NR4A3 (nuclear receptor subfamily 4, group A, member 3)
| Written | 2003-07 | Goran Stenman |
| Lundberg Laboratory for Cancer Research, Department of Pathology, Goteborg University, Sahlgrenska University Hospital, SE-413 45 Goteborg, Sweden |
(Note : for Links provided by Atlas : click)
1. Identity
| Alias_names | General Information |
| Alias_symbol (synonym) | CSMF |
| CHN | |
| NOR1 | |
| MINOR | |
| Other alias | TEC |
| NR4A3 | |
| HGNC (Hugo) | NR4A3 |
| LocusID (NCBI) | 8013 |
| Atlas_Id | 75 |
| Location | 9q22.33 [Link to chromosome band 9q22] |
| Location_base_pair | Starts at 99821855 and ends at 99866891 bp from pter ( according to hg19-Feb_2009) [Mapping NR4A3.png] |
| Fusion genes (updated 2017) | Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands) |
| EWSR1 (22q12.2) / NR4A3 (9q22.33) | EWSR1 (22q12.2) / NR4A3 (9q31.1) | FUS (16p11.2) / NR4A3 (9q22.33) | |
| FUS (16p11.2) / NR4A3 (9q31.1) | NR4A3 (9q22.33) / ABL2 (1q25.2) | NR4A3 (9q22.33) / EWSR1 (22q12.2) | |
| NR4A3 (9q22.33) / TAF15 (17q12) | NR4A3 (9q22.33) / TCF12 (15q21.3) | NR4A3 (9q22.33) / TFG (3q12.2) | |
| NR4A3 (9q31.1) / EWSR1 (22q12.2) | NR4A3 (9q31.1) / TAF15 (17q12) | STX17 (9q31.1) / NR4A3 (9q22.33) | |
| TAF15 (17q12) / NR4A3 (9q22.33) | TAF15 (17q12) / NR4A3 (9q31.1) | TCF12 (15q21.3) / NR4A3 (9q22.33) | |
| TCF12 (15q21.3) / NR4A3 (9q31.1) | TFG (3q12.2) / NR4A3 (9q22.33) | TFG (3q12.2) / NR4A3 (9q31.1) | |
2. DNA/RNA
| Description | spans about 46 kb; 9 exons |
| Transcription | four transcript variants (6382 bp, 5635 bp, 4983bp and 2588 bp) |
3. 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. |
4. Implicated in
| Note | |
| 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. |
5. Breakpoints
6. Bibliography
| 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 |
| 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 |
| 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 |
| The EWS/TEC fusion protein encoded by the t(9;22) chromosomal translocation in human chondrosarcomas is a highly potent transcriptional activator. |
| Labelle Y, Bussières J, Courjal F, Goldring MB |
| Oncogene. 1999 ; 18 (21) : 3303-3308. |
| PMID 10359536 |
| 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 |
| 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 |
| 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 |
| 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 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 |
| 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). |
| Sjögren H, Wedell B, Meis-Kindblom JM, Kindblom LG, Stenman G |
| Cancer research. 2000 ; 60 (24) : 6832-6835. |
| PMID 11156374 |
7. Citation
| This paper should be referenced as such : |
| Stenman, G |
| NR4A3 (nuclear receptor subfamily 4, group A, member 3) |
| Atlas Genet Cytogenet Oncol Haematol. 2003;7(3):176-177. |
| Free journal version : [ pdf ] [ DOI ] |
| On line version : http://atlasgeneticsoncology.usal.es/classic/Genes/TECID75.html |
| Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 7 ] |
8. External links
| REVIEW articles | automatic search in PubMed |
| Last year publications | automatic search in PubMed |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Thu Jan 17 19:09:51 CET 2019 |
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