NOTCH2NLC notch 2 N-terminal like C
Gene ID: 100996717, updated on 4-Jan-2025Gene type: protein coding
Also known as: N2N; ETM6; NIID; OPDM3; NOTCH2NL; NOTCH2NLA
Summary
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, Jan 2025]
Associated conditions
| Description | Tests |
|---|---|
| Neuronal intranuclear inclusion disease | not available |
| Oculopharyngodistal myopathy 3 | not available |
| Tremor, hereditary essential, 6 | not available |
Genomic context
- Location:
- 1q21.2
- Sequence:
- Chromosome: 1; NC_000001.11 (149390621..149471833)
- Total number of exons:
- 5
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for NOTCH2NLC variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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