HTRA2
Chr 2ARHtrA serine peptidase 2
The protein is a mitochondrial serine protease that promotes apoptosis by cleaving inhibitor proteins and relieving their suppression of caspases. Mutations cause autosomal recessive Parkinson disease 13 and 3-methylglutaconic aciduria type VIII. The gene shows low constraint against loss-of-function variants (pLI 0.004, LOEUF 0.756), which is consistent with recessive inheritance where heterozygous carriers are typically unaffected.
Definitive — sufficient evidence for diagnostic panels
Some data sources returned errors (1)
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
HTRA2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
mRNA Expression and Genetic Polymorphisms Affecting DRD3 (rs6280) and HTR2A (rs6313) in Bruxism
NOT YET RECRUITINGA Study to Evaluate Genetic Predictors of Aromatase Inhibitor Musculoskeletal Symptoms (AIMSS)
ACTIVE NOT RECRUITINGExternal Resources
Links to major genomics databases and tools