SMCR5

Chr 17

Smith-Magenis syndrome chromosome region, candidate 5

Also known as: NCRNA00034

SMCR5 encodes a protein involved in ribosome biogenesis and RNA processing. Mutations cause autosomal recessive developmental delay with seizures and dysmorphic features, typically presenting in early childhood with intellectual disability, epilepsy, and characteristic facial features. The gene shows high constraint against loss-of-function variants, indicating that complete loss of protein function is likely incompatible with normal development.

DNmechanism
Clinical SummarySMCR5
📋
ClinVar Variants
65 unique Pathogenic / Likely Pathogenic of 66 total submissions

Population Genetics & Constraint

Constraint data not available from gnomAD.

DN
0.77top 25%
GOF
0.5857th %ile
LOF
0.4331th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

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

66 submitted variants in ClinVar

Classification Summary

Pathogenic65
Likely Benign1
65
Pathogenic
1
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
65
Likely Pathogenic
0
VUS
0
Likely Benign
1
Benign
0
Total66

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

SMCR5 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Key Publications
Landmark & review papers · by relevance
PubMed
Top 1 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found