NOTCH2 gene transcription

Stable Identifier
R-HSA-1912407
Type
Reaction [omitted]
Species
Homo sapiens
Compartment
nucleoplasm
Locations in the PathwayBrowser
Expand all
General
SVG | 
PNG
Low
Medium
High
 | PPTX  | SBGN
NOTCH2 gene transcription
Click the image above or here to open this reaction in the Pathway Browser
The layout of this reaction may differ from that in the pathway view due to the constraints in pathway layout

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

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

Leukemia 2000
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, Lardelli, M, White, I, Lendahl, U

Genomics 1994
16773578 NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway

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

Am J Hum Genet 2006
Participants
Input
Output
Participant Of
hasEvent
Authored
Egan, SE  (2011-11-14)
Orlic-Milacic, M  (2011-11-14)
Reviewed
Haw, R  (2012-02-06)
Created
Orlic-Milacic, M  (2011-11-02)