Official symbol | VDR |
Gene id | 7421 |
Organism | Homo sapiens |
Official full symbol | vitamin D receptor |
Gene type | protein-coding |
Also known as | NR1I1, PPP1R163 |
Summary | This gene encodes vitamin D3 receptor, which is a member of the nuclear hormone receptor superfamily of ligand-inducible transcription factors. This receptor also functions as a receptor for the secondary bile acid, lithocholic acid. Downstream targets of vitamin D3 receptor are principally involved in mineral metabolism, though this receptor regulates a variety of other metabolic pathways, such as those involved in immune response and cancer. Mutations in this gene are associated with type II vitamin D-resistant rickets. A single nucleotide polymorphism in the initiation codon results in an alternate translation start site three codons downstream. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. A recent study provided evidence for translational readthrough in this gene, and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon. |
Genomic regions | Chromosome 12 |
Name | Transcript ID | bp | Protein | Biotype | CCDS | UniProt Match | RefSeq Match | Flags |
VDR-202 | ENST00000395324.6 | 4762 | 427aa | Protein coding | CCDS8757 | P11473-1 | - | TSL:5, GENCODE basic, APPRIS P4, |
VDR-206 | ENST00000549336.6 | 4616 | 427aa | Protein coding | CCDS8757 | P11473-1 | NM_000376.3 | TSL:1, GENCODE basic, APPRIS P4, MANE Select v0.92, |
VDR-208 | ENST00000550325.5 | 3925 | 477aa | Protein coding | CCDS55820 | P11473-2 | - | TSL:1, GENCODE basic, APPRIS ALT2, |
VDR-201 | ENST00000229022.9 | 3404 | 494aa | Protein coding | - | A0A5K1VW50 | - | TSL:5, GENCODE basic, APPRIS ALT2, |
VDR-203 | ENST00000546653.5 | 937 | 250aa | Protein coding | - | F8VRJ4 | - | CDS 3' incomplete, TSL:5, |
VDR-205 | ENST00000548664.1 | 596 | 101aa | Protein coding | - | F8VPF8 | - | CDS 3' incomplete, TSL:5, |
VDR-207 | ENST00000550314.5 | 562 | 106aa | Protein coding | - | F8VVY8 | - | CDS 3' incomplete, TSL:3, |
VDR-204 | ENST00000547065.1 | 1782 | 49aa | Nonsense mediated decay | - | F8VXQ9 | - | TSL:2, |
Target Gene | VDR |
This KO Strategy | loading |
Red Cotton™ Notes | Gene VDR had been KO in hela cell line. |
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