Details for Gene NFATC1

GENE NAME NFATC1
CHROMOSOME 18
ENSEMBL ID ENSG00000131196
ENTREZ ID 4772
UNIPROT ACCESSION NUMBER O95644
GO MOLECULAR FUNCTION protein binding; DNA-binding transcription factor activity; DNA binding; FK506 binding
ESSENTIAL IN MOUSE Essential
PATHWAYS hsa05161; hsa04625; hsa04660; hsa05235; hsa05135; hsa04933; hsa05167; R-HSA-5607763; hsa04662; hsa05170; hsa04380; R-HSA-1168372; R-HSA-168256; hsa04659; R-HSA-5607764; R-HSA-1280218; R-HSA-168249; R-HSA-5621481; R-HSA-2871809; R-HSA-4086398; hsa04022; hsa04218; R-HSA-3858494; hsa04921; hsa05166; hsa05163; hsa04658; hsa04650; R-HSA-162582; R-HSA-2025928; hsa04310; R-HSA-195721; R-HSA-2454202; hsa04010; hsa05321; R-HSA-983705; hsa04024
1 combination linked to NFATC1 OLI248
1 variant linked to NFATC1 NFATC1:c.665G>A, p.Arg222Gln
2 diseases linked to NFATC1 Congenital glaucoma; Rare congenital non-syndromic heart malformation

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