HLA-DOA

Chr 6

major histocompatibility complex, class II, DO alpha

Also known as: HLA-DNA, HLA-DZA, HLADZ

HLA-DOA belongs to the HLA class II alpha chain paralogues. HLA-DOA forms a heterodimer with HLA-DOB. The heterodimer, HLA-DO, is found in lysosomes in B cells and regulates HLA-DM-mediated peptide loading on MHC class II molecules. In comparison with classical HLA class II molecules, this gene exhibits very little sequence variation, especially at the protein level. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…
0
Active trials
5
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 -0.81
OE 1.27 (0.821.85)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.47Z-score
OE missense 0.89 (0.781.03)
141 obs / 157.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?1.27 (0.821.85)
00.351.4
Missense OE?0.89 (0.781.03)
00.61.4
Synonymous OE?0.83
01.21.6
LoF obs/exp: 13 / 10.2Missense obs/exp: 141 / 157.6Syn Z: 1.08

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

HLA-DOA · 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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