NOTCH2NL

May function in the Notch signaling pathway and regulate neutrophil differentiation.

Full Name

Notch homolog 2 (Drosophila) N-terminal like

Function

Human-specific protein that promotes neural progenitor proliferation and evolutionary expansion of the brain neocortex by regulating the Notch signaling pathway (PubMed:29856954, PubMed:29856955, PubMed:29561261).
Able to promote neural progenitor self-renewal, possibly by down-regulating neuronal differentiation genes, thereby delaying the differentiation of neuronal progenitors and leading to an overall final increase in neuronal production (PubMed:29856954).
Acts by enhancing the Notch signaling pathway via two different mechanisms that probably work in parallel to reach the same effect (PubMed:29856954).
Enhances Notch signaling pathway in a non-cell-autonomous manner via direct interaction with NOTCH2 (PubMed:29856954).
Also promotes Notch signaling pathway in a cell-autonomous manner through inhibition of cis DLL1-NOTCH2 interactions, which promotes neuronal differentiation (By similarity).

Biological Process

Cell differentiationIEA:UniProtKB-KW
Cerebral cortex developmentManual Assertion Based On ExperimentIDA:UniProtKB
Notch signaling pathwayIEA:UniProtKB-KW
Positive regulation of Notch signaling pathwayManual Assertion Based On ExperimentIDA:UniProtKB

Cellular Location

Secreted
Cytoplasm

Involvement in disease

Defects in NOTCH2NLA may be a cause of chromosome 1q21.1 deletion/duplication syndrome (PubMed:29856954). Deletions of NOTCH2NL (NOTCH2NLA, NOTCH2NLB and/or NOTCH2NLC) are present in patients affected by microcephaly, whereas macrocephaly is observed in patients with NOTCH2NL duplications (PubMed:29856954).

PTM

Cleaved by ELANE.