SMCR2
Chr 17Smith-Magenis syndrome chromosome region, candidate 2
Also known as: TCONS_00025215
SMCR2 encodes a protein that functions as a transcriptional regulator involved in chromatin organization and gene expression control. Mutations cause autosomal recessive intellectual disability with seizures and dysmorphic features, typically presenting in early childhood. The gene shows high constraint against loss-of-function variants, indicating that complete loss of protein function is likely pathogenic.
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
66 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | — | — | — | — | 64 |
Likely Pathogenic | — | — | — | — | 0 |
VUS | — | — | — | — | 2 |
Likely Benign | — | — | — | — | 0 |
Benign | — | — | — | — | 0 |
| Total | — | 66 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
SMCR2 · 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 →No open access results found
External Resources
Links to major genomics databases and tools