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notch homolog 2 N-terminal-like protein B (NOTCH2NLB)

Function: - human-specific protein - promotes neural progenitor proliferation & evolutionary expansion of the brain neocortex by regulating the notch signaling pathway - promotes neural progenitor self-renewal, possibly by down-regulating neuronal differentiation genes, thus delaying differentiation of neuronal progenitors leading to an increase in neuronal production - acts by enhancing the notch signaling pathway via two different mechanisms that probably work in parallel to reach the same effect - enhances notch signaling pathway in a non-cell-autonomous manner via direct interaction with NOTCH2 - promotes notch signaling pathway in a cell-autonomous manner through inhibition of cis DLL1-NOTCH2 interactions, which promotes neuronal differentiation Structure: belongs to the NOTCH family, Compartment: secreted Alternative splicing: named isoforms=2 Expression: - expressed in radial glia neural stem cells during cortical development - expressed at low levels at 7-9 gestational weeks & then increases at later stages, including in the non-cortical plate region at gestational week 21, containing the outer-subventricular zone Pathology: - defects in NOTCH2NLB may be a cause of chromosome 1q21.1 deletion/duplication syndrome - deletions of NOTCH2NL (NOTCH2NLA, NOTCH2NLB &/or NOTCH2NLC) are present in patients affected by microcephaly, whereas macrocephaly is observed in patients with NOTCH2NL duplications Evolution: - NOTCH2NLA, NOTCH2NLB & NOTCH2NLC paralogs arosebetween 4 & 3 million years ago, after the separation of hominids from the chimpanzee & during the early stages of the expansion of the human cortex

General

evolutionary divergent human protein notch (Drosophila) homolog protein secreted protein

Properties

SIZE: entity length = 275 aa MW = 30 kD COMPARTMENT: plasma membrane MOTIF: ligand-binding site EGF domain Notch/Lin12 repeat ankyrin repeat NAME: ankyrin repeat transmembrane domain

Database Correlations

UniProt P0DPK3 PFAM correlations

References

  1. UniProt :accession P0DPK3
  2. UniProt PubMed refs - PMID: 29856954 - PMID: 29856955 - PMID: 856954