Seroatlas · Human Serome Atlas

VDR

Vitamin D3 receptor

Also known as: NR1I1, PPP1R163, VDR_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
P11473
Gene
VDR
Ensembl
ENSG00000111424
Chromosome
12
Canonical length
427 aa
Protein class
Disease related genes, FDA approved drug targets, Human disease related genes, Nuclear receptors, Predicted intracellular proteins, Transcription factors, Transporters
Subcellular location
Nucleoplasm,Intermediate filaments,Cytosol
Quaternary structure
Homodimer

OverviewNCBI Gene

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. [provided by RefSeq, Jun 2018]

Canonical amino-acid sequenceUniProt

427 residues, UniProt reviewed canonical sequence.

>P11473|VDR
     1  MEAMAASTSL PDPGDFDRNV PRICGVCGDR ATGFHFNAMT CEGCKGFFRR SMKRKALFTC
    61  PFNGDCRITK DNRRHCQACR LKRCVDIGMM KEFILTDEEV QRKREMILKR KEEEALKDSL
   121  RPKLSEEQQR IIAILLDAHH KTYDPTYSDF CQFRPPVRVN DGGGSHPSRP NSRHTPSFSG
   181  DSSSSCSDHC ITSSDMMDSS SFSNLDLSEE DSDDPSVTLE LSQLSMLPHL ADLVSYSIQK
   241  VIGFAKMIPG FRDLTSEDQI VLLKSSAIEV IMLRSNESFT MDDMSWTCGN QDYKYRVSDV
   301  TKAGHSLELI EPLIKFQVGL KKLNLHEEEH VLLMAICIVS PDRPGVQDAA LIEAIQDRLS
   361  NTLQTYIRCR HPPPGSHLLY AKMIQKLADL RSLNEEHSKQ YRCLSFQPEC SMKLTPLVLE
   421  VFGNEIS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against VDR can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.36
Highest tissue expression
222 nTPM

Expression across tissuesHPA

Tissue

  • parathyroid gland: 222 nTPM
  • duodenum: 53 nTPM
  • small intestine: 52 nTPM
  • colon: 38 nTPM
  • rectum: 33 nTPM
  • skin: 22 nTPM

Single-cell type

  • breast lactating cells: 329 nCPM
  • distal convoluted tubule cells: 211 nCPM
  • colonocytes: 182 nCPM
  • paneth cells: 170 nCPM
  • neutrophils: 168 nCPM
  • enterocytes: 160 nCPM

Immune cell

  • non-classical monocyte: 6.7 nTPM
  • neutrophil: 6.6 nTPM
  • intermediate monocyte: 6.5 nTPM
  • myeloid DC: 5.1 nTPM
  • classical monocyte: 3.5 nTPM
  • eosinophil: 1.9 nTPM

Brain region

  • thalamus: 3.3 nTPM
  • choroid plexus: 2.1 nTPM
  • hypothalamus: 1.8 nTPM
  • medulla oblongata: 1.8 nTPM
  • pons: 1.7 nTPM
  • cerebral cortex: 1.6 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about VDR.

Disease | AllUniProt

Conditions VDR is implicated in, by any mechanism.

  • Rickets vitamin D-dependent 2A (VDDR2A) MIM:277440

Disease | GeneticClinVar

40 pathogenic / likely-pathogenic of 569 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.88
gnomAD pLI
0
gnomAD missense Z
1.06
DepMap mean gene effect
-0.07
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of VDR in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads VDR as an antibody target. Whether an autoantibody or antibody against VDR could matter depends on whether native VDR is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

VDR is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label VDR as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/VDR. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

© 2026 · Seroatlas, Discover Oregon LLC · Terms of use

Loading the interactive Seroatlas protein explorer...