NR4A2

Chr 2q24.1

nuclear receptor subfamily 4 group A member 2

Aliases:: TINUR, NOT, RNR1, HZF-3
MANE:: ENST00000339562.9

OMIM: 601828 ↗NCBI: 4929 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

NR4A2 · P43354

v62025-08-01

Predicted Aligned Error matrix for NR4A2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

66.0/ 100

Low

598 residues

Confidence breakdown

Very high(≥ 90)41%
Confident(70–90)8%
Low(50–70)5%
Very low(< 50)46%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder
BIALLELIC, autosomal or pseudoautosomal
Adult onset dystonia, chorea or related movement disorder
BIALLELIC, autosomal or pseudoautosomal
Parkinson Disease and Complex Parkinsonism
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
0.75
neurodevelopmental disorder
0.46
Parkinson disease
0.45
complex neurodevelopmental disorder
0.44
late-onset Parkinson disease
0.42
Hereditary late-onset Parkinson disease
0.42
hereditary disease
0.41
autosomal dominant dopa-responsive dystonia
0.37
prostatitis
0.31
drug allergy
0.31

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Nuclear receptor subfamily 4 group A member 2

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)