SURF2
Chr 9surfeit 2
Also known as: SURF-2
SURF2 encodes a conserved protein expressed across multiple tissues, though its specific function remains unclear. The gene is highly constrained against loss-of-function variants (pLI ~0), but pathogenic variants in SURF2 and their associated clinical phenotypes have not been established. This gene shares a bidirectional promoter with SURF1, which is associated with Leigh syndrome when mutated.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SURF2 · 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