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

    Gene ID: 8013, updated on 27-Nov-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See NR4A3 in Genome Data Viewer
    Location:
    9q31.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (99821885..99866891)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (111993520..112038527)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (102584167..102629173)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107987012 Neighboring gene uncharacterized LOC101928438 Neighboring gene uncharacterized LOC124902234 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr9:102431793-102432372 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr9:102437510-102438010 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28714 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28715 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:102581295-102581888 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:102581889-102582482 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20129 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:102584885-102585397 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20130 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr9:102595258-102596457 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20131 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28716 Neighboring gene STX17 divergent transcript Neighboring gene NANOG hESC enhancer GRCh37_chr9:102678782-102679392 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Extraskeletal myxoid chondrosarcoma
    MedGen: C1275278 OMIM: 612237 GeneReviews: Not available
    not available

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 TAS
    Traceable Author Statement
    more info
    PubMed 
    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 D-glucose transmembrane transport 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 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 receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in 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

    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)

    NEW Try the new Transcript table

    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
      5031..50037
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_006981.4NP_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: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_173199.4NP_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:290364
      NR_DBD_NGFI-B; DNA-binding domain of the orphan nuclear receptor, nerve growth factor-induced-B
    3. NM_173200.3NP_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: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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      99821885..99866891
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017015162.2XP_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: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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      111993520..112038527
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    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.