HLA-DOB
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Summary
HLA-DOB (major histocompatibility complex, class II, DO beta, HGNC:4937) is a protein-coding gene on chromosome 6p21.32, encoding HLA class II histocompatibility antigen, DO beta chain (P13765). Important modulator in the HLA class II restricted antigen presentation pathway by interaction with the HLA-DM molecule in B-cells.
HLA-DOB belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DOA) and a beta chain (DOB), both anchored in the membrane. It is located in intracellular vesicles. DO suppresses peptide loading of MHC class II molecules by inhibiting HLA-DM. 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 3112 — RefSeq curated summary.
At a glance
- GWAS associations: 28
- Clinical variants (ClinVar): 6 total
- MANE Select transcript:
NM_002120
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:4937 |
| Approved symbol | HLA-DOB |
| Name | major histocompatibility complex, class II, DO beta |
| Location | 6p21.32 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000241106 |
| Ensembl biotype | protein_coding |
| OMIM | 600629 |
| Entrez | 3112 |
Gene structure
Transcript identifiers
Ensembl transcripts: 7 — 5 protein_coding, 1 retained_intron, 1 nonsense_mediated_decay
ENST00000438763, ENST00000447394, ENST00000475235, ENST00000488325, ENST00000648009, ENST00000900286, ENST00000944925
RefSeq mRNA: 1 — MANE Select: NM_002120
NM_002120
CCDS: CCDS4754
Canonical transcript exons
ENST00000426644 — 0 exons
Expression profiles
Bgee: expression breadth ubiquitous, 128 present calls, max score 96.70.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 2.7222 / max 515.6970, expressed in 144 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 73015 | 2.6799 | 137 |
| 73016 | 0.0297 | 12 |
| 73017 | 0.0127 | 6 |
Top tissues by expression
136 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| lymph node | UBERON:0000029 | 96.70 | gold quality |
| spleen | UBERON:0002106 | 94.35 | gold quality |
| vermiform appendix | UBERON:0001154 | 91.45 | gold quality |
| granulocyte | CL:0000094 | 90.93 | gold quality |
| bone marrow cell | CL:0002092 | 87.49 | gold quality |
| blood | UBERON:0000178 | 84.78 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 83.23 | gold quality |
| bone marrow | UBERON:0002371 | 82.51 | gold quality |
| tonsil | UBERON:0002372 | 81.93 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 80.76 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 80.39 | gold quality |
| leukocyte | CL:0000738 | 79.66 | gold quality |
| monocyte | CL:0000576 | 78.49 | gold quality |
| small intestine | UBERON:0002108 | 78.31 | gold quality |
| rectum | UBERON:0001052 | 78.18 | gold quality |
| endometrium | UBERON:0001295 | 78.04 | gold quality |
| gall bladder | UBERON:0002110 | 74.64 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 74.30 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 74.27 | gold quality |
| minor salivary gland | UBERON:0001830 | 74.24 | gold quality |
| duodenum | UBERON:0002114 | 72.78 | gold quality |
| right lung | UBERON:0002167 | 72.45 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 72.32 | gold quality |
| adenohypophysis | UBERON:0002196 | 71.48 | gold quality |
| esophagus mucosa | UBERON:0002469 | 71.20 | gold quality |
| skin of leg | UBERON:0001511 | 70.39 | gold quality |
| zone of skin | UBERON:0000014 | 70.36 | gold quality |
| skin of abdomen | UBERON:0001416 | 70.29 | gold quality |
| pituitary gland | UBERON:0000007 | 69.99 | gold quality |
| quadriceps femoris | UBERON:0001377 | 69.42 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-8142 | yes | 68.21 |
| E-ANND-3 | yes | 14.34 |
| E-MTAB-6678 | yes | 8.67 |
| E-MTAB-8410 | no | 0.94 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): CIITA, CREB1, POU2F2, RFX1, RFX5, RFXANK, RFXAP
miRNA regulators (miRDB)
64 targeting HLA-DOB, 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-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-185-3P | 99.95 | 67.01 | 1743 |
| HSA-MIR-548AB | 99.95 | 71.31 | 3488 |
| HSA-MIR-559 | 99.95 | 72.28 | 3609 |
| HSA-MIR-548I | 99.94 | 71.25 | 3481 |
| HSA-MIR-548A-5P | 99.94 | 71.27 | 3482 |
| HSA-MIR-548AD-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AE-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AK | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AM-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AP-5P | 99.94 | 71.14 | 3489 |
| HSA-MIR-548AQ-5P | 99.94 | 71.34 | 3426 |
| HSA-MIR-548AR-5P | 99.94 | 71.28 | 3515 |
| HSA-MIR-548AS-5P | 99.94 | 71.22 | 3482 |
| HSA-MIR-548AU-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AY-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548B-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548BB-5P | 99.94 | 71.27 | 3509 |
| HSA-MIR-548C-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548D-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548H-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548J-5P | 99.94 | 71.14 | 3489 |
| HSA-MIR-548O-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548W | 99.94 | 71.24 | 3488 |
| HSA-MIR-548Y | 99.94 | 71.28 | 3514 |
| HSA-MIR-589-3P | 99.91 | 69.62 | 2088 |
| HSA-MIR-4496 | 99.88 | 68.89 | 2236 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-6857-5P | 99.87 | 65.32 | 985 |
Literature-anchored findings (GeneRIF, showing 9)
- HLA-DOB 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)
- A new DOB allele, DOB*010103, was identified in the Korean population during sequence-based HLA-DOB typing. (PMID:15730525)
- 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-DO beta-chain antigens are ubiquitinated by MARCH family E3 ligases 1, 8, and 9. (PMID:23400868)
- 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)
- results indicate that HLA-DOB is co-inherited with DQA2-B2 genes and thus may contribute to HCV and HBV persistence (PMID:28813660)
- MUC22, HLA-A, and HLA-DOB variants and COVID-19 in resilient super-agers from Brazil. (PMID:36389712)
- Potential role of SNP rs2071475 in rheumatoid arthritis and inflammatory bowel disease in the East Asian population: a Mendelian randomization study. (PMID:37855981)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | H2-Ob | ENSMUSG00000041538 |
| rattus_norvegicus | RT1-DOb | ENSRNOG00000000454 |
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-DMB (ENSG00000242574)
Protein
Protein identifiers
HLA class II histocompatibility antigen, DO beta chain — P13765 (reviewed: P13765)
Alternative names: MHC class II antigen DOB
All UniProt accessions (4): E9PI00, P13765, H0Y4X4, Q5QNS2
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 DOB are known: DOB01:01, DOB01:02, DOB01:03 and DOB01:04. The sequence shown is that of DOB*01:01.
Similarity. Belongs to the MHC class II family.
RefSeq proteins (1): NP_002111* (*=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 (36 total): strand 12, helix 5, sequence variant 4, turn 3, region of interest 3, disulfide bond 2, topological domain 2, signal peptide 1, chain 1, transmembrane region 1, domain 1, glycosylation site 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-P13765-F1 | 87.44 | 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 (2): 41–105, 143–199
Glycosylation sites (1): 45
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, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, GOCC_VACUOLAR_MEMBRANE, GOBP_REGULATION_OF_ANTIGEN_PROCESSING_AND_PRESENTATION_OF_PEPTIDE_ANTIGEN, GOBP_ANTIGEN_PROCESSING_AND_PRESENTATION_OF_PEPTIDE_ANTIGEN, MODULE_143, GOBP_POSITIVE_REGULATION_OF_CELL_ADHESION, GOBP_CELL_CELL_ADHESION, KEGG_VIRAL_MYOCARDITIS, GOBP_REGULATION_OF_IMMUNE_RESPONSE, KEGG_TYPE_I_DIABETES_MELLITUS, GOBP_REGULATION_OF_ANTIGEN_PROCESSING_AND_PRESENTATION, GOBP_ANTIGEN_PROCESSING_AND_PRESENTATION, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM5
GO Biological Process (10): 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), 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 (3): MHC class II protein complex binding (GO:0023026), MHC class II receptor activity (GO:0032395), peptide antigen binding (GO:0042605)
GO Cellular Component (7): lysosome (GO:0005764), lysosomal membrane (GO:0005765), late endosome membrane (GO:0031902), MHC class II protein complex (GO:0042613), 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 |
| 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 |
| 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 |
| 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 |
| lytic vacuole | 1 |
| lysosome | 1 |
| lytic vacuole membrane | 1 |
| late endosome | 1 |
| endosome membrane | 1 |
| MHC protein complex | 1 |
| endomembrane system | 1 |
| cytoplasmic vesicle | 1 |
| endosome | 1 |
| cytoplasmic vesicle membrane | 1 |
| bounding membrane of organelle | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1572 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| HLA-DOB | PSMB9 | P28065 | 839 |
| HLA-DOB | HLA-DMA | P28067 | 835 |
| HLA-DOB | PSMB8 | P28062 | 832 |
| HLA-DOB | HLA-B | P01889 | 549 |
| HLA-DOB | HLA-DQA2 | P01906 | 527 |
| HLA-DOB | HLA-C | P04222 | 501 |
| HLA-DOB | HLA-DOA | P06340 | 486 |
| HLA-DOB | TAP1 | Q03518 | 476 |
| HLA-DOB | TNF | P01375 | 473 |
| HLA-DOB | HLA-DMB | P28068 | 465 |
| HLA-DOB | RING1 | Q06587 | 460 |
| HLA-DOB | LILRB1 | Q8NHL6 | 436 |
| HLA-DOB | PBX2 | P40425 | 429 |
| HLA-DOB | BRD2 | P25440 | 426 |
| HLA-DOB | HLA-DRA | P01903 | 426 |
IntAct
7 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 |
| HLA-DOA | HLA-DOB | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| CDKN2A | HLA-DOB | psi-mi:“MI:0915”(physical association) | 0.370 |
| SLC22A14 | CLGN | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (4): HLA-DOB (Two-hybrid), HLA-DOB (Affinity Capture-Western), HLA-DOB (Affinity Capture-Western), HLA-DOB (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: 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
3 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| CIITA | “up-regulates quantity by expression” | HLA-DOB | “transcriptional regulation” |
| RFX1 | “up-regulates quantity by expression” | HLA-DOB | “transcriptional regulation” |
| “RFX complex” | “up-regulates quantity by expression” | HLA-DOB | “transcriptional regulation” |
Disease & clinical
Clinical variants and AI predictions
ClinVar
6 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
1142 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:32814318:A:AC | donor_gain | 1.0000 |
| 6:32814319:C:CC | donor_gain | 1.0000 |
| 6:32814319:CTCCA:C | donor_gain | 1.0000 |
| 6:32814602:C:CC | acceptor_gain | 1.0000 |
| 6:32816855:TCTTA:T | donor_loss | 1.0000 |
| 6:32816856:CTTA:C | donor_loss | 1.0000 |
| 6:32816856:CTTAC:C | donor_loss | 1.0000 |
| 6:32816857:TTACC:T | donor_loss | 1.0000 |
| 6:32816858:TA:T | donor_loss | 1.0000 |
| 6:32816858:TAC:T | donor_loss | 1.0000 |
| 6:32816859:A:C | donor_loss | 1.0000 |
| 6:32816859:ACC:A | donor_loss | 1.0000 |
| 6:32816860:C:G | donor_loss | 1.0000 |
| 6:32816948:CCATT:C | acceptor_gain | 1.0000 |
| 6:32816949:CATT:C | acceptor_gain | 1.0000 |
| 6:32816949:CATTC:C | acceptor_gain | 1.0000 |
| 6:32816951:TT:T | acceptor_gain | 1.0000 |
| 6:32816953:C:CC | acceptor_gain | 1.0000 |
| 6:32814318:ACT:A | donor_gain | 0.9900 |
| 6:32814319:CT:C | donor_gain | 0.9900 |
| 6:32814319:CTC:C | donor_gain | 0.9900 |
| 6:32814344:G:C | donor_gain | 0.9900 |
| 6:32814437:T:TA | donor_gain | 0.9900 |
| 6:32814598:TGCA:T | acceptor_gain | 0.9900 |
| 6:32814599:GCA:G | acceptor_gain | 0.9900 |
| 6:32814600:CA:C | acceptor_gain | 0.9900 |
| 6:32814600:CAC:C | acceptor_gain | 0.9900 |
| 6:32815039:CTCA:C | donor_loss | 0.9900 |
| 6:32815040:TCA:T | donor_loss | 0.9900 |
| 6:32815041:CA:C | donor_loss | 0.9900 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000128687 (6:32813181 T>A), RS1000928748 (6:32817209 G>A), RS1001263464 (6:32813110 G>A,C), RS1001337250 (6:32813385 C>G,T), RS1001411351 (6:32812377 G>A), RS1002209984 (6:32818667 G>A), RS1002985913 (6:32814583 A>G), RS1004645921 (6:32812331 G>C), RS1004715638 (6:32813051 A>T), RS1005390150 (6:32815815 A>G), RS1005751947 (6:32817152 A>G), RS1005914119 (6:32816468 G>A), RS1006495814 (6:32814897 G>A,C), RS1006792093 (6:32814503 T>C), RS1007072196 (6:32817294 T>C)
Disease associations
OMIM: gene MIM:600629 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
28 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001455_2 | Kawasaki disease | 5.000000e-11 |
| GCST001785_9 | Crohn’s disease | 9.000000e-59 |
| GCST004521_126 | Autism spectrum disorder or schizophrenia | 2.000000e-10 |
| GCST004521_170 | Autism spectrum disorder or schizophrenia | 4.000000e-14 |
| 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 |
| GCST004749_11 | Lung cancer in ever smokers | 1.000000e-10 |
| GCST004750_63 | Squamous cell lung carcinoma | 2.000000e-10 |
| GCST005541_24 | Sarcoidosis (Lofgren’s syndrome vs non-Lofgren’s syndrome) | 4.000000e-11 |
| GCST006575_22 | Takayasu arteritis | 2.000000e-10 |
| GCST006867_50 | Type 2 diabetes | 7.000000e-11 |
| GCST007201_152 | Schizophrenia | 4.000000e-12 |
| GCST007564_33 | Asthma or allergic disease (pleiotropy) | 8.000000e-35 |
| GCST008916_16 | Asthma | 3.000000e-17 |
| GCST008916_27 | Asthma | 5.000000e-31 |
| GCST008916_90 | Asthma | 4.000000e-15 |
| GCST008921_2 | Asthma and major depressive disorder | 3.000000e-13 |
| GCST010979_15 | Kawasaki disease | 7.000000e-13 |
| GCST011940_11 | Bullous pemphigoid | 7.000000e-06 |
| GCST012227_798 | Hip circumference adjusted for BMI | 2.000000e-10 |
| GCST012228_259 | Waist-hip index | 3.000000e-14 |
| GCST012230_444 | Waist-to-hip ratio adjusted for BMI | 1.000000e-15 |
| GCST012231_216 | A body shape index | 1.000000e-08 |
| GCST90002388_83 | Lymphocyte count | 1.000000e-11 |
| GCST90020024_1108 | A body shape index | 1.000000e-09 |
| GCST90020024_1112 | A body shape index | 3.000000e-09 |
| GCST90020028_1278 | Hip circumference adjusted for BMI | 9.000000e-09 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0008039 | BMI-adjusted hip circumference |
| EFO:0007788 | BMI-adjusted waist-hip ratio |
| EFO:0007789 | BMI-adjusted waist circumference |
| EFO:0004587 | lymphocyte count |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB variants
1 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs2071554 | HLA-DOB | 0.00 | 0 |
CTD chemical–gene interactions
14 total (human), top 14 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, decreases expression, decreases methylation | 2 |
| Nickel | increases expression | 2 |
| TL8-506 | affects cotreatment, increases expression | 1 |
| Meropenem | affects expression | 1 |
| Aldehydes | increases expression | 1 |
| Benzalkonium Compounds | affects response to substance | 1 |
| Hydralazine | affects cotreatment, increases expression | 1 |
| Poly I-C | increases expression, affects cotreatment | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Trimethoprim | affects expression | 1 |
| Valproic Acid | affects cotreatment, increases expression | 1 |
| Mifepristone | decreases expression | 1 |
| Antirheumatic Agents | decreases expression | 1 |
| Okadaic Acid | increases expression | 1 |
Cellosaurus cell lines
2 cell lines: 2 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_C5VJ | LG2 DO-KO-1 | Transformed cell line | Male |
| CVCL_C5VK | LG2 DO-KO-2 | Transformed cell line | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): bullous pemphigoid, Kawasaki disease, sarcoidosis, Takayasu arteritis