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
RS754385929 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, NOTCH2-related disorder, Hajdu-Cheney syndrome
RS756388778 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Inborn genetic diseases, Hajdu-Cheney syndrome
RS759456867 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS760004891 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Alagille syndrome due to a NOTCH2 point mutation, Hajdu-Cheney syndrome
RS761415665 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS764210725 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a NOTCH2 point mutation, Hajdu-Cheney syndrome, Inborn genetic diseases
RS764335447 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS767706572 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS771638958 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, NOTCH2-related disorder, Hajdu-Cheney syndrome
RS774867522 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS778914409 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Alagille syndrome due to a NOTCH2 point mutation, Hajdu-Cheney syndrome
RS779311707 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, NOTCH2-related disorder, Inborn genetic diseases
RS779769077 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Alagille syndrome due to a NOTCH2 point mutation, Inborn genetic diseases
RS780347544 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Alagille syndrome due to a NOTCH2 point mutation, Hajdu-Cheney syndrome
RS781975437 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Alagille syndrome due to a NOTCH2 point mutation, Hajdu-Cheney syndrome
RS781999109 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, NOTCH2-related disorder, Hajdu-Cheney syndrome
RS782036233 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Inborn genetic diseases, Hajdu-Cheney syndrome
RS782057759 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS782101275 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS782178170 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, NOTCH2-related disorder, Hajdu-Cheney syndrome
RS782323295 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Alagille syndrome due to a NOTCH2 point mutation, Hajdu-Cheney syndrome
RS782444829 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Alagille syndrome due to a NOTCH2 point mutation, Hajdu-Cheney syndrome
RS782463588 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, NOTCH2-related disorder, Inborn genetic diseases
RS782491901 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS782642000 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a NOTCH2 point mutation, Hajdu-Cheney syndrome, NOTCH2-related disorder
RS782709024 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Alagille syndrome due to a NOTCH2 point mutation, Hajdu-Cheney syndrome
RS782728045 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a NOTCH2 point mutation, Hajdu-Cheney syndrome, NOTCH2-related disorder
RS886042285 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS886042848 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
RS886044699 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS886044854 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS923129064 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Inborn genetic diseases, Alagille syndrome due to a NOTCH2 point mutation
RS999822357 Health Risk Conflicting classifications of pathogenicity Premature ovarian failure, Hajdu-Cheney syndrome, Premature ovarian failure
RS1382733866 Health Risk Likely pathogenic Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS1553202301 Health Risk Likely pathogenic —
RS1557804111 Health Risk Likely pathogenic Alagille syndrome due to a NOTCH2 point mutation, Alagille syndrome due to a NOTCH2 point mutation
RS1557825245 Health Risk Likely pathogenic —
RS1557826721 Health Risk Likely pathogenic —
RS1570654979 Health Risk Likely pathogenic Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS1570655570 Health Risk Likely pathogenic Alagille syndrome due to a NOTCH2 point mutation, Alagille syndrome due to a NOTCH2 point mutation
RS1649088431 Health Risk Likely pathogenic Alagille syndrome due to a NOTCH2 point mutation, Alagille syndrome due to a NOTCH2 point mutation
RS1650362306 Health Risk Likely pathogenic Alagille syndrome due to a NOTCH2 point mutation, Alagille syndrome due to a NOTCH2 point mutation
RS2101098803 Health Risk Likely pathogenic Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS2101114577 Health Risk Likely pathogenic Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS2101142622 Health Risk Likely pathogenic Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS2101143618 Health Risk Likely pathogenic Alagille syndrome due to a NOTCH2 point mutation, Hajdu-Cheney syndrome, Alagille syndrome due to a NOTCH2 point mutation
RS2101144082 Health Risk Likely pathogenic See cases, Alagille syndrome due to a NOTCH2 point mutation, Hajdu-Cheney syndrome
RS2101144806 Health Risk Likely pathogenic Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS2101151409 Health Risk Likely pathogenic —
RS2526103665 Health Risk Likely pathogenic NOTCH2-related disorder, NOTCH2-related disorder
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