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MRD5
Chr 6ADsynaptic Ras GTPase activating protein 1
Also known as: MRD5, RASA5, SYNGAP
The encoded protein is a Ras GTPase activating protein that is part of the NMDA receptor complex and negatively regulates Ras, Rap, and AMPA receptor trafficking to regulate synaptic plasticity and neuronal homeostasis. Mutations cause intellectual developmental disorder, autosomal dominant 5, which is associated with intellectual disability and autism spectrum disorder. This follows an autosomal dominant inheritance pattern.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/MRD5?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
MRD5 · 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