TECPR2
Chr 14ARtectonin beta-propeller repeat containing 2
Also known as: HSAN9, KIAA0329, SPG49
The TECPR2 protein functions as a positive regulator of autophagy, the cellular process that degrades damaged organelles and proteins. Autosomal recessive mutations cause hereditary sensory and autonomic neuropathy type IX with developmental delay, affecting both the peripheral nervous system and early neurodevelopment. The gene is highly constrained against loss-of-function variation (LOEUF 0.346), indicating that complete loss of protein function is likely not well tolerated.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
ClinVar Variant Classifications
400 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 19 | 1 | 5 | 1 | 26 |
Likely Pathogenic | 21 | 0 | 1 | 0 | 22 |
VUS | 0 | 122 | 10 | 5 | 137 |
Likely Benign | 0 | 4 | 84 | 125 | 213 |
Benign | 0 | 0 | 1 | 0 | 1 |
Conflicting | — | 1 | |||
| Total | 40 | 127 | 101 | 131 | 400 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
TECPR2 · 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
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools