HLA-DQB2

Summary

HLA-DQB2 (major histocompatibility complex, class II, DQ beta 2, HGNC:4945) is a protein-coding gene on chromosome 6p21.32, encoding HLA class II histocompatibility antigen, DQ beta 2 chain (P05538). 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.

HLA-DQB2 belongs to the family of HLA class II beta chain paralogs. Class II molecules are heterodimers consisting of an alpha (DQA) and a beta chain (DQB), both anchored in the membrane. They play a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). Polymorphisms in the alpha and beta chains specify the peptide binding specificity, and typing for these polymorphisms is routinely done for bone marrow transplantation. However this gene, HLA-DQB2, is not routinely typed, as it is not thought to have an effect on transplantation. There is conflicting evidence in the literature and public sequence databases for the protein-coding capacity of HLA-DQB2. Because there is evidence of transcription and an intact ORF, HLA-DQB2 is represented in Entrez Gene and in RefSeq as a protein-coding locus.

Source: NCBI Gene 3120 — RefSeq curated summary.

At a glance

• GWAS associations: 50
• Clinical variants (ClinVar): 13 total
• MANE Select transcript: NM_001300790

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:4945
Approved symbol	HLA-DQB2
Name	major histocompatibility complex, class II, DQ beta 2
Location	6p21.32
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000232629
Ensembl biotype	protein_coding
OMIM	615161
Entrez	3120

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 7 protein_coding

ENST00000411527, ENST00000427449, ENST00000435145, ENST00000437316, ENST00000870921, ENST00000870922, ENST00000870923

RefSeq mRNA: 2 — MANE Select: NM_001300790 NM_001198858, NM_001300790

CCDS: CCDS56419, CCDS78128

Canonical transcript exons

ENST00000399661 — 0 exons

Expression profiles

Bgee: expression breadth ubiquitous, 127 present calls, max score 91.49.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 9.4850 / max 8294.9634, expressed in 91 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
73011	7.6651	88
73010	1.1465	11
73012	0.5551	12
73007	0.0813	4
73009	0.0234	3
73008	0.0097	5
203959	0.0039	2

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
lymph node	UBERON:0000029	91.49	gold quality
granulocyte	CL:0000094	91.31	gold quality
skin of abdomen	UBERON:0001416	91.04	gold quality
zone of skin	UBERON:0000014	90.54	gold quality
skin of leg	UBERON:0001511	90.03	gold quality
vermiform appendix	UBERON:0001154	86.57	gold quality
upper lobe of left lung	UBERON:0008952	84.34	gold quality
leukocyte	CL:0000738	83.70	gold quality
monocyte	CL:0000576	83.11	gold quality
spleen	UBERON:0002106	82.83	gold quality
duodenum	UBERON:0002114	82.74	gold quality
right lung	UBERON:0002167	82.17	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	80.43	gold quality
lung	UBERON:0002048	79.26	gold quality
blood	UBERON:0000178	77.20	gold quality
apex of heart	UBERON:0002098	75.35	gold quality
right coronary artery	UBERON:0001625	74.94	gold quality
subcutaneous adipose tissue	UBERON:0002190	74.56	gold quality
gall bladder	UBERON:0002110	74.22	gold quality
esophagus mucosa	UBERON:0002469	74.21	gold quality
mucosa of transverse colon	UBERON:0004991	73.80	gold quality
smooth muscle tissue	UBERON:0001135	73.53	gold quality
adipose tissue	UBERON:0001013	72.60	gold quality
left coronary artery	UBERON:0001626	72.51	gold quality
rectum	UBERON:0001052	72.13	gold quality
tibial nerve	UBERON:0001323	72.06	gold quality
small intestine Peyer’s patch	UBERON:0003454	71.42	gold quality
small intestine	UBERON:0002108	70.95	gold quality
thoracic mammary gland	UBERON:0005200	70.35	gold quality
vagina	UBERON:0000996	69.99	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 5.

Experiment	Marker?	Max mean expression
E-GEOD-139324	yes	221.60
E-MTAB-8142	yes	82.42
E-MTAB-9435	yes	71.88
E-ANND-3	yes	18.98
E-CURD-85	yes	18.86

Regulation

Is transcription factor: no

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

miRNA regulators (miRDB)

29 targeting HLA-DQB2, 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-6870-5P	99.99	68.55	2115
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-6835-3P	99.93	70.49	2904
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-4668-5P	99.79	70.58	3782
HSA-MIR-148A-3P	99.74	73.77	1700
HSA-MIR-148B-3P	99.74	73.75	1700
HSA-MIR-152-3P	99.74	73.75	1703
HSA-MIR-3175	99.65	66.30	2031
HSA-MIR-4261	99.59	70.30	3415
HSA-MIR-4472	99.56	66.08	1478
HSA-MIR-147B-5P	99.45	70.62	2432
HSA-MIR-6722-3P	99.45	67.62	1919
HSA-MIR-580-5P	99.28	70.94	1776
HSA-MIR-3945	98.68	64.21	553
HSA-MIR-1227-5P	98.65	65.32	1549
HSA-MIR-6887-5P	98.56	68.49	1295
HSA-MIR-6795-5P	98.52	68.51	1277
HSA-MIR-4450	98.26	68.35	725
HSA-MIR-1285-3P	97.72	67.02	1932
HSA-MIR-5189-5P	97.72	66.96	1814
HSA-MIR-4253	97.48	65.11	692
HSA-MIR-6862-5P	97.48	64.84	713
HSA-MIR-194-3P	97.36	65.96	1027
HSA-MIR-3189-3P	96.80	66.34	896
HSA-MIR-541-3P	96.07	66.11	1271
HSA-MIR-654-5P	96.07	66.18	1280

Literature-anchored findings (GeneRIF, showing 5)

• Data show that two peptides with naturally processed DQ8 (DQA1 *0301/DQB1 *0302) epitopes bound protective DR0403 with longer half-life and lower dissociation rate than susceptible DR0401, confirming DR0403 as a better peptide competitor than DR0401. (PMID:21257290)
• HLA-DQA2 and HLA-DQB2 genes are expressed in human Langerhans cells and encode a new HLA class II molecule. (PMID:22407913)
• this study shows that HLA-DQ gene polymorphisms are associated with ankylosing spondylitis in Southwest China (PMID:27394003)
• No statistically significant association was found between rs7453920 SNP and chronic hepatitis B. (PMID:28613373)
• The functional HLA-DQB2 rs7453920 G>A polymorphism may contribute to the genetic susceptibility to pulmonary tuberculosis in the Chinese Uygur population. (PMID:30600606)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	H2-Ab1	ENSMUSG00000073421
rattus_norvegicus	RT1-Bb	ENSRNOG00000032708

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-DQA2 (ENSG00000237541), HLA-DOB (ENSG00000241106), HLA-DMB (ENSG00000242574)

Protein

Protein identifiers

HLA class II histocompatibility antigen, DQ beta 2 chain — P05538 (reviewed: P05538)

Alternative names: HLA class II histocompatibility antigen, DX beta chain, MHC class II antigen DQB2

All UniProt accessions (4): P05538, A2ADX3, H0Y7Y7, Q5SR05

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-DQA2, but not with HLA-DQA1, 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 (at protein level).

Similarity. Belongs to the MHC class II family.

Isoforms (2)

UniProt ID	Names	Canonical?
P05538-1	1	yes
P05538-2	2

RefSeq proteins (2): NP_001185787, NP_001287719* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000353	MHC_II_b_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: PF00969, PF07654

UniProt features (18 total): sequence variant 3, disulfide bond 2, splice variant 2, sequence conflict 2, topological domain 2, region of interest 2, signal peptide 1, chain 1, transmembrane region 1, domain 1, glycosylation site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P05538-F1	86.87	0.66

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 (2): 148–204, 47–110

Glycosylation sites (1): 51

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: 125 (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, GAURNIER_PSMD4_TARGETS, GOBP_ANTIGEN_PROCESSING_AND_PRESENTATION_OF_PEPTIDE_ANTIGEN, GOBP_POSITIVE_REGULATION_OF_CELL_ADHESION, GOBP_CELL_CELL_ADHESION, GOBP_REGULATION_OF_IMMUNE_RESPONSE, GOCC_TRANS_GOLGI_NETWORK, REACTOME_PHOSPHORYLATION_OF_CD3_AND_TCR_ZETA_CHAINS, GOBP_ANTIGEN_PROCESSING_AND_PRESENTATION, TGCTGAY_UNKNOWN, GOCC_COATED_VESICLE

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 (3): MHC class II protein complex binding (GO:0023026), MHC class II receptor activity (GO:0032395), peptide antigen binding (GO:0042605)

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
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
endocytic vesicle membrane	1

Protein interactions and networks

STRING

1528 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
HLA-DQB2	CD74	P04233	742
HLA-DQB2	HLA-DMA	P28067	700
HLA-DQB2	HLA-DRA	P01903	617
HLA-DQB2	HLA-DQA2	P01906	581
HLA-DQB2	HLA-DPA1	P01905	527
HLA-DQB2	IRF7	Q92985	491
HLA-DQB2	COL11A2	P13942	488
HLA-DQB2	MCCD1	P59942	461
HLA-DQB2	PSMB9	P28065	460
HLA-DQB2	PSMB8	P28062	458
HLA-DQB2	ERAP2	Q6P179	449
HLA-DQB2	DNAH2	Q9P225	448
HLA-DQB2	BRD2	P25440	444
HLA-DQB2	TCF19	Q9Y242	423
HLA-DQB2	IL18R1	Q13478	421

IntAct

4 interactions, top by confidence:

A	B	Type	Score
HLA-DQB2	POTEF	psi-mi:“MI:0914”(association)	0.530
PRL	HLA-DQB2	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (15): OAF (Affinity Capture-MS), ATE1 (Affinity Capture-MS), COL14A1 (Affinity Capture-MS), TRMT44 (Affinity Capture-MS), ERAP1 (Affinity Capture-MS), HLA-DQB2 (Affinity Capture-MS), HLA-DQB2 (Affinity Capture-MS), ATE1 (Affinity Capture-MS), POTEF (Affinity Capture-MS), COL14A1 (Affinity Capture-MS), PRPS2 (Affinity Capture-MS), HLA-DQB2 (Affinity Capture-MS), ATE1 (Affinity Capture-MS), POTEF (Affinity Capture-MS), TRMT44 (Affinity Capture-MS)

ESM2 similar proteins: C1ITJ8, O19477, O35799, P01901, P01902, P01920, P01921, P04440, P05538, P06339, P06341, P06342, P06343, P06344, P06345, P06346, P13765, P14428, P14429, P14432, P14483, P15464, P15979, P15982, P15983, P16391, P18467, P18469, P18470, P23068, P25311, P29826, P60018, P70387, Q29980, Q29983, Q2KN22, Q30201, Q5RD09, Q63678

Diamond homologs: A0A0A0MT76, A0A5B9, A0M8Q6, B9A064, P01834, P01835, P01836, P01837, P01838, P01839, P01840, P01841, P01843, P01844, P01845, P01846, P01847, P01850, P01851, P01852, P01854, P01855, P01857, P01859, P01860, P01861, P01862, P01863, P01865, P01867, P01868, P01869, P01870, P01871, P01872, P01874, P01915, P03984, P03988, P04221

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
“RFX complex”	“up-regulates quantity by expression”	HLA-DQB2	“transcriptional regulation”

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

913 predictions. Top by Δscore:

Variant	Effect	Δscore
6:32757767:CCTCA:C	donor_loss	1.0000
6:32757768:CTCAC:C	donor_loss	1.0000
6:32757769:TCACC:T	donor_loss	1.0000
6:32757770:CAC:C	donor_loss	1.0000
6:32757771:ACCT:A	donor_loss	1.0000
6:32758848:A:AC	donor_gain	1.0000
6:32758849:C:CC	donor_gain	1.0000
6:32758849:CG:C	donor_gain	1.0000
6:32758849:CGCCA:C	donor_gain	1.0000
6:32758856:C:CA	donor_gain	1.0000
6:32759132:C:CC	acceptor_gain	1.0000
6:32761654:GCTCA:G	donor_loss	1.0000
6:32761655:CTCA:C	donor_loss	1.0000
6:32761656:TCA:T	donor_loss	1.0000
6:32761657:CA:C	donor_loss	1.0000
6:32761658:ACCTT:A	donor_loss	1.0000
6:32761923:TCCT:T	acceptor_gain	1.0000
6:32761924:CCTC:C	acceptor_gain	1.0000
6:32761925:CT:C	acceptor_gain	1.0000
6:32761927:C:CC	acceptor_gain	1.0000
6:32763370:TTACT:T	donor_loss	1.0000
6:32763371:TACTG:T	donor_loss	1.0000
6:32763372:A:AC	donor_gain	1.0000
6:32763372:ACTGG:A	donor_loss	1.0000
6:32763373:C:CG	donor_gain	1.0000
6:32757772:CCTTT:C	donor_gain	0.9900
6:32757881:CCC:C	acceptor_gain	0.9900
6:32757882:CCC:C	acceptor_gain	0.9900
6:32757884:C:CC	acceptor_gain	0.9900
6:32758843:C:A	donor_gain	0.9900

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000191883 (6:32763728 C>T), RS1000318635 (6:32755838 G>A), RS1001377558 (6:32763583 T>A,C), RS1002065158 (6:32756969 G>A,C), RS1002382327 (6:32762082 T>C), RS1002414837 (6:32761941 G>A,C,T), RS1002416790 (6:32761527 T>TCCCCG), RS1002909582 (6:32759454 T>C), RS1003104615 (6:32765005 G>T), RS1003325786 (6:32758506 C>T), RS1003928038 (6:32758165 T>G), RS1004031412 (6:32763928 T>C,G), RS1004063904 (6:32758457 A>C), RS1004780791 (6:32763093 A>G), RS1005143378 (6:32763076 C>T)

Disease associations

OMIM: gene MIM:615161 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

50 associations (top):

Study	Trait	p-value
GCST001455_2	Kawasaki disease	5.000000e-11
GCST001826_1	Lymphoma	5.000000e-06
GCST001826_5	Lymphoma	2.000000e-09
GCST001848_158	IgG glycosylation	4.000000e-08
GCST001848_627	IgG glycosylation	2.000000e-08
GCST002246_1	Hepatitis B	5.000000e-37
GCST002490_2	Chronic hepatitis B infection	7.000000e-15
GCST002490_5	Chronic hepatitis B infection	1.000000e-12
GCST002879_8	Chronic hepatitis B infection	1.000000e-60
GCST003615_4	Persistent hepatitis B virus infection	6.000000e-06
GCST004131_25	Inflammatory bowel disease	2.000000e-31
GCST004133_79	Ulcerative colitis	5.000000e-65
GCST004521_126	Autism spectrum disorder or schizophrenia	2.000000e-10
GCST004521_170	Autism spectrum disorder or schizophrenia	4.000000e-14
GCST004521_174	Autism spectrum disorder or schizophrenia	4.000000e-13
GCST004521_226	Autism spectrum disorder or schizophrenia	4.000000e-12
GCST004521_266	Autism spectrum disorder or schizophrenia	7.000000e-14
GCST004521_271	Autism spectrum disorder or schizophrenia	7.000000e-10
GCST004521_296	Autism spectrum disorder or schizophrenia	6.000000e-18
GCST004521_81	Autism spectrum disorder or schizophrenia	1.000000e-14
GCST004748_116	Lung cancer	1.000000e-11
GCST004750_63	Squamous cell lung carcinoma	2.000000e-10
GCST004865_33	Itch intensity from mosquito bite adjusted by bite size	6.000000e-09
GCST005024_55	Pursuit maintenance gain	2.000000e-06
GCST006190_18	Diastolic blood pressure x smoking status (ever vs never) interaction (2df test)	7.000000e-06
GCST006190_59	Diastolic blood pressure x smoking status (ever vs never) interaction (2df test)	1.000000e-09
GCST006193_88	Diastolic blood pressure x smoking status (current vs non-current) interaction (2df test)	5.000000e-08
GCST007564_33	Asthma or allergic disease (pleiotropy)	8.000000e-35
GCST008916_16	Asthma	3.000000e-17
GCST008916_27	Asthma	5.000000e-31

EFO canonical traits (10, from GWAS)

EFO ID	Trait name
EFO:0005193	serum IgG glycosylation measurement
EFO:0008377	mosquito bite reaction itch intensity measurement
EFO:0008378	mosquito bite reaction size measurement
EFO:0008433	pursuit maintenance gain measurement
EFO:0006336	diastolic blood pressure
EFO:0006527	smoking status measurement
EFO:0006927	severe aplastic anemia
EFO:0008039	BMI-adjusted hip circumference
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0007789	BMI-adjusted waist circumference

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

14 total (human), top 14 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Diethylhexyl Phthalate	increases abundance, increases methylation, increases expression	2
bisphenol A	affects cotreatment, decreases methylation	1
mono-(2-ethylhexyl)phthalate	increases abundance, increases methylation	1
nickel chloride	increases expression, affects cotreatment	1
CGP 52608	affects binding, increases reaction	1
bisphenol S	affects methylation	1
Fulvestrant	decreases methylation, affects cotreatment	1
Benzalkonium Compounds	affects response to substance	1
Benzo(a)pyrene	affects methylation	1
Metolazone	affects expression	1
Nicotine	affects cotreatment, increases expression	1
Isotretinoin	increases expression	1
Aflatoxin B1	increases expression	1
Antirheumatic Agents	decreases expression	1

Clinical trials (associated diseases)

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