HINT2
Chr 9histidine triad nucleotide binding protein 2
Also known as: HIT-17
HINT2 encodes a mitochondrial histidine triad nucleotide hydrolase that exhibits adenosine 5'-monophosphoramidase activity, hydrolyzing purine nucleotide phosphoramidates to yield nucleotide products. Mutations cause autosomal recessive spastic paraplegia with axonal neuropathy, characterized by progressive spasticity and peripheral nerve involvement. The condition presents in childhood with lower limb spasticity and walking difficulties.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
HINT2 · 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