BTN2A1

Summary

BTN2A1 (butyrophilin subfamily 2 member A1, HGNC:1136) is a protein-coding gene on chromosome 6p22.2, encoding Butyrophilin subfamily 2 member A1 (Q7KYR7).

This gene encodes a member of the immunoglobulin superfamily. The gene is located in a cluster of butyrophilin-like genes in the juxta-telomeric region of the major histocompatibility complex on chromosome 6. A pseudogene of this gene has been identified in this cluster. The encoded protein is an integral plasma membrane protein involved in lipid, fatty-acid, and sterol metabolism. Alterations in this gene may be associated with several disease states including metabolic syndrome. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 11120 — RefSeq curated summary.

At a glance

• GWAS associations: 30
• Clinical variants (ClinVar): 111 total
• Druggable target: yes
• MANE Select transcript: NM_007049

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1136
Approved symbol	BTN2A1
Name	butyrophilin subfamily 2 member A1
Location	6p22.2
Locus type	gene with protein product
Status	Approved
Aliases	BT2.1, BTF1, BTN2.1
Ensembl gene	ENSG00000112763
Ensembl biotype	protein_coding
OMIM	613590
Entrez	11120

Gene structure

Transcript identifiers

Ensembl transcripts: 16 — 15 protein_coding, 1 nonsense_mediated_decay

ENST00000312541, ENST00000377600, ENST00000429381, ENST00000469185, ENST00000480218, ENST00000493173, ENST00000541522, ENST00000897005, ENST00000897006, ENST00000897007, ENST00000897008, ENST00000897009, ENST00000897010, ENST00000897011, ENST00000957668, ENST00000957669

RefSeq mRNA: 4 — MANE Select: NM_007049 NM_001197233, NM_001197234, NM_007049, NM_078476

CCDS: CCDS4613, CCDS47390, CCDS56404, CCDS56405

Canonical transcript exons

ENST00000312541 — 8 exons

Exon	Start	End
ENSE00000848295	26458607	26458718
ENSE00001347619	26467948	26469637
ENSE00001904806	26457955	26458142
ENSE00003513256	26463244	26463525
ENSE00003595587	26465185	26465406
ENSE00003630618	26466062	26466088
ENSE00003677215	26459481	26459828
ENSE00003680105	26465953	26465973

Expression profiles

Bgee: expression breadth ubiquitous, 286 present calls, max score 94.55.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 16.0578 / max 118.2848, expressed in 1804 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
66529	14.8554	1803
66528	1.0938	525
66530	0.1086	38

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
granulocyte	CL:0000094	94.55	gold quality
spleen	UBERON:0002106	92.21	gold quality
cerebellar hemisphere	UBERON:0002245	91.76	gold quality
cerebellar cortex	UBERON:0002129	91.74	gold quality
blood	UBERON:0000178	91.56	gold quality
cerebellum	UBERON:0002037	91.45	gold quality
popliteal artery	UBERON:0002250	91.43	gold quality
tibial artery	UBERON:0007610	91.42	gold quality
endothelial cell	CL:0000115	91.32	silver quality
right hemisphere of cerebellum	UBERON:0014890	91.09	gold quality
smooth muscle tissue	UBERON:0001135	90.95	gold quality
aorta	UBERON:0000947	90.89	gold quality
descending thoracic aorta	UBERON:0002345	90.76	gold quality
lymph node	UBERON:0000029	90.72	gold quality
right coronary artery	UBERON:0001625	90.54	gold quality
leukocyte	CL:0000738	90.51	gold quality
mononuclear cell	CL:0000842	90.44	gold quality
monocyte	CL:0000576	90.41	gold quality
thoracic aorta	UBERON:0001515	90.22	gold quality
middle temporal gyrus	UBERON:0002771	90.20	gold quality
body of uterus	UBERON:0009853	90.15	gold quality
ascending aorta	UBERON:0001496	90.10	gold quality
cerebellar vermis	UBERON:0004720	90.03	gold quality
left coronary artery	UBERON:0001626	89.73	gold quality
endometrium epithelium	UBERON:0004811	89.57	gold quality
thymus	UBERON:0002370	89.53	silver quality
left uterine tube	UBERON:0001303	89.47	gold quality
calcaneal tendon	UBERON:0003701	89.42	gold quality
coronary artery	UBERON:0001621	89.29	gold quality
stromal cell of endometrium	CL:0002255	89.15	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.66

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

59 targeting BTN2A1, 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-4283	100.00	66.42	2097
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-4500	99.99	72.72	2367
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-MIR-98-5P	99.98	72.33	1787
HSA-MIR-7152-3P	99.97	67.47	849
HSA-LET-7D-5P	99.96	71.76	1632
HSA-MIR-4458	99.96	71.64	1650
HSA-MIR-185-3P	99.95	67.01	1743
HSA-MIR-380-3P	99.89	70.18	1978
HSA-MIR-7162-3P	99.89	68.16	1682
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-765	99.84	68.24	2442
HSA-MIR-4495	99.82	72.08	3080
HSA-MIR-609	99.82	64.26	505
HSA-MIR-548AG	99.77	69.25	1492
HSA-MIR-11181-3P	99.75	66.38	2205
HSA-MIR-6745	99.74	65.33	1321
HSA-MIR-378G	99.71	64.90	1106
HSA-MIR-548M	99.70	68.87	1749
HSA-MIR-548AI	99.69	69.24	1494
HSA-MIR-548BA	99.69	69.14	1514
HSA-MIR-570-5P	99.69	69.24	1494

Literature-anchored findings (GeneRIF, showing 16)

• Rather than interacting with T cells, butyrophilin BTN2A1 is recognized by DC-SIGN on immature monocyte-derived dendritic cells. (PMID:17785817)
• BTN2A1 may be a susceptibility gene for myocardial infarction in Japanese individuals. (PMID:21211798)
• associations of rs6929846 of butyrophilin subfamily 2 member A1 to myocardial infarction among individuals stratified by the absence or presence of hypertension, diabetes mellitus and chronic kidney disease (PMID:21347509)
• The relationship between rs6929846 of BTN2A1 or rs2569512 of ILF3 and myocardial infarction is influenced by the serum concentrations of high density lipoprotein cholesterol and low density lipoprotein cholesterol, respectively. (PMID:21468600)
• BTN2A1 may be a susceptibility gene for hypertension in Japanese individuals, with the T allele being related to high blood pressure. (PMID:21525964)
• Results suggest that BTN2A1 may be a susceptibility gene for chronic kidney disease in Japanese individuals. (PMID:21557786)
• BTN2A1 may be a susceptibility gene for Type 2 diabetes in Japanese individuals (PMID:21672009)
• Genotype distributions and allele frequencies of the C/T polymorphism (rs6929846) were significantly associated with metabolic syndrome in Japanese subjects, but not in the Korean population. (PMID:21784758)
• Genetic variants of APOA5 and BTN2A1 may synergistically affect the prevalence of dyslipidemia in East Asian populations and of metabolic syndrome in Japanese individuals. (PMID:22576629)
• A comparison of the allele frequencies or genotype distributions by the chi2 test revealed that rs6929846 of BTN2A1 was significantly associated with dyslipidemia. (PMID:24452779)
• Soluble BTN2A1 Is a Potential Prognosis Biomarker in Pre-Treated Advanced Renal Cell Carcinoma. (PMID:33959132)
• BTN2A1, an immune checkpoint targeting Vgamma9Vdelta2 T cell cytotoxicity against malignant cells. (PMID:34260935)
• The intracellular domain of BTN2A1 binds to the intracellular domain of BTN3A1 only in the presence of phosphoantigen. (PMID:35081362)
• BTN3A Targeting Vgamma9Vdelta2 T Cells Antimicrobial Activity Against Coxiella burnetii-Infected Cells. (PMID:35833118)
• Mutations to the BTN2A1 Linker Region Impact Its Homodimerization and Its Cytoplasmic Interaction with Phospho-Antigen-Bound BTN3A1. (PMID:37171180)
• Phosphoantigens glue butyrophilin 3A1 and 2A1 to activate Vgamma9Vdelta2 T cells. (PMID:37674084)

Cross-species orthologs

8 orthologs

Organism	Symbol	Gene ID
		ENSDARG00000004109
danio_rerio	zgc:123297	ENSDARG00000056798
danio_rerio	cabz01076234.2	ENSDARG00000067794
danio_rerio	si:dkey-208m12.2	ENSDARG00000071143
danio_rerio		ENSDARG00000100113
danio_rerio	si:cabz01076234.3	ENSDARG00000102296
		ENSDARG00000103273
danio_rerio	zgc:162154	ENSDARG00000110702

Paralogs (15): BTN3A1 (ENSG00000026950), CD276 (ENSG00000103855), BTN3A3 (ENSG00000111801), BTNL8 (ENSG00000113303), HHLA2 (ENSG00000114455), BTN2A2 (ENSG00000124508), 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 A1 — Q7KYR7 (reviewed: Q7KYR7)

All UniProt accessions (4): C9JNC3, Q7KYR7, H7BYC3, H7C542

UniProt curated annotations — full annotation on UniProt →

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.

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

Isoforms (6)

UniProt ID	Names	Canonical?
Q7KYR7-2	1	yes
Q7KYR7-1	2
Q7KYR7-3	3
Q7KYR7-4	4
Q7KYR7-5	5
Q7KYR7-6	6

RefSeq proteins (4): NP_001184162, NP_001184163, NP_008980, NP_510961 (=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 (72 total): strand 31, splice variant 8, sequence variant 6, helix 6, turn 6, sequence conflict 4, glycosylation site 3, topological domain 2, domain 2, signal peptide 1, chain 1, disulfide bond 1, transmembrane region 1

Structure

Experimental structures (PDB)

33 structures, top 30 by resolution.

PDB	Method	Resolution (Å)
8IGT	X-RAY DIFFRACTION	1.56
8DFW	X-RAY DIFFRACTION	2.1
8JYE	X-RAY DIFFRACTION	2.18
8JYC	X-RAY DIFFRACTION	2.29
8VC7	X-RAY DIFFRACTION	2.76
8ZHR	ELECTRON MICROSCOPY	3
9JQR	ELECTRON MICROSCOPY	3
9IRD	ELECTRON MICROSCOPY	3.2
9JQQ	ELECTRON MICROSCOPY	3.26
9II6	ELECTRON MICROSCOPY	3.27
9JQ6	ELECTRON MICROSCOPY	3.34
9JQP	ELECTRON MICROSCOPY	3.34
8ZJX	ELECTRON MICROSCOPY	3.35
8ZK0	ELECTRON MICROSCOPY	3.4
8ZAA	ELECTRON MICROSCOPY	3.46
9L1P	ELECTRON MICROSCOPY	3.5
8DFY	X-RAY DIFFRACTION	3.55
8ZAB	ELECTRON MICROSCOPY	3.67
8ZA9	ELECTRON MICROSCOPY	3.7
8ZJY	ELECTRON MICROSCOPY	3.7
9KWZ	ELECTRON MICROSCOPY	3.7
8ZJZ	ELECTRON MICROSCOPY	3.8
8ZK1	ELECTRON MICROSCOPY	3.8
8ZK3	ELECTRON MICROSCOPY	3.8
9DPE	ELECTRON MICROSCOPY	3.86
9J5M	ELECTRON MICROSCOPY	3.94
9L1Q	ELECTRON MICROSCOPY	4
9J5J	ELECTRON MICROSCOPY	4.05
8ZYR	ELECTRON MICROSCOPY	4.07
9IIK	ELECTRON MICROSCOPY	4.12

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q7KYR7-F1	85.38	0.60

Antibody-complex structures (SAbDab): 7 — 8VC7, 9DPE, 9JQ6, 9JQP, 9KWZ, 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.

Disulfide bonds (1): 51–125

Glycosylation sites (3): 46, 114, 120

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: 134 (showing top): REACTOME_ADAPTIVE_IMMUNE_SYSTEM, MODULE_255, GOBP_ANTIGEN_RECEPTOR_MEDIATED_SIGNALING_PATHWAY, MODULE_317, GOCC_CELL_SURFACE, BROWNE_HCMV_INFECTION_12HR_UP, PATIL_LIVER_CANCER, GOBP_REGULATION_OF_IMMUNE_RESPONSE, GOBP_CYTOKINE_PRODUCTION, GOBP_T_CELL_RECEPTOR_SIGNALING_PATHWAY, GOBP_LIPID_METABOLIC_PROCESS, PRAMOONJAGO_SOX4_TARGETS_UP, GOMF_SIGNALING_RECEPTOR_BINDING, DANG_BOUND_BY_MYC, KAYO_AGING_MUSCLE_UP

GO Biological Process (3): regulation of cytokine production (GO:0001817), lipid metabolic process (GO:0006629), T cell receptor signaling pathway (GO:0050852)

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
primary metabolic process	1
antigen receptor-mediated signaling pathway	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

0 interactions, top by confidence (×1000):

IntAct

26 interactions, top by confidence:

A	B	Type	Score
BTN2A1	POTEF	psi-mi:“MI:0914”(association)	0.530
ZNRF4	UPK3BL1	psi-mi:“MI:0914”(association)	0.530
CD1B	TOR1B	psi-mi:“MI:0914”(association)	0.530
HLA-DPA1	TYW5	psi-mi:“MI:0914”(association)	0.530
FBXO2	TMEM131L	psi-mi:“MI:0914”(association)	0.530
HLA-DPA1	GXYLT2	psi-mi:“MI:0914”(association)	0.350
PTCH1	PLXNB2	psi-mi:“MI:0914”(association)	0.350
	VPS37C	psi-mi:“MI:0914”(association)	0.350
CACNA1C	IGLL5	psi-mi:“MI:0914”(association)	0.350
HCN1	POTEF	psi-mi:“MI:0914”(association)	0.350
CANX	HLA-A	psi-mi:“MI:0914”(association)	0.350
RAMP3	GOLIM4	psi-mi:“MI:0914”(association)	0.350
EDDM3B	PLXNB2	psi-mi:“MI:0914”(association)	0.350
HTR3A	EXTL3	psi-mi:“MI:0914”(association)	0.350
BTN2A1	TNFRSF10A	psi-mi:“MI:0914”(association)	0.350
RAMP3	MGST3	psi-mi:“MI:0914”(association)	0.350
CLGN	TMEM131L	psi-mi:“MI:0914”(association)	0.350
RAMP3	TMEM223	psi-mi:“MI:0914”(association)	0.350
TMEM169	PTGES3L-AARSD1	psi-mi:“MI:0914”(association)	0.350
SLC3A1	ILVBL	psi-mi:“MI:0914”(association)	0.350
CFTR	UBA6	psi-mi:“MI:2364”(proximity)	0.270
BTN2A1	pyrB	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (113): BTN2A1 (Affinity Capture-MS), BTN2A2 (Affinity Capture-MS), BLZF1 (Affinity Capture-MS), TYW1 (Affinity Capture-MS), SGPL1 (Affinity Capture-MS), ATP2A3 (Affinity Capture-MS), OCRL (Affinity Capture-MS), RAB3GAP1 (Affinity Capture-MS), POTEF (Affinity Capture-MS), OSBP (Affinity Capture-MS), PLCB1 (Affinity Capture-MS), PIK3R3 (Affinity Capture-MS), PDZD8 (Affinity Capture-MS), HMGCR (Affinity Capture-MS), UPK3BL (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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	83
Likely benign	14
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

1469 predictions. Top by Δscore:

Variant	Effect	Δscore
6:26458143:GTA:G	donor_loss	1.0000
6:26459479:A:AG	acceptor_gain	1.0000
6:26459480:G:GG	acceptor_gain	1.0000
6:26459480:GCCCA:G	acceptor_gain	1.0000
6:26459827:AGGTG:A	donor_loss	1.0000
6:26459828:GGTG:G	donor_loss	1.0000
6:26459830:T:A	donor_loss	1.0000
6:26462898:G:GG	donor_gain	1.0000
6:26463505:A:T	donor_gain	1.0000
6:26465388:G:GT	donor_gain	1.0000
6:26458139:GAAG:G	donor_gain	0.9900
6:26459480:G:T	acceptor_loss	0.9900
6:26459480:GCC:G	acceptor_gain	0.9900
6:26459480:GCCC:G	acceptor_gain	0.9900
6:26459788:C:T	donor_gain	0.9900
6:26459824:GGCAG:G	donor_gain	0.9900
6:26459825:GCAG:G	donor_gain	0.9900
6:26459825:GCAGG:G	donor_gain	0.9900
6:26463521:TCCAG:T	donor_loss	0.9900
6:26463522:CCAGG:C	donor_loss	0.9900
6:26463523:CAGG:C	donor_loss	0.9900
6:26463524:AG:A	donor_loss	0.9900
6:26463525:GGT:G	donor_loss	0.9900
6:26463526:G:GC	donor_loss	0.9900
6:26463527:T:A	donor_loss	0.9900
6:26465216:A:AG	acceptor_gain	0.9900
6:26465217:G:GG	acceptor_gain	0.9900
6:26465403:AAAG:A	donor_gain	0.9900
6:26465416:GC:G	donor_gain	0.9900
6:26465974:G:GG	donor_gain	0.9900

AlphaMissense

3442 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:26468157:T:A	W398R	0.985
6:26468157:T:C	W398R	0.985
6:26468352:T:C	F463L	0.985
6:26468354:C:A	F463L	0.985
6:26468354:C:G	F463L	0.985
6:26468070:T:C	F369L	0.981
6:26468072:C:A	F369L	0.981
6:26468072:C:G	F369L	0.981
6:26468127:T:A	W388R	0.980
6:26468127:T:C	W388R	0.980
6:26468129:G:C	W388C	0.980
6:26468129:G:T	W388C	0.980
6:26459594:T:A	W66R	0.979
6:26459594:T:C	W66R	0.979
6:26468353:T:C	F463S	0.977
6:26468166:G:T	G401W	0.974
6:26468167:G:A	G401E	0.973
6:26468226:T:C	F421L	0.969
6:26468228:C:A	F421L	0.969
6:26468228:C:G	F421L	0.969
6:26468166:G:A	G401R	0.968
6:26468166:G:C	G401R	0.968
6:26468320:T:A	V452D	0.965
6:26468089:T:A	V375D	0.963
6:26468347:T:A	V461D	0.962
6:26463321:T:A	W170R	0.959
6:26463321:T:C	W170R	0.959
6:26468128:G:C	W388S	0.959
6:26468428:T:C	F488S	0.959
6:26468106:T:C	F381L	0.958

dbSNP variants (sampled 300 via entrez): RS1000091952 (6:26474829 A>G), RS1000478944 (6:26467544 T>G), RS1000567954 (6:26474551 C>A,T), RS1000602351 (6:26469706 T>C), RS1000695357 (6:26457568 T>C), RS1001065619 (6:26477041 T>C), RS1001643925 (6:26470881 G>A,C), RS1001741896 (6:26458550 G>A,T), RS1001764626 (6:26464936 C>G,T), RS1002011371 (6:26471099 T>C), RS1002146870 (6:26464572 A>G), RS1002365687 (6:26469465 G>A), RS1002418205 (6:26469026 G>C), RS1002704207 (6:26460096 C>A), RS1002769115 (6:26466183 A>G)

Disease associations

OMIM: gene MIM:613590 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

30 associations (top):

Study	Trait	p-value
GCST004521_113	Autism spectrum disorder or schizophrenia	3.000000e-19
GCST004521_208	Autism spectrum disorder or schizophrenia	5.000000e-17
GCST004521_215	Autism spectrum disorder or schizophrenia	5.000000e-13
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
GCST004749_64	Lung cancer in ever smokers	3.000000e-07
GCST005316_550	Intelligence (MTAG)	7.000000e-09
GCST005316_625	Intelligence (MTAG)	6.000000e-14
GCST006269_1156	General cognitive ability	3.000000e-08
GCST006269_383	General cognitive ability	1.000000e-10
GCST008832_6	Gastroesophageal reflux disease	1.000000e-10
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
GCST011381_9	Cutaneous mastocytosis	3.000000e-07
GCST011656_14	Lung cancer	9.000000e-09
GCST011766_11	Chronic obstructive pulmonary disease	3.000000e-12
GCST012228_144	Waist-hip index	5.000000e-11
GCST012230_342	Waist-to-hip ratio adjusted for BMI	3.000000e-11
GCST90000514_4	Gastroesophageal reflux disease	2.000000e-13

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0004337	intelligence
EFO:0008111	diet measurement
EFO:0004346	neuroimaging measurement
EFO:0007788	BMI-adjusted waist-hip ratio

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6067598 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression	3
Cadmium	decreases reaction, increases abundance, increases palmitoylation, decreases expression	2
Cyclosporine	increases expression	2
Cadmium Chloride	decreases reaction, increases abundance, increases palmitoylation, decreases expression	2
aristolochic acid I	increases expression	1
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
triphenyl phosphate	affects expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
sodium arsenite	increases abundance, increases expression, affects cotreatment	1
butyraldehyde	increases expression	1
2-bromopalmitate	increases palmitoylation, decreases reaction, increases abundance	1
manganese chloride	affects cotreatment, increases abundance, increases expression	1
versicolorin A	increases expression	1
beta-methylcholine	affects expression	1
pentanal	increases expression	1
abrine	increases expression	1
jinfukang	affects cotreatment, decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Arbutin	decreases expression	1
Arsenic	affects cotreatment, increases abundance, increases expression	1
Benzo(a)pyrene	increases expression	1
Cisplatin	affects cotreatment, decreases expression	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Ethyl Methanesulfonate	increases expression	1
Formaldehyde	increases expression	1
Manganese	increases expression, affects cotreatment, increases abundance	1
Methyl Methanesulfonate	increases expression	1
Smoke	decreases expression	1
Thiram	increases expression	1
Tobacco Smoke Pollution	increases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5609768	Binding	Binding affinity to C-terminal luciferase-tagged butyrophilin 2A1 transfected in human K562 cells assessed as BRET ratio at 100 uM incubated for 24 hrs by BRET assay (Rvb = 1.00 No_unit)	Synthesis and evaluation of (E)-4-hydroxy-3-methyl-but-2-enyl diphosphate analogs as competitive partial agonists of butyrophilin 3A1. — Eur J Med Chem

Clinical trials (associated diseases)

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