NOTCH2 Chromosome 1
Notch receptor 2
Upload your DNA to see your personal genotypes for variants in NOTCH2.
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 |
|---|---|---|---|
| RS2526107938 | Health Risk | Likely pathogenic | Hajdu-Cheney syndrome, Hajdu-Cheney syndrome |
| RS2526108695 | Health Risk | Likely pathogenic | Alagille syndrome due to a NOTCH2 point mutation, Hajdu-Cheney syndrome, Alagille syndrome due to a NOTCH2 point mutation |
| RS2526206561 | Health Risk | Likely pathogenic | Hajdu-Cheney syndrome, Hajdu-Cheney syndrome |
| RS2526300230 | Health Risk | Likely pathogenic | Alagille syndrome due to a NOTCH2 point mutation, Alagille syndrome due to a NOTCH2 point mutation |
| RS781957465 | Health Risk | Likely pathogenic | — |
| RS782059779 | Health Risk | Likely pathogenic | Hajdu-Cheney syndrome, Hajdu-Cheney syndrome |
| RS1064793660 | Health Risk | Pathogenic | — |
| RS111033632 | Health Risk | Pathogenic | Alagille syndrome due to a NOTCH2 point mutation, Alagille syndrome due to a NOTCH2 point mutation |
| RS1325403451 | Health Risk | Pathogenic | Hajdu-Cheney syndrome, Neoplasm, Alagille syndrome due to a NOTCH2 point mutation |
| RS1435723160 | Health Risk | Pathogenic | Hajdu-Cheney syndrome, Hajdu-Cheney syndrome |
| RS1553193485 | Health Risk | Pathogenic | Hajdu-Cheney syndrome, Hajdu-Cheney syndrome |
| RS1553193524 | Health Risk | Pathogenic | — |
| RS1553193574 | Health Risk | Pathogenic | Hajdu-Cheney syndrome, Hajdu-Cheney syndrome |
| RS1553193977 | Health Risk | Pathogenic | Hajdu-Cheney syndrome, Hajdu-Cheney syndrome |
| RS1553194093 | Health Risk | Pathogenic | — |
| RS1553195973 | Health Risk | Pathogenic | — |
| RS1553199298 | Health Risk | Pathogenic | — |
| RS1553200134 | Health Risk | Pathogenic | — |
| RS1557801639 | Health Risk | Pathogenic | Hajdu-Cheney syndrome, Hajdu-Cheney syndrome |
| RS1557802165 | Health Risk | Pathogenic | Hajdu-Cheney syndrome, Hajdu-Cheney syndrome |
| RS1557802353 | Health Risk | Pathogenic | Hajdu-Cheney syndrome, Hajdu-Cheney syndrome |
| RS1557803353 | Health Risk | Pathogenic | — |
| RS1557807153 | Health Risk | Pathogenic | — |
| RS1557812162 | Health Risk | Pathogenic | Hajdu-Cheney syndrome, Hajdu-Cheney syndrome |
| RS1570658378 | Health Risk | Pathogenic | Alagille syndrome due to a NOTCH2 point mutation, Alagille syndrome due to a NOTCH2 point mutation |
| RS1649037695 | Health Risk | Pathogenic | Hajdu-Cheney syndrome, Hajdu-Cheney syndrome |
| RS1649047546 | Health Risk | Pathogenic | Hajdu-Cheney syndrome, Hajdu-Cheney syndrome |
| RS1649066485 | Health Risk | Pathogenic | Hajdu-Cheney syndrome, Hajdu-Cheney syndrome |
| RS1649084282 | Health Risk | Pathogenic | Alagille syndrome due to a NOTCH2 point mutation, Alagille syndrome due to a NOTCH2 point mutation |
| RS1649134213 | Health Risk | Pathogenic | NOTCH2-related disorder, Hajdu-Cheney syndrome, NOTCH2-related disorder |
| RS1649314295 | Health Risk | Pathogenic | Hajdu-Cheney syndrome, Hajdu-Cheney syndrome |
| RS1649449471 | Health Risk | Pathogenic | Hajdu-Cheney syndrome, Hajdu-Cheney syndrome |
| RS2101122493 | Health Risk | Pathogenic | Hajdu-Cheney syndrome, Hajdu-Cheney syndrome |
| RS2101139955 | Health Risk | Pathogenic | Hajdu-Cheney syndrome, Hajdu-Cheney syndrome |
| RS2101141863 | Health Risk | Pathogenic | Hajdu-Cheney syndrome, Hajdu-Cheney syndrome |
| RS2101142159 | Health Risk | Pathogenic | Hajdu-Cheney syndrome, Hajdu-Cheney syndrome |
| RS2101142928 | Health Risk | Pathogenic | Hajdu-Cheney syndrome, Hajdu-Cheney syndrome |
| RS2101145406 | Health Risk | Pathogenic | Keratoacanthoma, Keratoacanthoma |
| RS2526104121 | Health Risk | Pathogenic | — |
| RS2526105966 | Health Risk | Pathogenic | Hajdu-Cheney syndrome, Hajdu-Cheney syndrome |
| RS2526107620 | Health Risk | Pathogenic | Hajdu-Cheney syndrome, Hajdu-Cheney syndrome |
| RS2526112692 | Health Risk | Pathogenic | Hajdu-Cheney syndrome, Hajdu-Cheney syndrome |
| RS2526112913 | Health Risk | Pathogenic | Alagille syndrome due to a NOTCH2 point mutation, Alagille syndrome due to a NOTCH2 point mutation |
| RS2526140861 | Health Risk | Pathogenic | Hajdu-Cheney syndrome, Hajdu-Cheney syndrome |
| RS2526141876 | Health Risk | Pathogenic | Alagille syndrome due to a NOTCH2 point mutation, Alagille syndrome due to a NOTCH2 point mutation |
| RS2526149314 | Health Risk | Pathogenic | Hajdu-Cheney syndrome, Hajdu-Cheney syndrome |
| RS2526313922 | Health Risk | Pathogenic | Hajdu-Cheney syndrome, Hajdu-Cheney syndrome |
| RS312262798 | Health Risk | Pathogenic | Alagille syndrome due to a NOTCH2 point mutation, Alagille syndrome due to a NOTCH2 point mutation |
| RS387906746 | Health Risk | Pathogenic | Hajdu-Cheney syndrome, Hajdu-Cheney syndrome |
| RS387906747 | Health Risk | Pathogenic | Hajdu-Cheney syndrome, Hajdu-Cheney syndrome |