BTN3A2

Summary

BTN3A2 (butyrophilin subfamily 3 member A2, HGNC:1139) is a protein-coding gene on chromosome 6p22.2, encoding Butyrophilin subfamily 3 member A2 (P78410). Plays a role in T-cell responses in the adaptive immune response.

This gene encodes a member of the immunoglobulin superfamily, which resides in the juxta-telomeric region of the major histocompatability class 1 locus and is clustered with the other family members on chromosome 6. The encoded protein may be involved in the adaptive immune response. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 11118 — RefSeq curated summary.

At a glance

• GWAS associations: 32
• Clinical variants (ClinVar): 71 total
• MANE Select transcript: NM_007047

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1139
Approved symbol	BTN3A2
Name	butyrophilin subfamily 3 member A2
Location	6p22.2
Locus type	gene with protein product
Status	Approved
Aliases	BTN3.2
Ensembl gene	ENSG00000186470
Ensembl biotype	protein_coding
OMIM	613594
Entrez	11118

Gene structure

Transcript identifiers

Ensembl transcripts: 84 — 75 protein_coding, 5 retained_intron, 3 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000356386, ENST00000377708, ENST00000396934, ENST00000396948, ENST00000508906, ENST00000524459, ENST00000524682, ENST00000527417, ENST00000527422, ENST00000527639, ENST00000528222, ENST00000528541, ENST00000530653, ENST00000531055, ENST00000532294, ENST00000532627, ENST00000532865, ENST00000532994, ENST00000604202, ENST00000872161, ENST00000872162, ENST00000872163, ENST00000872164, ENST00000872165, ENST00000872166, ENST00000872167, ENST00000872168, ENST00000872169, ENST00000872170, ENST00000872171, ENST00000872172, ENST00000872173, ENST00000872174, ENST00000872175, ENST00000872176, ENST00000872177, ENST00000872178, ENST00000872179, ENST00000872180, ENST00000872181, ENST00000872182, ENST00000872183, ENST00000872184, ENST00000872185, ENST00000872186, ENST00000872187, ENST00000872188, ENST00000872189, ENST00000872190, ENST00000872191, ENST00000872192, ENST00000872193, ENST00000872194, ENST00000872195, ENST00000872196, ENST00000872197, ENST00000872198, ENST00000872199, ENST00000872200, ENST00000872201, ENST00000872202, ENST00000957866, ENST00000957867, ENST00000957868, ENST00000957869, ENST00000957870, ENST00000957871, ENST00000957872, ENST00000957873, ENST00000957874, ENST00000957875, ENST00000957876, ENST00000957877, ENST00000957878, ENST00000957879, ENST00000957880, ENST00000957881, ENST00000957882, ENST00000957883, ENST00000957884, ENST00000957885, ENST00000957886, ENST00000957887, ENST00000957888

RefSeq mRNA: 5 — MANE Select: NM_007047 NM_001197246, NM_001197247, NM_001197248, NM_001197249, NM_007047

CCDS: CCDS4605, CCDS56399, CCDS56400

Canonical transcript exons

ENST00000377708 — 11 exons

Exon	Start	End
ENSE00001038707	26365198	26365352
ENSE00001038716	26374771	26374798
ENSE00001942513	26375797	26378312
ENSE00001959803	26368178	26368267
ENSE00001972051	26367990	26368050
ENSE00003541142	26368565	26368912
ENSE00003602306	26372897	26373097
ENSE00003612076	26374327	26374373
ENSE00003634987	26373387	26373413
ENSE00003677875	26373276	26373296
ENSE00003788114	26370322	26370603

Expression profiles

Bgee: expression breadth ubiquitous, 266 present calls, max score 98.66.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.0169 / max 232.4580, expressed in 1553 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
66516	6.0071	1329
66515	3.8525	1327
66514	0.1573	60

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
granulocyte	CL:0000094	98.66	gold quality
leukocyte	CL:0000738	96.05	gold quality
monocyte	CL:0000576	95.86	gold quality
mononuclear cell	CL:0000842	95.85	gold quality
spleen	UBERON:0002106	95.63	gold quality
lymph node	UBERON:0000029	94.75	gold quality
blood	UBERON:0000178	94.51	gold quality
vermiform appendix	UBERON:0001154	94.39	gold quality
rectum	UBERON:0001052	93.54	gold quality
pylorus	UBERON:0001166	93.51	gold quality
caecum	UBERON:0001153	93.23	gold quality
gall bladder	UBERON:0002110	92.51	gold quality
stromal cell of endometrium	CL:0002255	92.13	gold quality
bone marrow cell	CL:0002092	92.07	gold quality
jejunal mucosa	UBERON:0000399	91.69	gold quality
lower lobe of lung	UBERON:0008949	91.35	gold quality
nasal cavity epithelium	UBERON:0005384	90.84	gold quality
right lung	UBERON:0002167	90.68	gold quality
superficial temporal artery	UBERON:0001614	90.60	gold quality
right adrenal gland	UBERON:0001233	90.45	gold quality
left adrenal gland	UBERON:0001234	90.29	gold quality
epithelium of nasopharynx	UBERON:0001951	90.26	gold quality
adrenal gland	UBERON:0002369	90.16	gold quality
adrenal cortex	UBERON:0001235	89.93	gold quality
right adrenal gland cortex	UBERON:0035827	89.85	gold quality
left adrenal gland cortex	UBERON:0035825	89.75	gold quality
palpebral conjunctiva	UBERON:0001812	89.61	gold quality
upper lobe of left lung	UBERON:0008952	89.43	gold quality
upper lobe of lung	UBERON:0008948	89.42	gold quality
right uterine tube	UBERON:0001302	89.30	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	13.17

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

75 targeting BTN3A2, 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-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-7152-3P	99.97	67.47	849
HSA-MIR-3605-5P	99.96	67.12	932
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-106A-5P	99.90	73.94	2683
HSA-MIR-17-5P	99.89	73.83	2665
HSA-MIR-106B-5P	99.88	74.72	2795
HSA-MIR-20A-5P	99.88	74.76	2769
HSA-MIR-20B-5P	99.88	74.01	2621
HSA-MIR-519D-3P	99.88	73.97	2607
HSA-MIR-526B-3P	99.88	74.06	2587
HSA-MIR-93-5P	99.88	73.98	2606
HSA-MIR-6124	99.87	69.78	3551
HSA-MIR-130B-5P	99.83	68.50	1888
HSA-MIR-6817-3P	99.79	68.35	2126
HSA-MIR-6505-5P	99.73	69.25	1595
HSA-MIR-7157-5P	99.66	69.33	1829
HSA-MIR-4690-5P	99.65	66.24	813
HSA-MIR-3158-5P	99.65	67.51	1763
HSA-MIR-6715B-5P	99.64	69.63	1420
HSA-MIR-488-3P	99.61	68.79	1731
HSA-MIR-4310	99.59	68.84	2527
HSA-MIR-3682-3P	99.58	67.63	865
HSA-MIR-6716-5P	99.56	68.62	1244
HSA-MIR-4269	99.55	69.89	1373
HSA-MIR-4437	99.52	65.29	1266
HSA-MIR-136-5P	99.50	67.26	1153
HSA-MIR-4687-3P	99.48	66.41	968

Literature-anchored findings (GeneRIF, showing 6)

• our results identify PRSS16 and BTN3A2, two genes thought to play important roles in regulating the immune response, as potentially novel susceptibility genes for Type I Deabetes. (PMID:19295542)
• Results suggest that BT3.2 butyrophilin expression by epithelial cells may modulates the intratumoral infiltration of immune cells. (PMID:22685580)
• Three SNPs in BTN3A2 were associated with schizophrenia, rs12214031, rs9393709 and rs12199613. There was no interaction between these SNPs and HSV-1, CMV or toxoplasma exposure. (PMID:22966150)
• BTN3A2 rs9104 was strongly associated with genotype 1 hepatitis C infection. (PMID:25928882)
• BTN3A2 genetic variants have role in gastric carcinogenesis. (PMID:28246015)
• CpG-specific DNA methylation of ADAMTSL2 and BTN3A2 at rheumatoid arthritis diagnosis can serve as a marker of treatment response. (PMID:28447857)

Cross-species orthologs

0 orthologs

Paralogs (15): BTN3A1 (ENSG00000026950), CD276 (ENSG00000103855), BTN3A3 (ENSG00000111801), BTN2A1 (ENSG00000112763), BTNL8 (ENSG00000113303), HHLA2 (ENSG00000114455), BTN2A2 (ENSG00000124508), BTN1A1 (ENSG00000124557), VTCN1 (ENSG00000134258), ICOSLG (ENSG00000160223), ERMAP (ENSG00000164010), BTNL9 (ENSG00000165810), BTNL3 (ENSG00000168903), BTNL2 (ENSG00000204290), MOG (ENSG00000204655)

Protein

Protein identifiers

Butyrophilin subfamily 3 member A2 — P78410 (reviewed: P78410)

All UniProt accessions (6): E9PIU5, E9PJE9, E9PRR1, E9PRX1, P78410, S4R3N0

UniProt curated annotations — full annotation on UniProt →

Function. Plays a role in T-cell responses in the adaptive immune response. Inhibits the release of IFNG from activated T-cells.

Subunit / interactions. Homodimer.

Subcellular location. Cell membrane.

Tissue specificity. Detected in T-cells and natural killer cells.

Post-translational modifications. N-glycosylated.

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

Isoforms (3)

UniProt ID	Names	Canonical?
P78410-1	1	yes
P78410-2	2
P78410-3	3

RefSeq proteins (5): NP_001184175, NP_001184176, NP_001184177, NP_001184178, NP_008978* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003599	Ig_sub	Domain
IPR007110	Ig-like_dom	Domain
IPR013106	Ig_V-set	Domain
IPR013783	Ig-like_fold	Homologous_superfamily
IPR036179	Ig-like_dom_sf	Homologous_superfamily
IPR050504	IgSF_BTN/MOG-like	Family
IPR053896	BTN3A2-like_Ig-C	Domain

Pfam: PF07686, PF22705

UniProt features (45 total): strand 15, sequence variant 5, sequence conflict 4, helix 4, turn 3, disulfide bond 2, splice variant 2, topological domain 2, modified residue 2, signal peptide 1, chain 1, transmembrane region 1, domain 1, coiled-coil region 1, glycosylation site 1

Structure

Experimental structures (PDB)

18 structures.

PDB	Method	Resolution (Å)
4F8Q	X-RAY DIFFRACTION	2.38
8ZHR	ELECTRON MICROSCOPY	3
9JQR	ELECTRON MICROSCOPY	3
9IRD	ELECTRON MICROSCOPY	3.2
9JQQ	ELECTRON MICROSCOPY	3.26
9JQP	ELECTRON MICROSCOPY	3.34
8ZJX	ELECTRON MICROSCOPY	3.35
8ZK0	ELECTRON MICROSCOPY	3.4
9L1P	ELECTRON MICROSCOPY	3.5
9KWE	ELECTRON MICROSCOPY	3.7
9KWZ	ELECTRON MICROSCOPY	3.7
9L1O	ELECTRON MICROSCOPY	3.7
8ZK1	ELECTRON MICROSCOPY	3.8
9J5M	ELECTRON MICROSCOPY	3.94
9L1Q	ELECTRON MICROSCOPY	4
9J5J	ELECTRON MICROSCOPY	4.05
9IIK	ELECTRON MICROSCOPY	4.12
9IY6	ELECTRON MICROSCOPY	10

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P78410-F1	90.23	0.73

Antibody-complex structures (SAbDab): 6 — 9JQP, 9KWE, 9KWZ, 9L1O, 9L1P, 9L1Q

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 (2): 282, 286

Disulfide bonds (2): 52–126, 166–220

Glycosylation sites (1): 115

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: 152 (showing top): BROWNE_HCMV_INFECTION_30MIN_DN, WALLACE_PROSTATE_CANCER_RACE_UP, GNF2_CASP8, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, MODULE_45, GOBP_ANTIGEN_RECEPTOR_MEDIATED_SIGNALING_PATHWAY, GOCC_CELL_SURFACE, GOBP_POSITIVE_REGULATION_OF_CYTOKINE_PRODUCTION, GHO_ATF5_TARGETS_DN, GOBP_LEUKOCYTE_MEDIATED_IMMUNITY, SHIPP_DLBCL_CURED_VS_FATAL_DN, GNF2_ZAP70, BROWNE_HCMV_INFECTION_48HR_DN, GOBP_REGULATION_OF_IMMUNE_RESPONSE, GOBP_LYMPHOCYTE_MEDIATED_IMMUNITY

GO Biological Process (6): regulation of cytokine production (GO:0001817), T cell mediated immunity (GO:0002456), positive regulation of type II interferon production (GO:0032729), T cell receptor signaling pathway (GO:0050852), adaptive immune response (GO:0002250), immune system process (GO:0002376)

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

GO Cellular Component (3): plasma membrane (GO:0005886), external side of plasma membrane (GO:0009897), 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	1
regulation of gene expression	1
regulation of multicellular organismal process	1
lymphocyte mediated immunity	1
adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains	1
positive regulation of cytokine production	1
type II interferon production	1
regulation of type II interferon production	1
antigen receptor-mediated signaling pathway	1
immune response	1
biological_process	1
protein binding	1
binding	1
membrane	1
cell periphery	1
plasma membrane	1
cell surface	1
side of membrane	1
cellular anatomical structure	1

Protein interactions and networks

STRING

814 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
BTN3A2	XDH	P47989	968
BTN3A2	PLIN2	Q99541	913
BTN3A2	MFGE8	Q08431	771
BTN3A2	TRIM27	P14373	597
BTN3A2	MUC1	P13931	588
BTN3A2	TRIM21	P19474	578
BTN3A2	PPL	O60437	578
BTN3A2	LTF	P02788	567
BTN3A2	GOT2	P00505	540
BTN3A2	CIDEA	O60543	500
BTN3A2	MUC15	Q8N387	492
BTN3A2	OMG	P23515	490
BTN3A2	PSMB9	P28065	483
BTN3A2	MEFV	O15553	478
BTN3A2	HLA-C	P04222	467

IntAct

21 interactions, top by confidence:

A	B	Type	Score
CCDC68	NDC80	psi-mi:“MI:0914”(association)	0.640
BTN3A2	BTN3A1	psi-mi:“MI:0915”(physical association)	0.600
BTN3A2	BTN3A1	psi-mi:“MI:0403”(colocalization)	0.600
BTN3A2	BTN3A1	psi-mi:“MI:0914”(association)	0.600
CLDN2	BTN3A2	psi-mi:“MI:0915”(physical association)	0.560
BTN3A2	OPTN	psi-mi:“MI:0915”(physical association)	0.560
BTN3A3	BTN3A1	psi-mi:“MI:0914”(association)	0.560
BTN3A2	BTN3A3	psi-mi:“MI:0914”(association)	0.530
BTN3A2	PILRA	psi-mi:“MI:0915”(physical association)	0.400
BTN3A2	LTF	psi-mi:“MI:0915”(physical association)	0.400
BTNL9	GPR89A	psi-mi:“MI:0914”(association)	0.350
BTNL9	TNPO2	psi-mi:“MI:0914”(association)	0.350
SLC39A11	ESYT2	psi-mi:“MI:0914”(association)	0.350
CLDN2	BTN3A2	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (59): BTN3A3 (Affinity Capture-MS), BTN3A1 (Affinity Capture-MS), ATP5G1 (Affinity Capture-MS), PEX13 (Affinity Capture-MS), BTN3A3 (Affinity Capture-MS), BTN3A1 (Affinity Capture-MS), PEX13 (Affinity Capture-MS), ATP5G1 (Affinity Capture-MS), TMEM245 (Affinity Capture-MS), BTN3A2 (Affinity Capture-MS), BTN3A2 (Synthetic Lethality), BTN3A2 (Proximity Label-MS), BTN3A2 (Proximity Label-MS), BTN3A2 (Two-hybrid), BTN3A2 (Proximity Label-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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	50
Likely benign	2
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

1715 predictions. Top by Δscore:

Variant	Effect	Δscore
6:26365350:GGG:G	donor_gain	1.0000
6:26365351:GGG:G	donor_gain	1.0000
6:26373007:G:GT	donor_gain	1.0000
6:26373038:G:GG	donor_gain	1.0000
6:26373262:T:TA	acceptor_gain	1.0000
6:26374369:GCTCT:G	donor_gain	1.0000
6:26374374:G:GG	donor_gain	1.0000
6:26374766:TTCA:T	acceptor_loss	1.0000
6:26374767:TCAGA:T	acceptor_loss	1.0000
6:26374768:CAGAA:C	acceptor_loss	1.0000
6:26374769:A:AG	acceptor_gain	1.0000
6:26374770:G:GG	acceptor_gain	1.0000
6:26374770:G:GT	acceptor_loss	1.0000
6:26374770:GA:G	acceptor_gain	1.0000
6:26365349:AGGG:A	donor_gain	0.9900
6:26365350:GGGG:G	donor_gain	0.9900
6:26365351:GG:G	donor_gain	0.9900
6:26365352:GG:G	donor_gain	0.9900
6:26365354:T:TC	donor_loss	0.9900
6:26365355:AAGT:A	donor_loss	0.9900
6:26367988:AGAT:A	acceptor_gain	0.9900
6:26367989:GATG:G	acceptor_gain	0.9900
6:26368564:GCTCA:G	acceptor_gain	0.9900
6:26368590:T:TA	acceptor_gain	0.9900
6:26372896:GACCC:G	acceptor_gain	0.9900
6:26373008:A:T	donor_gain	0.9900
6:26373026:G:GG	donor_gain	0.9900
6:26373034:GAAA:G	donor_gain	0.9900
6:26373081:GGAAA:G	donor_gain	0.9900
6:26373082:GAAA:G	donor_gain	0.9900

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000056196 (6:26366798 C>A,T), RS1000472640 (6:26376106 G>A,C), RS1000799251 (6:26365435 T>C,G), RS1001070120 (6:26369756 A>T), RS1001303462 (6:26364398 A>G), RS1001311199 (6:26374932 T>A,C), RS1001462666 (6:26368612 G>A,T), RS1001474005 (6:26377178 G>A), RS1001526572 (6:26376995 T>A,C), RS1002070067 (6:26375278 A>G), RS1002309253 (6:26365876 G>T), RS1002529291 (6:26378143 G>T), RS1003086145 (6:26372447 A>C), RS1003313820 (6:26367390 A>G,T), RS1003336609 (6:26376605 G>A)

Disease associations

OMIM: gene MIM:613594 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): breast ductal adenocarcinoma (MONDO:0005590)

Orphanet (0):

HPO phenotypes

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

GWAS associations

32 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_69	Autism spectrum disorder or schizophrenia	8.000000e-24
GCST004749_63	Lung cancer in ever smokers	1.000000e-07
GCST004750_81	Squamous cell lung carcinoma	1.000000e-10
GCST006269_708	General cognitive ability	2.000000e-09
GCST007576_156	Chronotype	7.000000e-10
GCST008152_120	Weight	4.000000e-06
GCST008972_169	Urate levels	1.000000e-19
GCST009109_11	Hip circumference variance	5.000000e-15
GCST009123_6	Hip circumference	4.000000e-13
GCST010002_50	Refractive error	4.000000e-34
GCST010043_138	Asthma	6.000000e-14
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
GCST011122_56	Walking pace	2.000000e-13
GCST012226_49	Waist circumference adjusted for body mass index	3.000000e-09
GCST90006900_2	Epstein-Barr virus VCA p18 antibody levels	1.000000e-08
GCST90016674_13	Liver iron content	8.000000e-95

EFO canonical traits (8, from GWAS)

EFO ID	Trait name
EFO:0004337	intelligence
EFO:0008328	chronotype measurement
EFO:0004338	body weight
EFO:0004531	urate measurement
EFO:0008111	diet measurement
EFO:0004346	neuroimaging measurement
EFO:0007789	BMI-adjusted waist circumference
EFO:0008039	BMI-adjusted hip circumference

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D018270	Carcinoma, Ductal, Breast	C04.557.470.200.025.232.500; C04.557.470.615.132.500; C04.588.180.390; C17.800.090.500.390

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression, decreases methylation, increases expression	6
sodium arsenite	decreases expression, affects cotreatment, increases abundance	3
Tobacco Smoke Pollution	decreases expression	3
Cyclosporine	decreases expression, increases expression	3
potassium chromate(VI)	affects cotreatment, decreases expression	2
(+)-JQ1 compound	decreases expression	2
Acetaminophen	decreases expression	2
Arsenic	affects cotreatment, decreases expression, increases abundance	2
Tretinoin	increases expression	2
Particulate Matter	decreases expression, increases abundance, increases expression	2
aristolochic acid I	decreases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases expression, increases methylation	1
trichostatin A	increases expression	1
beta-lapachone	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
perfluorooctanoic acid	decreases expression	1
tobacco tar	decreases expression, decreases reaction	1
manganese chloride	affects cotreatment, decreases expression, increases abundance	1
diallyl disulfide	decreases reaction, decreases expression	1
allyl sulfide	decreases expression, decreases reaction	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
chromium hexavalent ion	decreases expression	1
CGP 52608	affects binding, increases reaction	1
perfluoro-n-nonanoic acid	decreases expression	1
entinostat	increases expression	1
perfluorohexanesulfonic acid	decreases expression	1
ICG 001	increases expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B1LM	Abcam HeLa BTN3A2 KO	Cancer cell line	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT03414970	PHASE3	ACTIVE_NOT_RECRUITING	Hypofractionated Radiation Therapy After Mastectomy in Preventing Recurrence in Patients With Stage IIa-IIIa Breast Cancer
NCT00461344	PHASE2	TERMINATED	Docetaxel + Doxorubicin as Neoadjuvant Chemotherapy in Patients With Breast Cancer
NCT07499999	PHASE2	NOT_YET_RECRUITING	Randomized Double-Blind Phase II Trial of Baby Exemestane Versus Baby Tamoxifen in Post-Menopausal Women at High Risk for Breast Cancer
NCT00637364	PHASE1/PHASE2	SUSPENDED	High Intensity Focused Ultrasound Tumor Treatment for Pancreatic Cancer Pain
NCT02779855	PHASE1/PHASE2	COMPLETED	Talimogene Laherparepvec in Combination With Neoadjuvant Chemotherapy in Triple Negative Breast Cancer
NCT01753908	EARLY_PHASE1	COMPLETED	Broccoli Sprout Extract in Treating Patients With Breast Cancer
NCT01796041	EARLY_PHASE1	COMPLETED	Intraoperative Imaging of Breast Cancer With Indocyanine Green
NCT01208974	Not specified	ACTIVE_NOT_RECRUITING	Nipple-Areola Complex (NAC) Irradiation After Nipple-Sparing Mastectomy and Reconstruction
NCT01875198	Not specified	TERMINATED	Oncologic Impact of Splenectomy-omitting Radical Pancreatectomy in Well-selected Left-sided Pancreatic Cancer
NCT03543397	Not specified	UNKNOWN	MRI in Ductal Carcinoma in Situ (DCIS)
NCT03834532	Not specified	COMPLETED	Living Well After Breast Surgery