HLA-DPB1

Chr 6

major histocompatibility complex, class II, DP beta 1

Also known as: DPB1, HLA-DP, HLA-DP1B, HLA-DPB

NCBI Gene: 3115ENSG00000223865UniProt: P04440

HLA-DPB belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DPA) and a beta chain (DPB), both anchored in the membrane. It plays 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). 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. Within the DP molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to 4 different molecules. [provided by RefSeq, Jul 2008]

Primary Disease Associations & Inheritance

{Beryllium disease, chronic, susceptibility to}
18
ClinVar variants
5
Pathogenic / LP
0.00
pLI score
1
Active trials
Clinical Summary— HLA-DPB1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
5 Pathogenic / Likely Pathogenic· 3 VUS of 18 total submissions
💊
Clinical Trials
1 active or recruiting trial — potential therapeutic options may be available

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.60LOEUF
pLI 0.000
Z-score -0.12
OE 1.03 (0.68–1.60)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
1.40Z-score
OE missense 0.67 (0.57–0.80)
98 obs / 145.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.1.03 (0.68–1.60)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.67 (0.57–0.80)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.78
0≤1.21.6
LoF obs/exp: 14 / 13.5Missense obs/exp: 98 / 145.6Syn Z: 1.39

ClinVar Variant Classifications

18 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic4
Likely Pathogenic1
VUS3
Likely Benign6
Benign4
4
Pathogenic
1
Likely Pathogenic
3
VUS
6
Likely Benign
4
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
4
0
4
Likely Pathogenic
0
0
1
0
1
VUS
0
1
2
0
3
Likely Benign
0
0
2
4
6
Benign
0
1
1
2
4
Total0210618

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

HLA-DPB1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM

{Beryllium disease, chronic, susceptibility to}

Molecular basis of disorder known

Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis.
Rhodes CJ et al.·Lancet Respir Med
2019Meta-analysis
Immune Escape of Relapsed AML Cells after Allogeneic Transplantation.
Christopher MJ et al.·N Engl J Med
2018
SARS-CoV-2 mRNA vaccination elicits a robust and persistent T follicular helper cell response in humans.
Mudd PA et al.·Cell
2022
HLA molecular mismatches and induced donor-specific tolerance in combined living donor kidney and hematopoietic stem cell transplantation.
Senev A et al.·Front Immunol
2024
Deep sequencing of the MHC region in the Chinese population contributes to studies of complex disease.
Zhou F et al.·Nat Genet
2016
Genetic risk of extranodal natural killer T-cell lymphoma: a genome-wide association study in multiple populations.
Lin GW et al.·Lancet Oncol
2020
A single-cell characterised signature integrating heterogeneity and microenvironment of lung adenocarcinoma for prognostic stratification.
Xu J et al.·EBioMedicine
2024
What we should know about natural killer/T-cell lymphomas.
Xiong J et al.·Hematol Oncol
2019Review
HLA-DPA1*02:01~B1*01:01 is a risk haplotype for primary sclerosing cholangitis mediating activation of NKp44+ NK cells.
Zecher BF et al.·Gut
2024
HLA and asthma phenotypes/endotypes: a review.
Kontakioti E et al.·Hum Immunol
2014Review
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov
Haematologic Disease

Phase I Study of CTL Anti-DP Infusion Post-hematopoietic Stem Cell Transplantation

RECRUITING
NCT04180059Phase PHASE1Nantes University HospitalStarted 2020-02-09
CTL 19

External Resources

Links to major genomics databases and tools