ZMYM2 (fused in myeloproliferative disorders).

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ZMYM2 (fused in myeloproliferative disorders).

2001-01-01 Marie-Joséphe Pébusque Affiliation

Identity

HGNC

LOCATION

13q12.11

IMAGE

Atlas Image

LEGEND

FIM (13q12) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.

LOCUSID

ALIAS

FIM,MYM,RAMP,SCLL,ZNF198

FUSION GENES

Show Gene Fusions

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

Atlas Image

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)

Atlas Image

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

Gene ID	Transcript ID	Uniprot
ENSG00000121741	ENST00000382871	Q9UBW7
ENSG00000121741	ENST00000382871	A0A024RDS3
ENSG00000121741	ENST00000382874	Q9UBW7
ENSG00000121741	ENST00000382874	A0A024RDS3
ENSG00000121741	ENST00000610343	Q9UBW7
ENSG00000121741	ENST00000610343	A0A024RDS3
ENSG00000121741	ENST00000620447	A0A087X151

Expression (GTEx)

0

5

10

15

20

25

30

35

40

45

50

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Disease	REACTOME	R-HSA-1643685
Diseases of signal transduction	REACTOME	R-HSA-5663202
Signaling by FGFR in disease	REACTOME	R-HSA-1226099
Signaling by FGFR1 in disease	REACTOME	R-HSA-5655302
FGFR1 mutant receptor activation	REACTOME	R-HSA-1839124
Signaling by cytosolic FGFR1 fusion mutants	REACTOME	R-HSA-1839117

Protein levels (Protein atlas)

Not detected

Low

Medium

High

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/img/haematological-explorer/js/_common.js

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)