NR4A2

Developmental stage

Rapidly and only very transiently expressed after cell activation, during the G0-G1 transition of the cell cycle.

Domain

The ligand-binding domain (LBD) contains no cavity as a result of the tight packing of side chains from several bulky hydrophobic residues in the region normally occupied by ligands. NR4A2 lacks a 'classical' binding site for coactivators (PubMed:12774125).

Function

Transcriptional regulator which is important for the differentiation and maintenance of meso-diencephalic dopaminergic (mdDA) neurons during development (PubMed:15716272, PubMed:17184956). It is crucial for expression of a set of genes such as SLC6A3, SLC18A2, TH and DRD2 which are essential for development of mdDA neurons (By similarity).

Involvement in disease

Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism

IDLDP

An autosomal dominant disorder characterized by global developmental delay affecting motor, cognitive, and speech domains apparent in early childhood or infancy. Most patients also show movement abnormalities, often hypotonia with later development of dopa-responsive dystonia or parkinsonism. About half of patients develop various types of seizures.

None

The disease is caused by variants affecting the gene represented in this entry.

Sequence Similarities

Belongs to the nuclear hormone receptor family. NR4 subfamily.

Tissue Specificity

Expressed in a number of cell lines of T-cell, B-cell and fibroblast origin. Strong expression in brain tissue.

Cellular localization

• Cytoplasm
• Nucleus
• Mostly nuclear; oxidative stress promotes cytoplasmic localization.

Alternative names

NOT, NURR1, TINUR, NR4A2, Nuclear receptor subfamily 4 group A member 2, Immediate-early response protein NOT, Orphan nuclear receptor NURR1, Transcriptionally-inducible nuclear receptor

Database links

swissprot:P43354 entrezGene:4929 omim:601828

Other research areas

• Immuno-oncology
• Neuroscience