MKRN2OS
Chr 3MKRN2 opposite strand
Also known as: C3orf83, MKRN2-AS1
This gene encodes a long non-coding RNA antisense to the MKRN2 gene that is involved in regulating gene expression. Mutations cause a neurodevelopmental disorder characterized by intellectual disability, developmental delay, and behavioral abnormalities with onset in early childhood. The condition follows an autosomal dominant inheritance pattern, though the gene shows low constraint against loss-of-function variants.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
MKRN2OS · 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