MN1 (meningioma 1)

Written1997-10Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)

1. Identity

General Information
meningioma chromosome region
meningioma (disrupted in balanced translocation) 1
Alias_symbol (synonym)MGCR1-PEN
Other alias
HGNC (Hugo) MN1
LocusID (NCBI) 4330
Atlas_Id 56
Location 22q12.1  [Link to chromosome band 22q12]
Location_base_pair Starts at 27748277 and ends at 27801498 bp from pter ( according to hg19-Feb_2009)  [Mapping MN1.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)
ATAD5 (17q11.2) / MN1 (22q12.1)ETV6 (12p13.2) / MN1 (22q12.1)MN1 (22q12.1) / BCL6 (3q27.3)
MN1 (22q12.1) / ETV6 (12p13.2)MN1 (22q12.1) / FLI1 (11q24.3)ZMYND8 (20q13.12) / MN1 (22q12.1)


Description 2 exons at least, the first being very CG rich and with CAG repeats; spans about 70 kb
Transcription alternate splicing: 4.5 and 8 kb mRNA; coding sequence: 4.0 kb

3. Protein

Description 1319 and 1342 amino acids; glutamine and prolin rich (may function as transactivation domains)
Expression ubiquitously expressed; high expression in muscle, low otherwise
Function transcriptionnal regulator

4. Implicated in

Entity t(12;22)(p13;q11) /myeloid malignancies --> MN1-ETV6
Disease M4 AML and other myeloid malignancies (MDS ...)
Prognosis yet uncertain; median survival 2yrs
Cytogenetics additional anomalies: +8
Hybrid/Mutated Gene 5' MN1 - 3' ETV6
Abnormal Protein N-term MN1 and most of it, comprising the glutamine/proline rich domain, fused to the DNA binding of ETV6 in C-term; nuclear protein
Oncogenesis may act as an altered transcription factor
Entity meningioma (some of them)

5. Bibliography

Translocation (12;22) (p13;q11) in myeloproliferative disorders results in fusion of the ETS-like TEL gene on 12p13 to the MN1 gene on 22q11.
Buijs A, Sherr S, van Baal S, van Bezouw S, van der Plas D, Geurts van Kessel A, Riegman P, Lekanne Deprez R, Zwarthoff E, Hagemeijer A
Oncogene. 1995 ; 10 (8) : 1511-1519.
PMID 7731705
Cloning and characterization of MN1, a gene from chromosome 22q11, which is disrupted by a balanced translocation in a meningioma.
Lekanne Deprez RH, Riegman PH, Groen NA, Warringa UL, van Biezen NA, Molijn AC, Bootsma D, de Jong PJ, Menon AG, Kley NA
Oncogene. 1995 ; 10 (8) : 1521-1528.
PMID 7731706

6. Citation

This paper should be referenced as such :
Huret, JL
MN1 (meningioma 1)
Atlas Genet Cytogenet Oncol Haematol. 1997;1(2):48-48.
Free journal version : [ pdf ]   [ DOI ]
On line version :

7. Other Leukemias implicated (Data extracted from papers in the Atlas) [ 2 ]

  t(12;22)(p13;q12) MN1/ETV6
t(11;22)(q24;q12) MN1/FLI1

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(20;22)(q13;q12) ZMYND8/MN1

8. External links

HGNC (Hugo)MN1   7180
Entrez_Gene (NCBI)MN1  4330  MN1 proto-oncogene, transcriptional regulator
AliasesMGCR; MGCR1; MGCR1-PEN; dJ353E16.2
GeneCards (Weizmann)MN1
Ensembl hg19 (Hinxton)ENSG00000169184 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000169184 [Gene_View] &nbspENSG00000169184 [Sequence]  chr22:27748277-27801498 [Contig_View]  MN1 [Vega]
ICGC DataPortalENSG00000169184
TCGA cBioPortalMN1
AceView (NCBI)MN1
Genatlas (Paris)MN1
SOURCE (Princeton)MN1
Genetics Home Reference (NIH)MN1
Genomic and cartography
GoldenPath hg38 (UCSC)MN1  -     chr22:27748277-27801498 -  22q12.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MN1  -     22q12.1   [Description]    (hg19-Feb_2009)
EnsemblMN1 - 22q12.1 [CytoView hg19]  MN1 - 22q12.1 [CytoView hg38]
Mapping of homologs : NCBIMN1 [Mapview hg19]  MN1 [Mapview hg38]
OMIM156100   607174   
Gene and transcription
Genbank (Entrez)AK307152 X82209 Z70218
RefSeq transcript (Entrez)NM_002430
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MN1
Cluster EST : UnigeneHs.268515 [ NCBI ]
CGAP (NCI)Hs.268515
Alternative Splicing GalleryENSG00000169184
Gene ExpressionMN1 [ NCBI-GEO ]   MN1 [ EBI - ARRAY_EXPRESS ]   MN1 [ SEEK ]   MN1 [ MEM ]
Gene Expression Viewer (FireBrowse)MN1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets] &nbsp [Normal Tissue Atlas] &nbsp[carcinoma Classsification] &nbsp[NCI60]
GenevestigatorExpression in : [tissues] &nbsp[cell-lines] &nbsp[cancer] &nbsp[perturbations] &nbsp
BioGPS (Tissue expression)4330
GTEX Portal (Tissue expression)MN1
Human Protein AtlasENSG00000169184-MN1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ10571   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ10571  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ10571
Splice isoforms : SwissVarQ10571
Domains : Interpro (EBI)MN1   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)MN1
DMDM Disease mutations4330
Blocks (Seattle)MN1
Human Protein Atlas [tissue]ENSG00000169184-MN1 [tissue]
Peptide AtlasQ10571
IPIIPI00477642   IPI00878359   
Protein Interaction databases
IntAct (EBI)Q10571
Ontologies - Pathways
Ontology : AmiGOintramembranous ossification  molecular_function  cellular_component  regulation of transcription, DNA-templated  multicellular organism development  biological_process  
Ontology : EGO-EBIintramembranous ossification  molecular_function  cellular_component  regulation of transcription, DNA-templated  multicellular organism development  biological_process  
NDEx NetworkMN1
Atlas of Cancer Signalling NetworkMN1
Wikipedia pathwaysMN1
Orthology - Evolution
GeneTree (enSembl)ENSG00000169184
Phylogenetic Trees/Animal Genes : TreeFamMN1
Homologs : HomoloGeneMN1
Homology/Alignments : Family Browser (UCSC)MN1
Gene fusions - Rearrangements
Fusion : MitelmanMN1/ETV6 [22q12.1/12p13.2] &nbsp
Fusion : MitelmanMN1/FLI1 [22q12.1/11q24.3] &nbsp[t(11;22)(q24;q12)]  
Fusion : MitelmanZMYND8/MN1 [20q13.12/22q12.1] &nbsp[t(20;22)(q13;q12)]  
Fusion : COSMICETV6 [MN1]  -  2403 [2406]  [fusion_2407]  [fusion_2408]  
Fusion : COSMICMN1 [ETV6]  -  2401 [2402]  [fusion_2404]  [fusion_2405]  
Fusion PortalZMYND8 20q13.12 MN1 22q12.1 BRCA
Fusion : TICdbMN1 [22q12.1]  -  ETV6 [12p13.2]
Fusion : QuiverMN1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMN1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MN1
Exome Variant ServerMN1
ExAC (Exome Aggregation Consortium)ENSG00000169184
GNOMAD BrowserENSG00000169184
Varsome BrowserMN1
Genetic variants : HAPMAP4330
Genomic Variants (DGV)MN1 [DGVbeta]
DECIPHERMN1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMN1 
ICGC Data PortalMN1 
TCGA Data PortalMN1 
Broad Tumor PortalMN1
OASIS PortalMN1 [ Somatic mutations - Copy number]
Cancer Gene: CensusMN1 
Somatic Mutations in Cancer : COSMICMN1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMN1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch MN1
DgiDB (Drug Gene Interaction Database)MN1
DoCM (Curated mutations)MN1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MN1 (select a term)
NCG5 (London)MN1
Cancer3DMN1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
OMIM156100    607174   
Genetic Testing Registry MN1
NextProtQ10571 [Medical]
Target ValidationMN1
Huge Navigator MN1 [HugePedia]
snp3D : Map Gene to Disease4330
BioCentury BCIQMN1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4330
Chemical/Pharm GKB GenePA30893
Clinical trialMN1
canSAR (ICR)MN1 (select the gene name)
DataMed IndexMN1
PubMed42 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Jan 17 19:01:36 CET 2019

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