NOTCH2 Chromosome 1

Notch receptor 2
210 variants 210 Health Risk

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What This Gene Does
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 Info
Gene Group
Notch receptors
Locus Type
gene with protein product
Location
1p12
Ensembl
ENSG00000134250
Associated Conditions (11)
Hajdu-Cheney syndrome
NOTCH2-related disorder
Alagille syndrome due to a NOTCH2 point mutation
Inborn genetic diseases
Ovarian serous cystadenocarcinoma
Premature ovarian failure
See cases
Neoplasm
Keratoacanthoma
Monoclonal B-Cell Lymphocytosis
KA-like vemurafenib-induced squamous lesions
Key Variants
RS1000209105
Conflicting classifications of pathogenicity
Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
Health Risk
RS1004494435
Conflicting classifications of pathogenicity
Hajdu-Cheney syndrome, NOTCH2-related disorder, Alagille syndrome due to a NOTCH2 point mutation
Health Risk
RS1031665170
Conflicting classifications of pathogenicity
Hajdu-Cheney syndrome, Inborn genetic diseases, NOTCH2-related disorder
Health Risk
RS1064793515
Conflicting classifications of pathogenicity
Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
Health Risk
RS115013051
Conflicting classifications of pathogenicity
Hajdu-Cheney syndrome, NOTCH2-related disorder, Hajdu-Cheney syndrome
Health Risk
RS116321057
Conflicting classifications of pathogenicity
Hajdu-Cheney syndrome, NOTCH2-related disorder, Hajdu-Cheney syndrome
Health Risk
RS1174406807
Conflicting classifications of pathogenicity
Hajdu-Cheney syndrome, Alagille syndrome due to a NOTCH2 point mutation, Hajdu-Cheney syndrome
Health Risk
RS118188023
Conflicting classifications of pathogenicity
Hajdu-Cheney syndrome, NOTCH2-related disorder, Inborn genetic diseases
Health Risk
RS1220746088
Conflicting classifications of pathogenicity
Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
Health Risk
RS1314464356
Conflicting classifications of pathogenicity
Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
Health Risk
RS1324363153
Conflicting classifications of pathogenicity
Alagille syndrome due to a NOTCH2 point mutation, Hajdu-Cheney syndrome, Alagille syndrome due to a NOTCH2 point mutation
Health Risk
RS138817140
Conflicting classifications of pathogenicity
Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
Health Risk
All Variants (210)
RSID Category Clinical Significance Conditions
RS2101145073 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS2101162618 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Alagille syndrome due to a NOTCH2 point mutation, Hajdu-Cheney syndrome
RS2526112802 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Alagille syndrome due to a NOTCH2 point mutation, Hajdu-Cheney syndrome
RS2526300115 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, NOTCH2-related disorder, Alagille syndrome due to a NOTCH2 point mutation
RS367699419 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, NOTCH2-related disorder, Hajdu-Cheney syndrome
RS368664174 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS368724241 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS368918146 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS369254585 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS369586235 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, NOTCH2-related disorder, Hajdu-Cheney syndrome
RS369664394 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Alagille syndrome due to a NOTCH2 point mutation, NOTCH2-related disorder
RS369891453 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, NOTCH2-related disorder, Hajdu-Cheney syndrome
RS369912969 Health Risk Conflicting classifications of pathogenicity NOTCH2-related disorder, Hajdu-Cheney syndrome, NOTCH2-related disorder
RS370349228 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Inborn genetic diseases, Hajdu-Cheney syndrome
RS371060516 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Inborn genetic diseases, NOTCH2-related disorder
RS371567728 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Alagille syndrome due to a NOTCH2 point mutation, Hajdu-Cheney syndrome
RS372087953 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS372367275 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, NOTCH2-related disorder, Hajdu-Cheney syndrome
RS372465730 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, NOTCH2-related disorder, Hajdu-Cheney syndrome
RS372549390 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS372751663 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, NOTCH2-related disorder, Hajdu-Cheney syndrome
RS372916164 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, NOTCH2-related disorder, Alagille syndrome due to a NOTCH2 point mutation
RS373166152 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS373667418 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Inborn genetic diseases, Hajdu-Cheney syndrome
RS374224226 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS375142978 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS376503331 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, NOTCH2-related disorder, Hajdu-Cheney syndrome
RS376526633 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Alagille syndrome due to a NOTCH2 point mutation, Inborn genetic diseases
RS377469966 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS4021006 Health Risk Conflicting classifications of pathogenicity
RS563486507 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, NOTCH2-related disorder, Hajdu-Cheney syndrome
RS587610159 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Alagille syndrome due to a NOTCH2 point mutation, Hajdu-Cheney syndrome
RS587621243 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS587650323 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, NOTCH2-related disorder, Alagille syndrome due to a NOTCH2 point mutation
RS587654671 Health Risk Conflicting classifications of pathogenicity NOTCH2-related disorder, Hajdu-Cheney syndrome, Alagille syndrome due to a NOTCH2 point mutation
RS587697719 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, NOTCH2-related disorder, Hajdu-Cheney syndrome
RS587718458 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS587735797 Health Risk Conflicting classifications of pathogenicity NOTCH2-related disorder, Inborn genetic diseases, Hajdu-Cheney syndrome
RS587748556 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, NOTCH2-related disorder, Hajdu-Cheney syndrome
RS587778578 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a NOTCH2 point mutation, Hajdu-Cheney syndrome, NOTCH2-related disorder
RS61752485 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS745861610 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, NOTCH2-related disorder, Hajdu-Cheney syndrome
RS746117178 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS747138507 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS747190078 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Alagille syndrome due to a NOTCH2 point mutation, Hajdu-Cheney syndrome
RS747743815 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS748310274 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Inborn genetic diseases, Hajdu-Cheney syndrome
RS751003534 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Inborn genetic diseases, Hajdu-Cheney syndrome
RS752354633 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS753043164 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
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