Seroatlas · Human Serome Atlas

NR2E3

Photoreceptor-specific nuclear receptor

Also known as: NR2E3_HUMAN, PNR, rd7, RP37

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

Protein identityUniProt · HPA

UniProt accession
Q9Y5X4
Gene
NR2E3
Ensembl
ENSG00000278570
Chromosome
15
Canonical length
410 aa
Protein class
Disease related genes, Human disease related genes, Nuclear receptors, Predicted intracellular proteins, Transcription factors
Quaternary structure
Homodimer

OverviewNCBI Gene

This protein is part of a large family of nuclear receptor transcription factors involved in signaling pathways. Nuclear receptors have been shown to regulate pathways involved in embryonic development, as well as in maintenance of proper cell function in adults. Members of this family are characterized by discrete domains that function in DNA and ligand binding. This gene encodes a retinal nuclear receptor that is a ligand-dependent transcription factor. Defects in this gene are a cause of enhanced S cone syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

410 residues, UniProt reviewed canonical sequence.

>Q9Y5X4|NR2E3
     1  METRPTALMS STVAAAAPAA GAASRKESPG RWGLGEDPTG VSPSLQCRVC GDSSSGKHYG
    61  IYACNGCSGF FKRSVRRRLI YRCQVGAGMC PVDKAHRNQC QACRLKKCLQ AGMNQDAVQN
   121  ERQPRSTAQV HLDSMESNTE SRPESLVAPP APAGRSPRGP TPMSAARALG HHFMASLITA
   181  ETCAKLEPED ADENIDVTSN DPEFPSSPYS SSSPCGLDSI HETSARLLFM AVKWAKNLPV
   241  FSSLPFRDQV ILLEEAWSEL FLLGAIQWSL PLDSCPLLAP PEASAAGGAQ GRLTLASMET
   301  RVLQETISRF RALAVDPTEF ACMKALVLFK PETRGLKDPE HVEALQDQSQ VMLSQHSKAH
   361  HPSQPVRFGK LLLLLPSLRF ITAERIELLF FRKTIGNTPM EKLLCDMFKN

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NR2E3 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)
0.42
Highest tissue expression
122 nTPM

Expression across tissuesHPA

Tissue

  • retina: 122 nTPM
  • prostate: 0.9 nTPM
  • testis: 0.6 nTPM
  • kidney: 0.5 nTPM
  • stomach: 0.5 nTPM
  • thyroid gland: 0.5 nTPM

Single-cell type

  • rod photoreceptor cells: 862 nCPM
  • epicardial cells: 21 nCPM
  • retinal ganglion cells: 16 nCPM
  • prostatic glandular cells: 15 nCPM
  • retinal bipolar cells: 13 nCPM
  • müller glia: 11 nCPM

Immune cell

  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM
  • MAIT T-cell: 0 nTPM

Brain region

  • cerebral cortex: 1.9 nTPM
  • basal ganglia: 1.6 nTPM
  • cerebellum: 1.5 nTPM
  • amygdala: 1.3 nTPM
  • thalamus: 1.3 nTPM
  • hippocampal formation: 1.2 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NR2E3.

Disease | AllUniProt

Conditions NR2E3 is implicated in, by any mechanism.

Disease | GeneticClinVar

153 pathogenic / likely-pathogenic of 862 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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 NR2E3 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 NR2E3 as an antibody target. Whether an autoantibody or antibody against NR2E3 could matter depends on whether native NR2E3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

NR2E3 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 NR2E3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/NR2E3. 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).

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