Identity
HGNC
LOCATION
13q12.11
IMAGE
LEGEND
FIM (13q12) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.
LOCUSID
ALIAS
FIM,MYM,RAMP,SCLL,ZNF198
FUSION GENES
DNA/RNA
Description
full length cDNA: 5,016 bp; a single open reading frame of 4,137 bp; alternative spliced cDNA variant
Transcription
main transcripts: 5.0 and 7.5 kb
Proteins
Description
1 379 amino acids; hydrophobic protein containing several motifs: a N-terminal cystein-rich region containing ten repeats with the consensus sequence C-X2-C-X18-24-F/Y-C-X3-C, which correspond to a novel zinc finger motifs, a highly hydrophobic proline-rich stretch, and a bipartite nuclear localization signal
Expression
wide
Localisation
cell nucleus and nucleolus; within the nucleolus, colocalizes with UBF (Upstream Binding Factor)
Function
may be involved in the regulation of rRNA transcription
Homology
FIM is related to DXS6673E, a gene which may be related with mental retardation
Implicated in
Entity name
t(8;13)(p12;q12)/AML-NHL --> 5 ZMYM2 - 3 FGFR1 ; stem-cell myeloproliferative disorder associated with the 8p12 chromosomal translocations; fused to the catalytic domain of FGFR1
Disease
stem-cell myeloproliferative disorder characterized by myeloid hyperplasia, T -cell lymphoblastic leukemia/lymphoma and peripheral blood eosinophilia, and it generally progresses to acute myeloid leukemia; specific to the 8p12 chromosomal region
Prognosis
very poor (median survival: 12 mths)
Cytogenetics
usually, t(8;13)(p12;q12) occurs as a single anomaly; duplication of the der(13) was found during disease progression, suggesting that the crucial event might lie on this derivative chromosome; additional abnormalities:+8, +21
Hybrid gene
5 FIM - 3 FGFR1; localisation: der(13)
DNA Diagram
Fusion protein
aberrant tyrosine kinase composed of the N-term two-thirds of FIM (retaining the 10 putative zinc finger motifs), and the FGFR1 intracellular region minus the major part of the juxtamembrane domain
Oncogenesis
constitutive kinase activity of FGFR1 through constitutive activation of FGFR1 signal transduction pathways via constitutive dimerization capability mediated by the FIM N-term zinc finger sequences
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 10480903 | 1999 | Characterization of FIM-FGFR1, the fusion product of the myeloproliferative disorder-associated t(8;13) translocation. | Ollendorff V et al |
| 9576949 | 1998 | Fibroblast growth factor receptor 1 is fused to FIM in stem-cell myeloproliferative disorder with t(8;13). | Popovici C et al |
| 9499416 | 1998 | The t(8;13)(p11;q11-12) rearrangement associated with an atypical myeloproliferative disorder fuses the fibroblast growth factor receptor 1 gene to a novel gene RAMP. | Smedley D et al |
| 10887137 | 2000 | ZNF198-FGFR1 transforming activity depends on a novel proline-rich ZNF198 oligomerization domain. | Xiao S et al |
| 9425908 | 1998 | FGFR1 is fused with a novel zinc-finger gene, ZNF198, in the t(8;13) leukaemia/lymphoma syndrome. | Xiao S et al |
Other Information
Locus ID:
NCBI: 7750
MIM: 602221
HGNC: 12989
Ensembl: ENSG00000121741
Variants:
dbSNP: 7750
ClinVar: 7750
TCGA: ENSG00000121741
COSMIC: ZMYM2
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37395395 | 2023 | ZMYM2 is essential for methylation of germline genes and active transposons in embryonic development. | 2 |
| 37934570 | 2023 | ZMYM2 controls human transposable element transcription through distinct co-regulatory complexes. | 1 |
| 37395395 | 2023 | ZMYM2 is essential for methylation of germline genes and active transposons in embryonic development. | 2 |
| 37934570 | 2023 | ZMYM2 controls human transposable element transcription through distinct co-regulatory complexes. | 1 |
| 34935912 | 2022 | Proteomic analysis identifies ZMYM2 as endogenous binding partner of TBX18 protein in 293 and A549 cells. | 2 |
| 35313791 | 2022 | UBE2B promotes ovarian cancer growth via promoting RAD18 mediated ZMYM2 monoubiquitination and stabilization. | 7 |
| 34935912 | 2022 | Proteomic analysis identifies ZMYM2 as endogenous binding partner of TBX18 protein in 293 and A549 cells. | 2 |
| 35313791 | 2022 | UBE2B promotes ovarian cancer growth via promoting RAD18 mediated ZMYM2 monoubiquitination and stabilization. | 7 |
| 32439918 | 2020 | Characterization of the zinc finger proteins ZMYM2 and ZMYM4 as novel B-MYB binding proteins. | 6 |
| 32559458 | 2020 | The Chromatin Regulator ZMYM2 Restricts Human Pluripotent Stem Cell Growth and Is Essential for Teratoma Formation. | 9 |
| 32891193 | 2020 | Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations. | 15 |
| 32439918 | 2020 | Characterization of the zinc finger proteins ZMYM2 and ZMYM4 as novel B-MYB binding proteins. | 6 |
| 32559458 | 2020 | The Chromatin Regulator ZMYM2 Restricts Human Pluripotent Stem Cell Growth and Is Essential for Teratoma Formation. | 9 |
| 32891193 | 2020 | Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations. | 15 |
| 28751768 | 2017 | Cytogenetically cryptic ZMYM2-FLT3 and DIAPH1-PDGFRB gene fusions in myeloid neoplasms with eosinophilia. | 11 |
Citation
Marie-Joséphe Pébusque
ZMYM2 (fused in myeloproliferative disorders).
Atlas Genet Cytogenet Oncol Haematol. 2001-01-01
Online version: http://atlasgeneticsoncology.org/gene/114/zmym2-(fused-in-myeloproliferative-disorders)
Historical Card
1998-03-01 ZMYM2 (fused in myeloproliferative disorders). by Jean-Loup Huret,Dominique Leroux Affiliation
Lymphoma Research Group - Groupe de Recherche sur les Lymphomes, Institut Albert Bonniot, La Tronche 38706, France (DL)
