RARA (Retinoic acid receptor, alpha)
Written | 2000-10 | Franck Vigué |
Laboratoire de Cytogenetique - Service d'Hematologie Biologique, Hopital Hotel-Dieu - 75181 Paris Cedex 04, France |
(Note : for Links provided by Atlas : click)
1. Identity
Alias_names | General Information |
Alias_symbol (synonym) | RAR |
NR1B1 | |
Other alias | |
HGNC (Hugo) | RARA |
LocusID (NCBI) | 5914 |
Atlas_Id | 46 |
Location | 17q21.2 [Link to chromosome band 17q21] |
Location_base_pair | Starts at 40318221 and ends at 40357643 bp from pter ( according to hg19-Feb_2009) [Mapping RARA.png] |
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c-RARA (17q21) in normal cells: PAC 833D9 - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics. | |
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RARA (Retinoic acid receptor, alpha) Hybridization with LSI RARA Dual Color, Break Apart Rearrangement Probe (Abbott Molecular, US), showing the RARA gene on 17q21.2 (red-green or a fused yellow signal - Courtesy Adriana Zamecnikova. | |
Fusion genes (updated 2017) | Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands) |
- () / RARA (17q21.2) | BCOR (Xp11.4) / RARA (17q21.2) | CELF2 (10p14) / RARA (17q21.2) | |
ETV6 (12p13.2) / RARA (17q21.2) | FIP1L1 (4q12) / RARA (17q21.2) | GTF2I (7q11.23) / RARA (17q21.2) | |
H2AFV (7p13) / RARA (17q21.2) | IRF2BP2 (1q42.3) / RARA (17q21.2) | KMT2A (11q23.3) / RARA (17q21.2) | |
NABP1 (2q32.3) / RARA (17q21.2) | NPM1 (5q35.1) / RARA (17q21.2) | NUMA1 (11q13.4) / RARA (17q21.2) | |
PML (15q24.1) / RARA (17q21.2) | PRKAR1A (17q24.2) / RARA (17q21.2) | RARA (17q21.2) / BRD4 (19p13.12) | |
RARA (17q21.2) / CA10 (17q21.33) | RARA (17q21.2) / CDC6 (17q21.2) | RARA (17q21.2) / CDK12 (17q12) | |
RARA (17q21.2) / COL10A1 (6q22.1) | RARA (17q21.2) / HOXB3 (17q21.32) | RARA (17q21.2) / KMT2A (11q23.3) | |
RARA (17q21.2) / MSL1 (17q21.1) | RARA (17q21.2) / MYO1D (17q11.2) | RARA (17q21.2) / NARS2 (11q14.1) | |
RARA (17q21.2) / NPM1 (5q35.1) | RARA (17q21.2) / NUMA1 (11q13.4) | RARA (17q21.2) / PCTP (17q22) | |
RARA (17q21.2) / PGAP3 (17q12) | RARA (17q21.2) / PKIA (8q21.12) | RARA (17q21.2) / PML (15q24.1) | |
RARA (17q21.2) / POLDIP2 (17q11.2) | RARA (17q21.2) / PRKAR1A (17q24.2) | RARA (17q21.2) / PRR11 (17q22) | |
RARA (17q21.2) / PSMD3 (17q21.1) | RARA (17q21.2) / RARA (17q21.2) | RARA (17q21.2) / RP11-1407O15.2 () | |
RARA (17q21.2) / SKAP1 (17q21.32) | RARA (17q21.2) / STAC2 (17q12) | RARA (17q21.2) / STAT3 (17q21.2) | |
RARA (17q21.2) / STAT5B (17q21.2) | RARA (17q21.2) / TIF1 () | RARA (17q21.2) / TMEM94 (17q25.1) | |
RARA (17q21.2) / TRIM24 (7q33) | RARA (17q21.2) / WIPF2 (17q21.1) | RARA (17q21.2) / ZBTB16 (11q23.2) | |
RARA (17q21.2) / ZNF145 () | RARA (17q21.2) / ZNF595 (4p16.3) | SNU13 (22q13.2) / RARA (17q21.2) | |
STAT5A (17q21.2) / RARA (17q21.2) | STAT5B (17q21.2) / RARA (17q21.2) | TAOK1 (17q11.2) / RARA (17q21.2) | |
TBL1XR1 (3q26.32) / RARA (17q21.2) | TMEM11 (17p11.2) / RARA (17q21.2) | TPCN2 (11q13.3) / RARA (17q21.2) | |
TRIM24 (7q33) / RARA (17q21.2) | ZBTB16 (11q23.2) / RARA (17q21.2) |
2. DNA/RNA
Description | 9 exons; total gene sequence: 7450 bp |
Transcription | 2.8 and 3.6 kb transcripts |
3. Protein
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Description | 462 amino acids - 5 functional domains A/B (transcriptional regulation), C (DNA binding domain, contains 2 zinc fingers), D (cellular localization signal), E (ligand-binding domain) and F (function?) |
Expression | in hematopoietic cells |
Localisation | nuclear |
Function | |
Homology | with RARB and RARG (retinoic acid receptors ? and ?), 9-cis RA receptors (RXRs) and receptors for thyroid and steroid hormones and for vitamine D3 |
4. Implicated in
Note | |
Entity | t(15;17)(q24;q21) / acute promyelocytic leukemia (APL) -->PML - -RARA |
Disease | typical APL (or M3 AML, FAB classification), approximately 98% of APL cases; abnormal promyelocytes with Auer rods and bundles (faggots); disruption of the PODs with a microspeckeled pattern; maturation response to all-trans retinoic acid (ATRA) therapy |
Prognosis | immediate prognosis impaired by intravascular disseminated coagulopathy; long term prognosis is favorable with treatment combining ATRA plus chemotherapy |
Cytogenetics | variant or complex t(15;17) translocation in 5% of cases, no known prognosis implication; secondary chromosomal abnormalities in 30 to 35% of APL at diagnosis; association with +8 in 17 to 28% of cases; other associations are rare but recurrent: del(7q), del(9q), ider(17)t(15;17), +21 |
Hybrid/Mutated Gene | |
Abnormal Protein | 106 Kda fusion protein; role in the leukemogenic process by probable interference with the signalling pathway leading to differentiation and maturation of myeloid precursors (mainly dysregulation of retinoid-inducible genes involved in myeloid differentiation) |
Entity | t(11;17)(q23;q12) / acute promyelocytic leukemia -->PLZF- -RARA |
Disease | variant acute promyelocytic leukemia (APL) form with atypical cytologic aspects (intermediate morphology between M2 and M3, no Auer rods) and no response to ATRA therapy; less than 1% of APL cases. |
Entity | t(5;17)(q35;q12) / acute promyelocytic leukemia --> NPM- -RARA |
Disease | exceptional; probable response to ATRA |
Entity | t(11;17)(q13;q12) / acute promyelocytic leukemia --> NuMA- -RARA |
Disease | exceptional: probable response to ATRA |
Entity | t(11;17)(q23;q12) / M5 acute non lymphocytic leukemia --> KMT2A -RARA |
Disease | 1 case to date; not to be confused with the t(11;17)(q23;q12) mentioned above; not found in APL; belongs to the MLL/11q23 leukemias |
5. Breakpoints
6. Bibliography
Genetics of APL and the molecular basis of retinoic acid treatment. |
Casini T, Grignani F, Pelicci PG |
International journal of cancer. Journal international du cancer. 1997 ; 70 (4) : 473-474. |
PMID 9033658 |
The pathogenesis of acute promyelocytic leukaemia: evaluation of the role of molecular diagnosis and monitoring in the management of the disease. |
Grimwade D |
British journal of haematology. 1999 ; 106 (3) : 591-613. |
PMID 10468848 |
Chromosomal translocation t(15;17) in human acute promyelocytic leukemia fuses RAR alpha with a novel putative transcription factor, PML. |
Kakizuka A, Miller WH Jr, Umesono K, Warrell RP Jr, Frankel SR, Murty VV, Dmitrovsky E, Evans RM |
Cell. 1991 ; 66 (4) : 663-674. |
PMID 1652368 |
Deconstructing a disease: RARalpha, its fusion partners, and their roles in the pathogenesis of acute promyelocytic leukemia. |
Melnick A, Licht JD |
Blood. 1999 ; 93 (10) : 3167-3215. |
PMID 10233871 |
Characterization of the PML-RAR alpha chimeric product of the acute promyelocytic leukemia-specific t(15;17) translocation. |
Nervi C, Poindexter EC, Grignani F, Pandolfi PP, Lo Coco F, Avvisati G, Pelicci PG, Jetten AM |
Cancer research. 1992 ; 52 (13) : 3687-3692. |
PMID 1319828 |
The t(15;17) translocation of acute promyelocytic leukaemia fuses the retinoic acid receptor alpha gene to a novel transcribed locus. |
de Thé H, Chomienne C, Lanotte M, Degos L, Dejean A |
Nature. 1990 ; 347 (6293) : 558-561. |
PMID 2170850 |
7. Citation
This paper should be referenced as such : |
Viguié, F |
RARA (retinoic acid receptor, alpha) |
Atlas Genet Cytogenet Oncol Haematol. 2000;4(4):195-196. |
Free journal version : [ pdf ] [ DOI ] |
On line version : http://atlasgeneticsoncology.usal.es/classic/Genes/RARAID46.html |
8. Other Leukemias implicated (Data extracted from papers in the Atlas) [ 20 ]
Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 21 ] |
9. 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 19:06:26 CET 2019 |
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