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NEDHSIL
Chr 5ADmyocyte enhancer factor 2C
Also known as: C5DELq14.3, DEL5q14.3, NEDHSIL
This gene encodes MEF2C, a transcription factor with DNA binding and trans-activating activities that maintains the differentiated state of muscle cells and plays a role in myogenesis. Mutations cause a neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language, or the broader chromosome 5q14.3 deletion syndrome which includes severe cognitive disability, stereotypic movements, epilepsy, and cerebral malformations. The condition follows autosomal dominant inheritance.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/NEDHSIL?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
NEDHSIL · 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