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

Gene ID: 8013, updated on 12-Aug-2018

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; Vega:OTTHUMG00000021030
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; TEC; 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

Genomic context

See NR4A3 in Genome Data Viewer
Location:
9q31.1
Exon count:
10
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 9 NC_000009.12 (99821855..99866893)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (102584137..102629173)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107987012 Neighboring gene uncharacterized LOC101928438 Neighboring gene STX17 antisense RNA 1 Neighboring gene syntaxin 17

Genomic regions, transcripts, and products

Expression

  • 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Epithelial-myoepithelial carcinoma
MedGen: C1275278 OMIM: 612237 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
GWAS of dental caries patterns in the permanent dentition.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding NAS
Non-traceable Author Statement
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific ISM
Inferred from Sequence Model
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific NAS
Non-traceable Author Statement
more info
PubMed 
RNA polymerase II proximal promoter sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
RNA polymerase II regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cAMP response element binding ISS
Inferred from Sequence or Structural Similarity
more info
 
glucocorticoid receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glucocorticoid receptor binding IEA
Inferred from Electronic Annotation
more info
 
histone acetyltransferase binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity ISS
Inferred from Sequence or Structural Similarity
more info
 
protein kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
PubMed 
sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
steroid hormone receptor activity IEA
Inferred from Electronic Annotation
more info
 
thyroid hormone receptor activity TAS
Traceable Author Statement
more info
PubMed 
transcription coactivator binding IEA
Inferred from Electronic Annotation
more info
 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
adult behavior IEA
Inferred from Electronic Annotation
more info
 
animal organ regeneration IEA
Inferred from Electronic Annotation
more info
 
axon guidance IEA
Inferred from Electronic Annotation
more info
 
cellular respiration ISS
Inferred from Sequence or Structural Similarity
more info
 
cellular response to catecholamine stimulus ISS
Inferred from Sequence or Structural Similarity
more info
 
cellular response to corticotropin-releasing hormone stimulus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular response to corticotropin-releasing hormone stimulus ISS
Inferred from Sequence or Structural Similarity
more info
 
cellular response to leptin stimulus ISS
Inferred from Sequence or Structural Similarity
more info
 
common myeloid progenitor cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
energy homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
fat cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
gastrulation ISS
Inferred from Sequence or Structural Similarity
more info
 
hippocampus development IEA
Inferred from Electronic Annotation
more info
 
intracellular receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
mast cell degranulation ISS
Inferred from Sequence or Structural Similarity
more info
 
mesoderm formation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of hydrogen peroxide-induced neuron death ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of neuron apoptotic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
neuromuscular process controlling balance IEA
Inferred from Electronic Annotation
more info
 
platelet-derived growth factor receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cardiac muscle hypertrophy ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of cell cycle IEA
Inferred from Electronic Annotation
more info
 
positive regulation of epithelial cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of fatty acid oxidation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of feeding behavior ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of glucose transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of leukocyte apoptotic process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of mast cell activation by Fc-epsilon receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of mast cell cytokine production ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of monocyte aggregation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of smooth muscle cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of vascular associated smooth muscle cell migration IGI
Inferred from Genetic Interaction
more info
PubMed 
positive regulation of vascular smooth muscle cell proliferation IGI
Inferred from Genetic Interaction
more info
PubMed 
pyruvate oxidation ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of megakaryocyte differentiation TAS
Traceable Author Statement
more info
 
regulation of smooth muscle cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
regulation of type B pancreatic cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
response to hydrogen peroxide IEA
Inferred from Electronic Annotation
more info
 
semicircular canal morphogenesis IEA
Inferred from Electronic Annotation
more info
 
steroid hormone mediated signaling pathway IEA
Inferred from Electronic Annotation
more info
 
transcription initiation from RNA polymerase II promoter TAS
Traceable Author Statement
more info
 
vestibular reflex IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
mast cell granule IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus NAS
Non-traceable Author Statement
more info
PubMed 
transcription factor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription factor complex IEA
Inferred from Electronic Annotation
more info
 

General protein information

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)

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

  1. NG_028910.1 RefSeqGene

    Range
    5001..50037
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_006981.3NP_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, D78579, S81243, U12767
    Consensus CDS
    CCDS6743.1
    UniProtKB/Swiss-Prot
    Q92570
    UniProtKB/TrEMBL
    A0A024R168
    Related
    ENSP00000378531.2, OTTHUMP00000022774, ENST00000395097.6, OTTHUMT00000055482
    Conserved Domains (2) summary
    cd06969
    Location:290364
    NR_DBD_NGFI-B; DNA-binding domain of the orphan nuclear receptor, nerve growth factor-induced-B
    cl11397
    Location:396626
    NR_LBD; The ligand binding domain of nuclear receptors, a family of ligand-activated transcription regulators
  2. NM_173199.2NP_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, D78579, S81243, X89894
    Consensus CDS
    CCDS6744.1
    UniProtKB/Swiss-Prot
    Q92570
    Related
    ENSP00000340301.4, OTTHUMP00000022775, ENST00000338488.8, OTTHUMT00000055483
    Conserved Domains (1) summary
    cd06969
    Location:290364
    NR_DBD_NGFI-B; DNA-binding domain of the orphan nuclear receptor, nerve growth factor-induced-B
  3. NM_173200.2NP_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, D78579, S81243, U12767
    Consensus CDS
    CCDS6742.1
    UniProtKB/Swiss-Prot
    Q92570
    Related
    ENSP00000482027.1, ENST00000618101.4
    Conserved Domains (2) summary
    cd06969
    Location:301375
    NR_DBD_NGFI-B; DNA-binding domain of the orphan nuclear receptor, nerve growth factor-induced-B
    cl11397
    Location:407637
    NR_LBD; The ligand binding domain of nuclear receptors, a family of ligand-activated transcription regulators

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p12 Primary Assembly

    Range
    99821855..99866893
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    UniProtKB/Swiss-Prot
    Q92570
    UniProtKB/TrEMBL
    A0A024R168
    Conserved Domains (2) summary
    cd06969
    Location:290364
    NR_DBD_NGFI-B; DNA-binding domain of the orphan nuclear receptor, nerve growth factor-induced-B
    cl11397
    Location:396626
    NR_LBD; The ligand binding domain of nuclear receptors, a family of ligand-activated transcription regulators

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. 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.
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