Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID	100996717
Gene name	Notch 2 N-terminal like C
Gene symbol	NOTCH2NLC
Synonyms (NCBI Gene)	ETM6N2NNIIDNOTCH2NLNOTCH2NLAOPDM3
Chromosome	1
Chromosome location	1q21.2

Show/Hide all (10)

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

MIM	HGNC	e!Ensembl
618025	53924	ENSG00000286219

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

Interactions

View interactions

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)

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
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

NOTCH2NLC (notch 2 N-terminal like C)