Gene: NOTCH2 (notch 2)  Homo sapiens

Symbol: NOTCH2
Name: notch 2
Description: This gene encodes a member of the Notch family. Members of this Type 1 transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple, different domain types. Notch family members play a role in a variety of developmental processes by controlling cell fate decisions. 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. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: AGS2; HJCYS; hN2; neurogenic locus notch homolog protein 2; notch gene homolog 2, (drosophila); Notch homolog 2; OTTHUMP00000014035
Orthologs: Mus musculus : Notch2 (notch 2)  MGI
Rattus norvegicus : Notch2 (notch 2)
Related Pseudogenes: NOTCH2P1  
Latest Assembly: Human Genome Assembly GRCh37
Position:
MapChrPositionStrandSource
Human Alternate Assembly CHM1_11120,525,839 - 120,683,986-NCBI
Human Genome Assembly HuRef1118,312,713 - 118,398,477-NCBI
Human Genome Assembly GRCh371120,454,176 - 120,612,317-NCBI
Human Genome Assembly Build 361120,255,699 - 120,413,799-NCBI
Human Cytogenetic Map1p13-p11 NCBI
Human Genome Assembly1120,166,219 - 120,324,318 NCBI
Model

Launch Genome Browser (GBrowse) : build 36 (hg18) build 37 (hg19)


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
References - curated
References - uncurated
RGD Disease Portals

Genomics

Comparative Map Data
Position Markers
QTLs in Region (Human Genome Assembly GRCh37)

Sequence

Nucleotide Sequences
Protein Sequences
Promoters

Additional Information

External Database Links
Nomenclature History
 
More on NOTCH2
Entrez Gene
Ensembl Gene
Genome Browser: (hg18) (hg19)
HGNC Report
NCBI Map Viewer
Vista
Vista + UCSC

RGD Object Information
RGD ID: 733357
Created: 2004-01-12
Species: Homo sapiens
Last Modified: 2013-04-23
Status: ACTIVE