t(11;12)(q23;q13) KMT2A/SARNP
2005-08-01 Jean-Loup Huret Affiliation1.Genetics, Dept Medical Information, University of Poitiers; CHU Poitiers Hospital, F-86021 Poitiers, France
Clinics and Pathology
Disease
M4 acute myeloid leukaemia (AML)
Epidemiology
only 1 case to date: a 7 mth old boy
Prognosis
no data
Genes Involved and Proteins
Gene name
KMT2A (myeloid/lymphoid or mixed lineage leukemia)
Location
11q23.3
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
SARNP (cytokine induced protein 29 kDa)
Location
12q13.2
Protein description
210 amino acids, 29 kDa;contains from N term to C term a SAP domain and 2 nuclear localization domains
Result of the Chromosomal Anomaly
Description
5 MLL - 3 CIP29 including the 9 first exons of MLL, and nearly the entire CIP29The fusion protein includes from N term to C term the AT hooks and the methyltransferase domain of MLL and the SAP domain and the C term nuclear localization domains of CIP29.
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 15924260 | 2005 | Growth inhibitory effect of Hcc-1/CIP29 is associated with induction of apoptosis, not just with G2/M arrest. | Fukuda S et al |
| 11922608 | 2002 | Cloning and characterization of a proliferation-associated cytokine-inducible protein, CIP29. | Fukuda S et al |
| 15284855 | 2004 | A novel partner gene CIP29 containing a SAP domain with MLL identified in infantile myelomonocytic leukemia. | Hashii Y et al |
Summary
Fusion gene
KMT2A/SARNP KMT2A (11q23.3) SARNP (12q13.2) COF 1848 1849
Citation
Jean-Loup Huret
t(11;12)(q23;q13) KMT2A/SARNP
Atlas Genet Cytogenet Oncol Haematol. 2005-08-01
Online version: http://atlasgeneticsoncology.org/haematological/1400/t(11
