MN1 (meningioma 1)
1997-10-01 Jean-Loup Huret AffiliationGenetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
Identity
HGNC
LOCATION
22q12.1
LOCUSID
ALIAS
CEBALID,MGCR,MGCR1,MGCR1-PEN,dJ353E16.2
FUSION GENES
DNA/RNA
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
Proteins
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
Implicated in
Entity name
Disease
M4 AML and other myeloid malignancies (MDS ...)
Prognosis
yet uncertain; median survival 2yrs
Cytogenetics
additional anomalies: +8
Hybrid gene
5 MN1 - 3 ETV6
Fusion 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 name
meningioma (some of them)
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 7731705 | 1995 | 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 et al |
| 7731706 | 1995 | Cloning and characterization of MN1, a gene from chromosome 22q11, which is disrupted by a balanced translocation in a meningioma. | Lekanne Deprez RH et al |
Other Information
Locus ID:
NCBI: 4330
MIM: 156100
HGNC: 7180
Ensembl: ENSG00000169184
Variants:
dbSNP: 4330
ClinVar: 4330
TCGA: ENSG00000169184
COSMIC: MN1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000169184 | ENST00000302326 | Q10571 |
| ENSG00000169184 | ENST00000302326 | A0A024R1C3 |
| ENSG00000169184 | ENST00000424656 | H7C105 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38546519 | 2024 | Distinctive Craniofacial and Oral Anomalies in MN1 C-terminal Truncation Syndrome. | 0 |
| 38956580 | 2024 | Variants in HCFC1 and MN1 genes causing intellectual disability in two Pakistani families. | 0 |
| 38546519 | 2024 | Distinctive Craniofacial and Oral Anomalies in MN1 C-terminal Truncation Syndrome. | 0 |
| 38956580 | 2024 | Variants in HCFC1 and MN1 genes causing intellectual disability in two Pakistani families. | 0 |
| 36604386 | 2023 | Early ependymal tumor with MN1-BEND2 fusion: a mostly cerebral tumor of female children with a good prognosis that is distinct from classical astroblastoma. | 3 |
| 36604386 | 2023 | Early ependymal tumor with MN1-BEND2 fusion: a mostly cerebral tumor of female children with a good prognosis that is distinct from classical astroblastoma. | 3 |
| 34708882 | 2022 | Novel truncating variant of MN1 penultimate exon identified in a Chinese patient with newly recognized MN1 C-terminal truncation syndrome: Case report and literature review. | 2 |
| 35810559 | 2022 | METTL14-mediated epitranscriptome modification of MN1 mRNA promote tumorigenicity and all-trans-retinoic acid resistance in osteosarcoma. | 17 |
| 34708882 | 2022 | Novel truncating variant of MN1 penultimate exon identified in a Chinese patient with newly recognized MN1 C-terminal truncation syndrome: Case report and literature review. | 2 |
| 35810559 | 2022 | METTL14-mediated epitranscriptome modification of MN1 mRNA promote tumorigenicity and all-trans-retinoic acid resistance in osteosarcoma. | 17 |
| 33105486 | 2021 | MN1 overexpression with varying tumor grade is a promising predictor of survival of glioma patients. | 5 |
| 33242229 | 2021 | Prognostic significance of combined BAALC and MN1 gene expression level in acute myeloid leukemia with normal karyotype. | 1 |
| 33913040 | 2021 | Unique pathological findings of astroblastoma with MN1 alteration in a patient with late recurrence. | 2 |
| 33974912 | 2021 | Intrinsically disordered Meningioma-1 stabilizes the BAF complex to cause AML. | 14 |
| 33105486 | 2021 | MN1 overexpression with varying tumor grade is a promising predictor of survival of glioma patients. | 5 |
Citation
Jean-Loup Huret
MN1 (meningioma 1)
Atlas Genet Cytogenet Oncol Haematol. 1997-10-01
Online version: http://atlasgeneticsoncology.org/gene/56
