| Written | 2000-02 | Jean-Loup Huret |
| Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France |
| Identity |
| Other names | ARG (Abelson related gene) |
| ABLL | |
| HGNC (Hugo) | ABL2 |
| LocusID (NCBI) | 27 |
| Atlas_Id | 226 |
| Location | 1q25.2 [Link to chromosome band 1q25] |
| Location_base_pair | Starts at 179068462 and ends at 179112224 bp from pter ( according to hg19-Feb_2009) [Mapping ABL2.png] |
 | |
| ABL2 (1q25) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics. | |
| Fusion genes (updated 2016) | ABL2 (1q25.2) / ABL2 (1q25.2) | ABL2 (1q25.2) / COPG1 (3q21.3) | ABL2 (1q25.2) / ETV6 (12p13.2) |
| ABL2 (1q25.2) / HLA-DRB1 (6p21.32) | ABL2 (1q25.2) / ZC3HAV1 (7q34) | ETV6 (12p13.2) / ABL2 (1q25.2) | |
| H2AFV (7p13) / ABL2 (1q25.2) | NR4A3 (9q22.33) / ABL2 (1q25.2) | TRAPPC12 (2p25.3) / ABL2 (1q25.2) | |
| ZC3HAV1 (7q34) / ABL2 (1q25.2) |
| DNA/RNA |
| Transcription | alternate splicing in 5 prime; 3.8 kb mRNA; ORF: 3548 bp |
| Protein |
| Description | 1182 amino acids; 128 kDa; comprises SH3 and SH2 domains, a protein tyrosine kinase domain, a nuclear localization domain |
| Function | cytoplasmic tyrosine kinase |
| Homology | SRC homology; closely related to ABL1 |
| Implicated in |
| Note | |
| Entity | t(1;12)(q25;p13) --> ABL2-ETV6 |
| Disease | acute non lymphocytic leukemia |
| Abnormal Protein | the fusion protein is composed of the HLH oligomerization domain of ETV6 and the SH2, SH3, and protein tyrosine kinase domains of ABL2 |
| Bibliography |
| The tyrosine kinase abl-related gene ARG is fused to ETV6 in an AML-M4Eo patient with a t(1;12)(q25;p13): molecular cloning of both reciprocal transcripts. |
| Cazzaniga G, Tosi S, Aloisi A, Giudici G, Daniotti M, Pioltelli P, Kearney L, Biondi A |
| Blood. 1999 ; 94 (12) : 4370-4373. |
| PMID 10590083 |
| A novel human gene closely related to the abl proto-oncogene. |
| Kruh GD, King CR, Kraus MH, Popescu NC, Amsbaugh SC, McBride WO, Aaronson SA |
| Science (New York, N.Y.). 1986 ; 234 (4783) : 1545-1548. |
| PMID 3787260 |
| The complete coding sequence of arg defines the Abelson subfamily of cytoplasmic tyrosine kinases. |
| Kruh GD, Perego R, Miki T, Aaronson SA |
| Proceedings of the National Academy of Sciences of the United States of America. 1990 ; 87 (15) : 5802-5806. |
| PMID 2198571 |
| Mapping of Abll within a conserved linkage group on distal mouse chromosome 1 syntenic with human chromosome 1 using an interspecific cross. |
| Seldin MF, Kruh GD |
| Genomics. 1989 ; 4 (2) : 221-223. |
| PMID 2567701 |
| Citation |
| This paper should be referenced as such : |
| Huret, JL |
| ABL2 (abelson homolog 2) |
| Atlas Genet Cytogenet Oncol Haematol. 2000;4(1):9-9. |
| Free journal version : [ pdf ] [ DOI ] |
| On line version : http://AtlasGeneticsOncology.org/Genes/ABL2ID226.html |
| Other Leukemias implicated (Data extracted from papers in the Atlas) [ 2 ] |
|
t(1;12)(q25;p13) ETV6/ABL2
t(4;11)(q35;q23) KMT2A/SORBS2 |
| 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 : Mon Sep 19 19:22:12 CEST 2016 |
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