NOTCH3
Summary: This gene encodes the third discovered human homologue of the Drosophilia melanogaster type I membrane protein notch. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signalling pathway that plays a key role in neural development. Homologues of the notch-ligands have also been identified in human, but precise interactions between these ligands and the human notch homologues remains to be determined. Mutations in NOTCH3 have been identified as the underlying cause of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). [provided by RefSeq, Jul 2008].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
Namenotch 3 OMIM IDMIM:600276 Ensembl IDEnsembl:ENSG00000074181 HGNC IDHGNC:HGNC:7883 PHARMGKB IDPA31685 Map Location19p13.12 | |||||
GO terms in NOTCH3
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IEA | GO:0005509 | calcium ion binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | IEA | GO:0019899 | enzyme binding |
| MF | IMP | GO:0038023 | signaling receptor activity |
| MF | IPI | GO:0042802 | identical protein binding |
| MF | HDA | GO:0045296 | cadherin binding |
Gene expression in normal tissue: NOTCH3
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in NOTCH3
Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-157118 | Signaling by NOTCH |
| reactome | R-HSA-157118 | Signaling by NOTCH |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-1643685 | Disease |
| reactome | R-HSA-1912399 | Pre-NOTCH Processing in the Endoplasmic Reticulum |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in NOTCH3
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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