| Alias (NCBI) | LAF4 (lymphoid nuclear protein related to AF4) |
| MLLT2-related protein, lymphoid nuclear protein 4 |
| HGNC (Hugo) |
AFF3 |
| HGNC Alias symb | MLLT2-like |
| HGNC Previous name | LAF4 |
| HGNC Previous name | "lymphoid nuclear protein related to AF4 |
| AF4/FMR2 family, member 3" |
| LocusID (NCBI) |
3899 |
| Atlas_Id |
315 |
| Location |
2q11.2 [Link to chromosome band 2q11] |
| Location_base_pair |
Starts at 99545419 and ends at 100142590 bp from pter ( according to GRCh38/hg38-Dec_2013) [Mapping AFF3.png] |
| | AFF3 (2q11.2) / AFF1 (4q21.3) | AFF3 (2q11.2) / ASZ1 (7q31.2) | AFF3 (2q11.2) / BCL2 (18q21.33) |
| |
AFF3 (2q11.2) / CDH3 (16q22.1) | AFF3 (2q11.2) / EIF5B (2q11.2) | AFF3 (2q11.2) / HDAC5 (17q21.31) |
| |
AFF3 (2q11.2) / KMT2A (11q23.3) | AFF3 (2q11.2) / NPAS2 (2q11.2) | AFF3 (2q11.2) / PHF1 (6p21.32) |
| |
AFF3 (2q11.2) / RTN4 (2p16.1) | AFF3 (2q11.2) / RUNX1 (21q22.12) | AFF3 (2q11.2) / SAP130 (2q14.3) |
| |
AFF3 (2q11.2) / TMEM182 (2q12.1) | EPAS1 (2p21) / AFF3 (2q11.2) | FGFR2 (10q26.13) / AFF3 (2q11.2) |
| |
KMT2A (11q23.3) / AFF3 (2q11.2) | POLR1A (2p11.2) / AFF3 (2q11.2) | RGS3 (9q32) / AFF3 (2q11.2) |
| |
RP9 (7p14.3) / AFF3 (2q11.2) | RUNX1 (21q22.12) / AFF3 (2q11.2) |
| Note | |
| | |
| Entity | t(2;11)(q11;q23) . --> KMT2A- 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. |
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| 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. |
| | |
| 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 |
| |
| 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 |
| |
