Gene table of NOTCH3 : notch 3

Gene-disease associations table

Disease IDDisease nameSource of annotation with NOTCH3OMIM linkNumber of associated genesgenes
125310CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1ClinVar, OMIM, HUMSAVAR link to OMIM 1NOTCH3
130720LATERAL MENINGOCELE SYNDROMEClinVar, OMIM link to OMIM 1NOTCH3
PS228550INFANTILE MYOFIBROMATOSISClinVar, OMIM, HUMSAVAR link to OMIM 2PDGFRB, NOTCH3

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Annotation of the gene NOTCH3

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST

It is a TF of the genes:

It is regulated by the following TF:

Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Notch signaling pathwayhsa043307.12
Thyroid hormone signaling pathwayhsa049195.82
Dorso-ventral axis formationhsa043208.01
MicroRNAs in cancerhsa052065.38
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Signaling by NOTCH3R-HSA-19801489.52
Gene ExpressionR-HSA-741602.72
Pre-NOTCH Transcription and TranslationR-HSA-19124088.12
Pre-NOTCH Processing in the Endoplasmic ReticulumR-HSA-191239910.4
Generic Transcription PathwayR-HSA-2124363.86
Pre-NOTCH Processing in GolgiR-HSA-19124208.81
Pre-NOTCH Expression and ProcessingR-HSA-19124227.49
Signaling by NOTCHR-HSA-1571186.2
Notch-HLH transcription pathwayR-HSA-3500549.28
Signal TransductionR-HSA-1625821.78
Associated GO terms for Molecular function
GO termGO IDGO IC
bindingGO:00054880.18
cation bindingGO:00431691.4
enzyme bindingGO:00198992.27
ion bindingGO:00431671.36
molecular transducer activityGO:00600892.32
receptor activityGO:00048722.32
protein bindingGO:00055150.46
metal ion bindingGO:00468721.41
calcium ion bindingGO:00055093.17