SNAPC4
Chr 9ARsmall nuclear RNA activating complex polypeptide 4
Also known as: NEDRSO, PTFalpha, SNAP190
The protein is the largest subunit of the small nuclear RNA-activating protein (SNAPc) complex that binds to promoter elements and is essential for RNA polymerase II and III transcription of small nuclear RNA genes. Mutations cause ankylosing spondylitis, which follows autosomal dominant inheritance and primarily affects the spine and sacroiliac joints. The gene shows no significant constraint against loss-of-function variants.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SNAPC4 · 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