HLA-DRB1

Chr 6

major histocompatibility complex, class II, DR beta 1

Also known as: DRB1, HLA-DR1B, HLA-DRB, SS1

NCBI Gene: 3123ENSG00000196126UniProt: P01911

HLA-DRB1 belongs to the HLA class II beta chain paralogs. The class II molecule is a heterodimer consisting of an alpha (DRA) and a beta chain (DRB), 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. The beta chain is approximately 26-28 kDa. It is encoded by 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 DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Hundreds of DRB1 alleles have been described and some alleles have increased frequencies associated with certain diseases or conditions. For example, DRB1*1302 has been related to acute and chronic hepatitis B virus persistence. There are multiple pseudogenes of this gene. [provided by RefSeq, Jul 2020]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtSarcoidosis 1
UniProtMultiple sclerosis
UniProtRheumatoid arthritis
4
Active trials
530
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.16
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.16LOEUF
pLI 0.001
Z-score 1.23
OE 0.59 (0.32–1.16)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
1.18Z-score
OE missense 0.70 (0.58–0.84)
84 obs / 120.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.59 (0.32–1.16)
0≤0.351.4
Missense OE?0.70 (0.58–0.84)
0≤0.61.4
Synonymous OE?0.81
0≤1.21.6
LoF obs/exp: 6 / 10.2Missense obs/exp: 84 / 120.4Syn Z: 1.06

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

HLA-DRB1 · protein map & ClinVar variants

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

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients