Notch 2 information

NOTCH2
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2OO4
Identifiers
Aliases	NOTCH2, AGS2, HJCYS, hN2, Notch-2, notch 2, notch receptor 2
External IDs	OMIM: 600275; MGI: 97364; HomoloGene: 7865; GeneCards: NOTCH2; OMA:NOTCH2 - orthologs
Gene location (Human)
Chr.	Chromosome 1 (human)
End	120,100,779 bp
Gene location (Mouse)
Chr.	Chromosome 3 (mouse)
End	98,057,677 bp
RNA expression pattern
	Top expressed in
	retinal pigment epithelium; ; skin of hip; ; skin of thigh; ; ventricular zone; ; synovial joint; ; caput epididymis; ; vulva; ; lactiferous duct; ; tail of epididymis; ; skin of arm;
	Top expressed in
	ciliary body; ; retinal pigment epithelium; ; aortic valve; ; ascending aorta; ; vas deferens; ; vestibular sensory epithelium; ; cumulus cell; ; conjunctival fornix; ; epithelium of lens; ; molar;
	More reference expression data
	; ; ; ;
	More reference expression data
Gene ontology
Molecular function	calcium ion binding; protein binding; signaling receptor activity;
Cellular component	cytoplasm; integral component of membrane; endoplasmic reticulum membrane; membrane; Golgi membrane; receptor complex; plasma membrane; integral component of plasma membrane; nucleoplasm; extracellular region; cell surface; nucleus;
Biological process	Notch signaling pathway; cell differentiation; hemopoiesis; pulmonary valve morphogenesis; regulation of transcription, DNA-templated; positive regulation of Ras protein signal transduction; negative regulation of apoptotic process; marginal zone B cell differentiation; transcription, DNA-templated; nervous system development; stem cell population maintenance; multicellular organism development; atrial septum morphogenesis; regulation of developmental process; bone remodeling; animal organ morphogenesis; transcription initiation from RNA polymerase II promoter; Notch signaling involved in heart development; apoptotic process; cell fate determination; intracellular receptor signaling pathway; negative regulation of gene expression; negative regulation of growth rate; positive regulation of ERK1 and ERK2 cascade; regulation of osteoclast development; positive regulation of keratinocyte proliferation; regulation of actin cytoskeleton reorganization;
	Sources:Amigo / QuickGO
Orthologs
	4853
	18129
	ENSG00000134250
	ENSMUSG00000027878
	Q04721
	O35516
	NM_001200001; NM_024408
	NM_010928
	NP_001186930; NP_077719
	NP_035058
	Wikidata
View/Edit Human	View/Edit Mouse

Neurogenic locus notch homolog protein 2 (Notch 2) is a protein that in humans is encoded by the NOTCH2 gene.^[5]

NOTCH2 is associated with Alagille syndrome^[6] and Hajdu–Cheney syndrome.^[7]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000134250 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000027878 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Larsson C, Lardelli M, White I, Lendahl U (May 1995). "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". Genomics. 24 (2): 253–8. doi:10.1006/geno.1994.1613. PMID 7698746.
^ Samejima H, Torii C, Kosaki R, Kurosawa K, Yoshihashi H, Muroya K, Okamoto N, Watanabe Y, Kosho T, Kubota M, Matsuda O, Goto M, Izumi K, Takahashi T, Kosaki K (2007). "Screening for Alagille syndrome mutations in the JAG1 and NOTCH2 genes using denaturing high-performance liquid chromatography". Genet. Test. 11 (3): 216–27. doi:10.1089/gte.2006.0519. PMID 17949281.
^ Simpson MA, Irving MD, Asilmaz E, Gray MJ, Dafou D, Elmslie FV, Mansour S, Holder SE, Brain CE, Burton BK, Kim KH, Pauli RM, Aftimos S, Stewart H, Kim CA, Holder-Espinasse M, Robertson SP, Drake WM, Trembath RC (2011-03-06). "Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss". Nature Genetics. 43 (4): 303–5. doi:10.1038/ng.779. PMID 21378985. S2CID 205357391.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000134250 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000027878 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid7698746-5] Larsson C, Lardelli M, White I, Lendahl U (May 1995). "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". Genomics. 24 (2): 253–8. doi:10.1006/geno.1994.1613. PMID 7698746.

[pmid17949281-6] Samejima H, Torii C, Kosaki R, Kurosawa K, Yoshihashi H, Muroya K, Okamoto N, Watanabe Y, Kosho T, Kubota M, Matsuda O, Goto M, Izumi K, Takahashi T, Kosaki K (2007). "Screening for Alagille syndrome mutations in the JAG1 and NOTCH2 genes using denaturing high-performance liquid chromatography". Genet. Test. 11 (3): 216–27. doi:10.1089/gte.2006.0519. PMID 17949281.

[pmid21378985-7] Simpson MA, Irving MD, Asilmaz E, Gray MJ, Dafou D, Elmslie FV, Mansour S, Holder SE, Brain CE, Burton BK, Kim KH, Pauli RM, Aftimos S, Stewart H, Kim CA, Holder-Espinasse M, Robertson SP, Drake WM, Trembath RC (2011-03-06). "Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss". Nature Genetics. 43 (4): 303–5. doi:10.1038/ng.779. PMID 21378985. S2CID 205357391.

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