Details for Gene JAG1

GENE NAME JAG1
CHROMOSOME 20
ENSEMBL ID None
ENTREZ ID ENSG00000101384
UNIPROT ACCESSION NUMBER P78504
GO MOLECULAR FUNCTION ['growth factor activity', 'calcium ion binding', 'structural molecule activity', 'Notch binding', 'protein binding', 'phospholipid binding']
ESSENTIAL IN MOUSE Essential
PATHWAYS hsa01522; hsa04330; hsa04371; hsa04658; hsa04668; hsa05165; hsa05200; hsa05224; R-HSA-157118; R-HSA-162582; R-HSA-1643685; R-HSA-1980143; R-HSA-1980145; R-HSA-2122948; R-HSA-212436; R-HSA-2644602; R-HSA-2644603; R-HSA-2644606; R-HSA-2660825; R-HSA-2660826; R-HSA-2691230; R-HSA-2691232; R-HSA-2894858; R-HSA-2894862; R-HSA-2979096; R-HSA-5663202; R-HSA-73857; R-HSA-74160; R-HSA-8878159; R-HSA-8941856; R-HSA-9012852; R-HSA-9013507; R-HSA-9013694; R-HSA-9013700; hsa01522; hsa04330; hsa04371; hsa04658; hsa04668; hsa05165; hsa05200; hsa05224; R-HSA-157118; R-HSA-162582; R-HSA-1643685; R-HSA-1980143; R-HSA-1980145; R-HSA-2122948; R-HSA-212436; R-HSA-2644602; R-HSA-2644603; R-HSA-2644606; R-HSA-2660825; R-HSA-2660826; R-HSA-2691230; R-HSA-2691232; R-HSA-2894858; R-HSA-2894862; R-HSA-2979096; R-HSA-5663202; R-HSA-73857; R-HSA-74160; R-HSA-8878159; R-HSA-8941856; R-HSA-9012852; R-HSA-9013507; R-HSA-9013694; R-HSA-9013700
10 combinations linked to JAG1 OLI588; OLI1078; OLI1094; OLI427; OLI581; OLI582; OLI1079; OLI1497; OLI584; OLI1498
7 variants linked to JAG1 JAG1:c.323A>T, p.Asn108Ile; JAG1:p.Arg937Gln; JAG1:p.Ile1021Thr; JAG1:p.Arg744Gln; JAG1:c.526G>A, p.Val176Ile; JAG1:c.133G>C, p.Val45Leu; JAG1:c.133G>T, p.Val45Leu
2 diseases linked to JAG1 Congenital hypothyroidism; Kallmann syndrome
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