Written | 1997-12 | Jean-Loup Huret |
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France |
Identity |
Alias (NCBI) | EEN (extra eleven nineteen leukemia fusion gene) |
HGNC (Hugo) | SH3GL1 |
HGNC Alias symb | SH3P8 | SH3D2B | CNSA1 | EEN | MGC111371 |
HGNC Alias name | extra 11-19 leukemia fusion | fusion partner of MLL | SH3-containing Grb-2-like 1 protein | SH3-containing protein EEN | SH3 domain GRB2-like 1 | endophilin A2 |
HGNC Previous name | SH3-domain GRB2-like 1 | SH3 domain containing GRB2 like 1 |
LocusID (NCBI) | 6455 |
Atlas_Id | 8 |
Location | 19p13.3 [Link to chromosome band 19p13] |
Location_base_pair | Starts at 4360370 and ends at 4400547 bp from pter ( according to GRCh38/hg38-Dec_2013) [Mapping SH3GL1.png] |
Fusion genes (updated 2017) | Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands) |
KMT2A (11q23.3) / SH3GL1 (19p13.3) | KMT2B (19q13.12) / SH3GL1 (19p13.3) | MAGOH (1p32.3) / SH3GL1 (19p13.3) | |
MAP2K7 (19p13.2) / SH3GL1 (19p13.3) | MLLT1 (19p13.3) / SH3GL1 (19p13.3) | SH3GL1 (19p13.3) / ANKRD24 (19p13.3) | |
SH3GL1 (19p13.3) / ARGLU1 (13q33.3) | SH3GL1 (19p13.3) / KMT2A (11q23.3) | SH3GL1 (19p13.3) / MUM1 (19p13.3) | |
SH3GL1 (19p13.3) / TAX1BP1 (7p15.2) | SH3GL1 (19p13.3) / TPRN (9q34.3) |
DNA/RNA |
Transcription | multiple transcript sizes, from 1 kb to the major form of 2.6 kb |
Protein |
Description | 368 amino acids; 46 kDa (major product); contains a central alpha-helical region and a SH3 (SRC homology 3) domain in C-term |
Expression | wide, especially in the pancreas |
Homology | GRB2 |
Implicated in |
Note | |
Entity | t(11;19)(q23;p13)/AML --> KMT2A - EEN |
Disease | yet unknown (only one case) |
Hybrid/Mutated Gene | 5' MLL- 3' EEN; breakpoint at exon 6 of MLL |
Abnormal Protein | includes the N-term of MLL (with the AT hook and DNA binding motifs) and the major functional domain of EEN |
Bibliography |
- |
Citation |
This paper should be referenced as such : |
Huret, JL |
EEN (extra eleven nineteen leukemia fusion gene) |
Atlas Genet Cytogenet Oncol Haematol. 1997;1(2):64-64. |
Free journal version : [ pdf ] [ DOI ] |
Other Leukemias implicated (Data extracted from papers in the Atlas) [ 2 ] |
11q23 rearrangements (KMT2A) in leukaemia
t(11;19)(q23;p13) KMT2A/SH3GL1 |
Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 4 ] |
t(7;19)(p15;p13) SH3GL1/TAX1BP1
MAP2K7/SH3GL1 (19p13) SH3GL1/ANKRD24 (19p13) SH3GL1/MUM1 (19p13) |
External links |
REVIEW articles | automatic search in PubMed |
Last year publications | automatic search in PubMed |
© Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Fri Jan 1 18:50:39 CET 2021 |
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