NR4A3 nuclear receptor subfamily 4 group A member 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NR4A3provided by HGNC
Official Full Name: nuclear receptor subfamily 4 group A member 3provided by HGNC
Primary source: HGNC:HGNC:7982
See related: Ensembl:ENSG00000119508 MIM:600542; AllianceGenome:HGNC:7982
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: CHN; CSMF; NOR1; MINOR
Summary: This gene encodes a member of the steroid-thyroid hormone-retinoid receptor superfamily. The encoded protein may act as a transcriptional activator. The protein can efficiently bind the NGFI-B Response Element (NBRE). Three different versions of extraskeletal myxoid chondrosarcomas (EMCs) are the result of reciprocal translocations between this gene and other genes. The translocation breakpoints are associated with Nuclear Receptor Subfamily 4, Group A, Member 3 (on chromosome 9) and either Ewing Sarcome Breakpoint Region 1 (on chromosome 22), RNA Polymerase II, TATA Box-Binding Protein-Associated Factor, 68-KD (on chromosome 17), or Transcription factor 12 (on chromosome 15). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
Expression: Biased expression in adrenal (RPKM 28.0), urinary bladder (RPKM 16.9) and 13 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9q31.1

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (99821885..99866891)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (111993520..112038527)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (102584167..102629173)

Chromosome 9 - NC_000009.12 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.
RP11-495P10.1 promotes HCC cell proliferation by regulating reprogramming of glucose metabolism and acetylation of the NR4A3 promoter via the PDK1/PDH axis.
Title: RP11-495P10.1 promotes HCC cell proliferation by regulating reprogramming of glucose metabolism and acetylation of the NR4A3 promoter via the PDK1/PDH axis.
Upregulation of NOR-1 in calcified human vascular tissues: impact on osteogenic differentiation and calcification.
Title: Upregulation of NOR-1 in calcified human vascular tissues: impact on osteogenic differentiation and calcification.
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.
NRF1 Alleviated Oxidative Stress of Glioblastoma Cells by Regulating NOR1.
Title: NRF1 Alleviated Oxidative Stress of Glioblastoma Cells by Regulating NOR1.
Loss of NOR-1 represses muscle metabolism through mTORC1-mediated signaling and mitochondrial gene expression in C2C12 myotubes.
Title: Loss of NOR-1 represses muscle metabolism through mTORC1-mediated signaling and mitochondrial gene expression in C2C12 myotubes.
NR4A3 Expression Is Consistently Absent in Acinic Cell Carcinomas of the Breast: A Potential Nosologic Shift.
Title: NR4A3 Expression Is Consistently Absent in Acinic Cell Carcinomas of the Breast: A Potential Nosologic Shift.
NR4A3 fusions characterize a distinctive peritoneal mesothelial neoplasm of uncertain biological potential with pure adenomatoid/microcystic morphology.
Title: NR4A3 fusions characterize a distinctive peritoneal mesothelial neoplasm of uncertain biological potential with pure adenomatoid/microcystic morphology.
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.

Submit: New GeneRIF Correction See all GeneRIFs (111)

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
Extraskeletal myxoid chondrosarcoma MedGen: C1275278 OMIM: 612237 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
GWAS of dental caries patterns in the permanent dentition. 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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC133552P1 (e-PCR)
- UniSTS:270631

STS-X89894 (e-PCR)
- UniSTS:80688

NR4A3_2160 (e-PCR)
- UniSTS:280880

RH78307 (e-PCR)
- UniSTS:1402

RH93279 (e-PCR)
- UniSTS:86700

Nr4a3 (e-PCR), detects polymorphism
- UniSTS:256689

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	NAS Non-traceable Author Statement more info	PubMed
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
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 cAMP response element binding	ISS Inferred from Sequence or Structural Similarity more info
enables nuclear glucocorticoid receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables nuclear receptor activity	IEA Inferred from Electronic Annotation more info
enables nuclear steroid receptor activity	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in animal organ regeneration	IEA Inferred from Electronic Annotation more info
involved_in cellular respiration	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to catecholamine stimulus	ISS Inferred from Sequence or Structural Similarity more info
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
involved_in cellular response to leptin stimulus	ISS Inferred from Sequence or Structural Similarity more info
involved_in common myeloid progenitor cell proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in energy homeostasis	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 gastrulation	ISS Inferred from Sequence or Structural Similarity more info
involved_in intracellular receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in intracellular signal transduction	ISS Inferred from Sequence or Structural Similarity more info
involved_in mast cell degranulation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
involved_in platelet-derived growth factor receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cardiac muscle hypertrophy	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of epithelial cell proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of feeding behavior	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of glucose transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of mast cell activation by Fc-epsilon receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of mast cell cytokine production	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of monocyte aggregation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of smooth muscle cell proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of vascular associated smooth muscle cell migration	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of vascular associated smooth muscle cell proliferation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of smooth muscle cell proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of type B pancreatic cell proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in steroid hormone mediated signaling pathway	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of chromatin	ISA Inferred from Sequence Alignment 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	NAS Non-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 3

Names: chondrosarcoma, extraskeletal myxoid, fused to EWS; mitogen-induced nuclear orphan receptor; neuron-derived orphan receptor 1; nuclear hormone receptor NOR-1; translocated in extraskeletal chondrosarcoma

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_028910.1 RefSeqGene

Range

5031..50037

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_006981.4 → NP_008912.2 nuclear receptor subfamily 4 group A member 3 isoform a

See identical proteins and their annotated locations for NP_008912.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) lacks the exon containing the translational start site compared to variant 3. The resulting isoform (a) is shorter at the N-terminus compared to isoform b.

Source sequence(s)

AK226108, AL358937, S81243, U12767

Consensus CDS

CCDS6743.1

UniProtKB/Swiss-Prot

A2A3I7, Q12935, Q14979, Q16420, Q4VXA8, Q4VXA9, Q92570, Q9UEK2, Q9UEK3

Related

ENSP00000378531.2, ENST00000395097.7

Conserved Domains (2) summary

cd06969
Location:290 → 364

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

cl11397
Location:396 → 626

NR_LBD; The ligand binding domain of nuclear receptors, a family of ligand-activated transcription regulators
NM_173199.4 → NP_775291.1 nuclear receptor subfamily 4 group A member 3 isoform c

See identical proteins and their annotated locations for NP_775291.1

Status: REVIEWED

Description

Transcript Variant: This variant (4), also known as NOR-1alpha, lacks the exon containing the translational start site and differs in the 3' UTR and coding sequence compared to variant 3. The resulting isoform (c) is shorter at the N-terminus and has a shorter and distinct C-terminus compared to isoform b.

Source sequence(s)

AL359710

Consensus CDS

CCDS6744.1

UniProtKB/Swiss-Prot

Q92570

Related

ENSP00000340301.4, ENST00000338488.8

Conserved Domains (1) summary

cd06969
Location:290 → 364

NR_DBD_NGFI-B; DNA-binding domain of the orphan nuclear receptor, nerve growth factor-induced-B
NM_173200.3 → NP_775292.1 nuclear receptor subfamily 4 group A member 3 isoform b

See identical proteins and their annotated locations for NP_775292.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (b).

Source sequence(s)

AK226108, AL358937, S81243, U12767

Consensus CDS

CCDS6742.1

UniProtKB/Swiss-Prot

Q92570

Related

ENSP00000482027.1, ENST00000618101.4

Conserved Domains (2) summary

cd06969
Location:301 → 375

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

cl11397
Location:407 → 637

NR_LBD; The ligand binding domain of nuclear receptors, a family of ligand-activated transcription regulators

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_000009.12 Reference GRCh38.p14 Primary Assembly

Range

99821885..99866891

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017015162.2 → XP_016870651.1 nuclear receptor subfamily 4 group A member 3 isoform X1

UniProtKB/Swiss-Prot

A2A3I7, Q12935, Q14979, Q16420, Q4VXA8, Q4VXA9, Q92570, Q9UEK2, Q9UEK3

Conserved Domains (2) summary

cd06969
Location:290 → 364

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

cl11397
Location:396 → 626

NR_LBD; The ligand binding domain of nuclear receptors, a family of ligand-activated transcription regulators

Alternate T2T-CHM13v2.0

Genomic

NC_060933.1 Alternate T2T-CHM13v2.0

Range

111993520..112038527

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_173198.1: Suppressed sequence

Description

NM_173198.1: This RefSeq was permanently suppressed because it represents an unsupported variant with non-consensus splice sites.