HLA-DQB2

Chr 6

major histocompatibility complex, class II, DQ beta 2

Also known as: DQB2, HLA-DQB1, HLA-DXB

NCBI Gene: 3120ENSG00000232629UniProt: P05538

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. [provided by RefSeq, Oct 2010]

0
ClinVar variants
0
Pathogenic / LP
0.04
pLI score
0
Active trials
Clinical Summary— HLA-DQB2
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.04) — loss-of-function variants are relatively tolerated in the population.

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.
0.84LOEUF
pLI 0.043
Z-score 1.94
OE 0.37 (0.18–0.84)
Tolerant

Typical tolerance to LoF variation

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.
1.14Z-score
OE missense 0.73 (0.62–0.86)
102 obs / 139.9 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.0.37 (0.18–0.84)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.73 (0.62–0.86)
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.0.75
0≤1.21.6
LoF obs/exp: 4 / 10.9Missense obs/exp: 102 / 139.9Syn Z: 1.46

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

HLA-DQB2 · 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
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Integration of osimertinib-targeted EGFR gene-associated differential gene expression in constructing a prognostic model for lung adenocarcinoma.
Li H et al.·Funct Integr Genomics
2024Functional
High soluble HLA-DQB2 levels in posttransplant serum are associated with kidney graft dysfunction.
Mine KL et al.·Int J Immunogenet
2022
Bioinformatics analysis of the clinical significance of HLA class II in breast cancer.
Wu G et al.·Medicine (Baltimore)
2022
Machine learning modeling and prognostic value analysis of invasion-related genes in cutaneous melanoma.
Yang E et al.·Comput Biol Med
2023Functional
Circulating CD1c+ myeloid dendritic cells are potential precursors to LCH lesion CD1a+CD207+ cells.
Lim KPH et al.·Blood Adv
2020
Disulfidptosis-related prognostic signature correlates with immunotherapy response in colorectal cancer.
Xiao Y et al.·Sci Rep
2024
Fine-mapping studies distinguish genetic risks for childhood- and adult-onset asthma in the HLA region.
Clay SM et al.·Genome Med
2022
CD74, a novel predictor for bronchopulmonary dysplasia in preterm infants.
Gao J et al.·Medicine (Baltimore)
2020
Clinical and genetic characteristics of ankylosing spondylitis patients with peripheral arthritis at disease onset.
Polo Y La Borda J et al.·Clin Exp Rheumatol
2019Cohort
Comprehensive investigating of cytokine and receptor related genes variants in patients with chronic hepatitis B virus infection.
Yu F et al.·Cytokine
2018Cohort
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

No active trials found for this gene.

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External Resources

Links to major genomics databases and tools