TADA2A

Summary

TADA2A (transcriptional adaptor 2A, HGNC:11531) is a protein-coding gene on chromosome 17q12, encoding Transcriptional adapter 2-alpha (O75478). Component of the ATAC complex, a complex with histone acetyltransferase activity on histones H3 and H4. It is a selective cancer dependency (DepMap: 56.9% of cell lines).

Many DNA-binding transcriptional activator proteins enhance the initiation rate of RNA polymerase II-mediated gene transcription by interacting functionally with the general transcription machinery bound at the basal promoter. Adaptor proteins are usually required for this activation, possibly to acetylate and destabilize nucleosomes, thereby relieving chromatin constraints at the promoter. The protein encoded by this gene is a transcriptional activator adaptor and has been found to be part of the PCAF histone acetylase complex. Several alternatively spliced transcript variants encoding different isoforms of this gene have been described, but the full-length nature of some of these variants has not been determined.

Source: NCBI Gene 6871 — RefSeq curated summary.

At a glance

• GWAS associations: 5
• Clinical variants (ClinVar): 74 total — 1 pathogenic
• Phenotypes (HPO): 179
• Cancer dependency (DepMap): dependent in 56.9% of screened cell lines
• MANE Select transcript: NM_001166105

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:11531
Approved symbol	TADA2A
Name	transcriptional adaptor 2A
Location	17q12
Locus type	gene with protein product
Status	Approved
Aliases	ADA2, hADA2, ADA2A
Ensembl gene	ENSG00000276234
Ensembl biotype	protein_coding
OMIM	602276
Entrez	6871

Gene structure

Transcript identifiers

Ensembl transcripts: 21 — 11 protein_coding, 4 protein_coding_CDS_not_defined, 3 retained_intron, 3 nonsense_mediated_decay

ENST00000610834, ENST00000612272, ENST00000614112, ENST00000614122, ENST00000615182, ENST00000615328, ENST00000616284, ENST00000618662, ENST00000619335, ENST00000619777, ENST00000620086, ENST00000620367, ENST00000620628, ENST00000620838, ENST00000621780, ENST00000622085, ENST00000853616, ENST00000853617, ENST00000853618, ENST00000936106, ENST00000963847

RefSeq mRNA: 4 — MANE Select: NM_001166105 NM_001166105, NM_001291918, NM_001488, NM_133439

CCDS: CCDS11319, CCDS45656

Canonical transcript exons

ENST00000615182 — 16 exons

Exon	Start	End
ENSE00003713516	37423509	37423615
ENSE00003716283	37474556	37474629
ENSE00003717050	37411269	37411390
ENSE00003717784	37467454	37467525
ENSE00003719235	37442564	37442652
ENSE00003725293	37444696	37444768
ENSE00003737738	37462078	37462121
ENSE00003739880	37440505	37440662
ENSE00003739882	37471094	37471137
ENSE00003741740	37476797	37479725
ENSE00003743489	37406886	37406949
ENSE00003745057	37426950	37427009
ENSE00003748840	37458524	37458587
ENSE00003750093	37437738	37437829
ENSE00003751830	37470400	37470532
ENSE00003789233	37465431	37465541

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 91.85.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.8785 / max 89.7237, expressed in 1793 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
160457	10.7813	1785
160458	2.0972	1111

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	91.85	gold quality
calcaneal tendon	UBERON:0003701	89.99	gold quality
corpus callosum	UBERON:0002336	89.74	gold quality
ventricular zone	UBERON:0003053	88.36	gold quality
ganglionic eminence	UBERON:0004023	88.24	gold quality
testis	UBERON:0000473	87.86	gold quality
right testis	UBERON:0004534	87.30	gold quality
left testis	UBERON:0004533	87.23	gold quality
bone marrow cell	CL:0002092	86.17	gold quality
cortical plate	UBERON:0005343	86.04	gold quality
skeletal muscle tissue	UBERON:0001134	85.85	gold quality
muscle tissue	UBERON:0002385	85.58	gold quality
endometrium	UBERON:0001295	85.56	gold quality
islet of Langerhans	UBERON:0000006	85.51	gold quality
gastrocnemius	UBERON:0001388	85.25	gold quality
muscle of leg	UBERON:0001383	85.08	gold quality
mucosa of stomach	UBERON:0001199	84.90	gold quality
sural nerve	UBERON:0015488	84.84	gold quality
superior frontal gyrus	UBERON:0002661	84.76	gold quality
uterine cervix	UBERON:0000002	84.69	gold quality
urinary bladder	UBERON:0001255	84.69	gold quality
tibial nerve	UBERON:0001323	84.67	gold quality
thyroid gland	UBERON:0002046	84.61	gold quality
left lobe of thyroid gland	UBERON:0001120	84.50	gold quality
tonsil	UBERON:0002372	84.49	gold quality
bone marrow	UBERON:0002371	84.14	gold quality
skin of leg	UBERON:0001511	84.10	gold quality
prefrontal cortex	UBERON:0000451	84.09	gold quality
hindlimb stylopod muscle	UBERON:0004252	84.07	gold quality
right lobe of thyroid gland	UBERON:0001119	84.03	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.81

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

8 targets.

Target	Regulation
CFAP20
FGFR1
KAT2B
KRT9
PSMD4
TADA3
TAF6
TAF9

miRNA regulators (miRDB)

2 targeting TADA2A, 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-3151-3P	97.80	66.16	479
HSA-MIR-2355-3P	96.84	68.54	909

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 56.9% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 9)

• The three-dimensional solution structure of the SWIRM domain from the human transcriptional adaptor ADA2alpha was reported. (PMID:16299514)
• hADA2a and hADA3 as crucial cofactors of beta-catenin that are likely involved in the assembly of transactivation-competent beta-catenin complexes at Wnt target genes. (PMID:18059173)
• CCDC134 increased the PCAF-dependent K320 acetylation of p53 and p53 protein stability in the presence of hADA2a overexpression. (PMID:22644376)
• Single nucleotide polymorphism in ADA2 gene is associated with type 1 diabetes. (PMID:25492086)
• results thus demonstrate that the catalytic activity of GCN5 is stimulated by subunits of the ADA2a- or ADA2b-containing HAT modules and is further increased by incorporation of the distinct HAT modules in the ATAC or SAGA holo-complexes (PMID:26468280)
• Circular RNA TADA2A promotes proliferation and migration via modulating of miR638/KIAA0101 signal in nonsmall cell lung cancer. (PMID:34296306)
• CircTADA2A up-regulates MAPK8 by targeting MiR-214-3p and recruiting EIF4A3 to promote the invasion and migration of non-small cell lung cancer cells. (PMID:36193940)
• ADA2 Deficiency Mimicking Acute Disseminated Encephalomyelitis. (PMID:36472692)
• Novel ADA2 Variants in a Romanian Case Series of DADA2. (PMID:37783985)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	tada2a	ENSDARG00000031562
mus_musculus	Tada2a	ENSMUSG00000018651
rattus_norvegicus	Tada2a	ENSRNOG00000002757
drosophila_melanogaster	Ada2a	FBGN0263738

Paralogs (1): TADA2B (ENSG00000173011)

Protein

Protein identifiers

Transcriptional adapter 2-alpha — O75478 (reviewed: O75478)

Alternative names: Transcriptional adapter 2-like

All UniProt accessions (7): A0A024R0Y4, A0A087WTV5, A0A087WU71, A0A087WWR4, A0A087WYK3, A0A087WZS1, A0A087X2C8

UniProt curated annotations — full annotation on UniProt →

Function. Component of the ATAC complex, a complex with histone acetyltransferase activity on histones H3 and H4. Required for the function of some acidic activation domains, which activate transcription from a distant site. Binds double-stranded DNA. Binds dinucleosomes, probably at the linker region between neighboring nucleosomes. Plays a role in chromatin remodeling. May promote TP53/p53 ‘Lys-321’ acetylation, leading to reduced TP53 stability and transcriptional activity. May also promote XRCC6 acetylation thus facilitating cell apoptosis in response to DNA damage.

Subunit / interactions. Interacts with GCN5 and NR3C1. Associated with the P/CAF protein in the PCAF complex. Component of the PCAF complex, at least composed of TADA2L/ADA2, TADA3L/ADA3, TAF5L/PAF65-beta, TAF6L/PAF65-alpha, TAF10/TAFII30, TAF12/TAFII20, TAF9/TAFII31 and TRRAP. Component of the ADA2A-containing complex (ATAC), composed of KAT14, KAT2A, TADA2L, TADA3L, ZZ3, MBIP, WDR5, YEATS2, CCDC101 and DR1. Interacts with CCDC134.

Subcellular location. Nucleus. Chromosome.

Tissue specificity. Expressed in all tissues, but most abundantly in testis.

Isoforms (2)

UniProt ID	Names	Canonical?
O75478-1	1	yes
O75478-2	2

RefSeq proteins (4): NP_001159577, NP_001278847, NP_001479, NP_597683 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000433	Znf_ZZ	Domain
IPR001005	SANT/Myb	Domain
IPR007526	SWIRM	Domain
IPR009057	Homeodomain-like_sf	Homologous_superfamily
IPR016827	Ada2/TADA2	Family
IPR017884	SANT_dom	Domain
IPR017930	Myb_dom	Domain
IPR036388	WH-like_DNA-bd_sf	Homologous_superfamily
IPR041983	ADA2-like_ZZ	Domain
IPR043145	Znf_ZZ_sf	Homologous_superfamily
IPR055141	TADA2A_B-like_dom	Domain

Pfam: PF00249, PF04433, PF22941, PF25299

UniProt features (31 total): binding site 8, sequence conflict 5, sequence variant 3, helix 3, domain 2, cross-link 2, splice variant 2, chain 1, modified residue 1, strand 1, zinc finger region 1, DNA-binding region 1, region of interest 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
1X41	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O75478-F1	85.04	0.47

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (8): 42; 45; 55; 59; 17; 20; 31; 34

Post-translational modifications (3): 6, 132, 138

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-3214847	HATs acetylate histones
R-HSA-9772755	Formation of WDR5-containing histone-modifying complexes

MSigDB gene sets: 695 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_DN, WALLACE_PROSTATE_CANCER_RACE_UP, REACTOME_INNATE_IMMUNE_SYSTEM, MCLACHLAN_DENTAL_CARIES_UP, MIDORIKAWA_AMPLIFIED_IN_LIVER_CANCER, GOCC_SECRETORY_GRANULE, GOBP_REGULATION_OF_PROTEIN_DEACETYLATION, GOBP_MACROMOLECULE_DEACYLATION, GOBP_CARBOHYDRATE_DERIVATIVE_CATABOLIC_PROCESS, GOMF_GROWTH_FACTOR_ACTIVITY, WIELAND_UP_BY_HBV_INFECTION, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, GOBP_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS, GNF2_MCL1

GO Biological Process (10): chromatin remodeling (GO:0006338), regulation of DNA-templated transcription (GO:0006355), regulation of transcription by RNA polymerase II (GO:0006357), regulation of embryonic development (GO:0045995), regulation of cell division (GO:0051302), regulation of cell cycle (GO:0051726), mitotic cell cycle (GO:0000278), chromatin organization (GO:0006325), regulation of protein stability (GO:0031647), positive regulation of DNA-templated transcription (GO:0045893)

GO Molecular Function (6): DNA binding (GO:0003677), chromatin binding (GO:0003682), transcription coactivator activity (GO:0003713), zinc ion binding (GO:0008270), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (7): SAGA complex (GO:0000124), nucleus (GO:0005634), nucleoplasm (GO:0005654), SAGA-type complex (GO:0070461), mitotic spindle (GO:0072686), ATAC complex (GO:0140672), chromosome (GO:0005694)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Chromatin modifying enzymes	1
Epigenetic regulation by WDR5-containing histone modifying complexes	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
DNA-templated transcription	2
regulation of DNA-templated transcription	2
regulation of cellular process	2
cell cycle	2
binding	2
SAGA-type complex	2
chromatin organization	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
transcription by RNA polymerase II	1
embryo development	1
regulation of multicellular organismal development	1
cell division	1
mitotic nuclear division	1
cellular component organization	1
regulation of biological quality	1
positive regulation of RNA biosynthetic process	1
nucleic acid binding	1
transcription coregulator activity	1
positive regulation of DNA-templated transcription	1
transition metal ion binding	1
cation binding	1
DUBm complex	1
peptidase complex	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cellular anatomical structure	1
histone acetyltransferase complex	1
spindle	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

1130 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TADA2A	TADA3	O75528	997
TADA2A	SGF29	Q96ES7	982
TADA2A	KAT2A	Q92830	975
TADA2A	KAT2B	Q92831	970
TADA2A	SUPT3H	O75486	829
TADA2A	TAF9	Q16594	810
TADA2A	YEATS2	Q9ULM3	773
TADA2A	ZZZ3	Q8IYH5	743
TADA2A	POLE4	Q9NR33	683
TADA2A	KAT14	Q9H8E8	668
TADA2A	MBIP	Q9NS73	661
TADA2A	SYNRG	Q9UMZ2	659
TADA2A	PIGW	Q7Z7B1	658
TADA2A	TAF10	Q12962	656
TADA2A	C17orf78	Q8N4C9	652

IntAct

187 interactions, top by confidence:

A	B	Type	Score
CDK8	MED19	psi-mi:“MI:2364”(proximity)	0.850
SGF29	NDC80	psi-mi:“MI:0914”(association)	0.840
TADA3	TADA2A	psi-mi:“MI:0914”(association)	0.740
TADA2A	TADA3	psi-mi:“MI:0915”(physical association)	0.740
AIRIM	TADA2A	psi-mi:“MI:0915”(physical association)	0.720
TADA2A	AIRIM	psi-mi:“MI:0915”(physical association)	0.720
TADA2A	KAT2A	psi-mi:“MI:0915”(physical association)	0.710
WDR5	MEN1	psi-mi:“MI:0914”(association)	0.710
HGS	TADA2A	psi-mi:“MI:0915”(physical association)	0.670
TADA2A	HGS	psi-mi:“MI:0915”(physical association)	0.670
KAT2B	TADA2A	psi-mi:“MI:0914”(association)	0.640
CCDC134	TADA2A	psi-mi:“MI:0915”(physical association)	0.600
CCDC134	TADA2A	psi-mi:“MI:0403”(colocalization)	0.600
PRPF31	TADA2A	psi-mi:“MI:0915”(physical association)	0.560
EIF4E2	TADA2A	psi-mi:“MI:0915”(physical association)	0.560
MTX2	TADA2A	psi-mi:“MI:0915”(physical association)	0.560
FARS2	TADA2A	psi-mi:“MI:0915”(physical association)	0.560
TADA2A	MFAP1	psi-mi:“MI:0915”(physical association)	0.560
TADA2A	MAGOH	psi-mi:“MI:0915”(physical association)	0.560
SF3A3	TADA2A	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (290): TADA2A (Two-hybrid), TADA2A (Two-hybrid), TADA2A (Two-hybrid), EIF4E2 (Two-hybrid), MTX2 (Two-hybrid), FARS2 (Two-hybrid), SF3A3 (Two-hybrid), ZFYVE26 (Two-hybrid), PPP1R16B (Two-hybrid), PRPF31 (Two-hybrid), CCHCR1 (Two-hybrid), C1orf109 (Two-hybrid), CDCA7L (Two-hybrid), GPSM3 (Two-hybrid), TTC23 (Two-hybrid)

ESM2 similar proteins: A2AT37, A2VD00, A4II09, B0LPN4, E9Q401, F1LNJ2, O75478, O75643, P11881, P19447, P23116, P29994, P30957, P46940, P49135, Q0E908, Q0VEJ0, Q14152, Q14643, Q1JU68, Q1RMT1, Q2HJ41, Q3SZP8, Q4G005, Q5EAV6, Q5RA62, Q5RCP7, Q5ZJT0, Q5ZKK7, Q60HG1, Q62383, Q65X70, Q6AYE3, Q6GMH0, Q6P4T2, Q7KZ85, Q7ZVV1, Q8BM39, Q8CHV6, Q8TAP6

Diamond homologs: O75478, Q3SZP8, Q59WH0, Q5ZJF3, Q6AYE3, Q7KSD8, Q8CHV6, Q8I8V0, Q8VY05, Q9ATB4, Q02336, Q75LL6, Q9P7J7, Q9XI07, Q9VEA5, Q503N9, Q54NA6, Q5RBN9, Q6NRB5, Q86TJ2, O14470, P97496, Q53KK6, Q54J55, Q6PDG5, Q8TAQ2, Q92922, Q9SFD5

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 95 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
Formation of WDR5-containing histone-modifying complexes	12	48.3×	2e-15
Epigenetic regulation by WDR5-containing histone modifying complexes	11	25.7×	6e-11
NOTCH1 Intracellular Domain Regulates Transcription	5	18.0×	3e-04
Constitutive Signaling by NOTCH1 PEST Domain Mutants	5	14.9×	5e-04
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants	5	14.9×	5e-04
Differentiation of naive CD4+ T cells to T helper 2 cells (Th2 cells)	6	13.3×	2e-04
HATs acetylate histones	10	12.0×	8e-07
Epigenetic regulation of gene expression	11	11.9×	2e-07

GO biological processes:

GO term	Partners	Fold	FDR
regulation of cell division	9	77.5×	6e-13
regulation of embryonic development	11	40.8×	6e-13
regulation of DNA repair	7	21.7×	3e-06
regulation of RNA splicing	5	12.3×	3e-03
regulation of cell cycle	12	10.1×	2e-07

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	54
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
625732	GRCh37/hg19 17q12(chr17:34437475-36214026)	Pathogenic

SpliceAI

5063 predictions. Top by Δscore:

Variant	Effect	Δscore
17:37411388:GCA:G	donor_gain	1.0000
17:37411391:G:GG	donor_gain	1.0000
17:37414479:G:GT	donor_gain	1.0000
17:37423344:GATCA:G	donor_gain	1.0000
17:37423611:TGCAG:T	donor_loss	1.0000
17:37423612:GCAGG:G	donor_loss	1.0000
17:37423613:CAGGT:C	donor_loss	1.0000
17:37423614:AG:A	donor_loss	1.0000
17:37423615:GGT:G	donor_loss	1.0000
17:37423616:GT:G	donor_loss	1.0000
17:37423617:T:C	donor_loss	1.0000
17:37426948:A:AG	acceptor_gain	1.0000
17:37426949:G:GA	acceptor_gain	1.0000
17:37426949:GT:G	acceptor_gain	1.0000
17:37426949:GTGT:G	acceptor_gain	1.0000
17:37427064:G:T	donor_gain	1.0000
17:37437733:CTTA:C	acceptor_loss	1.0000
17:37437734:TTA:T	acceptor_loss	1.0000
17:37437736:A:AG	acceptor_gain	1.0000
17:37437736:A:C	acceptor_loss	1.0000
17:37437737:G:GG	acceptor_gain	1.0000
17:37440493:A:AG	acceptor_gain	1.0000
17:37440494:C:G	acceptor_gain	1.0000
17:37440495:A:AG	acceptor_gain	1.0000
17:37440496:A:G	acceptor_gain	1.0000
17:37440497:T:G	acceptor_gain	1.0000
17:37440502:TAGGC:T	acceptor_loss	1.0000
17:37440503:A:AG	acceptor_gain	1.0000
17:37440503:AG:A	acceptor_gain	1.0000
17:37440504:G:A	acceptor_loss	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000020853 (17:37450160 A>G), RS1000068877 (17:37472627 C>A,G,T), RS1000084007 (17:37473112 A>C), RS1000085442 (17:37466549 A>G), RS1000134995 (17:37425493 A>G), RS1000163324 (17:37405028 A>C), RS1000198142 (17:37467002 C>A), RS1000201279 (17:37466883 C>T), RS1000275790 (17:37461191 C>T), RS1000279904 (17:37419603 AC>A,ACC), RS1000291215 (17:37419086 T>G), RS1000338223 (17:37431416 A>C,G), RS1000357433 (17:37413203 A>C,G), RS1000384335 (17:37438157 A>G), RS1000392897 (17:37455359 TG>T)

Disease associations

OMIM: gene MIM:602276 | disease phenotypes: MIM:614526

GenCC curated gene-disease

Mondo (1): chromosome 17q12 duplication syndrome (MONDO:0013796)

Orphanet (1): 17q12 microduplication syndrome (Orphanet:261272)

HPO phenotypes

179 total (30 of 179 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000047	Hypospadias
HP:0000085	Horseshoe kidney
HP:0000093	Proteinuria
HP:0000104	Renal agenesis
HP:0000112	Nephropathy
HP:0000119	Abnormality of the genitourinary system
HP:0000155	Oral ulcer
HP:0000185	Cleft soft palate
HP:0000218	High palate
HP:0000234	Abnormality of the head
HP:0000252	Microcephaly
HP:0000286	Epicanthus
HP:0000294	Low anterior hairline
HP:0000316	Hypertelorism
HP:0000347	Micrognathia
HP:0000369	Low-set ears
HP:0000403	Recurrent otitis media
HP:0000431	Wide nasal bridge
HP:0000465	Webbed neck
HP:0000470	Short neck
HP:0000486	Strabismus
HP:0000508	Ptosis
HP:0000519	Developmental cataract
HP:0000602	Ophthalmoplegia
HP:0000648	Optic atrophy
HP:0000708	Atypical behavior
HP:0000713	Agitation
HP:0000716	Depression
HP:0000726	Dementia

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST001941_16	Ovarian cancer	8.000000e-10
GCST010922_11	Hip bone mineral density and total body fat mass (bivariate analysis)	2.000000e-10
GCST90002394_522	Monocyte percentage of white cells	1.000000e-09
GCST90002400_211	Plateletcrit	1.000000e-20
GCST90002407_129	White blood cell count	3.000000e-15

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0007702	hip bone mineral density
EFO:0007989	monocyte percentage of leukocytes
EFO:0007985	platelet crit

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

26 total (human), top 26 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects cotreatment, increases abundance, increases expression	2
Valproic Acid	decreases expression	2
Cadmium Chloride	decreases expression	2
FR900359	increases phosphorylation	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
ferrous chloride	decreases expression	1
methacrylaldehyde	affects cotreatment, increases oxidation, increases abundance	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
Vorinostat	decreases expression	1
Acrolein	affects cotreatment, increases oxidation, increases abundance	1
Air Pollutants	affects cotreatment, increases abundance, increases oxidation	1
Arsenic	affects cotreatment, increases abundance, increases expression	1
Dichlorodiphenyl Dichloroethylene	increases expression	1
Doxorubicin	decreases expression	1
Ozone	affects cotreatment, increases oxidation, increases abundance	1
Silicon Dioxide	decreases expression	1
Tretinoin	decreases expression	1
Urethane	decreases expression	1
Copper Sulfate	increases expression	1
Lactic Acid	decreases expression	1
Volatile Organic Compounds	affects cotreatment, increases oxidation	1

Clinical trials (associated diseases)

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