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NR4A3 (nuclear receptor subfamily 4, group A, member 3)

Identity

Other namesTEC
NR4A3
NOR1
MINOR
CSMF
CHN
HGNC (Hugo) NR4A3
LocusID (NCBI) 8013
Location 9q22
Location_base_pair Starts at 102584137 and ends at 102629173 bp from pter ( according to hg19-Feb_2009)  [Mapping]

DNA/RNA

Description spans about 46 kb; 9 exons
Transcription four transcript variants (6382 bp, 5635 bp, 4983bp and 2588 bp)

Protein

Description three isoforms (637 aa, 626 aa and 443 aa); N-terminal activation domain; central bipartite zinc finger DNA-binding domain; C-terminal ligand binding domain.
Expression most tissues, highest expression levels in the central nervous system.
Localisation nuclear
Function orphan nuclear receptor; implicated in the control of cell proliferation as an immediate-early protein and in differentiation and apoptosis; binds as a monomer to the DNA-response element NBRE; activate transcription constitutively when bound to NBRE; the homeotic protein Six3 is a coactivator of TEC.
Homology belongs to the steroid/thyroid receptor gene super family; highly homologous to the nuclear receptors NGFI-B and NURR1.

Implicated in

Entity Extraskeletal myxoid chondrosarcoma with t(9;22)(q22;q12).
Disease rare type of sarcoma (2.3% of all soft tissue sarcomas) characteristically involving the deep, soft tissues of the extremities; morphological resemblance to embryonic cartilage.
Hybrid/Mutated Gene EWSR1-TEC
Abnormal Protein N-terminal transactivation domain of EWSR1 fused to the entire TEC protein.
  
Entity Extraskeletal myxoid chondrosarcoma with t(9;17)(q22;q11).
Disease rare type of sarcoma (2.3% of all soft tissue sarcomas) characteristically involving the deep, soft tissues of the extremities; morphological resemblance to embryonic cartilage.
Hybrid/Mutated Gene TAF2N-TEC
Abnormal Protein N-terminal transactivation domain of TAF2N fused to the entire TEC protein.
  
Entity Extraskeletal myxoid chondrosarcoma with t(9;15)(q22;q21).
Disease rare type of sarcoma (2.3% of all soft tissue sarcomas) characteristically involving the deep, soft tissues of the extremities; morphological resemblance to embryonic cartilage.
Hybrid/Mutated Gene TCF12-TEC
Abnormal Protein N-terminal domain of TCF12 fused to the entire TEC protein; the N-terminal of TCF12 shows no sequence homology to the N-terminals of EWSR1 or TAF2N.
  

Breakpoints

 

External links

Nomenclature
HGNC (Hugo)NR4A3   7982
Entrez_Gene (NCBI)NR4A3  8013  nuclear receptor subfamily 4, group A, member 3
Cards
AtlasTECID75
GeneCards (Weizmann)NR4A3
Ensembl (Hinxton)ENSG00000119508 [Gene_View]  chr9:102584137-102629173 [Contig_View]  NR4A3 [Vega]
AceView (NCBI)NR4A3
Genatlas (Paris)NR4A3
euGene (Indiana)8013
SOURCE (Stanford)NM_006981 NM_173198 NM_173199 NM_173200
Genomic and cartography
GoldenPath (UCSC)NR4A3  -  9q22   chr9:102584137-102629173 +  9q22   [Description]    (hg19-Feb_2009)
EnsemblNR4A3 - 9q22 [CytoView]
Mapping of homologs : NCBINR4A3 [Mapview]
OMIM600542   612237   
Gene and transcription
Genbank (Entrez)AK226108 BX649089 D78579 D85241 D85242
RefSeq transcript (SRS)NM_006981 NM_173198 NM_173199 NM_173200
RefSeq transcript (Entrez)NM_006981 NM_173198 NM_173199 NM_173200
RefSeq genomic (SRS)AC_000141 NC_000009 NG_028910 NT_008470 NW_001839236
RefSeq genomic (Entrez)AC_000141 NC_000009 NG_028910 NT_008470 NW_001839236
Consensus coding sequences : CCDS (NCBI)NR4A3
Cluster EST : UnigeneHs.279522 [ SRS ] Hs.279522 [ NCBI ]
Alternative Splicing : Fast-db (Paris)11913
Alternative Splicing GalleryENSG00000119508
Gene ExpressionNR4A3 [ NCBI-GEO ]   NR4A3 [ EBI - ARRAY_EXPRESS ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ92570 (SRS) Q92570 (Uniprot)
With graphics : InterProQ92570
Splice isoforms : SwissVarQ92570(Swissvar)
Domaine pattern : Prosite (SRS)NUCLEAR_REC_DBD_1 (PS00031)    NUCLEAR_REC_DBD_2 (PS51030)   
Domaine pattern : Prosite (Expaxy)NUCLEAR_REC_DBD_1 (PS00031)    NUCLEAR_REC_DBD_2 (PS51030)   
Domains : Interpro (SRS)NOR1_rcpt    Nuc_orph_rcpt    Nucl_hormone_rcpt_ligand-bd    Nucl_hrmn_rcpt_lig-bd_core    Str_hrmn_rcpt    Znf_hrmn_rcpt    Znf_NHR/GATA   
Domains : Interpro (EBI)NOR1_rcpt    Nuc_orph_rcpt    Nucl_hormone_rcpt_ligand-bd    Nucl_hrmn_rcpt_lig-bd_core    Str_hrmn_rcpt    Znf_hrmn_rcpt    Znf_NHR/GATA   
Related proteins : CluSTrQ92570
Domain families : Pfam (SRS)Hormone_recep (PF00104)    zf-C4 (PF00105)   
Domain families : Pfam (Sanger)Hormone_recep (PF00104)    zf-C4 (PF00105)   
Domain families : Pfam (NCBI)pfam00104    pfam00105   
Domain families : Smart (EMBL)HOLI (SM00430)  ZnF_C4 (SM00399)  
Blocks (Seattle)Q92570
Human Protein AtlasENSG00000119508
HPRD02766
IPIIPI00328269   IPI00293038   IPI00334557   IPI00748100   
Protein Interaction databases
DIP (DOE-UCLA)Q92570
IntAct (EBI)Q92570
FunCoupENSG00000119508
REACTOMENR4A3
BioGRIDNR4A3
InParanoidQ92570
Interologous Interaction database Q92570
Polymorphism : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)NR4A3
SNP (GeneSNP Utah)NR4A3
SNP : HGBaseNR4A3
Genetic variants : HAPMAPNR4A3
Cancer Gene: CensusNR4A3 
Somatic Mutations in Cancer : COSMICNR4A3 
CONAN: Copy Number AnalysisNR4A3 
Rearrangement : COSMICEWSR1 [22q12.2]  -  NR4A3 [9q22.33]
Rearrangement : COSMICNR4A3 [9q22.33]  -  EWSR1 [22q12.2]
Rearrangement : COSMICNR4A3 [9q22.33]  -  TAF15 [17q12]
Rearrangement : COSMICTAF15 [17q12]  -  NR4A3 [9q22.33]
Translocation Breakpoints in Cancer : TICdbNR4A3 
Mutations and Diseases : HGMDNR4A3
OMIM600542    612237   
GENETests600542    612237   
Disease Genetic AssociationNR4A3
Huge Navigator NR4A3 [HugePedia]  NR4A3 [HugeCancerGEM]
Genomic VariantsNR4A3
snp3D : Map Gene to Disease8013
General knowledge
Homologs : HomoloGeneNR4A3
Homology/Alignments : Family Browser (UCSC)NR4A3
Phylogenetic Trees/Animal Genes : TreeFamNR4A3
Chemical/Protein Interactions : CTD8013
Chemical/Pharm GKB GenePA31763
Clinical trialNR4A3
Cancer Resource (Charite)ENSG00000119508
Ontology : AmiGORNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription  mesoderm formation  DNA binding  sequence-specific DNA binding transcription factor activity  steroid hormone receptor activity  receptor activity  thyroid hormone receptor activity  binding  nucleus  nucleoplasm  transcription factor complex  axon guidance  biological_process  zinc ion binding  gene expression  hippocampus development  adult behavior  organ regeneration  cellular response to stress  steroid hormone mediated signaling pathway  response to peptide hormone stimulus  negative regulation of neuron apoptosis  sequence-specific DNA binding  positive regulation of cell cycle  metal ion binding  semicircular canal morphogenesis  neuromuscular process controlling balance  vestibular reflex  positive regulation of leukocyte apoptosis  
Ontology : EGO-EBIRNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription  mesoderm formation  DNA binding  sequence-specific DNA binding transcription factor activity  steroid hormone receptor activity  receptor activity  thyroid hormone receptor activity  binding  nucleus  nucleoplasm  transcription factor complex  axon guidance  biological_process  zinc ion binding  gene expression  hippocampus development  adult behavior  organ regeneration  cellular response to stress  steroid hormone mediated signaling pathway  response to peptide hormone stimulus  negative regulation of neuron apoptosis  sequence-specific DNA binding  positive regulation of cell cycle  metal ion binding  semicircular canal morphogenesis  neuromuscular process controlling balance  vestibular reflex  positive regulation of leukocyte apoptosis  
Other databases
Probes
Probes : ImagenesNR4A3 Related clones (RZPD - Berlin)
Litterature
PubMed38 Pubmed reference(s) in Entrez
PubGeneNR4A3
iHOPNR4A3

Bibliography

Molecular cloning of a novel thyroid/steroid receptor superfamily gene from cultured rat neuronal cells.
Ohkura N, Hijikuro M, Yamamoto A, Miki K
Biochemical and biophysical research communications. 1994 ; 205 (3) : 1959-1965.
PMID 7811288
 
The isolation and characterization of MINOR, a novel mitogen-inducible nuclear orphan receptor.
Hedvat CV, Irving SG
Molecular endocrinology (Baltimore, Md.). 1995 ; 9 (12) : 1692-1700.
PMID 8614405
 
Oncogenic conversion of a novel orphan nuclear receptor by chromosome translocation.
Labelle Y, Zucman J, Stenman G, Kindblom LG, Knight J, Turc-Carel C, Dockhorn-Dworniczak B, Mandahl N, Desmaze C, Peter M
Human molecular genetics. 1995 ; 4 (12) : 2219-2226.
PMID 8634690
 
Fusion of the EWS gene to CHN, a member of the steroid/thyroid receptor gene superfamily, in a human myxoid chondrosarcoma.
Clark J, Benjamin H, Gill S, Sidhar S, Goodwin G, Crew J, Gusterson BA, Shipley J, Cooper CS
Oncogene. 1996 ; 12 (2) : 229-235.
PMID 8570200
 
Identification of a novel fusion gene involving hTAFII68 and CHN from a t(9;17)(q22;q11.2) translocation in an extraskeletal myxoid chondrosarcoma.
Attwooll C, Tariq M, Harris M, Coyne JD, Telford N, Varley JM
Oncogene. 1999 ; 18 (52) : 7599-7601.
PMID 10602520
 
The EWS/TEC fusion protein encoded by the t(9;22) chromosomal translocation in human chondrosarcomas is a highly potent transcriptional activator.
Labelle Y, BussiˆŪres J, Courjal F, Goldring MB
Oncogene. 1999 ; 18 (21) : 3303-3308.
PMID 10359536
 
Fusion of the EWS-related gene TAF2N to TEC in extraskeletal myxoid chondrosarcoma.
Sjˆgren H, Meis-Kindblom J, Kindblom LG, Aman P, Stenman G
Cancer research. 1999 ; 59 (20) : 5064-5067.
PMID 10537274
 
Fusion of the NH2-terminal domain of the basic helix-loop-helix protein TCF12 to TEC in extraskeletal myxoid chondrosarcoma with translocation t(9;15)(q22;q21).
Sjˆgren H, Wedell B, Meis-Kindblom JM, Kindblom LG, Stenman G
Cancer research. 2000 ; 60 (24) : 6832-6835.
PMID 11156374
 
The AF2 domain of the orphan nuclear receptor TEC is essential for the transcriptional activity of the oncogenic fusion protein EWS/TEC.
Maltais A, Filion C, Labelle Y
Cancer letters. 2002 ; 183 (1) : 87-94.
PMID 12049818
 
The EWS/NOR1 fusion gene product gains a novel activity affecting pre-mRNA splicing.
Ohkura N, Yaguchi H, Tsukada T, Yamaguchi K
The Journal of biological chemistry. 2002 ; 277 (1) : 535-543.
PMID 11673470
 
The homeotic protein Six3 is a coactivator of the nuclear receptor NOR-1 and a corepressor of the fusion protein EWS/NOR-1 in human extraskeletal myxoid chondrosarcomas.
Laflamme C, Filion C, Bridge JA, Ladanyi M, Goldring MB, Labelle Y
Cancer research. 2003 ; 63 (2) : 449-454.
PMID 12543801
 
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Last year publicationsautomatic search in PubMed

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Contributor(s)

Written07-2003Goran Stenman

Citation

This paper should be referenced as such :
Stenman G . NR4A3 (nuclear receptor subfamily 4, group A, member 3). Atlas Genet Cytogenet Oncol Haematol. July 2003 .
URL : http://AtlasGeneticsOncology.org/Genes/TECID75.html

This paper is referenced by INIST as such :
http://documents.irevues.inist.fr/bitstream/2042/37987/1/07-2003-TECID75.pdf   [ Bibliographic record ]

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indexed on : Sat Apr 28 15:10:09 CEST 2012
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