Atlas of Genetics and Cytogenetics in Oncology and Haematology
Dear Colleagues,
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AFF3 (lymphoid nuclear protein related to AF4)
| Identity |
| Other names | LAF4 (lymphoid nuclear protein related to AF4) |
| MLLT2-related protein, lymphoid nuclear protein 4 | |
| HGNC (Hugo) | AFF3 |
| LocusID (NCBI) | 3899 |
| Location | 2q11.2 |
| Location_base_pair | Starts at 100163716 and ends at 100722045 bp from pter ( according to hg19-Feb_2009) [Mapping] |
| DNA/RNA |
| Description | at least 17 exons. |
| Transcription | in a telomere to centromere direction; 3857 bp mRNA; 3684 bp open reading frame. |
| Protein |
| Description | 1227 amino acids; 133734 Da. |
| Expression | Preferentially expressed in lymphoid tissues, highest levels being found in the thymus. Lower expression in brain and lung. |
| Localisation | Nuclear |
| Function | Putative transcription activator that may function in lymphoid development and oncogenesis. Binds in vitro to double-stranded DNA |
| Homology | Belongs to the AF4/LAF4/FMR2/AF5q31 family. |
| Implicated in |
| Entity | t(2;11)(q11;q23) . --> MLL-LAF4 |
| Note | MLL fusion partner at chromosome 2 in infant ALL |
| Disease | The three cases reported to date were all infant-ALL with proB phenotype |
| Prognosis | Prognosis is poor, although based on only three cases. |
| Cytogenetics | The three reported cases harboured different rearrangements involving chromosomes 2 and 11: t(2;11)(q11;q23), t(2;11)(p15;p14), and ins(11;2)(q23;q11.2q11.2). |
| Abnormal Protein | The MLL-LAF4 fusion protein includes the transactivation domain of LAF4 that is part of the AF4/LAF4/FMR2 homology domain. |
 | |
| Coding sequence of LAF4 compared to AF4 and site of fusion. Schematic representation of MLL, LAF4, AF4, and the putative MLL-LAF4 fusion protein. Domains in MLL are shaded: MT, DNA methyltransferase homology region; TRX, Drosophila trithorax homology. The percentage of amino acid homology between corresponding regions of LAF4 and AF4 is indicated: NHD, N-terminal homology domain; ALF, AF4/LAF4/FMR2 homology domain; TAD, transactivation domain; NLS, nuclear localization sequence; CHD, C-terminal homology domain. Arrows indicate the fusion sites with MLL. The breakpoint in LAF4 corresponds to one of the known breakpoints in AF4. | |
| Breakpoints |
 | |
| Other Leukemias implicated (Data extracted from papers in the Atlas) |
| Leukemias | 11q23ChildAMLID1615 | 11q23ID1030 | 11q23secondLeukID1131 |
| External links |
| Bibliography |
| LAF-4 encodes a lymphoid nuclear protein with transactivation potential that is homologous to AF-4, the gene fused to MLL in t(4;11) leukemias. |
| Ma C, Staudt LM |
| Blood. 1996 ; 87 (2) : 734-745. |
| PMID 8555498 |
| LAF4, an AF4-related gene, is fused to MLL in infant acute lymphoblastic leukemia. |
| von Bergh AR, Beverloo HB, Rombout P, van Wering ER, van Weel MH, Beverstock GC, Kluin PM, Slater RM, Schuuring E |
| Genes, chromosomes & cancer. 2002 ; 35 (1) : 92-96. |
| PMID 12203795 |
| Occurrence of an MLL/LAF4 fusion gene caused by the insertion ins(11;2)(q23;q11.2q11.2) in an infant with acute lymphoblastic leukemia. |
| Bruch J, Wilda M, Teigler-Schlegel A, Harbott J, Borkhardt A, Metzler M |
| Genes, chromosomes & cancer. 2003 ; 37 (1) : 106-109. |
| PMID 12661012 |
| Fusion of an AF4-related gene, LAF4, to MLL in childhood acute lymphoblastic leukemia with t(2;11)(q11;q23). |
| Hiwatari M, Taki T, Taketani T, Taniwaki M, Sugita K, Okuya M, Eguchi M, Ida K, Hayashi Y |
| Oncogene. 2003 ; 22 (18) : 2851-2855. |
| PMID 12743608 |
| REVIEW articles | automatic search in PubMed |
| Last year publications | automatic search in PubMed |
| Contributor(s) |
| Written | 08-2003 | Anne RM von Bergh |
| Citation |
| This paper should be referenced as such : |
| von Bergh, ARM |
| LAF4 (lymphoid nuclear protein related to AF4) |
| Atlas Genet Cytogenet Oncol Haematol. 2003;7(4):226-227. |
| Free journal version : [ pdf ] [ DOI ] |
| URL : http://AtlasGeneticsOncology.org/Genes/LAF4ID315.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Tue Feb 17 20:47:33 CET 2015 |
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