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50 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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HLA-B
major histocompatibility complex, class I, B
Chromosome 6 · 6p21.33
NCBI Gene: 3106Ensembl: ENSG00000232126.8HGNC: HGNC:4932UniProt: D9J307
2,221PubMed Papers
22Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
RESEARCH IMPACT
Highly Studied
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
TAP bindingsignaling receptor bindingprotein bindingprotein-folding chaperone bindingCOVID-19neurodegenerative diseasediffuse large B-cell lymphomaspondyloarthropathy
✦AI Summary

HLA-B is a major histocompatibility complex class I molecule that presents peptide antigens to CD8+ T cells, initiating adaptive immunity against infections and cancers 1. The protein displays peptides with characteristic motifs, such as proline at position 2 and leucine anchor residues at the C-terminus, depending on the allelic variant 2. HLA-B functions through multiple antigen-processing pathways, including TAP-dependent and TAP-independent mechanisms in the endoplasmic reticulum, and can acquire exogenous antigens in certain cell types like monocytes 2. Surface expression levels and peptide-binding stability vary significantly across HLA-B allotypes and cell types, influencing immune responsiveness 2. Clinically, HLA-B polymorphisms associate with multiple diseases: HLA-B*1502 shows strong association with carbamazepine-induced Stevens-Johnson syndrome in Han Chinese populations, enabling predictive testing 3. HLA-B*46 represents a risk factor for Graves' disease in Asian populations, with a 2.48-fold increased risk 4. These associations highlight HLA-B's critical role in both protective immunity and drug-induced immunopathology, making allele-specific testing clinically relevant for personalized medicine.

Sources cited
1
HLA-B*1502 is strongly associated with carbamazepine-induced Stevens-Johnson syndrome in Han Chinese populations
PMID: 15057820
2
HLA-B presents peptide antigens to CD8+ T cells; allelic variations affect cell surface expression, half-life, and antigen acquisition pathways
PMID: 29989547
3
HLA-B assembles with peptides in the ER and presents them on cell surface for CD8+ T cell recognition during viral infection
PMID: 29437277
4
HLA-B*46 allele is a risk factor for Graves' disease in Asian populations with OR = 2.48
PMID: 23329888
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ22
COVID-19Open Targets
0.48Moderate
neurodegenerative diseaseOpen Targets
0.48Moderate
diffuse large B-cell lymphomaOpen Targets
0.40Weak
spondyloarthropathyOpen Targets
0.38Weak
Stevens-Johnson syndromeOpen Targets
0.38Weak
head and neck squamous cell carcinomaOpen Targets
0.37Weak
esophageal cancerOpen Targets
0.35Weak
ebv-positive nodal t- and nk-cell lymphomaOpen Targets
0.33Weak
cervical squamous cell carcinomaOpen Targets
0.29Weak
lymphomaOpen Targets
0.21Weak
neuroinflammatory disorderOpen Targets
0.14Weak
Parkinson diseaseOpen Targets
0.11Weak
Behcet's syndromeOpen Targets
0.11Weak
hepatocellular carcinomaOpen Targets
0.11Weak
toxic epidermal necrolysisOpen Targets
0.10Weak
gastric cancerOpen Targets
0.10Weak
non-small cell lung carcinomaOpen Targets
0.10Weak
gliomaOpen Targets
0.09Suggestive
retinoblastomaOpen Targets
0.09Suggestive
infectionOpen Targets
0.09Suggestive
Spondyloarthropathy 1UniProt
Stevens-Johnson syndromeUniProt
Pathogenic Variants1
NM_005514.8(HLA-B):c.722G>A (p.Trp241Ter)Pathogenic
EBV-positive nodal T- and NK-cell lymphoma
☆☆☆☆→ Residue 241
View on ClinVar ↗
Related Genes
HLA-DRAProtein interaction100%HLA-DQB1Protein interaction100%HLA-DRB1Protein interaction100%HLA-DMAProtein interaction99%HLA-DPA1Protein interaction99%KIR3DL2Protein interaction99%
Tissue Expression6 tissues
Lung
100%
Bone Marrow
89%
Liver
23%
Heart
19%
Ovary
13%
Brain
7%
Gene Interaction Network
Click a node to explore
HLA-BHLA-DRAHLA-DQB1HLA-DRB1HLA-DMAHLA-DPA1KIR3DL2
PROTEIN STRUCTURE
Preparing viewer…
PDB1K5N · 1.09 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.85LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.23 [0.75–1.85]
RankingsWhere HLA-B stands among ~20K protein-coding genes
  • #46of 20,598
    Most Researched2,221 · top 1%
  • #4,592of 5,498
    Most Pathogenic Variants1
  • #16,867of 17,882
    Most Constrained (LOEUF)1.85
Genes detectedHLA-B
Sources retrieved50 papers
Response time—
📄 Sources
50▼
1
Preface. Drug hypersensitivity.
PMID: 19563987
Immunol Allergy Clin North Am · 2009
1.00
2
HLA-B*5701 and abacavir hypersensitivity.
PMID: 15564887
Pharmacogenetics · 2004
0.94
3
Rapid, Reliable, and Inexpensive
PMID: 29970431
Ann Clin Lab Sci · 2018
0.92
4
Obituary.
PMID: 27283134
HLA · 2016
0.90
5
An improved method for HLA-B and -C supratyping.
PMID: 26232127
J Immunol Methods · 2015
0.90