation (GO:0042127), negative regulation of neuron apoptotic process (GO:0043524), positive regulation of transcription by RNA polymerase II (GO:0045944), inferior colliculus development (GO:0061379), regulation of DNA-templated transcription (GO:0006355), positive regulation of DNA-templated transcription (GO:0045893)

GO Molecular Function (6): RNA polymerase II transcription regulatory region sequence-specific DNA binding (GO:0000977), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228), DNA binding (GO:0003677), DNA-binding transcription factor activity (GO:0003700), protein binding (GO:0005515)

GO Cellular Component (3): chromatin (GO:0000785), nucleus (GO:0005634), transcription regulator complex (GO:0005667)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors	2
RNA Polymerase II Transcription	1
Gene expression (Transcription)	1
Generic Transcription Pathway	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
DNA-templated transcription	3
regulation of transcription by RNA polymerase II	2
regulation of DNA-templated transcription	2
transcription cis-regulatory region binding	2
RNA polymerase II transcription regulatory region sequence-specific DNA binding	2
cell population proliferation	1
regulation of cellular process	1
negative regulation of apoptotic process	1
regulation of neuron apoptotic process	1
neuron apoptotic process	1
transcription by RNA polymerase II	1
positive regulation of DNA-templated transcription	1
anatomical structure development	1
corpora quadrigemina development	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
positive regulation of RNA biosynthetic process	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
nucleic acid binding	1
transcription regulator activity	1
binding	1
chromosome	1
cellular anatomical structure	1
intracellular membrane-bounded organelle	1
protein-containing complex	1

Protein interactions and networks

STRING

616 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TFAP2D	SPATA4	Q8NEY3	447
TFAP2D	ZCCHC3	Q9NUD5	433
TFAP2D	AGPAT5	Q9NUQ2	425
TFAP2D	NPIPB6	E9PJ23	419
TFAP2D	DEFB123	Q8N688	395
TFAP2D	FRMD6	Q96NE9	376
TFAP2D	PGK2	P07205	369
TFAP2D	TMCO5A	Q8N6Q1	364
TFAP2D	MYC	P01106	359
TFAP2D	ZBTB33	Q86T24	357
TFAP2D	LYRM4	Q9HD34	355
TFAP2D	BCL2L1	Q07817	353
TFAP2D	CFAP58	Q5T655	352
TFAP2D	TRIB3	Q96RU7	347
TFAP2D	GCNT7	Q6ZNI0	341

IntAct

217 interactions, top by confidence:

A	B	Type	Score
TFAP2D	TEPSIN	psi-mi:“MI:0915”(physical association)	0.560
TFAP2D	AGR2	psi-mi:“MI:0915”(physical association)	0.560
TFAP2D	SLAIN1	psi-mi:“MI:0915”(physical association)	0.560
TFAP2D	KRTAP19-2	psi-mi:“MI:0915”(physical association)	0.560
USP54	TFAP2D	psi-mi:“MI:0915”(physical association)	0.560
CYSRT1	TFAP2D	psi-mi:“MI:0915”(physical association)	0.560
PLEKHG4	TFAP2D	psi-mi:“MI:0915”(physical association)	0.560
KRTAP10-8	TFAP2D	psi-mi:“MI:0915”(physical association)	0.560
KRTAP1-3	TFAP2D	psi-mi:“MI:0915”(physical association)	0.560
KRTAP1-1	TFAP2D	psi-mi:“MI:0915”(physical association)	0.560
KRTAP12-3	TFAP2D	psi-mi:“MI:0915”(physical association)	0.560
TNS2	TFAP2D	psi-mi:“MI:0915”(physical association)	0.560
TFAP2D	KRTAP9-3	psi-mi:“MI:0915”(physical association)	0.560
TFAP2D	GUCD1	psi-mi:“MI:0915”(physical association)	0.560
ADAMTSL4	TFAP2D	psi-mi:“MI:0915”(physical association)	0.560
KRT31	TFAP2D	psi-mi:“MI:0915”(physical association)	0.560
GYS1	TFAP2D	psi-mi:“MI:0915”(physical association)	0.560
TFAP2D	KRTAP2-4	psi-mi:“MI:0915”(physical association)	0.560
TFAP2D	CAMK2A	psi-mi:“MI:0915”(physical association)	0.560
BAG4	TFAP2D	psi-mi:“MI:0915”(physical association)	0.560
TFAP2D	KRTAP9-2	psi-mi:“MI:0915”(physical association)	0.560
TLE5	TFAP2D	psi-mi:“MI:0915”(physical association)	0.560
TFAP2D	CARD10	psi-mi:“MI:0915”(physical association)	0.560
KRTAP10-7	TFAP2D	psi-mi:“MI:0915”(physical association)	0.560
OIP5	TFAP2D	psi-mi:“MI:0915”(physical association)	0.560
INCA1	TFAP2D	psi-mi:“MI:0915”(physical association)	0.560
ADAM12	TFAP2D	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (78): TFAP2D (Affinity Capture-MS), TFAP2D (Affinity Capture-MS), AKAP8L (Two-hybrid), ZBTB32 (Two-hybrid), FAM168A (Two-hybrid), TRAF1 (Two-hybrid), ZMYND12 (Two-hybrid), PITX1 (Two-hybrid), CAMK2A (Two-hybrid), MLH1 (Two-hybrid), KLHL20 (Two-hybrid), KRT31 (Two-hybrid), CARD10 (Two-hybrid), CEP76 (Two-hybrid), OIP5 (Two-hybrid)

ESM2 similar proteins: A1A4R9, A9CB91, O54835, O70436, P05549, P06435, P08651, P09286, P09414, P0C734, P11823, P11824, P13623, P17923, P19893, P21999, P30119, P34056, P42003, P58197, P70257, Q02780, Q09585, Q0ZME3, Q12857, Q14938, Q14EA6, Q15796, Q1HVD3, Q1W668, Q2T9K2, Q3KPS4, Q5R7C0, Q5RJ20, Q61312, Q61313, Q62432, Q6SW29, Q6SWP7, Q76HI7

Diamond homologs: A1A4R9, P05549, P34056, P58197, Q09585, Q2T9K2, Q5RJ20, Q61312, Q61313, Q6P0E7, Q6VUC0, Q6VUP9, Q76HI7, Q7Z6R9, Q91ZK0, Q92481, Q92754, Q9N0N3, G2HK15

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
TFAP2D	“up-regulates quantity by expression”	ST8SIA2	“transcriptional regulation”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 63 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	19	25.8×	1e-20

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	46
Likely benign	1
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

945 predictions. Top by Δscore:

Variant	Effect	Δscore
6:50715614:G:GA	donor_loss	1.0000
6:50715615:T:G	donor_loss	1.0000
6:50719087:AAG:A	acceptor_gain	1.0000
6:50745249:G:GG	donor_gain	1.0000
6:50751207:TTAG:T	acceptor_loss	1.0000
6:50751208:TAGAC:T	acceptor_loss	1.0000
6:50751209:A:AG	acceptor_gain	1.0000
6:50751209:AG:A	acceptor_loss	1.0000
6:50751210:G:GA	acceptor_gain	1.0000
6:50751210:GAC:G	acceptor_gain	1.0000
6:50751210:GACA:G	acceptor_gain	1.0000
6:50751210:GACAA:G	acceptor_gain	1.0000
6:50751321:TCAG:T	donor_loss	1.0000
6:50751322:CAGGT:C	donor_loss	1.0000
6:50751326:T:A	donor_loss	1.0000
6:50772643:A:AG	acceptor_gain	1.0000
6:50772643:AGTTT:A	acceptor_gain	1.0000
6:50772644:G:GG	acceptor_gain	1.0000
6:50772644:GTTTG:G	acceptor_gain	1.0000
6:50715610:GCAG:G	donor_gain	0.9900
6:50719085:TTAA:T	acceptor_loss	0.9900
6:50719087:A:AG	acceptor_gain	0.9900
6:50719087:AAGG:A	acceptor_gain	0.9900
6:50719088:A:G	acceptor_gain	0.9900
6:50719088:A:T	acceptor_loss	0.9900
6:50719088:AG:A	acceptor_gain	0.9900
6:50719089:G:A	acceptor_gain	0.9900
6:50719089:G:T	acceptor_loss	0.9900
6:50719148:GAG:G	donor_gain	0.9900
6:50719149:AGG:A	donor_loss	0.9900

AlphaMissense

2926 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:50728888:T:C	F211L	1.000
6:50728889:T:C	F211S	1.000
6:50728889:T:G	F211C	1.000
6:50728890:T:A	F211L	1.000
6:50728890:T:G	F211L	1.000
6:50728891:T:C	C212R	1.000
6:50728892:G:A	C212Y	1.000
6:50728893:C:G	C212W	1.000
6:50728898:T:A	V214D	1.000
6:50728900:C:T	P215S	1.000
6:50728901:C:A	P215H	1.000
6:50728901:C:G	P215R	1.000
6:50728901:C:T	P215L	1.000
6:50728903:G:C	G216R	1.000
6:50728903:G:T	G216C	1.000
6:50728904:G:A	G216D	1.000
6:50728904:G:T	G216V	1.000
6:50728906:C:A	R217S	1.000
6:50728906:C:G	R217G	1.000
6:50728906:C:T	R217C	1.000
6:50728910:T:C	L218S	1.000
6:50728910:T:G	L218W	1.000
6:50728913:C:T	S219F	1.000
6:50728916:T:A	L220H	1.000
6:50728916:T:C	L220P	1.000
6:50728916:T:G	L220R	1.000
6:50728918:C:T	L221F	1.000
6:50728919:T:A	L221H	1.000
6:50728919:T:C	L221P	1.000
6:50728921:A:C	S222R	1.000

dbSNP variants (sampled 300 via entrez): RS1000003457 (6:50760944 C>T), RS1000010139 (6:50742256 A>C), RS1000012023 (6:50718864 T>C), RS1000086469 (6:50751043 C>A), RS1000254873 (6:50713534 C>T), RS1000315941 (6:50714186 C>T), RS1000321804 (6:50735542 A>T), RS1000350140 (6:50714500 G>A), RS1000379617 (6:50742015 A>G), RS1000517436 (6:50746357 C>G,T), RS1000565413 (6:50766178 A>G), RS1000616710 (6:50723802 C>T), RS1000650616 (6:50712669 C>G), RS1000650913 (6:50735823 A>G), RS1000683180 (6:50712920 T>C)

Disease associations

OMIM: gene MIM:610161 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

21 associations (top):

Study	Trait	p-value
GCST001585_5	Breast size	5.000000e-06
GCST002570_3	Overweight status	9.000000e-07
GCST003802_6	Response to citalopram or escitalopram in depression	8.000000e-07
GCST004279_32	Systolic blood pressure	1.000000e-08
GCST004640_8	Western dietary pattern	3.000000e-06
GCST005091_3	Subcutaneous adipose tissue	5.000000e-07
GCST005830_113	Hand grip strength	6.000000e-11
GCST005906_3	Endometriosis or endometrial cancer (pleiotropy)	5.000000e-06
GCST006291_32	Spherical equivalent or myopia (age of diagnosis)	4.000000e-13
GCST008103_36	Bipolar disorder	8.000000e-08
GCST008115_50	Bipolar I disorder	6.000000e-07
GCST008129_48	Body mass index	1.000000e-10
GCST009192_6	Parahippocampal gyrus volume	8.000000e-06
GCST009600_126	Anorexia nervosa, attention-deficit/hyperactivity disorder, autism spectrum disorder, bipolar disorder, major depression, obsessive-compulsive disorder, schizophrenia, or Tourette syndrome (pleiotropy)	9.000000e-09
GCST010002_325	Refractive error	4.000000e-37
GCST010136_25	Fruit consumption	9.000000e-21
GCST010136_29	Fruit consumption	4.000000e-16
GCST010136_30	Fruit consumption	7.000000e-15
GCST010136_50	Fruit consumption	3.000000e-09
GCST010136_7	Fruit consumption	9.000000e-09
GCST90000047_119	Age at first sexual intercourse	1.000000e-17

EFO canonical traits (8, from GWAS)

EFO ID	Trait name
EFO:0005935	overweight body mass index status
EFO:0006335	systolic blood pressure
EFO:0008111	diet measurement
EFO:0006941	grip strength measurement
EFO:0004847	age at onset
EFO:0009963	bipolar I disorder
EFO:0004340	body mass index
EFO:0009749	age at first sexual intercourse measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

9 total (human), top 9 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects cotreatment, increases methylation	1
arsenite	increases methylation	1
Fulvestrant	increases methylation, decreases methylation, affects cotreatment	1
Air Pollutants	increases abundance, increases expression	1
Benzo(a)pyrene	increases methylation	1
Phthalic Acids	decreases methylation	1
Silicon Dioxide	decreases expression	1
Aflatoxin B1	decreases methylation	1
Particulate Matter	increases abundance, increases expression	1

Clinical trials (associated diseases)

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