HLA-DQA2

Chr 6

major histocompatibility complex, class II, DQ alpha 2

Also known as: DC-alpha, DQA1, DX-ALPHA, HLA-DCA, HLA-DXA, HLADQA2

This gene belongs to the HLA class II alpha chain family. The encoded protein forms a heterodimer with a class II beta chain. It is located in intracellular vesicles and plays a central role in the peptide loading of MHC class II molecules by helping to release the CLIP molecule from the peptide binding site. Class II molecules are expressed in antigen presenting cells (B lymphocytes, dendritic cells, macrophages) and are used to present antigenic peptides on the cell surface to be recognized by CD4 T-cells. [provided by RefSeq, Jun 2010]

ResearchGenerating clinical summary…
0
Active trials
17
Pubs (1 yr)
P/LP submissions
P/LP missense
1.60
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?
1.60LOEUF
pLI 0.000
Z-score 0.26
OE 0.91 (0.531.60)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.27Z-score
OE missense 1.07 (0.931.23)
138 obs / 129.5 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.91 (0.531.60)
00.351.4
Missense OE?1.07 (0.931.23)
00.61.4
Synonymous OE?0.97
01.21.6
LoF obs/exp: 8 / 8.8Missense obs/exp: 138 / 129.5Syn Z: 0.17

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

HLA-DQA2 · 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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