- Pathway & Structure
- Disease States
- Assay Kits & Services
- Human Isoforms
- Drug Information
- Additional Information
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]
There are 881 articles specifically referring to this gene in PubMed. Functionally, the gene has been tested for association to diseases (?Osteoporosis, involutional; Adenoma; Alopecia; Alveolar Bone Loss; Anemia; Arthritis, Rheumatoid; Asthma; beta-Thalassemia; body mass; lipoproteins; blood pressure; CrossLaps, urinary; osteocalcin; Body Weight and 63 others) and proposed to participate in processes (calcium ion transport, cellular calcium ion homeostasis, induction of apoptosis by hormones, intestinal absorption, lactation and 7 others). Proteins are expected to have molecular functions (metal ion binding, protein binding, sequence-specific DNA binding, steroid hormone receptor activity, zinc ion binding) and to localize in various compartments (nucleus, nuclear heterochromatin). Putative protein interactors have been described (ACVR1, BAG1, BAZ1B, CCND3, CDK7, CDKL3ANDPPP2CA, CREBBP, CSNK2A1, FGR, FOS and 44 others).
(Over 200 diseases; see HUGENavigator for complete list)
- Prostatic Neoplasms
- Osteoporosis, Postmenopausal
- Breast Neoplasms
- Diabetes Mellitus, Type 1
- Colorectal Neoplasms
- Vitamin D Deficiency
- Diabetes Mellitus, Type 2
- Tuberculosis, Pulmonary
- Disease Progression
- Kidney Failure, Chronic
- Multiple Sclerosis
- Skin Neoplasms
- Fractures, Bone
- Lupus Erythematosus, Systemic
- Ovarian Neoplasms
- Colonic Neoplasms
- Arthritis, Rheumatoid
- Kidney Calculi
- Chronic Disease
- Carcinoma, Squamous Cell
- Hyperparathyroidism, Secondary
- Body Weight
- Prostatic Hyperplasia
- Kidney Diseases
- Lead Poisoning
- Lung Neoplasms
- Insulin Resistance
- Polycystic Ovary Syndrome
Assay Kits and Services are available from INDIGO Biosciences.
Kits are offered in different assay formats to accommodate researchers’ needs: 3x 32, 1x 96, and 1x 384 assay formats for screening small numbers of test compounds, as well as custom bulk reagents for HTS applications. Assay systems are all inclusive, providing reporter cells, optimized growth media, media for diluting test compounds, a positive-control agonist, luciferase detection reagent, a white assay plate, a detailed protocol, and a protocol quick guide. All kits are shipped on dry ice.
VDR Reporter Cells are prepared using INDIGO’s proprietary CryoMite™ process. This cryo-preservation method yields high cell viability post-thaw, and provides the convenience of immediately dispensing healthy, division-competent reporter cells into assay plates. There is no need for intermediate spin-and-wash steps, viability determinations, or cell titer adjustments.
The principle application of this assay product is in the screening of test samples to quantify functional activities, either agonist or antagonist, that they may exert against the human vitamin d receptor. This kit product is an all-inclusive assay system that includes, in addition to VDR Reporter Cells, two optimized media for use during cell culture and (optionally) in diluting the test samples, a reference agonist, Luciferase Detection Reagent, a cell culture-ready assay plate, and a detailed protocol.
The gene contains 16 distinct gt-ag introns. Transcription produces 7 alternatively spliced mRNAs. There are 2 probable alternative promotors (see the diagram). The mRNAs appear to differ by truncation of the 5' end, presence or absence of 2 cassette exons, overlapping exons with different boundaries.
ACVR1, BAG1, BAZ1B, CCND3, CDK7, CDKL3ANDPPP2CA, CREBBP, CSNK2A1, FGR, FOS and many others.
- Calcitriol (JAN/USP/INN); Rocaltrol (TN)
- Ergocalciferol (JP16/USP); Calciferol (TN); Drisdol (TN)
- Cholecalciferol (JP16/USP); Colecalciferol (INN); Vitamin D3; Delta-D (TN)
- Dihydrotachysterol (JAN/USP/INN); Hytakerol (TN)
- Paricalcitol (JAN/USAN/INN); Zemplar (TN)
- Maxacalcitol (JAN/USAN/INN); Oxarol (TN); Prezios (TN)
- Calcipotriol (JAN); Calcipotriene (USAN); Dovonex (TN)
- Tacalcitol hydrate (JP16); Tacalcitol oinment (JP16); Bonalfa high (TN); Curatoderm (TN)
- Alfacalcidol (JAN/INN); Alsiodol (TN)
- Falecalcitriol (JAN/INN); Hornel (TN)
- Eldecalcitol (JAN/INN); Edirol (TN)
- Tacalcitol (INN); Bonalfa (TN)
- Becocalcidiol (USAN/INN)
- Calcipotriol hydrate (JAN); Calcipotriol monohydrate