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
RS1000209105 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS1004494435 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, NOTCH2-related disorder, Alagille syndrome due to a NOTCH2 point mutation
RS1031665170 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Inborn genetic diseases, NOTCH2-related disorder
RS1064793515 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS115013051 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, NOTCH2-related disorder, Hajdu-Cheney syndrome
RS116321057 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, NOTCH2-related disorder, Hajdu-Cheney syndrome
RS1174406807 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Alagille syndrome due to a NOTCH2 point mutation, Hajdu-Cheney syndrome
RS118188023 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, NOTCH2-related disorder, Inborn genetic diseases
RS1220746088 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS1314464356 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS1324363153 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a NOTCH2 point mutation, Hajdu-Cheney syndrome, Alagille syndrome due to a NOTCH2 point mutation
RS138817140 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS138943874 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, NOTCH2-related disorder, Hajdu-Cheney syndrome
RS1390174762 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, NOTCH2-related disorder, Hajdu-Cheney syndrome
RS139052054 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Alagille syndrome due to a NOTCH2 point mutation, NOTCH2-related disorder
RS140311741 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, NOTCH2-related disorder, Hajdu-Cheney syndrome
RS140832430 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Alagille syndrome due to a NOTCH2 point mutation, NOTCH2-related disorder
RS142462128 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, NOTCH2-related disorder, Inborn genetic diseases
RS143045192 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS143134864 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, NOTCH2-related disorder, Hajdu-Cheney syndrome
RS143282787 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS144047610 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, NOTCH2-related disorder, Hajdu-Cheney syndrome
RS144085962 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Alagille syndrome due to a NOTCH2 point mutation, NOTCH2-related disorder
RS144936899 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, NOTCH2-related disorder, Hajdu-Cheney syndrome
RS145077404 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Alagille syndrome due to a NOTCH2 point mutation, Hajdu-Cheney syndrome
RS145566650 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, NOTCH2-related disorder, Hajdu-Cheney syndrome
RS145628676 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Inborn genetic diseases, Hajdu-Cheney syndrome
RS145799900 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS146014987 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a NOTCH2 point mutation, Hajdu-Cheney syndrome, NOTCH2-related disorder
RS147522485 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, NOTCH2-related disorder, Hajdu-Cheney syndrome
RS147795348 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS148393324 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Inborn genetic diseases, Alagille syndrome due to a NOTCH2 point mutation
RS148613210 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a NOTCH2 point mutation, Hajdu-Cheney syndrome, Alagille syndrome due to a NOTCH2 point mutation
RS149036937 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, NOTCH2-related disorder, Hajdu-Cheney syndrome
RS149906722 Health Risk Conflicting classifications of pathogenicity
RS151130105 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, NOTCH2-related disorder, Inborn genetic diseases
RS1553194472 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS1553195867 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Alagille syndrome due to a NOTCH2 point mutation, Inborn genetic diseases
RS1553199845 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Alagille syndrome due to a NOTCH2 point mutation, Hajdu-Cheney syndrome
RS1557804884 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, NOTCH2-related disorder, Alagille syndrome due to a NOTCH2 point mutation
RS1557814141 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS187731832 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS193116983 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS199585130 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Alagille syndrome due to a NOTCH2 point mutation, NOTCH2-related disorder
RS200524116 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS201100122 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, NOTCH2-related disorder, Ovarian serous cystadenocarcinoma
RS201233415 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Inborn genetic diseases, Hajdu-Cheney syndrome
RS201643251 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a NOTCH2 point mutation, Hajdu-Cheney syndrome, Alagille syndrome due to a NOTCH2 point mutation
RS201996575 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Alagille syndrome due to a NOTCH2 point mutation, Hajdu-Cheney syndrome
RS2101137614 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a NOTCH2 point mutation, Hajdu-Cheney syndrome, Alagille syndrome due to a NOTCH2 point mutation
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