Gene table of JAG1 : jagged 1

Gene-disease associations table

Disease IDDisease nameSource of annotation with JAG1OMIM linkNumber of associated genesgenes
187500TETRALOGY OF FALLOTClinVar, OMIM, HUMSAVAR link to OMIM 7GATA4, NKX2-5, TBX1, GATA6, ZFPM2, GDF1, JAG1
PS118450ALAGILLE SYNDROMEClinVar, OMIM, HUMSAVAR link to OMIM 2NOTCH2, JAG1

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Annotation of the gene JAG1

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 regulated by the following TF:

Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
TNF signaling pathwayhsa046685.96
Notch signaling pathwayhsa043307.12
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Constitutive Signaling by NOTCH1 HD Domain MutantsR-HSA-26912329.08
Signaling by NOTCH1 HD Domain Mutants in CancerR-HSA-26912309.08
Signaling by NOTCH1R-HSA-19801436.81
Signaling by NOTCH2R-HSA-19801457.98
Diseases of signal transductionR-HSA-56632024.89
Signaling by NOTCH3R-HSA-19801489.52
Signaling by NOTCH1 in CancerR-HSA-26446037.15
Signaling by NOTCH1 PEST Domain Mutants in CancerR-HSA-26446027.15
Constitutive Signaling by NOTCH1 PEST Domain MutantsR-HSA-26446067.15
Signaling by NOTCH4R-HSA-19801509.52
Signaling by NOTCH1 HD+PEST Domain Mutants in CancerR-HSA-28948587.15
Signal TransductionR-HSA-1625821.78
Signaling by NOTCHR-HSA-1571186.2
Constitutive Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation MutantR-HSA-266082610.18
Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation MutantR-HSA-266082510.18
Activated NOTCH1 Transmits Signal to the NucleusR-HSA-21229488.08
Constitutive Signaling by NOTCH1 HD+PEST Domain MutantsR-HSA-28948627.15
DiseaseR-HSA-16436853.33
NOTCH2 Activation and Transmission of Signal to the NucleusR-HSA-29790968.59
Associated GO terms for Molecular function
GO termGO IDGO IC
cation bindingGO:00431691.4
growth factor activityGO:00080834.66
ion bindingGO:00431671.36
bindingGO:00054880.18
protein bindingGO:00055150.46
receptor bindingGO:00051022.43
metal ion bindingGO:00468721.41
structural molecule activityGO:00051983.1
Notch bindingGO:00051126.85
calcium ion bindingGO:00055093.17