HLA-DOA

Summary

HLA-DOA (major histocompatibility complex, class II, DO alpha, HGNC:4936) is a protein-coding gene on chromosome 6p21.32, encoding HLA class II histocompatibility antigen, DO alpha chain (P06340). Important modulator in the HLA class II restricted antigen presentation pathway by interaction with the HLA-DM molecule in B-cells.

HLA-DOA belongs to the HLA class II alpha chain paralogues. HLA-DOA forms a heterodimer with HLA-DOB. The heterodimer, HLA-DO, is found in lysosomes in B cells and regulates HLA-DM-mediated peptide loading on MHC class II molecules. In comparison with classical HLA class II molecules, this gene exhibits very little sequence variation, especially at the protein level.

Source: NCBI Gene 3111 — RefSeq curated summary.

At a glance

• GWAS associations: 13
• Clinical variants (ClinVar): 17 total
• MANE Select transcript: NM_002119

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:4936
Approved symbol	HLA-DOA
Name	major histocompatibility complex, class II, DO alpha
Location	6p21.32
Locus type	gene with protein product
Status	Approved
Aliases	HLA-D0-alpha
Ensembl gene	ENSG00000204252
Ensembl biotype	protein_coding
OMIM	142930
Entrez	3111

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 3 protein_coding, 3 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000229829, ENST00000374813, ENST00000467465, ENST00000485901, ENST00000490305, ENST00000495532, ENST00000892664

RefSeq mRNA: 1 — MANE Select: NM_002119 NM_002119

CCDS: CCDS4763

Canonical transcript exons

ENST00000229829 — 5 exons

Exon	Start	End
ENSE00001700496	33008013	33008261
ENSE00001836674	33004182	33006841
ENSE00002266713	33009455	33009591
ENSE00003627006	33007080	33007215
ENSE00003715654	33007311	33007592

Expression profiles

Bgee: expression breadth ubiquitous, 133 present calls, max score 94.57.

FANTOM5 (CAGE): breadth broad, TPM avg 7.8466 / max 464.7706, expressed in 650 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
73058	7.3404	644
73057	0.3805	153
73056	0.1258	42

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
lymph node	UBERON:0000029	94.57	gold quality
vermiform appendix	UBERON:0001154	91.81	gold quality
granulocyte	CL:0000094	90.52	gold quality
spleen	UBERON:0002106	89.50	gold quality
gall bladder	UBERON:0002110	87.10	gold quality
leukocyte	CL:0000738	83.83	gold quality
monocyte	CL:0000576	83.18	gold quality
blood	UBERON:0000178	82.14	gold quality
tonsil	UBERON:0002372	81.57	gold quality
upper lobe of left lung	UBERON:0008952	80.26	gold quality
right lung	UBERON:0002167	79.80	gold quality
lung	UBERON:0002048	79.57	gold quality
rectum	UBERON:0001052	79.00	gold quality
duodenum	UBERON:0002114	78.50	gold quality
smooth muscle tissue	UBERON:0001135	78.03	gold quality
tibial nerve	UBERON:0001323	77.74	gold quality
fallopian tube	UBERON:0003889	77.58	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	77.58	gold quality
small intestine	UBERON:0002108	77.44	gold quality
small intestine Peyer’s patch	UBERON:0003454	77.33	gold quality
right coronary artery	UBERON:0001625	76.86	gold quality
adult mammalian kidney	UBERON:0000082	76.53	gold quality
bone marrow cell	CL:0002092	75.94	gold quality
colonic epithelium	UBERON:0000397	75.50	gold quality
cortex of kidney	UBERON:0001225	75.25	gold quality
urinary bladder	UBERON:0001255	75.06	gold quality
bone marrow	UBERON:0002371	74.97	gold quality
kidney	UBERON:0002113	74.95	gold quality
subcutaneous adipose tissue	UBERON:0002190	74.92	gold quality
metanephros cortex	UBERON:0010533	74.79	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.10
E-ENAD-27	no	4.53

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CIITA, RFX5, RFXANK, RFXAP

miRNA regulators (miRDB)

84 targeting HLA-DOA, 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-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-188-3P	100.00	68.76	1240
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-6793-5P	99.97	65.95	758
HSA-MIR-145-5P	99.92	71.13	1836
HSA-MIR-5195-3P	99.92	70.92	1877
HSA-MIR-10527-5P	99.91	72.28	3754
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-6844	99.82	70.69	2423
HSA-MIR-4307	99.82	70.45	3374
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-548AJ-5P	99.78	71.12	3085
HSA-MIR-548F-5P	99.78	71.02	3093
HSA-MIR-548G-5P	99.78	71.12	3085
HSA-MIR-548X-5P	99.78	71.12	3085
HSA-MIR-4713-5P	99.78	67.80	1794
HSA-MIR-1273H-5P	99.77	66.32	2471
HSA-MIR-12130	99.75	65.47	452
HSA-MIR-6745	99.74	65.33	1321
HSA-MIR-6752-3P	99.72	66.71	1587
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-1197	99.70	67.75	1027

Literature-anchored findings (GeneRIF, showing 14)

• HLA-DOA mutations were analyzed for association with autoimmune diseases and B-cell leukemias. (PMID:12439622)
• In transgenic mice expressing human HLA-DOA & HLA-DOB from a DC-specific promoter, as DO increased, A(b)-CLIP increased & class II-peptides decreased. DO impaired H-2M function, causing Ag-specific downmodulation of class II Ag processing/presentation. (PMID:15265882)
• These results show that transduced DO modulates antigen presentation in human mature MoDC, evoking the possible use of this chaperone for immunotherapy. (PMID:15817706)
• four novel HLA-DOA alleles, DOA*010106, DOA*0102, DOA*0103, and DOA*0104N, were identified by sequence-based typing (PMID:16101837)
• minor allele of the SNP rs9296068 is significantly associated with liver transplantation rejection and with enhanced B-lymphocyte participation in rejection, likely because of a dysfunctional HLA-DOA gene product. (PMID:18639552)
• HLA-DOA polymorphisms are associated with Diabetes Mellitus, Type 1. (PMID:19458622)
• analysis of the HLA-DO/HLA-DM complex by FRET and mutagenesis (PMID:22733780)
• results show that HLA-DO inhibits HLA-DM function by acting as a substrate mimic, and the findings also limit the possible functional roles for HLA-DO in antigen presentation (PMID:23222639)
• HLA-DOA, HLA-DRA, and HLA-DQA1 associated with spontaneous autoimmunity (PMID:24384427)
• HLA-DO regulates surface presentation of human leukocyte antigen class II-restricted antigens on B cell malignancies. (PMID:24530695)
• significant association was found between white wine liking and rs9276975:C>T polymorphism in the HLA-DOA gene. (PMID:25758996)
• TAP2, HLA-DOA, HLA-DOB, and tapasin loci are novel candidate regions for susceptibility to HCV infection and viral clearance in the Chinese population (PMID:25874709)
• pH-susceptibility of HLA-DO tunes DO/DM ratios to regulate HLA-DM catalytic activity. (PMID:26610428)
• Contribution of a Non-classical HLA Gene, HLA-DOA, to the Risk of Rheumatoid Arthritis (PMID:27486778)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	H2-Oa	ENSMUSG00000024334
rattus_norvegicus	RT1-DOa	ENSRNOG00000026762

Paralogs (13): B2M (ENSG00000166710), HLA-DQB1 (ENSG00000179344), HLA-DRB1 (ENSG00000196126), HLA-DQA1 (ENSG00000196735), HLA-DRB5 (ENSG00000198502), HLA-DMA (ENSG00000204257), HLA-DRA (ENSG00000204287), HLA-DPB1 (ENSG00000223865), HLA-DPA1 (ENSG00000231389), HLA-DQB2 (ENSG00000232629), HLA-DQA2 (ENSG00000237541), HLA-DOB (ENSG00000241106), HLA-DMB (ENSG00000242574)

Protein

Protein identifiers

HLA class II histocompatibility antigen, DO alpha chain — P06340 (reviewed: P06340)

Alternative names: MHC DN-alpha, MHC DZ alpha, MHC class II antigen DOA

All UniProt accessions (32): A0A1V0E3M7, A0A1V0E3N1, A0A1V0E3N3, A0A1V0E3N6, A0A1V0E3N7, A0A1V0E3P0, A0A1V0E3P1, A0A1V0E3P3, A0A1V0E3P6, A0A1V0E3P8, A0A1V0E3P9, A0A1V0E3Q1, A0A1V0E3Q2, A0A1V0E3Q3, A0A1V0E3Q4, A0A1V0E3Q5, A0A1V0E3Q6, A0A1V0E3Q7, A0A1V0E3Q8, A0A1V0E3R0, A0A1V0E3R3, A0A1V0E3R4, A0A1V0E3R6, A0A1V0E3R8, A0A1V0E3S0, A0A1V0E3S4, A0A1V0E3S6, A0A1V0E3S7, A0A1V0E3T1, P06340, F6WU08, X5CF87

UniProt curated annotations — full annotation on UniProt →

Function. Important modulator in the HLA class II restricted antigen presentation pathway by interaction with the HLA-DM molecule in B-cells. Modifies peptide exchange activity of HLA-DM.

Subunit / interactions. Heterodimer of an alpha chain (DOA) and a beta chain (DOB). Forms a heterotetrameric complex with an HLA-DM molecule during intracellular transport in endosomal/lysosomal compartments in B-cells.

Subcellular location. Endosome membrane. Lysosome membrane.

Polymorphism. The following alleles of DOA are known: DOA01:01, DOA01:02 and DOA01:03. The sequence shown is that of DOA01:01.

Similarity. Belongs to the MHC class II family.

RefSeq proteins (1): NP_002110* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001003	MHC_II_a_N	Domain
IPR003006	Ig/MHC_CS	Conserved_site
IPR003597	Ig_C1-set	Domain
IPR007110	Ig-like_dom	Domain
IPR011162	MHC_I/II-like_Ag-recog	Homologous_superfamily
IPR013783	Ig-like_fold	Homologous_superfamily
IPR014745	MHC_II_a/b_N	Homologous_superfamily
IPR036179	Ig-like_dom_sf	Homologous_superfamily
IPR050160	MHC/Immunoglobulin	Family

Pfam: PF00993, PF07654

UniProt features (32 total): strand 13, helix 4, region of interest 3, glycosylation site 2, sequence variant 2, topological domain 2, signal peptide 1, chain 1, disulfide bond 1, turn 1, transmembrane region 1, domain 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
4I0P	X-RAY DIFFRACTION	3.2

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P06340-F1	89.82	0.71

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): 133–189

Glycosylation sites (2): 144, 104

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-2132295	MHC class II antigen presentation

MSigDB gene sets: 274 (showing top): GOBP_REGULATION_OF_CELL_ACTIVATION, GOBP_ANTIGEN_PROCESSING_AND_PRESENTATION_OF_PEPTIDE_OR_POLYSACCHARIDE_ANTIGEN_VIA_MHC_CLASS_II, MODULE_169, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, GOCC_VACUOLAR_MEMBRANE, GOBP_REGULATION_OF_ANTIGEN_PROCESSING_AND_PRESENTATION_OF_PEPTIDE_ANTIGEN, MODULE_522, MODULE_64, MODULE_128, HSIAO_HOUSEKEEPING_GENES, GAURNIER_PSMD4_TARGETS, GOBP_ANTIGEN_PROCESSING_AND_PRESENTATION_OF_PEPTIDE_ANTIGEN, MODULE_143, GOBP_POSITIVE_REGULATION_OF_CELL_ADHESION, GOBP_CELL_CELL_ADHESION

GO Biological Process (11): adaptive immune response (GO:0002250), peptide antigen assembly with MHC class II protein complex (GO:0002503), negative regulation of antigen processing and presentation of peptide antigen via MHC class II (GO:0002587), antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886), regulation of T cell differentiation (GO:0045580), positive regulation of immune response (GO:0050778), positive regulation of T cell activation (GO:0050870), immune system process (GO:0002376), antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002504), immune response (GO:0006955), antigen processing and presentation (GO:0019882)

GO Molecular Function (4): MHC class II protein complex binding (GO:0023026), MHC class II receptor activity (GO:0032395), peptide antigen binding (GO:0042605), protein binding (GO:0005515)

GO Cellular Component (8): lysosomal membrane (GO:0005765), plasma membrane (GO:0005886), late endosome membrane (GO:0031902), MHC class II protein complex (GO:0042613), lysosome (GO:0005764), endosome (GO:0005768), endosome membrane (GO:0010008), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Adaptive Immune System	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
antigen processing and presentation of peptide antigen via MHC class II	3
immune response	2
regulation of T cell activation	2
immune system process	2
MHC class II protein complex assembly	1
peptide antigen assembly with MHC protein complex	1
negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II	1
negative regulation of antigen processing and presentation of peptide antigen	1
regulation of antigen processing and presentation of peptide antigen via MHC class II	1
antigen processing and presentation of exogenous peptide antigen	1
T cell differentiation	1
regulation of lymphocyte differentiation	1
positive regulation of immune system process	1
positive regulation of response to stimulus	1
regulation of immune response	1
T cell activation	1
positive regulation of lymphocyte activation	1
positive regulation of leukocyte cell-cell adhesion	1
biological_process	1
antigen processing and presentation	1
response to stimulus	1
MHC protein complex binding	1
transmembrane signaling receptor activity	1
MHC class II protein binding	1
immune receptor activity	1
antigen binding	1
peptide binding	1
binding	1
lysosome	1
lytic vacuole membrane	1
membrane	1
cell periphery	1
late endosome	1
endosome membrane	1
MHC protein complex	1
lytic vacuole	1
endomembrane system	1
cytoplasmic vesicle	1
endosome	1
cytoplasmic vesicle membrane	1

Protein interactions and networks

STRING

872 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
HLA-DOA	BRD2	P25440	834
HLA-DOA	BRD3	Q15059	825
HLA-DOA	HLA-B	P01889	769
HLA-DOA	HLA-A	P01891	597
HLA-DOA	HLA-C	P04222	590
HLA-DOA	HLA-DMA	P28067	569
HLA-DOA	HLA-E	P13747	522
HLA-DOA	HLA-DQB1	P01917	508
HLA-DOA	CYP21A2	P04033	507
HLA-DOA	DRC2	Q8IXS2	491
HLA-DOA	HLA-DOB	P13765	486
HLA-DOA	HLA-DPB1	P01916	480
HLA-DOA	C1QB	P02746	479
HLA-DOA	HLA-G	P17693	452
HLA-DOA	HLA-DRA	P01903	444

IntAct

13 interactions, top by confidence:

A	B	Type	Score
HLA-DMA	HLA-DOA	psi-mi:“MI:0915”(physical association)	0.590
HLA-DMA	HLA-DOA	psi-mi:“MI:0407”(direct interaction)	0.590
HLA-DMA	HLA-DOA	psi-mi:“MI:0914”(association)	0.590
REL	HLA-DOA	psi-mi:“MI:0915”(physical association)	0.560
ITM2A	NDUFB5	psi-mi:“MI:0914”(association)	0.530
HLA-DOA	HLA-DOB	psi-mi:“MI:0407”(direct interaction)	0.440
HLA-DOA	H3-4	psi-mi:“MI:0915”(physical association)	0.400
HTR3A	GPAA1	psi-mi:“MI:0914”(association)	0.350
HTR3A	EXTL3	psi-mi:“MI:0914”(association)	0.350

BioGRID (6): REL (Two-hybrid), HLA-DOA (Affinity Capture-MS), HLA-DOA (Affinity Capture-MS), HIST3H3 (Proximity Label-MS), HLA-DOA (Affinity Capture-MS), HLA-DOA (Affinity Capture-MS)

ESM2 similar proteins: P01864, P01865, P01867, P01869, P01893, P01895, P01896, P01897, P01898, P01899, P01903, P01904, P01906, P01909, P01910, P03987, P04223, P04224, P04227, P04228, P04439, P06339, P06340, P13753, P14426, P14428, P14434, P14435, P14436, P14437, P14438, P14439, P15980, P15981, P16209, P16211, P20036, P20037, P20755, P23150

Diamond homologs: A0A5B9, A0M8Q6, B9A064, P01834, P01835, P01836, P01837, P01838, P01839, P01840, P01841, P01843, P01844, P01845, P01846, P01847, P01850, P01851, P01852, P01855, P01857, P01859, P01860, P01861, P01862, P01863, P01864, P01865, P01867, P01868, P01869, P01870, P01876, P01877, P01906, P01909, P03984, P03987, P03988, P04221

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
CIITA	“up-regulates quantity by expression”	HLA-DOA	“transcriptional regulation”
“RFX complex”	“up-regulates quantity by expression”	HLA-DOA	“transcriptional regulation”

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

695 predictions. Top by Δscore:

Variant	Effect	Δscore
6:33007099:ATGTG:A	donor_gain	1.0000
6:33007214:CT:C	acceptor_gain	1.0000
6:33007216:C:CC	acceptor_gain	1.0000
6:33008284:C:CT	acceptor_gain	1.0000
6:33007217:T:G	acceptor_loss	0.9900
6:33007306:CGTAC:C	donor_loss	0.9900
6:33007308:TACC:T	donor_loss	0.9900
6:33007309:AC:A	donor_gain	0.9900
6:33007310:CC:C	donor_gain	0.9900
6:33007370:T:TA	donor_gain	0.9900
6:33007593:C:CC	acceptor_gain	0.9900
6:33008278:C:CT	acceptor_gain	0.9900
6:33008285:A:T	acceptor_gain	0.9900
6:33009453:AC:A	donor_gain	0.9900
6:33009454:CC:C	donor_gain	0.9900
6:33009472:T:TA	donor_gain	0.9900
6:33007211:GAGCT:G	acceptor_gain	0.9800
6:33007309:ACC:A	donor_gain	0.9800
6:33007310:CCC:C	donor_gain	0.9800
6:33007454:C:CA	donor_gain	0.9800
6:33007591:CA:C	acceptor_gain	0.9800
6:33007968:CTGG:C	donor_gain	0.9800
6:33007976:T:TA	donor_gain	0.9800
6:33008279:A:T	acceptor_gain	0.9800
6:33009448:CACT:C	donor_loss	0.9800
6:33009451:TCACC:T	donor_loss	0.9800
6:33009452:CAC:C	donor_loss	0.9800
6:33009453:A:AC	donor_gain	0.9800
6:33009453:A:C	donor_loss	0.9800
6:33009454:C:CC	donor_gain	0.9800

AlphaMissense

1624 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:33007411:G:C	F171L	0.965
6:33007411:G:T	F171L	0.965
6:33007413:A:G	F171L	0.965
6:33007507:G:C	F139L	0.965
6:33007507:G:T	F139L	0.965
6:33007509:A:G	F139L	0.965
6:33007483:C:A	W147C	0.962
6:33007483:C:G	W147C	0.962
6:33007485:A:G	W147R	0.962
6:33007485:A:T	W147R	0.962
6:33007435:G:C	F163L	0.959
6:33007435:G:T	F163L	0.959
6:33007437:A:G	F163L	0.959
6:33007412:A:C	F171C	0.946
6:33008230:G:C	F38L	0.943
6:33008230:G:T	F38L	0.943
6:33008232:A:G	F38L	0.943
6:33008200:G:C	F48L	0.938
6:33008200:G:T	F48L	0.938
6:33008202:A:G	F48L	0.938
6:33007527:A:G	C133R	0.936
6:33007525:G:C	C133W	0.930
6:33007526:C:G	C133S	0.925
6:33007527:A:T	C133S	0.925
6:33008188:A:C	F52L	0.921
6:33008188:A:T	F52L	0.921
6:33008190:A:G	F52L	0.921
6:33007526:C:T	C133Y	0.920
6:33007402:G:C	F174L	0.915
6:33007402:G:T	F174L	0.915

dbSNP variants (sampled 300 via entrez): RS1000345977 (6:33008774 G>A), RS1000717381 (6:33008868 A>G,T), RS1002083573 (6:33004625 G>A), RS1002460930 (6:33010661 T>A), RS1002749401 (6:33007079 C>T), RS1003759495 (6:33005820 G>C), RS1003830148 (6:33006080 C>A,T), RS1004392765 (6:33011352 C>T), RS1004498914 (6:33009457 T>C), RS1004603165 (6:33006021 T>C), RS1005876782 (6:33008358 C>T), RS1006471211 (6:33006937 C>T), RS1006907733 (6:33009676 T>C,G), RS1007109357 (6:33007361 T>C), RS1007837641 (6:33007968 C>G,T)

Disease associations

OMIM: gene MIM:142930 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

13 associations (top):

Study	Trait	p-value
GCST001183_14	Asthma	4.000000e-09
GCST001337_18	Platelet count	1.000000e-10
GCST002126_8	Periodontitis (CDC/AAP)	9.000000e-06
GCST002160_5	Wegener’s granulomatosis	2.000000e-50
GCST002802_1	White wine liking	2.000000e-08
GCST002803_2	Red wine liking	8.000000e-06
GCST002879_3	Chronic hepatitis B infection	1.000000e-23
GCST003817_8	Mortality in sepsis	2.000000e-06
GCST004521_255	Autism spectrum disorder or schizophrenia	6.000000e-11
GCST004748_118	Lung cancer	1.000000e-06
GCST006085_83	Prostate cancer	1.000000e-08
GCST008916_90	Asthma	4.000000e-15
GCST011426_21	Systemic lupus erythematosus	5.000000e-08

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0004309	platelet count
EFO:0006948	white wine liking measurement
EFO:0006947	red wine liking measurement
EFO:0004352	mortality

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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
sodium arsenite	affects methylation, increases expression	2
mercuric bromide	decreases expression, affects cotreatment	2
Benzo(a)pyrene	affects methylation, increases expression	2
Carbamazepine	affects expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
p-Chloromercuribenzoic Acid	affects cotreatment, decreases expression	2
aristolochic acid I	increases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
propionaldehyde	increases expression	1
bisphenol A	affects cotreatment, increases methylation	1
butyraldehyde	increases expression	1
pentanal	increases expression	1
2-palmitoylglycerol	increases expression	1
entinostat	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
nutlin 3	affects cotreatment, increases expression	1
Grape Seed Proanthocyanidins	affects cotreatment, increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
bisphenol S	affects cotreatment, decreases methylation	1
Bortezomib	decreases expression	1
Gefitinib	affects expression	1
Fulvestrant	affects cotreatment, increases methylation, decreases methylation	1
Aldehydes	increases expression	1
Benzalkonium Compounds	affects response to substance	1
Catechin	affects cotreatment, increases expression	1
Cefazolin	affects expression	1
Dactinomycin	affects cotreatment, increases expression	1
Indapamide	affects expression	1
Lead	decreases expression	1

Clinical trials (associated diseases)

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