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AFF3 (lymphoid nuclear protein related to AF4)

Written2003-08Anne RM von Bergh
Afdeling Klinische Genetica, Erasmus MC, Dr. Molewaterplein 50, 3015 GE Rotterdam, The Netherlands

(Note : for Links provided by Atlas : click)


Other aliasLAF4 (lymphoid nuclear protein related to AF4)
MLLT2-related protein, lymphoid nuclear protein 4
LocusID (NCBI) 3899
Atlas_Id 315
Location 2q11.2  [Link to chromosome band 2q11]
Location_base_pair Starts at and ends at bp from pter
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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)


Description at least 17 exons.
Transcription in a telomere to centromere direction; 3857 bp mRNA; 3684 bp open reading frame.


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) . --> 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.
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


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 ]
On line version :

Other Leukemias implicated (Data extracted from papers in the Atlas) [ 9 ]
  t(2;11)(q11;q23) KMT2A/AFF3
t(2;18)(q11;q21) AFF3/BCL2
t(2;21)(q11;q22) RUNX1/AFF3
11q23 rearrangements (KMT2A) in leukaemia
t(2;11)(q11;q23) KMT2A/AFF3
t(2;18)(q11;q21) AFF3/BCL2
t(2;21)(q11;q22) RUNX1/AFF3

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 6 ]
  AFF3/NPAS2 (2q11)
t(2;2)(q11;q12) AFF3/TMEM182
t(2;6)(q11;p21) AFF3/PHF1
t(2;7)(q11;q31) AFF3/ASZ1
t(2;10)(q11;q26) FGFR2/AFF3
t(2;17)(q11;q21) AFF3/HDAC5

External links

Genomic and cartography
Gene and transcription
RefSeq transcript (Entrez)
RefSeq genomic (Entrez)
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
BioGPS (Tissue expression)3899
Protein : pattern, domain, 3D structure
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Protein Interaction databases
Ontologies - Pathways
Clinical trials, drugs, therapy
canSAR (ICR) (select the gene name)
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Oct 18 17:41:09 CEST 2018

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