NOTCH2 gene transcription

Stable Identifier
Reaction [BlackBoxEvent]
Homo sapiens
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The NOTCH2 gene maps to human chromosome 1. NOTCH2 gene expression is differentially regulated during human B-cell development, with NOTCH2 transcripts appearing at late developmental stages. NOTCH2 mutations are a rare cause of Alagille syndrome. Alagille syndrome is a dominant multisystem disorder mainly characterized by hepatic bile duct abnormalities, and is predominantly caused by mutations in JAG1, a NOTCH2 ligand.

Literature References
PubMed ID Title Journal Year
7698746 The human NOTCH1, 2, and 3 genes are located at chromosome positions 9q34, 1p13-p11, and 19p13.2-p13.1 in regions of neoplasia-associated translocation

Larsson, C, White, I, Lardelli, M, Lendahl, U

Genomics 1994
11187898 Notch-1 and Notch-2 exhibit unique patterns of expression in human B-lineage cells

Eckfeldt, CE, Bertrand, FE, LeBien, TW, Lysholm, AS

Leukemia 2000
16773578 NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway

Krantz, ID, Sanchez-Lara, PA, Spinner, NB, Pai, A, Warthen, DM, Piccoli, DA, McDaniell, R

Am J Hum Genet 2006
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