Details for Gene VDR

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

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