Gene: NOTCH2

Alternate names for this Gene: AGS2|HJCYS|hN2

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.

Gene is located in Chromosome: 1

Location in Chromosome : 1p12

Description of this Gene: notch receptor 2

Type of Gene: protein-coding

rs111033632 in NOTCH2 gene and Alagille Syndrome 2 PMID 16773578 2006 NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway.

rs372562666 in NOTCH2 gene and Breast Carcinoma PMID 29059683 2017 Association analysis identifies 65 new breast cancer risk loci.

rs10923931 in NOTCH2 gene and Coronary heart disease PMID 21347282 2011 Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.

rs10923931 in NOTCH2 gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 17463246 2007 Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels.

PMID 23300278 2013 Genome-wide association study identifies a novel locus contributing to type 2 diabetes susceptibility in Sikhs of Punjabi origin from India.

PMID 28869590 2017 Identification of new susceptibility loci for type 2 diabetes and shared etiological pathways with coronary heart disease.

PMID 21647700 2011 Genome-wide association and meta-analysis in populations from Starr County, Texas, and Mexico City identify type 2 diabetes susceptibility loci and enrichment for expression quantitative trait loci in top signals.

PMID 18372903 2008 Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes.

PMID 30054458 2018 Genome-wide association analyses identify 143 risk variants and putative regulatory mechanisms for type 2 diabetes.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1553193507 in NOTCH2 gene and Hajdu-Cheney Syndrome PMID 21378989 2011 Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis.

PMID 27312922 2016 End-Stage Renal Disease in an Infant With Hajdu-Cheney Syndrome.

PMID 8755249 1996 PEST sequences and regulation by proteolysis.

PMID 21378985 2011 Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss.

rs835573 in NOTCH2 gene and Lupus Erythematosus, Systemic PMID 28714469 2017 Transancestral mapping and genetic load in systemic lupus erythematosus.

rs771237928 in NOTCH2 gene and Monoclonal B-Cell Lymphocytosis PMID 22891273 2012 The coding genome of splenic marginal zone lymphoma: activation of NOTCH2 and other pathways regulating marginal zone development.

PMID 22891276 2012 Whole-genome sequencing identifies recurrent somatic NOTCH2 mutations in splenic marginal zone lymphoma.

rs10923929 in NOTCH2 gene and White Blood Cell Count procedure PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.