ADARB2

Summary

ADARB2 (adenosine deaminase RNA specific B2 (inactive), HGNC:227) is a protein-coding gene on chromosome 10p15.3, encoding Inactive double-stranded RNA-specific editase B2 (Q9NS39). Single- and double-stranded RNA-binding protein that interferes with the RNA editing activities of ADAR/ADAR1 and ADARB1/ADAR2.

This gene encodes a member of the double-stranded RNA adenosine deaminase family of RNA-editing enzymes and may play a regulatory role in RNA editing.

Source: NCBI Gene 105 — RefSeq curated summary.

At a glance

• GWAS associations: 14
• Clinical variants (ClinVar): 196 total — 9 pathogenic, 2 likely-pathogenic
• MANE Select transcript: NM_018702

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:227
Approved symbol	ADARB2
Name	adenosine deaminase RNA specific B2 (inactive)
Location	10p15.3
Locus type	gene with protein product
Status	Approved
Aliases	RED2, hRED2, ADAR3
Ensembl gene	ENSG00000185736
Ensembl biotype	protein_coding
OMIM	602065
Entrez	105

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 4 protein_coding_CDS_not_defined, 3 protein_coding

ENST00000381305, ENST00000381310, ENST00000381312, ENST00000469464, ENST00000474762, ENST00000477140, ENST00000490172

RefSeq mRNA: 1 — MANE Select: NM_018702 NM_018702

CCDS: CCDS7058

Canonical transcript exons

ENST00000381312 — 10 exons

Exon	Start	End
ENSE00001303776	1379074	1379160
ENSE00001488147	1177313	1183369
ENSE00001488160	1737051	1737525
ENSE00001601056	1363028	1363917
ENSE00001672126	1242131	1242299
ENSE00001751553	1216951	1217119
ENSE00001780142	1270955	1271069
ENSE00003629183	1199966	1200147
ENSE00003644419	1184861	1185039
ENSE00003656306	1233694	1233845

Expression profiles

Bgee: expression breadth ubiquitous, 184 present calls, max score 92.62.

FANTOM5 (CAGE): breadth broad, TPM avg 5.1843 / max 457.5963, expressed in 447 samples.

FANTOM5 promoters (21 alternative TSS)

Promoter ID	TPM avg	Samples expressed
107899	1.0878	160
107911	0.8501	197
107897	0.5797	175
107908	0.4790	174
107882	0.4073	72
107888	0.3974	64
107886	0.2471	60
107910	0.1882	101
107900	0.1878	38
107909	0.1850	103

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
C1 segment of cervical spinal cord	UBERON:0006469	92.62	gold quality
spinal cord	UBERON:0002240	89.84	gold quality
substantia nigra	UBERON:0002038	85.41	gold quality
amygdala	UBERON:0001876	83.84	gold quality
midbrain	UBERON:0001891	83.69	gold quality
Ammon’s horn	UBERON:0001954	83.02	gold quality
corpus callosum	UBERON:0002336	82.85	gold quality
putamen	UBERON:0001874	81.82	gold quality
prefrontal cortex	UBERON:0000451	81.76	gold quality
Brodmann (1909) area 9	UBERON:0013540	81.75	gold quality
anterior cingulate cortex	UBERON:0009835	81.28	gold quality
cingulate cortex	UBERON:0003027	81.18	gold quality
pons	UBERON:0000988	81.17	gold quality
inferior olivary complex	UBERON:0002127	80.89	gold quality
right frontal lobe	UBERON:0002810	80.57	gold quality
caudate nucleus	UBERON:0001873	80.43	gold quality
nucleus accumbens	UBERON:0001882	79.79	gold quality
hypothalamus	UBERON:0001898	79.74	gold quality
temporal lobe	UBERON:0001871	79.64	gold quality
telencephalon	UBERON:0001893	78.84	gold quality
frontal cortex	UBERON:0001870	78.79	gold quality
parotid gland	UBERON:0001831	78.74	silver quality
medial globus pallidus	UBERON:0002477	78.74	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	78.68	gold quality
cranial nerve II	UBERON:0000941	78.53	gold quality
neocortex	UBERON:0001950	78.33	gold quality
cerebral cortex	UBERON:0000956	78.05	gold quality
postcentral gyrus	UBERON:0002581	77.77	gold quality
globus pallidus	UBERON:0001875	77.67	gold quality
forebrain	UBERON:0001890	76.53	gold quality

Single-cell (SCXA)

Detected in 6 experiment(s), a significant marker in 6.

Experiment	Marker?	Max mean expression
E-HCAD-35	yes	4817.63
E-GEOD-180759	yes	4766.21
E-HCAD-25	yes	4613.63
E-HCAD-30	yes	4143.73
E-GEOD-84465	yes	6.65
E-ANND-3	yes	4.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): SFPQ

miRNA regulators (miRDB)

275 targeting ADARB2, 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-4283	100.00	66.42	2097
HSA-MIR-4776-3P	100.00	68.73	1340
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-4425	100.00	67.59	1049
HSA-MIR-4673	100.00	66.64	1490
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-3689D	100.00	66.14	1181
HSA-MIR-6851-5P	100.00	65.63	1294
HSA-MIR-5193	100.00	67.26	1744
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-4645-5P	99.98	65.81	1284

Literature-anchored findings (GeneRIF, showing 8)

• The SNP in ADARB2 related to longevity is associated with metabolic disorders. This finding suggests that genetic factors modulate human longevity via the regulation of metabolic factors such as abdominal obesity and lipid profiles. (PMID:22210125)
• High ADAR3 expression is associated with Glioblastoma. (PMID:28167531)
• Results found that DNA methylation mark in ADARB2 gene is not predictive for Alzheimer’s disease and becomes differentially methylated after disease onset. (PMID:31477183)
• Novel ADAR3 binding sites discovered include the 3’-UTRs of the mRNAs encoding early growth response 1 (EGR1) and dual specificity phosphatase 1. (PMID:31552420)
• RNA binding by ADAR3 inhibits adenosine-to-inosine editing and promotes expression of immune response protein MAVS. (PMID:35850307)
• ADAR3 activates NF-kappaB signaling and promotes glioblastoma cell resistance to temozolomide. (PMID:35922651)
• The allelic regulation of tumor suppressor ADARB2 in papillary thyroid carcinoma. (PMID:36305508)
• Genome-wide association study reveals a locus in ADARB2 for complete freedom from headache in Danish Blood Donors. (PMID:38802570)

Cross-species orthologs

8 orthologs

Organism	Symbol	Gene ID
danio_rerio	adarb2	ENSDARG00000071823
mus_musculus	Adarb2	ENSMUSG00000052551
rattus_norvegicus	Adarb2	ENSRNOG00000030775
drosophila_melanogaster	loqs	FBGN0032515
drosophila_melanogaster	CG12493	FBGN0035571
drosophila_melanogaster	blanks	FBGN0035608
drosophila_melanogaster	Zn72D	FBGN0263603
caenorhabditis_elegans	zfr-1	WBGENE00022388

Paralogs (14): STAU2 (ENSG00000040341), ZFR (ENSG00000056097), ADAT1 (ENSG00000065457), ZFR2 (ENSG00000105278), STAU1 (ENSG00000124214), ILF3 (ENSG00000129351), TARBP2 (ENSG00000139546), ADAD2 (ENSG00000140955), ILF2 (ENSG00000143621), ADAR (ENSG00000160710), ADAD1 (ENSG00000164113), STRBP (ENSG00000165209), PRKRA (ENSG00000180228), ADARB1 (ENSG00000197381)

Protein

Protein identifiers

Inactive double-stranded RNA-specific editase B2 — Q9NS39 (reviewed: Q9NS39)

Alternative names: RNA-dependent adenosine deaminase 3, RNA-editing deaminase 2, RNA-editing enzyme 2, dsRNA adenosine deaminase B2

All UniProt accessions (2): Q9NS39, Q5VW43

UniProt curated annotations — full annotation on UniProt →

Function. Single- and double-stranded RNA-binding protein that interferes with the RNA editing activities of ADAR/ADAR1 and ADARB1/ADAR2. Likely competes with these proteins for target binding, repressing RNA editing across the transcriptome. Additionally, it binds and stabilizes specific mRNAs and regulates the expression of proteins such as MAVS, DUSP1, and EGR1, independently of RNA editing mechanisms.

Subunit / interactions. Probable homodimer in vivo. Interacts with KPNA2; could mediate ADARB2 localization to the nucleus.

Subcellular location. Nucleus.

Tissue specificity. Brain specific. Expressed at higher levels in astrocytomas as compared to the normal brain tissue.

Domain organisation. The R-domain could function as a nuclear localization signal, mediating interaction with the importin KPNA2. It could also mediate ssRNA-binding. The DRBM domains involved in RNA-binding are crucial for the negative regulation of RNA editing.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9NS39-1	1	yes
Q9NS39-2	2

RefSeq proteins (1): NP_061172* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002466	A_deamin	Domain
IPR014720	dsRBD_dom	Domain
IPR044460	ADAR3_DSRM_1	Domain

Pfam: PF00035, PF02137

UniProt features (23 total): mutagenesis site 6, sequence variant 4, domain 3, binding site 3, region of interest 3, splice variant 2, chain 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NS39-F1	71.69	0.36

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 (3): 555; 432; 490

Mutagenesis-validated functional residues (6):

Position	Phenotype
389	novel double-stranded rna adenosine deaminase activity; when associated with i-485, q-527, r-549 and d-733.
432–434	no effect on negative regulation of rna editing.
485	novel double-stranded rna adenosine deaminase activity; when associated with v-389, q-527, r-549 and d-733.
527	novel double-stranded rna adenosine deaminase activity; when associated with v-389, i-485, r-549 and d-733.
549	novel double-stranded rna adenosine deaminase activity; when associated with v-389, i-485, q-527 and d-733.
733	novel double-stranded rna adenosine deaminase activity; when associated with v-389, i-485, q-527 and r-549.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 158 (showing top): BENPORATH_ES_WITH_H3K27ME3, GOBP_REGULATION_OF_MRNA_CATABOLIC_PROCESS, GOBP_3_UTR_MEDIATED_MRNA_STABILIZATION, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_MRNA_MODIFICATION, GOBP_POST_TRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION, GOBP_RNA_MODIFICATION, GOBP_REGULATION_OF_CATABOLIC_PROCESS, ATF1_Q6, BLALOCK_ALZHEIMERS_DISEASE_UP, TGCTGAY_UNKNOWN, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_UP, TGACATY_UNKNOWN, ATF3_Q6, TANAKA_METHYLATED_IN_ESOPHAGEAL_CARCINOMA

GO Biological Process (5): adenosine to inosine editing (GO:0006382), RNA processing (GO:0006396), mRNA processing (GO:0006397), 3’-UTR-mediated mRNA stabilization (GO:0070935), negative regulation of mRNA modification (GO:0090367)

GO Molecular Function (11): RNA binding (GO:0003723), double-stranded RNA binding (GO:0003725), double-stranded RNA adenosine deaminase activity (GO:0003726), mRNA binding (GO:0003729), tRNA-specific adenosine deaminase activity (GO:0008251), metal ion binding (GO:0046872), RNA sequestering activity (GO:0140610), single-stranded RNA binding (GO:0003727), adenosine deaminase activity (GO:0004000), hydrolase activity (GO:0016787), deaminase activity (GO:0019239)

GO Cellular Component (3): nucleus (GO:0005634), nucleolus (GO:0005730), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
RNA binding	4
deaminase activity	2
base conversion or substitution editing	1
gene expression	1
RNA biosynthetic process	1
primary metabolic process	1
RNA processing	1
mRNA metabolic process	1
mRNA stabilization	1
mRNA modification	1
regulation of mRNA modification	1
negative regulation of mRNA metabolic process	1
nucleic acid binding	1
adenosine deaminase activity	1
catalytic activity, acting on a tRNA	1
cation binding	1
molecular sequestering activity	1
hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines	1
catalytic activity	1
hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
intracellular membraneless organelle	1
intracellular anatomical structure	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1298 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ADARB2	ADA	P00813	887
ADARB2	ALYREF	Q86V81	751
ADARB2	PURA	Q00577	746
ADARB2	GRIA2	P42262	728
ADARB2	SRSF2	Q01130	724
ADARB2	HNRNPA3	P51991	696
ADARB2	GSR	P00390	685
ADARB2	NUCLEOLIN	P19338	671
ADARB2	HNRNPH2	P55795	660
ADARB2	HNRNPH1	P31943	657
ADARB2	HNRNPA1	P09651	631
ADARB2	ADAT3	Q96EY9	604
ADARB2	ZNF106	Q9H2Y7	574
ADARB2	RANGAP1	P46060	572
ADARB2	C9orf72	Q96LT7	569

IntAct

6 interactions, top by confidence:

A	B	Type	Score
CENPE	CLASP2	psi-mi:“MI:0914”(association)	0.530
Rcc1	WDR46	psi-mi:“MI:0914”(association)	0.350
EMC2	TBL2	psi-mi:“MI:0914”(association)	0.350
KIF11	MAP4	psi-mi:“MI:0914”(association)	0.350
SUMO1	CHD2	psi-mi:“MI:0914”(association)	0.000

BioGRID (18): ADARB2 (Affinity Capture-MS), ADARB2 (Affinity Capture-MS), ADARB2 (Affinity Capture-MS), ADARB2 (Affinity Capture-MS), ADARB2 (Affinity Capture-RNA), ADARB2 (Affinity Capture-MS), ADARB2 (Affinity Capture-MS), ADARB2 (Affinity Capture-RNA), ADARB2 (Proximity Label-MS), EEF1A1P5 (Cross-Linking-MS (XL-MS)), ADARB2 (Cross-Linking-MS (XL-MS)), ADARB2 (Cross-Linking-MS (XL-MS)), ADARB2 (Affinity Capture-RNA), ANKHD1 (Affinity Capture-MS), GPATCH4 (Affinity Capture-MS)

ESM2 similar proteins: A1A4I4, A1A5B6, A4D2P6, B2DCZ9, B4F7F3, O00192, O08773, O08874, O08908, O35465, O43566, O62683, O75808, O95049, P70268, P97492, Q0QWG9, Q12851, Q14164, Q14318, Q16512, Q16513, Q3B7U9, Q3KR56, Q3MII6, Q3UFB7, Q5FVC2, Q60875, Q61161, Q63433, Q63788, Q6P5Z2, Q6PFQ7, Q6V7V2, Q6ZT62, Q7Z5H3, Q865S3, Q8BWW9, Q8IYK8, Q8K045

Diamond homologs: F4HU58, P51400, P55266, P97616, Q8NCV1, Q91ZS8, Q95JV3, Q99MU3, Q9JI20, Q9NII1, Q9NS39, O42912, P53065, Q28FE8, Q4R7N3, Q5ZI16, Q9BUB4, Q9JHI2, A2RFW8, A8AWC2, B5XKB7, B8GAM6, C0MCR4, P0DF14, P0DF15, P55265, P66670, P66672, P78563, P97473, Q08E27, Q0IIG6, Q12906, Q15633, Q1J7V3, Q1JCZ9, Q1JI19, Q1JMX4, Q22618, Q3KR54

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	9
Likely pathogenic	2
Uncertain significance	158
Likely benign	12
Benign	6

Top pathogenic / likely-pathogenic (11)

Variant ID	HGVS	Classification
146014	GRCh38/hg38 10p15.3-13(chr10:73856-12815915)x3	Pathogenic
146220	GRCh38/hg38 10p15.3-14(chr10:90421-11713049)x3	Pathogenic
154088	GRCh38/hg38 10p15.3(chr10:54086-1600803)x1	Pathogenic
154187	GRCh38/hg38 10p15.3-13(chr10:54086-13205916)x3	Pathogenic
3148908	GRCh37/hg19 10p15.3(chr10:100048-1247374)x1	Pathogenic
395536	GRCh37/hg19 10p15.3-14(chr10:136361-8850609)x1	Pathogenic
441537	GRCh37/hg19 10p15.3-15.1(chr10:100026-4761588)x1	Pathogenic
442589	GRCh37/hg19 10p15.3-13(chr10:100026-12842179)x1	Pathogenic
58711	GRCh38/hg38 10p15.3(chr10:87458-2482736)x1	Pathogenic
146280	GRCh38/hg38 10p15.3-15.2(chr10:90421-3058742)x1	Likely pathogenic
154099	GRCh38/hg38 10p15.3-14(chr10:1601172-9203729)x3	Likely pathogenic

SpliceAI

6341 predictions. Top by Δscore:

Variant	Effect	Δscore
10:1183365:CTCAG:C	acceptor_gain	1.0000
10:1184859:AC:A	donor_gain	1.0000
10:1184860:CC:C	donor_gain	1.0000
10:1185037:CGC:C	acceptor_gain	1.0000
10:1185039:CCT:C	acceptor_loss	1.0000
10:1185040:C:CC	acceptor_gain	1.0000
10:1185041:T:A	acceptor_loss	1.0000
10:1199960:TCTTA:T	donor_loss	1.0000
10:1199961:CTTAC:C	donor_loss	1.0000
10:1199962:TTAC:T	donor_loss	1.0000
10:1199963:TA:T	donor_loss	1.0000
10:1199964:A:AC	donor_gain	1.0000
10:1199964:ACC:A	donor_loss	1.0000
10:1199965:C:CA	donor_loss	1.0000
10:1199965:C:CC	donor_gain	1.0000
10:1199965:CCG:C	donor_gain	1.0000
10:1217120:C:CC	acceptor_gain	1.0000
10:1233692:A:AC	donor_gain	1.0000
10:1233693:C:CC	donor_gain	1.0000
10:1233693:CGGT:C	donor_gain	1.0000
10:1233846:C:CC	acceptor_gain	1.0000
10:1363915:TACC:T	acceptor_loss	1.0000
10:1363918:C:CC	acceptor_gain	1.0000
10:1363918:C:CG	acceptor_loss	1.0000
10:1379072:A:AC	donor_gain	1.0000
10:1379073:C:CC	donor_gain	1.0000
10:1183168:G:C	donor_gain	0.9900
10:1183366:TCAG:T	acceptor_gain	0.9900
10:1183366:TCAGC:T	acceptor_loss	0.9900
10:1183367:CAG:C	acceptor_gain	0.9900

AlphaMissense

4753 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:1363637:G:C	F156L	0.999
10:1363637:G:T	F156L	0.999
10:1363639:A:G	F156L	0.999
10:1363561:C:G	A182P	0.998
10:1363571:C:A	K178N	0.998
10:1363571:C:G	K178N	0.998
10:1363583:C:A	K174N	0.998
10:1363583:C:G	K174N	0.998
10:1363593:C:T	G171D	0.998
10:1363600:C:G	G169R	0.998
10:1363604:G:C	F167L	0.998
10:1363604:G:T	F167L	0.998
10:1363606:A:G	F167L	0.998
10:1363638:A:G	F156S	0.998
10:1363707:A:G	L133P	0.998
10:1363575:G:T	A177D	0.997
10:1363576:C:G	A177P	0.997
10:1363605:A:G	F167S	0.997
10:1363630:C:G	A159P	0.997
10:1270966:A:T	V394D	0.996
10:1363133:C:A	K324N	0.996
10:1363133:C:G	K324N	0.996
10:1363154:G:C	F317L	0.996
10:1363154:G:T	F317L	0.996
10:1363156:A:G	F317L	0.996
10:1363187:G:C	F306L	0.996
10:1363187:G:T	F306L	0.996
10:1363189:A:G	F306L	0.996
10:1363548:A:G	L186P	0.996
10:1363594:C:G	G171R	0.996

dbSNP variants (sampled 300 via entrez): RS1000004222 (10:1607528 T>A,C), RS1000005177 (10:1202652 G>A), RS1000005250 (10:1669485 C>A), RS1000016903 (10:1668803 GCTTT>G), RS1000018243 (10:1735805 G>T), RS1000020539 (10:1506203 A>G), RS1000021338 (10:1639494 C>T), RS1000028234 (10:1365162 G>A,T), RS1000030719 (10:1196134 G>A), RS1000035520 (10:1559325 C>G,T), RS1000036750 (10:1607274 G>A,C,T), RS1000043995 (10:1192785 CA>C,CAA), RS1000052610 (10:1246770 G>A), RS1000058618 (10:1349042 C>A,G), RS1000070146 (10:1650237 G>C)

Disease associations

OMIM: gene MIM:602065 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): primary amenorrhea (MONDO:1060208)

Orphanet (0):

HPO phenotypes

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

GWAS associations

14 associations (top):

Study	Trait	p-value
GCST000337_1	Quantitative traits	2.000000e-06
GCST000337_18	Quantitative traits	8.000000e-06
GCST000770_7	Emphysema-related traits	6.000000e-06
GCST000823_2	Radiation response	6.000000e-06
GCST002541_79	Menarche (age at onset)	2.000000e-12
GCST002587_16	Blood pressure (smoking interaction)	8.000000e-07
GCST004253_7	Accelerated cognitive decline after conversion of mild cognitive impairment to Alzheimer’s disease (Alzhiemer’s diagnosis trajectory interaction)	3.000000e-06
GCST006086_11	Familial lung cancer	4.000000e-06
GCST006186_3	Systolic blood pressure x smoking status (current vs non-current) interaction (1df test)	7.000000e-09
GCST006195_73	Systolic blood pressure x smoking status (current vs non-current) interaction (2df test)	2.000000e-08
GCST007013_5	Hippocampal volume in mild cognitive impairment	7.000000e-07
GCST008162_41	Hip circumference	5.000000e-06
GCST009028_44	Adverse response to drug	5.000000e-08
GCST009391_1994	Metabolite levels	3.000000e-06

EFO canonical traits (11, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index
EFO:0004341	body fat distribution
EFO:0004703	age at menarche
EFO:0006335	systolic blood pressure
EFO:0006526	pack-years measurement
EFO:0007710	cognitive decline measurement
EFO:0006953	family history of lung cancer
EFO:0006527	smoking status measurement
EFO:0005035	hippocampal volume
EFO:0009658	adverse effect
EFO:0010542	ureidopropionic acid measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

29 total (human), top 29 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases methylation, increases expression	3
Benzo(a)pyrene	increases methylation, affects methylation, decreases expression	3
Aflatoxin B1	affects methylation, decreases expression, decreases methylation	3
bisphenol F	affects cotreatment, increases methylation	1
TAK-243	increases sumoylation	1
methyleugenol	decreases expression	1
11-nor-delta(9)-tetrahydrocannabinol-9-carboxylic acid	affects methylation, increases abundance	1
sodium arsenite	decreases expression	1
benzo(e)pyrene	affects methylation	1
N-acetyl-4-benzoquinoneimine	affects response to substance	1
ferrous chloride	increases expression	1
aflatoxin B2	affects methylation	1
coumarin	decreases phosphorylation	1
hydroquinone	decreases reaction, increases expression	1
bisphenol S	affects methylation	1
Sunitinib	decreases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Acetaminophen	decreases expression	1
Cannabinoids	affects methylation, increases abundance	1
Endosulfan	increases expression	1
Estradiol	increases expression, decreases reaction	1
Methapyrilene	affects methylation	1
Oxygen	increases expression	1
Phthalic Acids	decreases methylation	1
Ribonucleotides	affects binding	1
Tobacco Smoke Pollution	decreases expression	1
Toluene	increases methylation, decreases expression	1
Valproic Acid	increases methylation	1
Asbestos, Serpentine	increases methylation	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT07164248	Not specified	COMPLETED	Evaluation of Bone Mineral Density Indications and Outcomes in Female Adolescents: Implications for Early Detection of Osteopenia/Osteoporosis and Gynecologic Practice