GENE NAME | VDR |
CHROMOSOME | 12 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000111424 |
UNIPROT ACCESSION NUMBER | P11473 |
GO MOLECULAR FUNCTION | ['DNA binding', 'zinc ion binding', 'vitamin D response element binding', 'RNA polymerase II cis-regulatory region sequence-specific DNA binding', 'lithocholic acid receptor activity', 'retinoid X receptor binding', 'nuclear receptor activity', 'protein binding', 'calcitriol binding', 'DNA-binding transcription factor activity', 'lithocholic acid binding', 'DNA-binding transcription factor activity, RNA polymerase II-specific'] |
ESSENTIAL IN MOUSE | Non-essential |
PATHWAYS | hsa04928; hsa04961; hsa04978; hsa05152; R-HSA-1430728; R-HSA-196791; R-HSA-212436; R-HSA-2990846; R-HSA-3108232; R-HSA-383280; R-HSA-392499; R-HSA-4090294; R-HSA-556833; R-HSA-597592; R-HSA-73857; R-HSA-74160; R-HSA-8957322 |
1 combination linked to VDR | OLI1746 |
1 variant linked to VDR | VDR:c.176C>T, p.Thr59Ile |
1 disease linked to VDR | 46,XY disorder of sex development |