NOTCH2NLC
Chr 1ADnotch 2 N-terminal like C
Also known as: ETM6, NIID, OPDM3
Enables Notch binding activity. Involved in cerebral cortex development and positive regulation of Notch signaling pathway. Located in extracellular region. Implicated in essential tremor 6; neuronal intranuclear inclusion disease; and oculopharyngodistal myopathy 3. [provided by Alliance of Genome Resources, Jul 2025]
Primary Disease Associations & Inheritance
Some data sources returned errors (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
NOTCH2NLC · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Effect of NOTCH2NLC Gene Variations on NIID Clinical Features
RECRUITINGRepetitive Transcranial Magnetic Stimulation Therapy in Essential Tremor
RECRUITINGLong-read Genome Sequencing for the Molecular Diagnosis of Dystonia
RECRUITINGThe Benefits of Long-read High-throughput Genomic Sequencing for the Causal Diagnosis of Cerebellar Ataxias
RECRUITINGExternal Resources
Links to major genomics databases and tools