HLA-DMB

Summary

HLA-DMB (major histocompatibility complex, class II, DM beta, HGNC:4935) is a protein-coding gene on chromosome 6p21.32, encoding HLA class II histocompatibility antigen, DM beta chain (P28068). Plays a critical role in catalyzing the release of class II-associated invariant chain peptide (CLIP) from newly synthesized MHC class II molecules and freeing the peptide binding site for acquisition of antigenic peptides.

HLA-DMB belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DMA) and a beta (DMB) chain, both anchored in the membrane. It is located in intracellular vesicles. DM plays a central role in the peptide loading of MHC class II molecules by helping to release the CLIP (class II-associated invariant chain peptide) molecule from the peptide binding site. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and its gene contains 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail.

Source: NCBI Gene 3109 — RefSeq curated summary.

At a glance

• GWAS associations: 16
• Clinical variants (ClinVar): 17 total
• MANE Select transcript: NM_002118

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:4935
Approved symbol	HLA-DMB
Name	major histocompatibility complex, class II, DM beta
Location	6p21.32
Locus type	gene with protein product
Status	Approved
Aliases	D6S221E, RING7
Ensembl gene	ENSG00000242574
Ensembl biotype	protein_coding
OMIM	142856
Entrez	3109

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 7 protein_coding, 3 retained_intron

ENST00000414017, ENST00000418107, ENST00000438510, ENST00000477537, ENST00000487996, ENST00000498020, ENST00000863463, ENST00000863464, ENST00000863465, ENST00000863466

RefSeq mRNA: 1 — MANE Select: NM_002118 NM_002118

CCDS: CCDS4760

Canonical transcript exons

ENST00000383231 — 0 exons

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 99.03.

FANTOM5 (CAGE): breadth broad, TPM avg 25.1900 / max 917.8913, expressed in 640 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
73044	15.4066	617
73043	9.1973	439
73042	0.5651	166
203960	0.0211	10

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
monocyte	CL:0000576	99.03	gold quality
leukocyte	CL:0000738	99.02	gold quality
granulocyte	CL:0000094	98.91	gold quality
lymph node	UBERON:0000029	98.85	gold quality
vermiform appendix	UBERON:0001154	98.40	gold quality
spleen	UBERON:0002106	98.12	gold quality
duodenum	UBERON:0002114	97.49	gold quality
gall bladder	UBERON:0002110	97.23	gold quality
right lung	UBERON:0002167	95.51	gold quality
small intestine Peyer’s patch	UBERON:0003454	95.27	gold quality
upper lobe of left lung	UBERON:0008952	95.03	gold quality
rectum	UBERON:0001052	94.82	gold quality
small intestine	UBERON:0002108	94.42	gold quality
blood	UBERON:0000178	94.35	gold quality
right coronary artery	UBERON:0001625	94.24	gold quality
left lobe of thyroid gland	UBERON:0001120	93.43	gold quality
right lobe of thyroid gland	UBERON:0001119	93.25	gold quality
thyroid gland	UBERON:0002046	93.13	gold quality
smooth muscle tissue	UBERON:0001135	92.71	gold quality
subcutaneous adipose tissue	UBERON:0002190	92.53	gold quality
placenta	UBERON:0001987	92.41	gold quality
lung	UBERON:0002048	91.96	gold quality
left adrenal gland cortex	UBERON:0035825	91.85	gold quality
metanephros cortex	UBERON:0010533	91.64	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	91.61	gold quality
right adrenal gland	UBERON:0001233	91.51	gold quality
tibial nerve	UBERON:0001323	91.11	gold quality
adipose tissue	UBERON:0001013	91.02	gold quality
left adrenal gland	UBERON:0001234	91.02	gold quality
fallopian tube	UBERON:0003889	90.80	gold quality

Single-cell (SCXA)

Detected in 10 experiment(s), a significant marker in 9.

Experiment	Marker?	Max mean expression
E-GEOD-81383	yes	220.28
E-HCAD-4	yes	136.45
E-MTAB-6701	yes	62.70
E-HCAD-1	yes	57.42
E-HCAD-31	yes	51.93
E-CURD-88	yes	49.50
E-MTAB-10287	yes	29.28
E-MTAB-9467	yes	27.83
E-ANND-3	yes	19.51
E-MTAB-7381	no	435.28

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CIITA, RFX1, RFX5, RFXANK, RFXAP, STAT1

miRNA regulators (miRDB)

18 targeting HLA-DMB, 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-432-3P	100.00	67.86	705
HSA-MIR-6798-5P	100.00	65.77	699
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-4639-5P	99.81	67.37	1028
HSA-MIR-183-5P	99.31	72.27	1164
HSA-MIR-3614-5P	99.30	65.25	837
HSA-MIR-146A-3P	99.13	68.99	1881
HSA-MIR-320A-5P	98.88	66.75	1248
HSA-MIR-513B-3P	98.76	68.12	1577
HSA-MIR-6840-3P	98.68	65.95	1923
HSA-MIR-6852-3P	98.54	67.60	1468
HSA-MIR-204-3P	97.80	66.84	1656
HSA-MIR-4646-5P	97.70	66.84	1692
HSA-MIR-3190-3P	97.61	66.95	1406
HSA-MIR-3909	97.55	66.78	887
HSA-MIR-4661-3P	96.81	66.02	342
HSA-MIR-4764-3P	96.81	67.94	580
HSA-MIR-5588-3P	94.96	65.59	500

Literature-anchored findings (GeneRIF, showing 14)

• HLA DMA and DMB show no association with rheumatoid arthritis in US Caucasians. (PMID:11881821)
• HLA-DMB may play an important role in pathogenesis of type 1 diabetes, and clinical status heterogeneity of type 1 diabetes may be related to genetic mechanism. (PMID:14754527)
• glycosylation promotes, but is not essential for, DMalphabeta ER exit; single DMalpha chains cannot fully oxidize without DMbeta, while DMbeta forms disulfide-linked homodimers without DMalpha (PMID:17015729)
• findings suggest HLA-DM expression in antigen presenting cells controls class II-mediated type II collagen(261-273) peptide/epitope presentation & regulates CD4+ T cell responses to this self epitope, potentially influencing CII-dependent autoimmunity (PMID:18506881)
• Tumor cell expression of HLA-DMB is associated with increased numbers of tumor-infiltrating CD8 T lymphocytes and both are associated with improved survival in advanced-stage serous ovarian cancer. (PMID:19047092)
• No individual component of conserved HLA-DM hydrogen bond network demonstrates an essential role in the DM catalytic mechanism. Catalytic potency of HLA-DM with each beta-chain mutant was equal to or greater than that observed with wild-type HLA-DR1. (PMID:19767569)
• HLA-DM mediates a noncooperative release of prebound influenza virus hemagglutinin peptides from wild-type HLA-DR1 by destabilizing the beta81 hydrogen (H-)bond, since a similar phenomenon is observed when this H-bond is absent. (PMID:20038641)
• Multiple mechanisms, operating along the biosynthetic pathway of class II molecules, contribute to DM-mediated increases in the abundance of low-CLIP-affinity alleles. (PMID:20408893)
• Overexpression of HLA-DM at the plasma membrane of dendritic cells improves quantitatively, but also qualitatively, the presentation of CD4-expressing T cell epitopes in cellular vaccine therapies for cancer. (PMID:21622867)
• DMA*01:01 (69.35%) and DMB*01:01 (52.5%) alleles were more frequent in Chinese Hans (PMID:22309257)
• The structure of the HLA-DM-HLA-DR complex shows major rearrangements of the HLA-DR peptide-binding groove. (PMID:23260142)
• Data suggest that antigen processing by MHC class II HLA-DMB antigen is a target pathway in the pathogenesis of HIV-related Kaposi’s sarcoma. (PMID:25008864)
• This study provides novel insights into how HLA-DM efficiently catalyzes peptide loading during antigen presentation. (PMID:26062997)
• HLA-DMB alleles and haplotypes in Ecuador (Cuenca) Amerindians: Importance for HLA and disease studies. (PMID:36870854)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
mus_musculus	H2-DMb2	ENSMUSG00000037548
mus_musculus	H2-DMb1	ENSMUSG00000079547
rattus_norvegicus	RT1-DMb	ENSRNOG00000049491

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

Protein

Protein identifiers

HLA class II histocompatibility antigen, DM beta chain — P28068 (reviewed: P28068)

Alternative names: MHC class II antigen DMB, Really interesting new gene 7 protein

All UniProt accessions (4): A0A1V0E3P2, P28068, H0Y4B8, H0Y7A2

UniProt curated annotations — full annotation on UniProt →

Function. Plays a critical role in catalyzing the release of class II-associated invariant chain peptide (CLIP) from newly synthesized MHC class II molecules and freeing the peptide binding site for acquisition of antigenic peptides. In B-cells, the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO.

Subunit / interactions. Heterodimer of an alpha chain (DMA) and a beta chain (DMB). Interacts with MHCII; this interaction mediates rapid selection of high-affinity peptides in a pH-dependent manner, with an optimum at pH 5.5.

Subcellular location. Late endosome membrane. Lysosome membrane.

Domain organisation. The YXXZ (Tyr-Xaa-Xaa-Zaa, where Zaa is a hydrophobic residue) motif mediates the targeting to the lysosomal compartments.

Polymorphism. The following alleles of DMB are known: DMB01:01, DMB01:02, DMB01:03, DMB01:04 (DMB3.4), DMB01:05, DMB01:06, and DMB01:07. The sequence shown is that of DMB01:03.

Similarity. Belongs to the MHC class II family.

RefSeq proteins (1): NP_002109* (*=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 (51 total): strand 15, mutagenesis site 10, sequence variant 7, helix 4, disulfide bond 3, region of interest 3, topological domain 2, signal peptide 1, chain 1, glycosylation site 1, transmembrane region 1, turn 1, domain 1, short sequence motif 1

Structure

Experimental structures (PDB)

5 structures.

PDB	Method	Resolution (Å)
2BC4	X-RAY DIFFRACTION	2.27
1HDM	X-RAY DIFFRACTION	2.5
4FQX	X-RAY DIFFRACTION	2.6
4GBX	X-RAY DIFFRACTION	3
4I0P	X-RAY DIFFRACTION	3.2

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P28068-F1	89.50	0.76

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 (3): 29–97, 43–53, 135–192

Glycosylation sites (1): 110

Mutagenesis-validated functional residues (10):

Position	Phenotype
26	decreases the interaction with mhcii and peptide exchange.
49	decreases the interaction with mhcii and peptide exchange.
49	increases the interaction with mhcii and peptide exchange; when associated with q-65.
65	increases the interaction with mhcii and peptide exchange; when associated with n-49.
65	decreases the interaction with mhcii and peptide exchange.
69	decreases the interaction with mhcii and peptide exchange.
73	decreases the interaction with mhcii and peptide exchange.
128	decreases the interaction with mhcii and peptide exchange.
248	abolishes targeting to endosomes and results in relocalization to the cell membrane.
251	abolishes targeting to endosomes and results in relocalization to the cell membrane.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

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

MSigDB gene sets: 316 (showing top): GOBP_REGULATION_OF_CELL_ACTIVATION, GOBP_REGULATION_OF_LEUKOCYTE_PROLIFERATION, GOBP_ANTIGEN_PROCESSING_AND_PRESENTATION_OF_PEPTIDE_OR_POLYSACCHARIDE_ANTIGEN_VIA_MHC_CLASS_II, MCLACHLAN_DENTAL_CARIES_UP, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, GOCC_VACUOLAR_MEMBRANE, GOBP_T_CELL_ACTIVATION_INVOLVED_IN_IMMUNE_RESPONSE, MODULE_64, KOINUMA_COLON_CANCER_MSI_UP, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, MORI_IMMATURE_B_LYMPHOCYTE_UP, GAURNIER_PSMD4_TARGETS, GOBP_ANTIGEN_PROCESSING_AND_PRESENTATION_OF_PEPTIDE_ANTIGEN, GNF2_LYN, WIELAND_UP_BY_HBV_INFECTION

GO Biological Process (12): adaptive immune response (GO:0002250), MHC class II protein complex assembly (GO:0002399), peptide antigen assembly with MHC class II protein complex (GO:0002503), antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886), positive regulation of T cell proliferation (GO:0042102), positive regulation of immune response (GO:0050778), positive regulation of T cell activation (GO:0050870), positive regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001190), 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 (3): MHC class II protein complex binding (GO:0023026), peptide antigen binding (GO:0042605), protein binding (GO:0005515)

GO Cellular Component (6): lysosomal membrane (GO:0005765), late endosome membrane (GO:0031902), MHC class II protein complex (GO:0042613), lysosome (GO:0005764), endosome (GO:0005768), 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
immune response	2
antigen processing and presentation of peptide antigen via MHC class II	2
positive regulation of T cell activation	2
immune system process	2
MHC protein complex assembly	1
MHC class II protein complex assembly	1
peptide antigen assembly with MHC protein complex	1
antigen processing and presentation of exogenous peptide antigen	1
T cell proliferation	1
regulation of T cell proliferation	1
positive regulation of lymphocyte proliferation	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
T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	1
positive regulation of immune effector process	1
positive regulation of immune response	1
regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	1
biological_process	1
antigen processing and presentation	1
response to stimulus	1
MHC protein complex binding	1
antigen binding	1
peptide binding	1
binding	1
lysosome	1
lytic vacuole membrane	1
late endosome	1
endosome membrane	1
MHC protein complex	1
lytic vacuole	1
endomembrane system	1
cytoplasmic vesicle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1710 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
HLA-DMB	HLA-DMA	P28067	995
HLA-DMB	CD74	P04233	544
HLA-DMB	HLA-B	P01889	538
HLA-DMB	HLA-DRA	P01903	526
HLA-DMB	HLA-DQA2	P01906	515
HLA-DMB	HLA-DQB1	P01917	491
HLA-DMB	HLA-C	P04222	479
HLA-DMB	IFNG	P01579	477
HLA-DMB	HLA-DOB	P13765	465
HLA-DMB	Q5Y7H0	Q5Y7H0	451
HLA-DMB	PSMB9	P28065	447
HLA-DMB	TAPBP	O15533	446
HLA-DMB	PSMB8	P28062	430
HLA-DMB	CIITA	P33076	417
HLA-DMB	XCL1	P47992	403

IntAct

41 interactions, top by confidence:

A	B	Type	Score
HLA-DRA	HLA-DRB1	psi-mi:“MI:0914”(association)	0.880
HLA-DMB	HLA-DMA	psi-mi:“MI:0407”(direct interaction)	0.820
HLA-DMB	HLA-DMA	psi-mi:“MI:0915”(physical association)	0.820
HLA-DMA	HLA-DRA	psi-mi:“MI:0914”(association)	0.620
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
HLA-DMB	AP3M1	psi-mi:“MI:0915”(physical association)	0.560
TCTN2	TPST2	psi-mi:“MI:0914”(association)	0.530
HLA-DMB	PHOSPHO1	psi-mi:“MI:0915”(physical association)	0.400
HLA-DRB1		psi-mi:“MI:0915”(physical association)	0.400
MDM2	HLA-DMB	psi-mi:“MI:0915”(physical association)	0.370
HLA-DMB	TEAD1	psi-mi:“MI:0915”(physical association)	0.370
HLA-DMB	CUL3	psi-mi:“MI:0915”(physical association)	0.370
rep	GPR89A	psi-mi:“MI:0914”(association)	0.350
HLA-DMA	HLA-DRB1	psi-mi:“MI:0914”(association)	0.350

BioGRID (71): HLA-DMB (Affinity Capture-MS), DHRS7 (Affinity Capture-MS), AP3M1 (Affinity Capture-MS), PHOSPHO1 (Affinity Capture-MS), HLA-DMB (Affinity Capture-MS), HLA-DMB (Affinity Capture-MS), AP3M1 (Affinity Capture-MS), HLA-DMB (Affinity Capture-Western), PSEN2 (FRET), HLA-DMB (Affinity Capture-MS), HLA-DMB (Affinity Capture-Western), HLA-DMB (Affinity Capture-Western), PHOSPHO1 (Affinity Capture-MS), HLA-DMB (Affinity Capture-MS), HLA-DMB (Affinity Capture-MS)

ESM2 similar proteins: P01889, P01893, P01894, P01895, P01896, P01897, P01899, P01900, P01901, P01902, P03991, P04223, P04439, P06140, P06339, P10321, P13747, P13748, P13749, P13750, P13751, P13752, P13753, P14426, P14427, P14428, P16209, P16210, P16211, P16212, P16215, P28068, P30375, P30376, P30377, P30378, P30379, P30380, P30381, P30382

Diamond homologs: C1ITJ8, O19477, O35799, P01888, P01889, P01893, P01894, P01895, P01896, P01897, P01898, P01899, P01900, P01901, P01902, P03991, P04223, P04439, P06126, P06140, P06339, P10321, P13747, P13748, P13749, P13750, P13751, P13752, P13753, P13765, P14426, P14427, P14428, P14429, P14430, P14431, P14432, P15464, P15978, P15979

SIGNOR signaling

4 interactions.

A	Effect	B	Mechanism
CIITA	“up-regulates quantity by expression”	HLA-DMB	“transcriptional regulation”
“RFX complex”	“up-regulates quantity by expression”	HLA-DMB	“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	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1173 predictions. Top by Δscore:

Variant	Effect	Δscore
6:32935534:A:AC	donor_gain	1.0000
6:32935535:C:CC	donor_gain	1.0000
6:32937170:A:AC	donor_gain	1.0000
6:32937170:ACT:A	donor_gain	1.0000
6:32937171:C:CC	donor_gain	1.0000
6:32937171:CT:C	donor_gain	1.0000
6:32937171:CTC:C	donor_gain	1.0000
6:32937277:T:TA	donor_gain	1.0000
6:32937311:A:AC	donor_gain	1.0000
6:32937312:C:CC	donor_gain	1.0000
6:32937312:CTG:C	donor_gain	1.0000
6:32937334:T:TA	donor_gain	1.0000
6:32937335:C:A	donor_gain	1.0000
6:32937343:T:TA	donor_gain	1.0000
6:32938650:T:TA	donor_gain	1.0000
6:32938677:T:A	donor_gain	1.0000
6:32938844:ATTCT:A	donor_gain	1.0000
6:32938976:C:CT	acceptor_gain	1.0000
6:32938976:C:T	acceptor_gain	1.0000
6:32935535:CT:C	donor_gain	0.9900
6:32937170:ACTC:A	donor_gain	0.9900
6:32937171:CTCC:C	donor_gain	0.9900
6:32937457:C:CC	acceptor_gain	0.9900
6:32938682:A:AC	donor_gain	0.9900
6:32938683:C:CC	donor_gain	0.9900
6:32938687:T:TA	donor_gain	0.9900
6:32938844:A:AC	donor_gain	0.9900
6:32938848:T:TA	donor_gain	0.9900
6:32938962:CCAC:C	acceptor_gain	0.9900
6:32938963:CAC:C	acceptor_gain	0.9900

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000032892 (6:32942435 A>T), RS1000382742 (6:32942727 G>A,C), RS1000987928 (6:32941260 C>T), RS1001033728 (6:32938509 G>A,T), RS1001205168 (6:32942087 C>A), RS1001436966 (6:32940995 T>C), RS1001466428 (6:32938821 C>G), RS1001702667 (6:32941645 A>G), RS1001720348 (6:32934968 C>T), RS1001756411 (6:32934311 C>T), RS1001787626 (6:32934822 T>C), RS1002132410 (6:32941909 G>A), RS1002222138 (6:32942321 T>G), RS1002820496 (6:32940900 G>A), RS1003438842 (6:32936067 C>T)

Disease associations

OMIM: gene MIM:142856 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

16 associations (top):

Study	Trait	p-value
GCST003522_1	Dermatomyositis	1.000000e-09
GCST003522_4	Dermatomyositis	3.000000e-10
GCST004521_170	Autism spectrum disorder or schizophrenia	4.000000e-14
GCST004748_117	Lung cancer	2.000000e-07
GCST004750_64	Squamous cell lung carcinoma	3.000000e-07
GCST005541_25	Sarcoidosis (Lofgren’s syndrome vs non-Lofgren’s syndrome)	6.000000e-23
GCST005542_4	Sarcoidosis (non-Lofgren’s syndrome without extrapulmonary manifestations)	2.000000e-06
GCST005790_66	Rosacea symptom severity	2.000000e-15
GCST007201_155	Schizophrenia	5.000000e-12
GCST008916_27	Asthma	5.000000e-31
GCST008916_90	Asthma	4.000000e-15
GCST012228_260	Waist-hip index	2.000000e-10
GCST012230_450	Waist-to-hip ratio adjusted for BMI	3.000000e-11
GCST90020024_1111	A body shape index	2.000000e-13
GCST90020025_707	Waist-to-hip ratio adjusted for BMI	6.000000e-13
GCST90020027_1077	Waist-hip index	7.000000e-12

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0009180	rosacea severity measurement
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

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

Chemical	Actions (top 5)	PubMed papers
Tobacco Smoke Pollution	decreases expression, decreases methylation, increases expression, affects expression	4
mercuric bromide	decreases expression, affects cotreatment	2
belinostat	decreases expression, affects cotreatment	2
Benzene	decreases expression	2
Cisplatin	affects cotreatment, increases expression, affects expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Valproic Acid	increases expression	2
GSK-J4	decreases expression	1
tungsten carbide	affects binding, decreases expression	1
ethyl-p-hydroxybenzoate	decreases expression	1
cobaltous chloride	decreases expression	1
tamibarotene	increases expression	1
di-n-butylphosphoric acid	affects expression	1
entinostat	increases expression	1
valdecoxib	affects expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
jinfukang	increases expression, affects cotreatment	1
gardiquimod	decreases expression, decreases reaction	1
3-hydroxy-4-prenyl-5-methoxystilbene-2-carboxylic acid	decreases expression	1
3-(2-hydroxy-4-(2-methylnonan-2-yl)phenyl)cyclohexan-1-ol	increases expression	1
Bortezomib	decreases expression	1
Temozolomide	decreases expression	1
Zoledronic Acid	increases expression	1
Topiramate	affects expression	1
Panobinostat	affects cotreatment, affects expression	1
Acetaminophen	increases expression	1
Arsenic	affects methylation	1
Benzo(a)pyrene	decreases methylation, increases methylation	1

Cellosaurus cell lines

2 cell lines: 2 hybrid cell line

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

Cellosaurus	Name	Category	Sex
CVCL_9W16	T2.DR4/DM	Hybrid cell line
CVCL_9W18	T2.DR3/DM	Hybrid cell line

Clinical trials (associated diseases)

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