Homo sapiens Gene: NOTCH2
Summary
InnateDB Gene IDBG-101546.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol NOTCH2
Gene Name notch 2
Synonyms AGS2; HJCYS; hN2;
Species Homo sapiens
Ensembl Gene ENSG00000134250
Encoded Proteins
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 1:119911553-120069626
Strand Reverse strand
Band p12
Transcripts
ENST00000256646 ENSP00000256646
ENST00000493703
ENST00000478864
ENST00000479412
ENST00000489731
ENST00000602566 ENSP00000473427
ENST00000612822 ENSP00000479088
ENST00000579475 ENSP00000477065
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 36 experimentally validated interaction(s) in this database.
They are also associated with 7 interaction(s) predicted by orthology.
Experimentally validated
Total 36 [view]
Protein-Protein 35 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 7 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004872 receptor activity
GO:0005509 calcium ion binding
GO:0005515 protein binding
GO:0038049 ligand-activated RNA polymerase II transcription factor binding transcription factor activity
Biological Process
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0001701 in utero embryonic development
GO:0001709 cell fate determination
GO:0001890 placenta development
GO:0002011 morphogenesis of an epithelial sheet
GO:0002437 inflammatory response to antigenic stimulus
GO:0003184 pulmonary valve morphogenesis
GO:0006355 regulation of transcription, DNA-templated
GO:0006367 transcription initiation from RNA polymerase II promoter
GO:0006915 apoptotic process
GO:0006959 humoral immune response
GO:0007050 cell cycle arrest
GO:0007219 Notch signaling pathway
GO:0007220 Notch receptor processing
GO:0007275 multicellular organismal development
GO:0007368 determination of left/right symmetry
GO:0007399 nervous system development
GO:0008284 positive regulation of cell proliferation
GO:0008285 negative regulation of cell proliferation
GO:0009887 organ morphogenesis
GO:0010467 gene expression
GO:0016049 cell growth
GO:0019827 stem cell maintenance
GO:0030097 hemopoiesis
GO:0030154 cell differentiation
GO:0030326 embryonic limb morphogenesis
GO:0030513 positive regulation of BMP signaling pathway
GO:0030522 intracellular receptor signaling pathway
GO:0043065 positive regulation of apoptotic process
GO:0043066 negative regulation of apoptotic process
GO:0046579 positive regulation of Ras protein signal transduction
GO:0046849 bone remodeling
GO:0050793 regulation of developmental process
GO:0060413 atrial septum morphogenesis
GO:0060674 placenta blood vessel development
GO:0061073 ciliary body morphogenesis
GO:0061314 Notch signaling involved in heart development
GO:0072602 interleukin-4 secretion
Cellular Component
GO:0000139 Golgi membrane
GO:0005576 extracellular region
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005789 endoplasmic reticulum membrane
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0005929 cilium
GO:0009986 cell surface
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0043235 receptor complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
Notch pathway
REACTOME
Pre-NOTCH Expression and Processing pathway
Notch-HLH transcription pathway pathway
NOTCH2 Activation and Transmission of Signal to the Nucleus pathway
Signal Transduction pathway
Pre-NOTCH Transcription and Translation pathway
Signaling by NOTCH2 pathway
Generic Transcription Pathway pathway
Signaling by NOTCH pathway
Pre-NOTCH Processing in the Endoplasmic Reticulum pathway
Pre-NOTCH Processing in Golgi pathway
NOTCH2 intracellular domain regulates transcription pathway
Gene Expression pathway
KEGG
Dorso-ventral axis formation pathway
Notch signaling pathway pathway
INOH
Notch signaling pathway pathway
PID BIOCARTA
PID NCI
Notch signaling pathway
Cross-References
SwissProt Q04721
TrEMBL D2WEZ3 Q13560 Q9UFD5 R4GN02
UniProt Splice Variant
Entrez Gene 4853
UniGene Hs.487360 Hs.601926
RefSeq NM_024408 XM_005270901 XM_005270902 XM_006710667
HUGO HGNC:7882
OMIM 600275
CCDS CCDS908
HPRD
IMGT
EMBL AF308601 AF315356 AL133036 AL359752 AL512503 AL596222 GQ231534 U50549 U77493
GenPept AAA36377 AAB17664 AAB19224 AAG37073 ADB12482 CAB61366 CAH70182 CAH72483 CAI18974
RNA Seq Atlas 4853