SRRM2
Chr 16ADserine/arginine repetitive matrix 2
Also known as: 300-KD, CWF21, Cwc21, HSPC075, MRD72, SRL300, SRm300
The protein is required for pre-mRNA splicing as a component of both major and minor spliceosomes, participating in the removal of introns from pre-mRNAs. Mutations cause intellectual developmental disorder, autosomal dominant 72, following an autosomal dominant inheritance pattern. The gene is highly constrained against loss-of-function mutations (pLI ~1.0, LOEUF 0.118), indicating that functional copies are essential for normal development.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Among the most LoF-intolerant genes (~top 3%)
Tolerant to missense variation
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SRRM2 · 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