NR4A2 nuclear receptor subfamily 4 group A member 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NR4A2provided by HGNC
Official Full Name: nuclear receptor subfamily 4 group A member 2provided by HGNC
Primary source: HGNC:HGNC:7981
See related: Ensembl:ENSG00000153234 MIM:601828; AllianceGenome:HGNC:7981
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: NOT; RNR1; HZF-3; IDLDP; NURR1; TINUR
Summary: This gene encodes a member of the steroid-thyroid hormone-retinoid receptor superfamily. The encoded protein may act as a transcription factor. Mutations in this gene have been associated with disorders related to dopaminergic dysfunction, including Parkinson disease, schizophernia, and manic depression. Misregulation of this gene may be associated with rheumatoid arthritis. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
Expression: Broad expression in adrenal (RPKM 41.8), bone marrow (RPKM 25.5) and 15 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q24.1

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (156324437..156332721, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (156777128..156785409, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (157180949..157189233, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Orphan Nuclear Receptor Family 4A (NR4A) Members NR4A2 and NR4A3 Selectively Modulate Elements of the Monocyte Response to Buffered Hypercapnia.
Title: Orphan Nuclear Receptor Family 4A (NR4A) Members NR4A2 and NR4A3 Selectively Modulate Elements of the Monocyte Response to Buffered Hypercapnia.
The nuclear receptor Nurr1 is preferentially expressed in human pro-inflammatory macrophages and limits their inflammatory profile.
Title: The nuclear receptor Nurr1 is preferentially expressed in human pro-inflammatory macrophages and limits their inflammatory profile.
A role of NR4A2 in Graves' disease: regulation of Th17/Treg.
Title: A role of NR4A2 in Graves' disease: regulation of Th17/Treg.
Evaluation of mRNA Expressions of TOX and NR4As in CD8+ T cells in Acute Leukemia.
Title: Evaluation of mRNA Expressions of TOX and NR4As in CD8+ T cells in Acute Leukemia.
Nuclear Receptor 4A2 (NR4A2/NURR1) Regulates Autophagy and Chemoresistance in Pancreatic Ductal Adenocarcinoma.
Title: Nuclear Receptor 4A2 (NR4A2/NURR1) Regulates Autophagy and Chemoresistance in Pancreatic Ductal Adenocarcinoma.
Mechanisms of NURR1 Regulation: Consequences for Its Biological Activity and Involvement in Pathology.
Title: Mechanisms of NURR1 Regulation: Consequences for Its Biological Activity and Involvement in Pathology.
A minority of cases of acinic cell carcinoma of the salivary glands are driven by an NR4A2 rearrangement: the diagnostic utility of the assessment of NR4A2 and NR4A3 alterations in salivary gland tumors.
Title: A minority of cases of acinic cell carcinoma of the salivary glands are driven by an NR4A2 rearrangement: the diagnostic utility of the assessment of NR4A2 and NR4A3 alterations in salivary gland tumors.
Nuclear Receptor Subfamily 4A Signaling as a Key Disease Pathway of CD1c+ Dendritic Cell Dysregulation in Systemic Sclerosis.
Title: Nuclear Receptor Subfamily 4A Signaling as a Key Disease Pathway of CD1c+ Dendritic Cell Dysregulation in Systemic Sclerosis.
The lncRNA LUCAT1 is elevated in inflammatory disease and restrains inflammation by regulating the splicing and stability of NR4A2.
Title: The lncRNA LUCAT1 is elevated in inflammatory disease and restrains inflammation by regulating the splicing and stability of NR4A2.
A Proposed TUSC7/miR-211/Nurr1 ceRNET Might Potentially be Disturbed by a cer-SNP rs2615499 in Breast Cancer.
Title: A Proposed TUSC7/miR-211/Nurr1 ceRNET Might Potentially be Disturbed by a cer-SNP rs2615499 in Breast Cancer.

Submit: New GeneRIF Correction See all GeneRIFs (167)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism MedGen: C5677001 OMIM: 619911 GeneReviews: Not available	not available
Parkinson disease, late-onset MedGen: C3160718 OMIM: 168600 GeneReviews: Parkinson Disease Overview, Gaucher Disease	Compare labs

Copy number response

Description
Copy number response Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2022-09-27) ClinGen Genome Curation PagePubMed Triplosensitivity No evidence available (Last evaluated 2022-09-27) ClinGen Genome Curation Page

EBI GWAS Catalog

Description
Genome-wide association of lipid-lowering response to statins in combined study populations. EBI GWAS Catalog EBI GWAS CatalogPubMed
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. EBI GWAS Catalog EBI GWAS CatalogPubMed
Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of nuclear receptor subfamily 4, group A, member 2 (NR4A2) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Vif	vif	HIV-1 Vif upregulates the expression of nuclear receptor subfamily 4, group A, member 2 (NR4A2) in Vif-expression T cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Nr4a2 (e-PCR), detects polymorphism
- UniSTS:507412

D2S2729 (e-PCR)
- UniSTS:1583

PMC109903P2 (e-PCR)
- UniSTS:270181

G15958 (e-PCR)
- UniSTS:47277

Nr4a2 (e-PCR), detects polymorphism
- UniSTS:536540

Nr4a2 (e-PCR), detects polymorphism
- UniSTS:546539

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	TAS Traceable Author Statement more info	PubMed
enables DNA-binding transcription activator activity, RNA polymerase II-specific	ISS Inferred from Sequence or Structural Similarity more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables beta-catenin binding	TAS Traceable Author Statement more info	PubMed
enables nuclear glucocorticoid receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables nuclear receptor activity	TAS Traceable Author Statement more info	PubMed
enables nuclear retinoid X receptor binding	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein heterodimerization activity	ISS Inferred from Sequence or Structural Similarity more info
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in adult locomotory behavior	IEA Inferred from Electronic Annotation more info
involved_in canonical Wnt signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in cellular response to corticotropin-releasing hormone stimulus	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to corticotropin-releasing hormone stimulus	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within cellular response to extracellular stimulus	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to oxidative stress	IEA Inferred from Electronic Annotation more info
involved_in central nervous system neuron differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in central nervous system projection neuron axonogenesis	IEA Inferred from Electronic Annotation more info
involved_in dopamine biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in dopaminergic neuron differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in dopaminergic neuron differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in fat cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in general adaptation syndrome	IEA Inferred from Electronic Annotation more info
involved_in habenula development	IEA Inferred from Electronic Annotation more info
involved_in intracellular receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in midbrain dopaminergic neuron differentiation	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of apoptotic signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of neuron apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	TAS Traceable Author Statement more info	PubMed
involved_in neuron apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in neuron maturation	IEA Inferred from Electronic Annotation more info
involved_in neuron migration	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of transcription by RNA polymerase II	TAS Traceable Author Statement more info	PubMed
involved_in post-embryonic development	IEA Inferred from Electronic Annotation more info
involved_in regulation of dopamine metabolic process	IEA Inferred from Electronic Annotation more info
involved_in regulation of respiratory gaseous exchange	IEA Inferred from Electronic Annotation more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to amphetamine	IEA Inferred from Electronic Annotation more info
involved_in response to hypoxia	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	NAS Non-traceable Author Statement more info	PubMed
involved_in transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of chromatin	ISA Inferred from Sequence Alignment more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in nuclear speck	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	TAS Traceable Author Statement more info	PubMed
part_of protein-containing complex	TAS Traceable Author Statement more info	PubMed
part_of transcription regulator complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: nuclear receptor subfamily 4 group A member 2

Names: NGFI-B/nur77 beta-type transcription factor homolog; T-cell nuclear receptor NOT; immediate-early response protein NOT; intermediate-early receptor protein; nuclear receptor related 1; nur related protein-1, human homolog of; orphan nuclear receptor NR4A2; orphan nuclear receptor NURR1; transcriptionally inducible nuclear receptor related 1; transcriptionally-inducible nuclear receptor

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_011821.2 RefSeqGene

Range

5000..13284

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_006186.4 → NP_006177.1 nuclear receptor subfamily 4 group A member 2 isoform a

See identical proteins and their annotated locations for NP_006177.1

Status: REVIEWED

Source sequence(s)

AC074099

Consensus CDS

CCDS2201.1

UniProtKB/Swiss-Prot

P43354, Q16311, Q53RZ2, Q6NXU0

UniProtKB/TrEMBL

F1D8N6, Q53EL4

Related

ENSP00000344479.4, ENST00000339562.9

Conserved Domains (2) summary

cd07071
Location:361 → 598

NR_LBD_Nurr1; The ligand binding domain of Nurr1, a member of conserved family of nuclear receptors

cd06969
Location:261 → 335

NR_DBD_NGFI-B; DNA-binding domain of the orphan nuclear receptor, nerve growth factor-induced-B
NM_173173.3 → NP_775265.1 nuclear receptor subfamily 4 group A member 2 isoform d

Status: REVIEWED

Source sequence(s)

AC074099

Consensus CDS

CCDS86887.1

UniProtKB/TrEMBL

A0A8V8TR19

Related

ENSP00000389986.1, ENST00000426264.5

Conserved Domains (2) summary

cd07071
Location:298 → 535

NR_LBD_Nurr1; The ligand binding domain of Nurr1, a member of conserved family of nuclear receptors

cd06969
Location:198 → 272

NR_DBD_NGFI-B; DNA-binding domain of the orphan nuclear receptor, nerve growth factor-induced-B

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

156324437..156332721 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006712553.5 → XP_006712616.1 nuclear receptor subfamily 4 group A member 2 isoform X2

UniProtKB/TrEMBL

B7Z5U7

Conserved Domains (2) summary

cd06969
Location:272 → 346

NR_DBD_NGFI-B; DNA-binding domain of the orphan nuclear receptor, nerve growth factor-induced-B

cl11397
Location:373 → 584

NR_LBD; The ligand binding domain of nuclear receptors, a family of ligand-activated transcription regulators
XM_011511246.3 → XP_011509548.1 nuclear receptor subfamily 4 group A member 2 isoform X4

UniProtKB/TrEMBL

F8W6I3

Related

ENSP00000386993.2, ENST00000409108.6

Conserved Domains (2) summary

cd06969
Location:272 → 346

NR_DBD_NGFI-B; DNA-binding domain of the orphan nuclear receptor, nerve growth factor-induced-B

cl11397
Location:378 → 488

NR_LBD; The ligand binding domain of nuclear receptors, a family of ligand-activated transcription regulators
XM_005246621.5 → XP_005246678.1 nuclear receptor subfamily 4 group A member 2 isoform X1

UniProtKB/TrEMBL

B7Z5U7

Conserved Domains (2) summary

cd07071
Location:372 → 609

NR_LBD_Nurr1; The ligand binding domain of Nurr1, a member of conserved family of nuclear receptors

cd06969
Location:272 → 346

NR_DBD_NGFI-B; DNA-binding domain of the orphan nuclear receptor, nerve growth factor-induced-B
XM_047444554.1 → XP_047300510.1 nuclear receptor subfamily 4 group A member 2 isoform X3

UniProtKB/TrEMBL

F1DAL2
XM_047444551.1 → XP_047300507.1 nuclear receptor subfamily 4 group A member 2 isoform X8

UniProtKB/Swiss-Prot

P43354, Q16311, Q53RZ2, Q6NXU0

UniProtKB/TrEMBL

F1D8N6
XM_047444558.1 → XP_047300514.1 nuclear receptor subfamily 4 group A member 2 isoform X6

Related

ENSP00000514865.1, ENST00000700228.1
XM_047444555.1 → XP_047300511.1 nuclear receptor subfamily 4 group A member 2 isoform X3

UniProtKB/TrEMBL

F1DAL2

Related

ENSP00000514868.1, ENST00000700231.1
XM_047444557.1 → XP_047300513.1 nuclear receptor subfamily 4 group A member 2 isoform X5
XM_047444559.1 → XP_047300515.1 nuclear receptor subfamily 4 group A member 2 isoform X7

Related

ENSP00000415632.1, ENST00000417764.5

Alternate T2T-CHM13v2.0

Genomic

NC_060926.1 Alternate T2T-CHM13v2.0

Range

156777128..156785409 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054342297.1 → XP_054198272.1 nuclear receptor subfamily 4 group A member 2 isoform X2
XM_054342299.1 → XP_054198274.1 nuclear receptor subfamily 4 group A member 2 isoform X4
XM_054342296.1 → XP_054198271.1 nuclear receptor subfamily 4 group A member 2 isoform X1
XM_054342301.1 → XP_054198276.1 nuclear receptor subfamily 4 group A member 2 isoform X6
XM_054342298.1 → XP_054198273.1 nuclear receptor subfamily 4 group A member 2 isoform X3
XM_054342300.1 → XP_054198275.1 nuclear receptor subfamily 4 group A member 2 isoform X5
XM_054342302.1 → XP_054198277.1 nuclear receptor subfamily 4 group A member 2 isoform X7

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_173171.1: Suppressed sequence

Description

NM_173171.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
NM_173172.1: Suppressed sequence

Description

NM_173172.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.