MRD6
Chr 12ADglutamate ionotropic receptor NMDA type subunit 2B
Also known as: DEE27, EIEE27, GluN2B, MRD6, NMDAR2B, NR2B, NR3, hNR3
This gene encodes an NMDA receptor subunit that functions as an agonist binding site for glutamate and mediates calcium-permeable excitatory synaptic transmission in the central nervous system. Mutations cause intellectual developmental disorder, autosomal dominant 6, with or without seizures, following an autosomal dominant inheritance pattern. The protein plays important roles in brain development, circuit formation, and synaptic plasticity during early development.
Primary Disease Associations & Inheritance
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/MRD6?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
MRD6 · 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