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ZMYM2 (fused in myeloproliferative disorders).

Identity

Other namesFIM (fused in myeloproliferative disorders).
ZNF198 (zinc finger protein 198).
RAMP
HGNC (Hugo) ZMYM2
LocusID (NCBI) 7750
Location 13q12.11
Location_base_pair Starts at 20532848 and ends at 20665984 bp from pter ( according to hg19-Feb_2009)  [Mapping]
Local_order proximal from FLT1 and FLT3
 
  FIM (13q12) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.

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

Protein

 
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 t(8;13)(p12;q12)/ANLL-NHL --> 5' FIM - 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/Mutated Gene 5' FIM - 3' FGFR1; localisation: der(13)
Abnormal 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
  

Other Leukemias implicated (Data extracted from papers in the Atlas)

Leukemias 11q23ChildAMLID1615 11q23ID1030

External links

Nomenclature
HGNC (Hugo)ZMYM2   12989
Cards
AtlasZNF198ID114
Entrez_Gene (NCBI)ZMYM2  7750  zinc finger, MYM-type 2
GeneCards (Weizmann)ZMYM2
Ensembl (Hinxton)ENSG00000121741 [Gene_View]  chr13:20532848-20665984 [Contig_View]  ZMYM2 [Vega]
ICGC DataPortalENSG00000121741
cBioPortalZMYM2
AceView (NCBI)ZMYM2
Genatlas (Paris)ZMYM2
WikiGenes7750
SOURCE (Princeton)NM_001190964 NM_001190965 NM_003453 NM_197968
Genomic and cartography
GoldenPath (UCSC)ZMYM2  -  13q12.11   chr13:20532848-20665984 +  13q11-q12   [Description]    (hg19-Feb_2009)
EnsemblZMYM2 - 13q11-q12 [CytoView]
Mapping of homologs : NCBIZMYM2 [Mapview]
OMIM602221   
Gene and transcription
Genbank (Entrez)AF012126 AF035374 AF060181 AJ224901 AK226118
RefSeq transcript (Entrez)NM_001190964 NM_001190965 NM_003453 NM_197968
RefSeq genomic (Entrez)AC_000145 NC_000013 NC_018924 NG_023348 NT_024524 NW_001838069 NW_004929388
Consensus coding sequences : CCDS (NCBI)ZMYM2
Cluster EST : UnigeneHs.507433 [ NCBI ]
CGAP (NCI)Hs.507433
Alternative Splicing : Fast-db (Paris)GSHG0007961
Alternative Splicing GalleryENSG00000121741
Gene ExpressionZMYM2 [ NCBI-GEO ]     ZMYM2 [ SEEK ]   ZMYM2 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UBW7 (Uniprot)
NextProtQ9UBW7  [Medical]
With graphics : InterProQ9UBW7
Splice isoforms : SwissVarQ9UBW7 (Swissvar)
Domains : Interpro (EBI)DUF3504 [organisation]   TRASH_dom [organisation]   Znf_MYM [organisation]  
Related proteins : CluSTrQ9UBW7
Domain families : Pfam (Sanger)DUF3504 (PF12012)    zf-FCS (PF06467)   
Domain families : Pfam (NCBI)pfam12012    pfam06467   
Domain families : Smart (EMBL)TRASH (SM00746)  
DMDM Disease mutations7750
Blocks (Seattle)Q9UBW7
Human Protein AtlasENSG00000121741 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasQ9UBW7
HPRD03745
IPIIPI00646199   IPI00941117   IPI00294603   IPI00640771   
Protein Interaction databases
DIP (DOE-UCLA)Q9UBW7
IntAct (EBI)Q9UBW7
FunCoupENSG00000121741
BioGRIDZMYM2
InParanoidQ9UBW7
Interologous Interaction database Q9UBW7
IntegromeDBZMYM2
STRING (EMBL)ZMYM2
Ontologies - Pathways
Ontology : AmiGOcytosol  transcription, DNA-templated  regulation of transcription, DNA-templated  biological_process  zinc ion binding  PML body  ubiquitin conjugating enzyme binding  
Ontology : EGO-EBIcytosol  transcription, DNA-templated  regulation of transcription, DNA-templated  biological_process  zinc ion binding  PML body  ubiquitin conjugating enzyme binding  
Protein Interaction DatabaseZMYM2
Wikipedia pathwaysZMYM2
Gene fusion - rearrangments
Rearrangement : TICdbZMYM2 [13q12.11]  -  FGFR1 [15q14]
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)ZMYM2
snp3D : Map Gene to Disease7750
SNP (GeneSNP Utah)ZMYM2
SNP : HGBaseZMYM2
Genetic variants : HAPMAPZMYM2
Exome VariantZMYM2
1000_GenomesZMYM2 
ICGC programENSG00000121741 
Cancer Gene: CensusZMYM2 
Somatic Mutations in Cancer : COSMICZMYM2 
CONAN: Copy Number AnalysisZMYM2 
Mutations and Diseases : HGMDZMYM2
Mutations and Diseases : intOGenZMYM2
Genomic VariantsZMYM2  ZMYM2 [DGVbeta]
dbVarZMYM2
ClinVarZMYM2
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM602221   
MedgenZMYM2
GENETestsZMYM2
Disease Genetic AssociationZMYM2
Huge Navigator ZMYM2 [HugePedia]  ZMYM2 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneZMYM2
Homology/Alignments : Family Browser (UCSC)ZMYM2
Phylogenetic Trees/Animal Genes : TreeFamZMYM2
Chemical/Protein Interactions : CTD7750
Chemical/Pharm GKB GenePA37569
Clinical trialZMYM2
Cancer Resource (Charite)ENSG00000121741
Other databases
Probes
ProbeCancer Cytogenetics (Bari)
Litterature
PubMed53 Pubmed reference(s) in Entrez
CoreMineZMYM2
iHOPZMYM2
OncoSearchZMYM2

Bibliography

Fibroblast growth factor receptor 1 is fused to FIM in stem-cell myeloproliferative disorder with t(8;13).
Popovici C, Adˆ©laˆØde J, Ollendorff V, Chaffanet M, Guasch G, Jacrot M, Leroux D, Birnbaum D, Pˆ©busque MJ
Proceedings of the National Academy of Sciences of the United States of America. 1998 ; 95 (10) : 5712-5717.
PMID 9576949
 
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, Hamoudi R, Clark J, Warren W, Abdul-Rauf M, Somers G, Venter D, Fagan K, Cooper C, Shipley J
Human molecular genetics. 1998 ; 7 (4) : 637-642.
PMID 9499416
 
FGFR1 is fused with a novel zinc-finger gene, ZNF198, in the t(8;13) leukaemia/lymphoma syndrome.
Xiao S, Nalabolu SR, Aster JC, Ma J, Abruzzo L, Jaffe ES, Stone R, Weissman SM, Hudson TJ, Fletcher JA
Nature genetics. 1998 ; 18 (1) : 84-87.
PMID 9425908
 
Characterization of FIM-FGFR1, the fusion product of the myeloproliferative disorder-associated t(8;13) translocation.
Ollendorff V, Guasch G, Isnardon D, Galindo R, Birnbaum D, Pˆ©busque MJ
The Journal of biological chemistry. 1999 ; 274 (38) : 26922-26930.
PMID 10480903
 
ZNF198-FGFR1 transforming activity depends on a novel proline-rich ZNF198 oligomerization domain.
Xiao S, McCarthy JG, Aster JC, Fletcher JA
Blood. 2000 ; 96 (2) : 699-704.
PMID 10887137
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written03-1998Jean-Loup Huret, Dominique Leroux
Department of Genetics, University Joseph Fourier, Grenoble, France
Updated01-2001Marie-Joséphe Pébusque

Citation

This paper should be referenced as such :
Pébusque, MJ
FIM (fused in myeloproliferative disorders).
Atlas Genet Cytogenet Oncol Haematol. 2001;5(1):27-28.
Free online version   Free pdf version   [Bibliographic record ]
History of this paper:
Pébusque, MJ. FIM (fused in myeloproliferative disorders).. Atlas Genet Cytogenet Oncol Haematol. 2001;5(1):27-28.
http://documents.irevues.inist.fr/bitstream/2042/37698/1/01-2001-ZNF198ID114.pdf
URL : http://AtlasGeneticsOncology.org/Genes/ZNF198ID114.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Aug 26 15:27:30 CEST 2014

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