Notch Homolog 2 (NOTCH2)

AGS2; hN2; Neurogenic locus notch homolog protein 2

SPN	N239
HGNC	7882
MGI	97364
PubMed	22018469
RGD	3188
UniProt	Q04721
Wiki	NOTCH2

NOTCH2 encodes a member of the Notch family. The Notch signaling network is an evolutionarily conserved intercellular signaling pathway which regulates interactions between physically adjacent cells. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signaling pathway that plays a key role in development. Homologues of the notch-ligands have also been identified in human, but precise interactions between these ligands and the human notch homologues remain to be determined. This protein is cleaved in the trans-Golgi network, and presented on the cell surface as a heterodimer. This protein functions as a receptor for membrane bound ligands, and may play a role in vascular, renal and hepatic development.

Reference

"The DNA sequence and biological annotation of human chromosome 1."
Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]

"Human homologs of a Drosophila enhancer of split gene product define a novel family of nuclear proteins."
Nat. Genet. 2:119-127(1992) [PubMed] [Europe PMC] [Abstract]

"Intracellular cleavage of Notch leads to a heterodimeric receptor on the plasma membrane."
Cell 90:281-291(1997) [PubMed] [Europe PMC] [Abstract]

"Human ligands of the Notch receptor."
Am. J. Pathol. 154:785-794(1999) [PubMed] [Europe PMC] [Abstract]

"MAML1, a human homologue of Drosophila mastermind, is a transcriptional co-activator for NOTCH receptors."
Nat. Genet. 26:484-489(2000) [PubMed] [Europe PMC] [Abstract]

"Identification of a family of mastermind-like transcriptional coactivators for mammalian notch receptors."
Mol. Cell. Biol. 22:7688-7700(2002) [PubMed] [Europe PMC] [Abstract]

"Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]

"Asparaginyl hydroxylation of the Notch ankyrin repeat domain by factor inhibiting hypoxia-inducible factor."
J. Biol. Chem. 282:24027-24038(2007) [PubMed] [Europe PMC] [Abstract]

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Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]

"Interaction with factor inhibiting HIF-1 defines an additional mode of cross-coupling between the Notch and hypoxia signaling pathways."
Proc. Natl. Acad. Sci. U.S.A. 105:3368-3373(2008) [PubMed] [Europe PMC] [Abstract]

"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]

"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]

"Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis."
Nat. Genet. 43:306-308(2011) [PubMed] [Europe PMC] [Abstract]

"Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss."
Nat. Genet. 43:303-305(2011) [PubMed] [Europe PMC] [Abstract]

"Structural basis for autoinhibition of Notch."
Nat. Struct. Mol. Biol. 14:295-300(2007) [PubMed] [Europe PMC] [Abstract]

"NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway."
Am. J. Hum. Genet. 79:169-173(2006) [PubMed] [Europe PMC] [Abstract]