t(11;14)(q23;q24) KMT2A/GPHN

2002-04-01   Mariko Eguchi 

1.Leukaemia Research Fund Centre, Institute of Cancer Research, Chester Beatty Laboratories, 237 Fulham Road, London SW3 6JB, UK

Clinics and Pathology


AML and therapy related AL

Phenotype stem cell origin

monoblastic, unclassified


Rare. Three cases reported so far.


Very poor. Less than 2 months survival in two cases.

Genes Involved and Proteins

Gene name
KMT2A (myeloid/lymphoid or mixed lineage leukemia)
Dna rna description
36 exons, spans over 100kb, ORF 12kb.
Protein description
3969 amino acids; 431 kDa; contains two DNA binding motifs (a AT hook and a DNA methyltransferase homology motif), trithorax homology domains, zinc finger domains with features of PHD fingers and the C-terminal SET domain.
Gene name
GPHN (Gephyrin)
Dna rna description
29 exons, spans approximately 800kb, ORF 2.3kb
Protein description
736 to 770 amino acids; 93-105 kDa; submembraneous scaffold protein that anchors glycine receptor to postsynaptic cytoskeletal elements through a putative microtubule binding motif. GPHN is also involved in molybdenum cofactor biosynthesis (MoaB, MogA and MoeA homology domain), and interacts with RAFT-1.

Result of the Chromosomal Anomaly


5 MLL-3 GPHN on der (11)


no GPHN-MLL reciprocal transcript
MLL-GPHN protein


C-terminal half of GPHN, including the suspected putative microtubule binding motif and MoeA homology domain, is fused to the N-terminal portion of MLL.


Pubmed IDLast YearTitleAuthors
116078192001Molecular mechanisms of leukemogenesis mediated by MLL fusion proteins.Ayton PM et al
114182452001The human gephyrin (GPHN) gene: structure, chromosome localization and expression in non-neuronal cells.David-Watine B et al
115794612001GPHN, a novel partner gene fused to MLL in a leukemia with t(11;14)(q23;q24).Eguchi M et al
108117192000Receptors, gephyrin and gephyrin-associated proteins: novel insights into the assembly of inhibitory postsynaptic membrane specializations.Kneussel M et al
112891452001t(11;14)(q23;q24) generates an MLL-human gephyrin fusion gene along with a de facto truncated MLL in acute monoblastic leukemia.Kuwada N et al
16384981992Leukemic evolution in three patients with myelodysplastic syndrome and unusual chromosome changes.Palka G et al
13191861992Primary structure and alternative splice variants of gephyrin, a putative glycine receptor-tubulin linker protein.Prior P et al


Fusion gene

KMT2A/GPHN KMT2A (11q23.3) GPHN (14q23.3) COF 1850 1851 1852|KMT2A/GPHN KMT2A (11q23.3) GPHN (14q23.3) TIC
Atlas Image
t(11;14)(q23;q24), G-banding


Mariko Eguchi

t(11;14)(q23;q24) KMT2A/GPHN

Atlas Genet Cytogenet Oncol Haematol. 2002-04-01

Online version: http://atlasgeneticsoncology.org/haematological/1198/t(11;14)(q23;q24)