HLA-DRB5

Chr 6

major histocompatibility complex, class II, DR beta 5

Also known as: DRB5, HLA-DRB5*

HLA-DRB5 belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DRA) and a beta (DRB) chain, 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 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 DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. There are multiple pseudogenes of this gene. [provided by RefSeq, Feb 2020]

ResearchGenerating clinical summary…
0
Active trials
55
Pubs (1 yr)
P/LP submissions
P/LP missense
1.85
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

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.85LOEUF
pLI 0.000
Z-score -0.51
OE 1.20 (0.711.85)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.61Z-score
OE missense 0.82 (0.680.99)
75 obs / 91.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?1.20 (0.711.85)
00.351.4
Missense OE?0.82 (0.680.99)
00.61.4
Synonymous OE?1.07
01.21.6
LoF obs/exp: 9 / 7.5Missense obs/exp: 75 / 91.3Syn Z: -0.31

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

HLA-DRB5 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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