BTN2A2

Summary

BTN2A2 (butyrophilin subfamily 2 member A2, HGNC:1137) is a protein-coding gene on chromosome 6p22.2, encoding Butyrophilin subfamily 2 member A2 (Q8WVV5). Inhibits the proliferation of CD4 and CD8 T-cells activated by anti-CD3 antibodies, T-cell metabolism and IL2 and IFNG secretion.

Butyrophilin is the major protein associated with fat droplets in the milk. This gene is a member of the BTN2 subfamily of genes, which encode proteins belonging to the butyrophilin protein family. The gene is located in a cluster on chromosome 6, consisting of seven genes belonging to the expanding B7/butyrophilin-like group, a subset of the immunoglobulin gene superfamily. The encoded protein is a type I receptor glycoprotein involved in lipid, fatty-acid and sterol metabolism. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 10385 — RefSeq curated summary.

At a glance

• GWAS associations: 27
• Clinical variants (ClinVar): 114 total
• MANE Select transcript: NM_006995

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1137
Approved symbol	BTN2A2
Name	butyrophilin subfamily 2 member A2
Location	6p22.2
Locus type	gene with protein product
Status	Approved
Aliases	BTF2, BT2.2, BTN2.2
Ensembl gene	ENSG00000124508
Ensembl biotype	protein_coding
OMIM	613591
Entrez	10385

Gene structure

Transcript identifiers

Ensembl transcripts: 33 — 30 protein_coding, 2 retained_intron, 1 nonsense_mediated_decay

ENST00000352867, ENST00000356709, ENST00000416795, ENST00000432533, ENST00000467485, ENST00000469230, ENST00000471116, ENST00000472507, ENST00000482536, ENST00000482636, ENST00000482842, ENST00000483410, ENST00000490025, ENST00000493275, ENST00000494184, ENST00000495632, ENST00000923334, ENST00000923335, ENST00000960895, ENST00000960896, ENST00000960897, ENST00000960898, ENST00000960899, ENST00000960900, ENST00000960901, ENST00000960902, ENST00000960903, ENST00000960904, ENST00000960905, ENST00000960906, ENST00000960907, ENST00000960908, ENST00000960909

RefSeq mRNA: 6 — MANE Select: NM_006995 NM_001197237, NM_001197238, NM_001197239, NM_001197240, NM_006995, NM_181531

CCDS: CCDS4606, CCDS4607, CCDS56401, CCDS56402, CCDS56403

Canonical transcript exons

ENST00000356709 — 8 exons

Exon	Start	End
ENSE00001038731	26390687	26390707
ENSE00001038732	26390005	26390211
ENSE00001186259	26392375	26394874
ENSE00001967973	26390803	26390829
ENSE00001989573	26385015	26385362
ENSE00003541889	26383792	26383915
ENSE00003560465	26388013	26388294
ENSE00003888917	26383108	26383181

Expression profiles

Bgee: expression breadth ubiquitous, 248 present calls, max score 92.96.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.7219 / max 161.6393, expressed in 1743 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
66517	5.4951	1585
66519	2.1658	1177
66518	1.0611	495

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
epithelium of nasopharynx	UBERON:0001951	92.96	gold quality
lymph node	UBERON:0000029	90.53	gold quality
tonsil	UBERON:0002372	88.68	gold quality
granulocyte	CL:0000094	88.50	gold quality
vermiform appendix	UBERON:0001154	88.31	gold quality
monocyte	CL:0000576	87.56	gold quality
mononuclear cell	CL:0000842	87.55	gold quality
leukocyte	CL:0000738	87.44	gold quality
tendon of biceps brachii	UBERON:0008188	87.41	silver quality
caecum	UBERON:0001153	87.13	gold quality
spleen	UBERON:0002106	86.42	gold quality
pancreatic ductal cell	CL:0002079	85.70	silver quality
adrenal tissue	UBERON:0018303	85.68	gold quality
cerebellar cortex	UBERON:0002129	85.60	gold quality
cerebellar hemisphere	UBERON:0002245	85.54	gold quality
right hemisphere of cerebellum	UBERON:0014890	85.02	gold quality
cerebellum	UBERON:0002037	85.01	gold quality
thymus	UBERON:0002370	84.84	gold quality
bone marrow cell	CL:0002092	84.82	gold quality
left adrenal gland	UBERON:0001234	84.63	gold quality
left adrenal gland cortex	UBERON:0035825	84.38	gold quality
adrenal gland	UBERON:0002369	84.36	gold quality
visceral pleura	UBERON:0002401	83.97	gold quality
right adrenal gland	UBERON:0001233	83.85	gold quality
adrenal cortex	UBERON:0001235	83.74	gold quality
smooth muscle tissue	UBERON:0001135	83.59	gold quality
colonic epithelium	UBERON:0000397	83.39	gold quality
right adrenal gland cortex	UBERON:0035827	83.21	gold quality
pleura	UBERON:0000977	83.10	gold quality
cartilage tissue	UBERON:0002418	83.03	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-CURD-10	yes	53.91
E-ANND-3	yes	5.01
E-MTAB-7303	no	69.30

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

76 targeting BTN2A2, 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-4455	100.00	65.48	1587
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-8063	99.91	69.76	3146
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-765	99.84	68.24	2442
HSA-MIR-489-3P	99.80	66.46	839
HSA-MIR-1299	99.77	71.24	2389
HSA-MIR-11181-3P	99.75	66.38	2205
HSA-MIR-6745	99.74	65.33	1321
HSA-MIR-4428	99.73	66.41	1733
HSA-MIR-4306	99.72	70.50	3630
HSA-MIR-3714	99.71	70.74	2671
HSA-MIR-494-3P	99.70	71.45	2795
HSA-MIR-561-3P	99.64	70.90	3647
HSA-MIR-875-3P	99.63	69.47	2548
HSA-MIR-24-3P	99.59	69.97	1934
HSA-MIR-6758-3P	99.57	67.55	1078
HSA-MIR-363-5P	99.46	64.51	1015
HSA-MIR-5683	99.36	68.59	2083
HSA-MIR-4786-3P	99.36	68.35	1390
HSA-MIR-155-5P	99.35	70.16	1509
HSA-MIR-185-5P	99.35	68.60	2497
HSA-MIR-4644	99.35	69.12	2514
HSA-MIR-6878-3P	99.24	64.23	920
HSA-MIR-6852-5P	99.17	66.69	2073

Literature-anchored findings (GeneRIF, showing 2)

• Genes encoding butyrophilin-2A2 (BTN2A2) are regulated by the class II trans-activator and regulatory factor X, two transcription factors dedicated to major histocompatibility complex class II expression, suggesting a role in T cell immunity. (PMID:26809444)
• Frameshift mutations of immunomodulatory BTN2A1, BTN2A2, and BTNL3 genes in colon cancers. (PMID:37634314)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Btn2a2	ENSMUSG00000053216
rattus_norvegicus	Btn2a2	ENSRNOG00000038877

Paralogs (15): BTN3A1 (ENSG00000026950), CD276 (ENSG00000103855), BTN3A3 (ENSG00000111801), BTN2A1 (ENSG00000112763), BTNL8 (ENSG00000113303), HHLA2 (ENSG00000114455), BTN1A1 (ENSG00000124557), VTCN1 (ENSG00000134258), ICOSLG (ENSG00000160223), ERMAP (ENSG00000164010), BTNL9 (ENSG00000165810), BTNL3 (ENSG00000168903), BTN3A2 (ENSG00000186470), BTNL2 (ENSG00000204290), MOG (ENSG00000204655)

Protein

Protein identifiers

Butyrophilin subfamily 2 member A2 — Q8WVV5 (reviewed: Q8WVV5)

All UniProt accessions (9): C9IY66, C9IZY2, C9J8J5, C9J8R3, C9JAJ6, C9JWH2, Q8WVV5, F8WC65, H7C4E8

UniProt curated annotations — full annotation on UniProt →

Function. Inhibits the proliferation of CD4 and CD8 T-cells activated by anti-CD3 antibodies, T-cell metabolism and IL2 and IFNG secretion.

Subcellular location. Membrane.

Tissue specificity. Highly expressed in brain, bone marrow, small intestine, muscle, spleen and pancreas. Moderate expression was seen in lung, liver and kidney.

Post-translational modifications. N-glycosylated.

Similarity. Belongs to the immunoglobulin superfamily. BTN/MOG family.

Isoforms (5)

UniProt ID	Names	Canonical?
Q8WVV5-1	1	yes
Q8WVV5-2	2
Q8WVV5-3	3
Q8WVV5-4	4
Q8WVV5-5	5

RefSeq proteins (6): NP_001184166, NP_001184167, NP_001184168, NP_001184169, NP_008926, NP_853509 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001870	B30.2/SPRY	Domain
IPR003599	Ig_sub	Domain
IPR003877	SPRY_dom	Domain
IPR003879	Butyrophylin_SPRY	Domain
IPR006574	PRY	Domain
IPR007110	Ig-like_dom	Domain
IPR013106	Ig_V-set	Domain
IPR013320	ConA-like_dom_sf	Homologous_superfamily
IPR013783	Ig-like_fold	Homologous_superfamily
IPR036179	Ig-like_dom_sf	Homologous_superfamily
IPR037958	SPRY/PRY_BTN1/2	Domain
IPR043136	B30.2/SPRY_sf	Homologous_superfamily
IPR050504	IgSF_BTN/MOG-like	Family
IPR053896	BTN3A2-like_Ig-C	Domain

Pfam: PF00622, PF07686, PF13765, PF22705

UniProt features (43 total): strand 15, splice variant 7, glycosylation site 4, turn 4, domain 3, topological domain 2, signal peptide 1, chain 1, disulfide bond 1, sequence variant 1, sequence conflict 1, transmembrane region 1, helix 1, coiled-coil region 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
8IH4	X-RAY DIFFRACTION	2.12

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8WVV5-F1	86.50	0.65

Functional residue map

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

Disulfide bonds (1): 55–129

Glycosylation sites (4): 118, 220, 226, 50

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-8851680	Butyrophilin (BTN) family interactions
R-HSA-1280218	Adaptive Immune System
R-HSA-168256	Immune System

MSigDB gene sets: 202 (showing top): GOBP_REGULATION_OF_T_CELL_RECEPTOR_SIGNALING_PATHWAY, GOBP_REGULATION_OF_CELL_ACTIVATION, GOBP_REGULATION_OF_ANTIGEN_RECEPTOR_MEDIATED_SIGNALING_PATHWAY, GOBP_NEGATIVE_REGULATION_OF_ERK1_AND_ERK2_CASCADE, GOBP_REGULATION_OF_LEUKOCYTE_PROLIFERATION, GOBP_POSITIVE_REGULATION_OF_HEMOPOIESIS, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, GOBP_NEGATIVE_REGULATION_OF_LEUKOCYTE_PROLIFERATION, GOBP_CELL_CYCLE_PHASE_TRANSITION, GOBP_ANTIGEN_RECEPTOR_MEDIATED_SIGNALING_PATHWAY, GOCC_CELL_SURFACE, GOBP_NEGATIVE_REGULATION_OF_CELL_CELL_ADHESION, BEIER_GLIOMA_STEM_CELL_DN, GOBP_NEGATIVE_REGULATION_OF_MAPK_CASCADE, GOBP_POSITIVE_REGULATION_OF_CELL_ADHESION

GO Biological Process (12): G1/S transition of mitotic cell cycle (GO:0000082), regulation of cytokine production (GO:0001817), negative regulation of cytokine production (GO:0001818), phosphatidylinositol 3-kinase/protein kinase B signal transduction (GO:0043491), positive regulation of regulatory T cell differentiation (GO:0045591), negative regulation of activated T cell proliferation (GO:0046007), T cell receptor signaling pathway (GO:0050852), negative regulation of T cell receptor signaling pathway (GO:0050860), negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction (GO:0051898), ERK1 and ERK2 cascade (GO:0070371), negative regulation of ERK1 and ERK2 cascade (GO:0070373), negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)

GO Molecular Function (2): signaling receptor binding (GO:0005102), protein binding (GO:0005515)

GO Cellular Component (4): plasma membrane (GO:0005886), external side of plasma membrane (GO:0009897), cell surface (GO:0009986), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Adaptive Immune System	1
Immune System	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cytokine production	2
cellular anatomical structure	2
mitotic cell cycle	1
mitotic cell cycle phase transition	1
cell cycle G1/S phase transition	1
regulation of gene expression	1
regulation of multicellular organismal process	1
regulation of cytokine production	1
negative regulation of gene expression	1
negative regulation of multicellular organismal process	1
intracellular signaling cassette	1
regulatory T cell differentiation	1
positive regulation of T cell differentiation	1
regulation of regulatory T cell differentiation	1
negative regulation of T cell proliferation	1
regulation of activated T cell proliferation	1
activated T cell proliferation	1
antigen receptor-mediated signaling pathway	1
T cell receptor signaling pathway	1
regulation of T cell receptor signaling pathway	1
negative regulation of antigen receptor-mediated signaling pathway	1
phosphatidylinositol 3-kinase/protein kinase B signal transduction	1
regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	1
negative regulation of intracellular signal transduction	1
MAPK cascade	1
negative regulation of MAPK cascade	1
ERK1 and ERK2 cascade	1
regulation of ERK1 and ERK2 cascade	1
G1/S transition of mitotic cell cycle	1
negative regulation of mitotic cell cycle phase transition	1
negative regulation of cell cycle G1/S phase transition	1
regulation of G1/S transition of mitotic cell cycle	1
protein binding	1
binding	1
membrane	1
cell periphery	1
plasma membrane	1
cell surface	1
side of membrane	1

Protein interactions and networks

STRING

688 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
BTN2A2	XDH	P47989	988
BTN2A2	PLIN2	Q99541	959
BTN2A2	MFGE8	Q08431	782
BTN2A2	MUC1	P13931	600
BTN2A2	LTF	P02788	591
BTN2A2	CD8A	P01732	557
BTN2A2	GOT2	P00505	550
BTN2A2	MUC15	Q8N387	515
BTN2A2	CIDEA	O60543	512
BTN2A2	CD4	P01730	506
BTN2A2	AASDH	Q4L235	471
BTN2A2	LALBA	P00709	447
BTN2A2	HLA-A	P01891	446
BTN2A2	PLIN1	O60240	443
BTN2A2	OMG	P23515	436

IntAct

187 interactions, top by confidence:

A	B	Type	Score
BTN2A2	PSMA3	psi-mi:“MI:0915”(physical association)	0.560
BTN2A2	FATE1	psi-mi:“MI:0915”(physical association)	0.560
PSMA3	BTN2A2	psi-mi:“MI:0915”(physical association)	0.560
BTN2A2	GJB3	psi-mi:“MI:0915”(physical association)	0.560
BTN2A2	GPRC5D	psi-mi:“MI:0915”(physical association)	0.560
BTN2A2	FFAR2	psi-mi:“MI:0915”(physical association)	0.560
BTN2A2	SPNS3	psi-mi:“MI:0915”(physical association)	0.560
BTN2A2	SEC11C	psi-mi:“MI:0915”(physical association)	0.560
BTN2A2	TMEM179B	psi-mi:“MI:0915”(physical association)	0.560
BTN2A2	TMX2	psi-mi:“MI:0915”(physical association)	0.560
BTN2A2	HSD3B7	psi-mi:“MI:0915”(physical association)	0.560
STX1A	BTN2A2	psi-mi:“MI:0915”(physical association)	0.560
BIK	BTN2A2	psi-mi:“MI:0915”(physical association)	0.560
	BTN2A2	psi-mi:“MI:0915”(physical association)	0.560
BTN2A2	TMEM237	psi-mi:“MI:0915”(physical association)	0.560
EBP	BTN2A2	psi-mi:“MI:0915”(physical association)	0.560
TMEM179B	BTN2A2	psi-mi:“MI:0915”(physical association)	0.560
GJB3	BTN2A2	psi-mi:“MI:0915”(physical association)	0.560
CD53	BTN2A2	psi-mi:“MI:0915”(physical association)	0.560
FAM209A	BTN2A2	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (133): BTN2A2 (Two-hybrid), FATE1 (Two-hybrid), BTN2A2 (Affinity Capture-MS), BTN2A2 (Affinity Capture-MS), BTN2A2 (Affinity Capture-MS), BTN2A2 (Affinity Capture-MS), BTN2A2 (Affinity Capture-MS), BTN2A2 (Affinity Capture-MS), BTN2A2 (Affinity Capture-MS), BTN2A2 (Affinity Capture-MS), CREB3 (Two-hybrid), BTN2A2 (Affinity Capture-MS), BTN2A2 (Affinity Capture-MS), BTN2A2 (Affinity Capture-MS), BTN2A2 (Affinity Capture-MS)

ESM2 similar proteins: A0A0E4BZH1, A4QPC6, A5D7V5, A7TZE6, A7TZF0, A7TZF3, A7XUX6, A7XV04, A7XV07, A8K4G0, A8MVZ5, O70355, P08508, P18892, P24071, P31994, P55803, P78410, P79391, Q13410, Q16653, Q29ZQ1, Q3KPI0, Q58DF9, Q5R7W8, Q5R960, Q5R996, Q61885, Q62556, Q63345, Q6Q8B3, Q6UXZ3, Q6XJV4, Q6XJV6, Q7KYR7, Q7TST0, Q7YR73, Q8BTP3, Q8K249, Q8TD46

Diamond homologs: A0A0E4BZH1, A4QPC6, A7TZE6, A7TZF0, A7TZF3, A7TZG1, A7TZG3, A7XUX6, A7XUY5, A7XUZ6, A7XV04, A7XV07, A7XV14, A8MVZ5, O00478, O00481, O70355, P18892, P55803, P78410, Q13410, Q16653, Q29ZQ1, Q5R7W8, Q5R960, Q5R996, Q61885, Q62556, Q63345, Q6MG97, Q6UX41, Q6UXE8, Q6UXG8, Q7KYR7, Q7TST0, Q8BJE2, Q8WVV5, Q96KV6, Q96PL5, Q9BGS7

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	79
Likely benign	15
Benign	12

Top pathogenic / likely-pathogenic (0)

SpliceAI

1334 predictions. Top by Δscore:

Variant	Effect	Δscore
6:26390154:G:T	donor_gain	1.0000
6:26390208:GCAC:G	donor_gain	1.0000
6:26390212:G:GG	donor_gain	1.0000
6:26383179:G:GT	donor_gain	0.9900
6:26385014:GCCCA:G	acceptor_gain	0.9900
6:26385357:TGGC:T	donor_gain	0.9900
6:26385360:C:T	donor_gain	0.9900
6:26386936:GCT:G	donor_gain	0.9900
6:26388274:A:T	donor_gain	0.9900
6:26388290:TCCAG:T	donor_loss	0.9900
6:26388291:CCAG:C	donor_loss	0.9900
6:26388292:CAG:C	donor_loss	0.9900
6:26388293:AGG:A	donor_loss	0.9900
6:26388294:GGTT:G	donor_loss	0.9900
6:26388295:G:T	donor_loss	0.9900
6:26388296:T:A	donor_loss	0.9900
6:26390003:A:AG	acceptor_gain	0.9900
6:26390004:G:GG	acceptor_gain	0.9900
6:26390004:GA:G	acceptor_gain	0.9900
6:26390181:A:T	donor_gain	0.9900
6:26390196:G:GT	donor_gain	0.9900
6:26390210:ACG:A	donor_loss	0.9900
6:26390211:CGT:C	donor_loss	0.9900
6:26390213:T:A	donor_loss	0.9900
6:26390217:GAA:G	donor_gain	0.9900
6:26390826:GCTG:G	donor_gain	0.9900
6:26390827:CTGGT:C	donor_loss	0.9900
6:26390830:G:GA	donor_loss	0.9900
6:26390831:TGAGT:T	donor_loss	0.9900
6:26390832:GAGTG:G	donor_loss	0.9900

AlphaMissense

3417 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:26392488:T:C	F365L	0.988
6:26392490:C:A	F365L	0.988
6:26392490:C:G	F365L	0.988
6:26385128:T:A	W70R	0.986
6:26385128:T:C	W70R	0.986
6:26392770:T:C	F459L	0.985
6:26392772:C:A	F459L	0.985
6:26392772:C:G	F459L	0.985
6:26392575:T:A	W394R	0.984
6:26392575:T:C	W394R	0.984
6:26392545:T:A	W384R	0.980
6:26392545:T:C	W384R	0.980
6:26392507:T:A	V371D	0.975
6:26392644:T:C	F417L	0.975
6:26392646:C:A	F417L	0.975
6:26392646:C:G	F417L	0.975
6:26392771:T:C	F459S	0.972
6:26392414:T:C	L340P	0.969
6:26392547:G:C	W384C	0.969
6:26392547:G:T	W384C	0.969
6:26392584:G:T	G397W	0.969
6:26385126:G:C	R69P	0.968
6:26392585:G:A	G397E	0.967
6:26385305:T:A	C129S	0.961
6:26385306:G:C	C129S	0.961
6:26392414:T:A	L340H	0.961
6:26392584:G:A	G397R	0.956
6:26392584:G:C	G397R	0.956
6:26385305:T:C	C129R	0.954
6:26392765:T:A	V457D	0.954

dbSNP variants (sampled 300 via entrez): RS1000200032 (6:26390572 G>A,C), RS1001116931 (6:26387030 G>A), RS1001396093 (6:26393260 G>A), RS1001826514 (6:26386842 A>C), RS1002072402 (6:26382054 A>C,G,T), RS1002113053 (6:26388666 C>A), RS1002437233 (6:26385382 T>C), RS1002561812 (6:26394987 T>C,G), RS1002641875 (6:26383518 G>A), RS1003021632 (6:26383156 A>G), RS1003031082 (6:26388319 T>C), RS1003117831 (6:26390503 T>C), RS1003127645 (6:26389904 C>G), RS1003544366 (6:26393547 C>T), RS1003947647 (6:26395043 G>A)

Disease associations

OMIM: gene MIM:613591 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

27 associations (top):

Study	Trait	p-value
GCST000433_1	Schizophrenia	1.000000e-08
GCST004521_113	Autism spectrum disorder or schizophrenia	3.000000e-19
GCST004521_208	Autism spectrum disorder or schizophrenia	5.000000e-17
GCST004521_234	Autism spectrum disorder or schizophrenia	4.000000e-10
GCST004521_299	Autism spectrum disorder or schizophrenia	6.000000e-13
GCST004521_301	Autism spectrum disorder or schizophrenia	1.000000e-08
GCST004521_69	Autism spectrum disorder or schizophrenia	8.000000e-24
GCST005316_629	Intelligence (MTAG)	3.000000e-12
GCST005316_631	Intelligence (MTAG)	2.000000e-08
GCST005337_19	Headache	5.000000e-09
GCST006269_770	General cognitive ability	6.000000e-09
GCST006940_150	Neurociticism	4.000000e-09
GCST010002_50	Refractive error	4.000000e-34
GCST010142_16	Fish- and plant-related diet	2.000000e-10
GCST010142_19	Fish- and plant-related diet	4.000000e-10
GCST010142_34	Fish- and plant-related diet	7.000000e-09
GCST010142_35	Fish- and plant-related diet	8.000000e-09
GCST010142_42	Fish- and plant-related diet	1.000000e-08
GCST010142_7	Fish- and plant-related diet	3.000000e-12
GCST010142_74	Fish- and plant-related diet	9.000000e-09
GCST010142_82	Fish- and plant-related diet	3.000000e-08
GCST010702_75	Subcortical volume (MOSTest)	3.000000e-11
GCST010703_272	Brain morphology (MOSTest)	7.000000e-16
GCST011703_74	Smoking initiation	5.000000e-08
GCST012227_899	Hip circumference adjusted for BMI	1.000000e-12
GCST90016674_12	Liver iron content	2.000000e-66
GCST90020028_817	Hip circumference adjusted for BMI	1.000000e-15

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0004337	intelligence
EFO:0007660	neuroticism measurement
EFO:0008111	diet measurement
EFO:0004346	neuroimaging measurement
EFO:0005670	smoking initiation
EFO:0008039	BMI-adjusted hip circumference

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

24 total (human), top 24 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases abundance, increases expression	3
Valproic Acid	affects expression, increases expression	3
Arsenic	decreases expression, increases abundance, increases expression	2
trichostatin A	affects expression	1
beta-lapachone	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
abrine	increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Vorinostat	increases expression	1
Carbamazepine	affects expression	1
Diethylhexyl Phthalate	decreases expression	1
Doxorubicin	decreases expression	1
Formaldehyde	increases expression	1
Hydrogen Peroxide	affects expression	1
Perfume	increases expression	1
Plant Extracts	affects cotreatment, increases expression	1
Silicon Dioxide	increases expression	1
Tetrachlorodibenzodioxin	affects expression	1
Tretinoin	increases expression	1
Aflatoxin B1	increases methylation	1
Asbestos, Crocidolite	increases expression	1
Antirheumatic Agents	decreases expression	1
Copper Sulfate	increases expression	1

Clinical trials (associated diseases)

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