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 |