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Protein Coding Gene : Vdr vitamin D (1,25-dihydroxyvitamin D3) receptor

Primary Identifier  MGI:103076 Organism  mouse, laboratory
Chromosome  15 NCBI Gene Number  22337
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0)

Enables DNA binding activity and nuclear receptor activity. Acts upstream of or within several processes, including intestinal absorption; mammary gland development; and positive regulation of apoptotic process involved in mammary gland involution. Predicted to be located in several cellular components, including T-tubule; nuclear lumen; and perinuclear region of cytoplasm. Predicted to be part of RNA polymerase II transcription regulator complex; chromatin; and receptor complex. Predicted to be active in nucleus. Predicted to colocalize with caveola. Is expressed in several structures, including alimentary system; metanephros; nervous system; sensory organ; and skeleton. Used to study osteoporosis and rickets. Human ortholog(s) of this gene implicated in several diseases, including autoimmune disease (multiple); carcinoma (multiple); liver disease (multiple); lung disease (multiple); and melanoma (multiple). Orthologous to human VDR (vitamin D receptor).
PHENOTYPE: Homozygous null mutants fail to thrive after weaning and may exhibit excess mortality. Postweaning mutant mice develop alopecia, hypocalcemia, infertility, and rickets. Mutant females exhibit uterine hypoplasia with impaired follicular development. [provided by MGI curators]
  • synonyms:
  • vitamin D (1,25-dihydroxyvitamin D3) receptor,
  • MGD-MRK-23940,
  • Nr1i1,
  • Vdr

Features --> Cross References

Genome

Sequence Feature Displayer

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0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

3 Involved In Mutations

0 Strain

0 Transcripts

0 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

13 Pathways

0 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

Mouse features --> Publications

 

Other

1 Driver For