NOTCH2NLC (notch 2 N-terminal like C)

Gene

• Entrez ID: 100996717
• Gene name: Notch 2 N-terminal like C
• Gene symbol: NOTCH2NLC
• Synonyms (NCBI Gene): ETM6, N2N, NIID, NOTCH2NL, NOTCH2NLA, OPDM3
• Chromosome: 1
• Chromosome location: 1q21.2

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	29856954, 32296183
GO:0005576	Component	Extracellular region	IDA	29856954
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0007219	Process	Notch signaling pathway	IEA
GO:0021987	Process	Cerebral cortex development	IDA	29561261, 29856954
GO:0021987	Process	Cerebral cortex development	IEA
GO:0045747	Process	Positive regulation of Notch signaling pathway	IDA	29856954
GO:0045747	Process	Positive regulation of Notch signaling pathway	IEA

Other IDs

• MIM: 618025
• HGNC: 53924
• e!Ensembl: ENSG00000286219

Protein

• UniProt ID: P0DPK4
• Protein name: Notch homolog 2 N-terminal-like protein C
• Protein function: Human-specific protein that promotes neural progenitor proliferation and evolutionary expansion of the brain neocortex by regulating the Notch signaling pathway (PubMed:29561261, PubMed:29856954, PubMed:29856955). Able to promote neural progenit
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00008	EGF	29 → 61	EGF-like domain	Domain
  PF00008	EGF	69 → 102	EGF-like domain	Domain
  PF00008	EGF	109 → 139	EGF-like domain	Domain
  PF07645	EGF_CA	143 → 186	Calcium-binding EGF domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in radial glia neural stem cells during cortical development. {ECO:0000269|PubMed:29856954}.
• Sequence:

  MCVTYHNGTGYCKCPEGFLGEYCQHRDPCEKNRCQNGGTCVAQAMLGKATCRCASGFTGE
  DCQYSTSHPCFVSRPCLNGGTCHMLSRDTYECTCQVGFTGKECQWTDACLSHPCANGSTC
  TTVANQFSCKCLTGFTGQKCETDVNECDIPGHCQHGGTCLNLPGSYQCQCLQGFTGQYCD
  SLYVPCAPSPCVNGGTCRQTGDFTFECNCLPETVRRGTELWERDREVWNGKEHDEN

• Sequence length: 236

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
OCULOPHARYNGODISTAL MYOPATHY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OCULOPHARYNGODISTAL MYOPATHY 3	—	ClinVar, Disgenet, HPO ClinVar, Disgenet, HPO ClinVar, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREMOR, HEREDITARY ESSENTIAL, 6	—	ClinVar, Disgenet, HPO ClinVar, Disgenet, HPO ClinVar, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Autistic Disorder	Autism	BEFREE	29856954		★☆☆☆☆ Found in Text Mining only
Essential Tremor	Tremor	BEFREE	31819945		★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	BEFREE	31433517		★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	14673143		★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	BEFREE	29856954		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	29856954		★☆☆☆☆ Found in Text Mining only
Neuronal intranuclear inclusion disease	Neuronal Intranuclear Inclusion Disease	ORPHANET_DG	31178126		★☆☆☆☆ Found in Text Mining only
Neuronal intranuclear inclusion disease	Neuronal Intranuclear Inclusion Disease	Orphanet			★☆☆☆☆ Found in Text Mining only
Neuronal intranuclear inclusion disease	Neuronal Intranuclear Inclusion Disease	BEFREE	31332380, 31332381, 31433517		★☆☆☆☆ Found in Text Mining only
Neuronal intranuclear inclusion disease	Neuronal Intranuclear Inclusion Disease	CTD_human_DG	31332380, 31332381		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	BEFREE	14673143		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	29856954		★☆☆☆☆ Found in Text Mining only