VDR (vitamin D (1,25- dihydroxyvitamin D3) receptor)

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Keyword

Gene: VDR (vitamin D (1,25- dihydroxyvitamin D3) receptor) Homo sapiens

Symbol:

VDR

Name:

vitamin D (1,25- dihydroxyvitamin D3) receptor

Description:

This gene encodes the nuclear hormone receptor for vitamin D3. This receptor also functions as a receptor for the secondary bile acid lithocholic acid. The receptor belongs to the family of trans-acting transcriptional regulatory factors and shows sequence similarity to the steroid and thyroid hormone receptors. Downstream targets of this nuclear hormone receptor are principally involved in mineral metabolism though the receptor regulates a variety of other metabolic pathways, such as those involved in the 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. Alternative splicing results in multiple transcript variants encoding different proteins. [provided by RefSeq, Feb 2011]

Type:

protein-coding

RefSeq Status:

REVIEWED

Also known as:

1,25-dihydroxyvitamin D3 receptor; NR1I1; nuclear receptor subfamily 1 group I member 1; OTTHUMP00000242391; OTTHUMP00000242392; OTTHUMP00000242393; vitamin d (1,25-dihydroxyvitamin d3) receptor; vitamin D nuclear receptor variant 1; vitamin D3 receptor

Orthologs:

Mus musculus : Vdr (vitamin D receptor) MGI
Rattus norvegicus : Vdr (vitamin D (1,25- dihydroxyvitamin D3) receptor)

Latest Assembly:

Human Genome Assembly GRCh37

Position:

Map	Chr	Position	Strand	Source
Human Alternate Assembly CHM1_1	12	48,068,710 - 48,132,200	-	NCBI
Human Genome Assembly HuRef	12	45,266,368 - 45,330,677	-	NCBI
Human Genome Assembly GRCh37	12	48,235,320 - 48,298,814	-	NCBI
Human Genome Assembly Build 36	12	46,521,587 - 46,585,081	-	NCBI
Human Cytogenetic Map	12	q13.11		NCBI
Human Genome Assembly	12	46,521,588 - 46,585,036		NCBI