HLA-DQA2

Summary

HLA-DQA2 (major histocompatibility complex, class II, DQ alpha 2, HGNC:4943) is a protein-coding gene on chromosome 6p21.32, encoding HLA class II histocompatibility antigen, DQ alpha 2 chain (P01906). Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells.

This gene belongs to the HLA class II alpha chain family. The encoded protein forms a heterodimer with a class II beta chain. It is located in intracellular vesicles and plays a central role in the peptide loading of MHC class II molecules by helping to release the CLIP molecule from the peptide binding site. Class II molecules are expressed in antigen presenting cells (B lymphocytes, dendritic cells, macrophages) and are used to present antigenic peptides on the cell surface to be recognized by CD4 T-cells.

Source: NCBI Gene 3118 — RefSeq curated summary.

At a glance

• GWAS associations: 84
• Clinical variants (ClinVar): 17 total
• MANE Select transcript: NM_020056

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:4943
Approved symbol	HLA-DQA2
Name	major histocompatibility complex, class II, DQ alpha 2
Location	6p21.32
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000237541
Ensembl biotype	protein_coding
OMIM	613503
Entrez	3118

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000374940

RefSeq mRNA: 1 — MANE Select: NM_020056 NM_020056

CCDS: CCDS4753

Canonical transcript exons

ENST00000241802 — 0 exons

Expression profiles

Bgee: expression breadth ubiquitous, 127 present calls, max score 96.77.

FANTOM5 (CAGE): breadth broad, TPM avg 37.4275 / max 3898.0829, expressed in 472 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
67174	37.4275	472

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
granulocyte	CL:0000094	96.77	gold quality
vermiform appendix	UBERON:0001154	92.64	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	91.33	gold quality
lymph node	UBERON:0000029	90.19	gold quality
duodenum	UBERON:0002114	88.84	gold quality
spleen	UBERON:0002106	84.58	gold quality
right coronary artery	UBERON:0001625	83.75	gold quality
upper lobe of left lung	UBERON:0008952	83.32	gold quality
right lung	UBERON:0002167	82.96	gold quality
leukocyte	CL:0000738	82.67	gold quality
mucosa of transverse colon	UBERON:0004991	82.37	gold quality
monocyte	CL:0000576	82.05	gold quality
smooth muscle tissue	UBERON:0001135	79.34	gold quality
skin of abdomen	UBERON:0001416	78.68	gold quality
lung	UBERON:0002048	78.55	gold quality
zone of skin	UBERON:0000014	77.95	gold quality
blood	UBERON:0000178	77.87	gold quality
skin of leg	UBERON:0001511	77.21	gold quality
subcutaneous adipose tissue	UBERON:0002190	75.71	gold quality
gall bladder	UBERON:0002110	73.86	gold quality
small intestine Peyer’s patch	UBERON:0003454	73.71	gold quality
small intestine	UBERON:0002108	73.70	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	73.69	gold quality
left coronary artery	UBERON:0001626	73.09	gold quality
adipose tissue	UBERON:0001013	72.72	gold quality
metanephros cortex	UBERON:0010533	72.27	gold quality
tibial nerve	UBERON:0001323	71.72	gold quality
ascending aorta	UBERON:0001496	71.24	gold quality
thoracic aorta	UBERON:0001515	70.98	gold quality
rectum	UBERON:0001052	70.55	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	22.81

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): RFX5, RFXANK, RFXAP, STAT1

miRNA regulators (miRDB)

33 targeting HLA-DQA2, 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-3667-3P	99.99	67.17	1636
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-4778-3P	99.93	70.40	1818
HSA-MIR-5682	99.89	72.56	1005
HSA-MIR-3919	99.87	69.45	2489
HSA-MIR-765	99.84	68.24	2442
HSA-MIR-6739-5P	99.80	67.87	2806
HSA-MIR-4659A-3P	99.80	72.62	4248
HSA-MIR-4659B-3P	99.80	72.62	4248
HSA-MIR-577	99.78	69.13	2479
HSA-MIR-11181-3P	99.75	66.38	2205
HSA-MIR-6733-5P	99.74	67.94	2759
HSA-MIR-1976	99.74	65.48	1127
HSA-MIR-494-3P	99.70	71.45	2795
HSA-MIR-488-3P	99.61	68.79	1731
HSA-MIR-3153	99.55	67.59	2337
HSA-MIR-4441	99.49	66.56	3216
HSA-MIR-12131	99.48	68.72	1673
HSA-MIR-3915	99.45	68.49	1905
HSA-MIR-1253	99.12	67.08	1688
HSA-MIR-7854-3P	99.08	66.26	1117
HSA-MIR-2115-5P	98.66	68.07	1191
HSA-MIR-506-5P	98.02	67.41	1065
HSA-MIR-1972	97.67	67.38	1172
HSA-MIR-3201	97.16	65.42	1044
HSA-MIR-4689	96.97	65.79	1209
HSA-MIR-1270	96.94	66.65	931
HSA-MIR-620	96.94	66.79	888
HSA-MIR-3974	96.56	66.22	928
HSA-MIR-4791	96.51	67.76	659

Literature-anchored findings (GeneRIF, showing 7)

• a significant single nucleotide polymorphism , rs3998159, between HLA-DQB1 and HLA-DQA2 was identified in patients with asthma (PMID:20159242)
• Parkinson’s disease-associated SNP4 is correlated (r2=0.95) with variants that are associated with HLA-DQA2 expression. (PMID:22096524)
• Results indicate that two SNPs rs9468925 in HLA-C/HLA-B and rs2858881 in HLA-DQA2 were repeatedly selected in all models, suggesting that multiple loci outside PSOR1 locus were associated with psoriasis. (PMID:22125590)
• HLA-DQA2 and HLA-DQB2 genes are expressed in human Langerhans cells and encode a new HLA class II molecule. (PMID:22407913)
• HLA-DQB1/HLA-DQA2 rs9275328 may play a part in influencing the systemic lupus erythematosis susceptibility in Malays and Chinese in Malaysia. (PMID:23257407)
• Association of GWAS-supported noncoding area loci rs404860, rs3117098, and rs7775228 with asthma in Chinese Zhuang population. (PMID:31605414)
• Proteome-wide Mendelian randomization highlights AIF1 and HLA-DQA2 as targets for primary sclerosing cholangitis. (PMID:37950809)

Cross-species orthologs

10 orthologs

Organism	Symbol	Gene ID
danio_rerio	mhc2daa	ENSDARG00000031745
danio_rerio	mhc2d8.37a2	ENSDARG00000070206
danio_rerio	mhc2d8.37a1	ENSDARG00000074816
danio_rerio	mhc2d8.46a	ENSDARG00000075932
danio_rerio	zmp:0000001006	ENSDARG00000090839
danio_rerio	zgc:123107	ENSDARG00000101675
danio_rerio	si:busm1-194e12.8	ENSDARG00000103702
danio_rerio	mhc2dga	ENSDARG00000103716
danio_rerio	mhc2dca	ENSDARG00000114601
danio_rerio	mhc2d8.35a1	ENSDARG00000116565

Paralogs (13): B2M (ENSG00000166710), HLA-DQB1 (ENSG00000179344), HLA-DRB1 (ENSG00000196126), HLA-DQA1 (ENSG00000196735), HLA-DRB5 (ENSG00000198502), HLA-DOA (ENSG00000204252), HLA-DMA (ENSG00000204257), HLA-DRA (ENSG00000204287), HLA-DPB1 (ENSG00000223865), HLA-DPA1 (ENSG00000231389), HLA-DQB2 (ENSG00000232629), HLA-DOB (ENSG00000241106), HLA-DMB (ENSG00000242574)

Protein

Protein identifiers

HLA class II histocompatibility antigen, DQ alpha 2 chain — P01906 (reviewed: P01906)

Alternative names: DX alpha chain, HLA class II histocompatibility antigen, DQ(6) alpha chain, HLA-DQA1, MHC class II DQA2

All UniProt accessions (2): P01906, Q76NI6

UniProt curated annotations — full annotation on UniProt →

Function. Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteins that access the endocytic route, where they are processed by lysosomal proteases and other hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for presentation via MHC II molecules, and for this reason this antigen presentation pathway is usually referred to as exogenous. As membrane proteins on their way to degradation in lysosomes as part of their normal turn-over are also contained in the endosomal/lysosomal compartments, exogenous antigens must compete with those derived from endogenous components. Autophagy is also a source of endogenous peptides, autophagosomes constitutively fuse with MHC class II loading compartments. In addition to APCs, other cells of the gastrointestinal tract, such as epithelial cells, express MHC class II molecules and CD74 and act as APCs, which is an unusual trait of the GI tract. To produce a MHC class II molecule that presents an antigen, three MHC class II molecules (heterodimers of an alpha and a beta chain) associate with a CD74 trimer in the ER to form a heterononamer. Soon after the entry of this complex into the endosomal/lysosomal system where antigen processing occurs, CD74 undergoes a sequential degradation by various proteases, including CTSS and CTSL, leaving a small fragment termed CLIP (class-II-associated invariant chain peptide). The removal of CLIP is facilitated by HLA-DM via direct binding to the alpha-beta-CLIP complex so that CLIP is released. HLA-DM stabilizes MHC class II molecules until primary high affinity antigenic peptides are bound. The MHC II molecule bound to a peptide is then transported to the cell membrane surface. In B-cells, the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO. Primary dendritic cells (DCs) also to express HLA-DO. Lysosomal microenvironment has been implicated in the regulation of antigen loading into MHC II molecules, increased acidification produces increased proteolysis and efficient peptide loading.

Subunit / interactions. Heterodimer of an alpha and a beta subunit; also referred as MHC class II molecule. Dimer formation with HLA-DQB2, but not with HLA-DQB1, is required for efficient exit from the endoplasmic reticulum (ER). In the ER, forms a heterononamer; 3 MHC class II molecules bind to a CD74 homotrimer (also known as invariant chain or HLA class II histocompatibility antigen gamma chain). In the endosomal/lysosomal system; CD74 undergoes sequential degradation by various proteases; leaving a small fragment termed CLIP on each MHC class II molecule. MHC class II molecule interacts with HLA_DM, and HLA_DO in B-cells, in order to release CLIP and facilitate the binding of antigenic peptides. Association with HLA-DMA also occurs in skin Langerhans cells, in post-Golgi compartments.

Subcellular location. Cell membrane. Endoplasmic reticulum membrane. Golgi apparatus. trans-Golgi network membrane. Endosome membrane. Lysosome membrane.

Tissue specificity. Restricted to skin Langerhans cells, although some expression at low levels may occur at the surface of B lymphoblastoid cells.

Similarity. Belongs to the MHC class II family.

RefSeq proteins (1): NP_064440* (*=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 (16 total): region of interest 3, glycosylation site 2, sequence variant 2, sequence conflict 2, topological domain 2, signal peptide 1, chain 1, disulfide bond 1, transmembrane region 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P01906-F1	89.29	0.73

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

7 pathways

ID	Pathway
R-HSA-202424	Downstream TCR signaling
R-HSA-202427	Phosphorylation of CD3 and TCR zeta chains
R-HSA-202430	Translocation of ZAP-70 to Immunological synapse
R-HSA-202433	Generation of second messenger molecules
R-HSA-2132295	MHC class II antigen presentation
R-HSA-389948	Co-inhibition by PD-1
R-HSA-877300	Interferon gamma signaling

MSigDB gene sets: 153 (showing top): GOBP_REGULATION_OF_CELL_ACTIVATION, GOBP_ANTIGEN_PROCESSING_AND_PRESENTATION_OF_PEPTIDE_OR_POLYSACCHARIDE_ANTIGEN_VIA_MHC_CLASS_II, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, GOCC_VACUOLAR_MEMBRANE, GOBP_ANTIGEN_PROCESSING_AND_PRESENTATION_OF_PEPTIDE_ANTIGEN, GOLDRATH_ANTIGEN_RESPONSE, GOBP_POSITIVE_REGULATION_OF_CELL_ADHESION, GOBP_CELL_CELL_ADHESION, MARTINEZ_RB1_TARGETS_UP, KEGG_VIRAL_MYOCARDITIS, GOBP_REGULATION_OF_IMMUNE_RESPONSE, MCBRYAN_PUBERTAL_BREAST_4_5WK_DN, GOCC_TRANS_GOLGI_NETWORK, REACTOME_PHOSPHORYLATION_OF_CD3_AND_TCR_ZETA_CHAINS

GO Biological Process (9): adaptive immune response (GO:0002250), peptide antigen assembly with MHC class II protein complex (GO:0002503), immune response (GO:0006955), antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886), 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), 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 (18): Golgi membrane (GO:0000139), lysosomal membrane (GO:0005765), plasma membrane (GO:0005886), ER to Golgi transport vesicle membrane (GO:0012507), transport vesicle membrane (GO:0030658), endocytic vesicle membrane (GO:0030666), clathrin-coated endocytic vesicle membrane (GO:0030669), late endosome membrane (GO:0031902), trans-Golgi network membrane (GO:0032588), MHC class II protein complex (GO:0042613), lumenal side of endoplasmic reticulum membrane (GO:0098553), lysosome (GO:0005764), endosome (GO:0005768), endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), Golgi apparatus (GO:0005794), endosome membrane (GO:0010008), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
TCR signaling	4
Adaptive Immune System	1
Regulation of T cell activation by CD28 family	1
Interferon Signaling	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
bounding membrane of organelle	4
cytoplasmic vesicle membrane	3
endomembrane system	3
immune response	2
antigen processing and presentation of peptide antigen via MHC class II	2
immune system process	2
organelle membrane	2
cytoplasm	2
intracellular membrane-bounded organelle	2
MHC class II protein complex assembly	1
peptide antigen assembly with MHC protein complex	1
response to stimulus	1
antigen processing and presentation of exogenous peptide antigen	1
positive regulation of immune system process	1
positive regulation of response to stimulus	1
regulation of immune response	1
T cell activation	1
regulation of 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
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
Golgi apparatus	1
lysosome	1
lytic vacuole membrane	1
membrane	1
cell periphery	1
COPII-coated ER to Golgi transport vesicle	1
transport vesicle membrane	1
coated vesicle membrane	1
transport vesicle	1
endocytic vesicle	1
clathrin-coated vesicle membrane	1

Protein interactions and networks

STRING

1604 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
HLA-DQA2	HLA-DQB1	P01917	920
HLA-DQA2	HLA-B	P01889	858
HLA-DQA2	HLA-C	P04222	835
HLA-DQA2	HLA-A	P01891	822
HLA-DQA2	HLA-DRB1	P01911	808
HLA-DQA2	CD74	P04233	683
HLA-DQA2	BTNL2	Q9UIR0	670
HLA-DQA2	HLA-E	P13747	648
HLA-DQA2	IDO1	P14902	648
HLA-DQA2	HLA-G	P17693	648
HLA-DQA2	D6RGC4	D6RGC4	635
HLA-DQA2	MARCHF1	Q8TCQ1	635
HLA-DQA2	CD4	P01730	621
HLA-DQA2	PLA2R1	Q13018	621
HLA-DQA2	IFNG	P01579	610

IntAct

5 interactions, top by confidence:

A	B	Type	Score
HLA-DQA2	LHFPL5	psi-mi:“MI:0915”(physical association)	0.560
HLA-DQA1	TMEM131L	psi-mi:“MI:0914”(association)	0.350
LHFPL5	HLA-DQA2	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (2): HLA-DQA2 (Two-hybrid), HLA-DQA2 (Affinity Capture-MS)

ESM2 similar proteins: A0A5B9, A6NDV4, A6QLK4, B1AWJ5, E9PTA2, O75051, O94759, P01850, P01851, P01852, P01857, P01859, P01860, P01861, P01869, P01870, P01906, P01909, P03987, P06333, P0DSE2, P0DTU4, P11364, P15151, P15981, P20759, P20762, P32506, P54900, Q1WIM1, Q1WIM3, Q3TMX7, Q6P767, Q6ZRP7, Q7TQ33, Q812F8, Q8N126, Q8NFZ8, Q8R143, Q8R464

Diamond homologs: O42197, O77517, O77518, O77519, O77520, O77521, O77523, O77524, O77525, O77526, O77528, O77529, O77530, O77531, O77532, O77533, O77534, O77535, O77536, O77537, P01844, P01885, P01886, P01887, P01888, P01906, P01910, P04227, P04228, P04440, P07151, P14434, P14435, P14436, P14437, P14438, P15981, P16213, P19341, P20036

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
“RFX complex”	“up-regulates quantity by expression”	HLA-DQA2	“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	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

688 predictions. Top by Δscore:

Variant	Effect	Δscore
6:32741522:GTGG:G	donor_gain	1.0000
6:32741524:GG:G	donor_gain	1.0000
6:32741525:GG:G	donor_gain	1.0000
6:32741526:G:GG	donor_gain	1.0000
6:32741527:T:G	donor_loss	1.0000
6:32745129:A:AG	acceptor_gain	1.0000
6:32745130:C:G	acceptor_gain	1.0000
6:32745136:T:TA	acceptor_gain	1.0000
6:32745178:T:TA	acceptor_gain	1.0000
6:32741523:TGG:T	donor_gain	0.9900
6:32741524:GGG:G	donor_gain	0.9900
6:32741528:GAG:G	donor_loss	0.9900
6:32745177:AT:A	acceptor_gain	0.9900
6:32745789:A:AG	acceptor_gain	0.9900
6:32745790:G:GG	acceptor_gain	0.9900
6:32745790:GA:G	acceptor_gain	0.9900
6:32745863:T:TA	acceptor_gain	0.9900
6:32745884:T:TA	acceptor_gain	0.9900
6:32746068:CTGGG:C	donor_gain	0.9900
6:32746070:GGG:G	donor_gain	0.9900
6:32746071:GG:G	donor_gain	0.9900
6:32746071:GGG:G	donor_gain	0.9900
6:32746071:GGGT:G	donor_loss	0.9900
6:32746072:GG:G	donor_gain	0.9900
6:32746073:GTA:G	donor_loss	0.9900
6:32746074:T:G	donor_loss	0.9900
6:32746078:GA:G	donor_gain	0.9900
6:32741521:TGTGG:T	donor_gain	0.9800
6:32741522:GTGGG:G	donor_gain	0.9800
6:32741523:TGGGT:T	donor_gain	0.9800

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000207156 (6:32743282 C>T), RS1000578913 (6:32743618 A>G), RS1001853244 (6:32745144 A>G), RS1003624784 (6:32742662 T>C), RS1003899086 (6:32743628 C>A,T), RS1005984739 (6:32742330 A>C), RS1006123124 (6:32741211 C>A,T), RS1006190050 (6:32746458 G>A), RS1006731924 (6:32743662 A>G), RS1006922733 (6:32746046 T>G), RS1008523437 (6:32739434 G>A), RS1010135543 (6:32743655 G>A), RS1010275729 (6:32743855 C>A), RS1010652651 (6:32746845 T>C), RS1010791089 (6:32740346 C>T)

Disease associations

OMIM: gene MIM:613503 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

84 associations (top):

Study	Trait	p-value
GCST000217_1	Rheumatoid arthritis	1.000000e-09
GCST000629_1	Knee osteoarthritis	5.000000e-09
GCST000719_8	Alopecia areata	1.000000e-35
GCST000771_2	Narcolepsy	3.000000e-08
GCST000879_24	Crohn’s disease	4.000000e-11
GCST000996_20	Systemic lupus erythematosus	2.000000e-12
GCST000996_24	Systemic lupus erythematosus	8.000000e-06
GCST001183_13	Asthma	5.000000e-12
GCST001316_7	IgE levels	1.000000e-08
GCST001474_7	Hypothyroidism	5.000000e-07
GCST001550_1	Type 2 diabetes	1.000000e-06
GCST001708_5	Systemic lupus erythematosus	3.000000e-22
GCST001739_3	IgE levels	6.000000e-06
GCST001784_25	Pulmonary function (smoking interaction)	4.000000e-09
GCST001784_43	Pulmonary function (smoking interaction)	4.000000e-09
GCST001785_9	Crohn’s disease	9.000000e-59
GCST001826_4	Lymphoma	4.000000e-10
GCST001826_7	Lymphoma	2.000000e-06
GCST001848_158	IgG glycosylation	4.000000e-08
GCST001848_627	IgG glycosylation	2.000000e-08
GCST001892_7	Multiple sclerosis (OCB status)	6.000000e-11
GCST002300_1	Rheumatoid arthritis	3.000000e-12
GCST002433_1	Rheumatoid arthritis	7.000000e-14
GCST002433_11	Rheumatoid arthritis	2.000000e-13
GCST002433_2	Rheumatoid arthritis	3.000000e-12
GCST002463_1	Systemic lupus erythematosus	5.000000e-16
GCST002490_1	Chronic hepatitis B infection	2.000000e-12
GCST002490_5	Chronic hepatitis B infection	1.000000e-12
GCST002783_237	Body mass index	6.000000e-06
GCST002783_417	Body mass index	9.000000e-06

EFO canonical traits (24, from GWAS)

EFO ID	Trait name
EFO:0003892	pulmonary function measurement
EFO:0004713	FEV/FVC ratio
EFO:0005193	serum IgG glycosylation measurement
EFO:0005206	oligoclonal band measurement
EFO:0004340	body mass index
EFO:0007017	peanut allergy measurement
EFO:1001488	influenza A (H1N1)
EFO:0004314	forced expiratory volume
EFO:0008377	mosquito bite reaction itch intensity measurement
EFO:0008378	mosquito bite reaction size measurement
EFO:0004645	response to vaccine
EFO:0004305	erythrocyte count
EFO:0009785	remission
EFO:0004541	HbA1c measurement
EFO:0006927	severe aplastic anemia
EFO:0006782	cups of coffee per day measurement
EFO:0007874	gut microbiome measurement
EFO:0004574	total cholesterol measurement
EFO:0004611	low density lipoprotein cholesterol measurement
EFO:0004918	age at diagnosis
EFO:0009101	age at first birth measurement
EFO:0007789	BMI-adjusted waist circumference
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0009885	frailty measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

9 total (human), top 9 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
propionaldehyde	increases expression	1
perfluorooctanoic acid	increases expression	1
S-(1,2-dichlorovinyl)cysteine	decreases reaction, increases expression	1
CGP 52608	affects binding, increases reaction	1
Arsenic	decreases expression	1
Benzo(a)pyrene	affects methylation, decreases methylation	1
Lipopolysaccharides	increases expression, decreases reaction	1
Sodium Dodecyl Sulfate	affects response to substance	1
Tobacco Smoke Pollution	affects expression	1

Clinical trials (associated diseases)

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