MN1 (meningioma 1)

1997-10-01   Jean-Loup Huret  

Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Identity

HGNC
MN1
LOCATION
22q12.1
LOCUSID
4330
ALIAS
CEBALID,MGCR,MGCR1,MGCR1-PEN,dJ353E16.2
FUSION GENES
Show Gene Fusions

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
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 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 IDLast YearTitleAuthors
77317051995Translocation (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
77317061995Cloning 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 IDTranscript IDUniprot
ENSG00000169184ENST00000302326Q10571
ENSG00000169184ENST00000302326A0A024R1C3
ENSG00000169184ENST00000424656H7C105

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

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
385465192024Distinctive Craniofacial and Oral Anomalies in MN1 C-terminal Truncation Syndrome.0
389565802024Variants in HCFC1 and MN1 genes causing intellectual disability in two Pakistani families.0
385465192024Distinctive Craniofacial and Oral Anomalies in MN1 C-terminal Truncation Syndrome.0
389565802024Variants in HCFC1 and MN1 genes causing intellectual disability in two Pakistani families.0
366043862023Early ependymal tumor with MN1-BEND2 fusion: a mostly cerebral tumor of female children with a good prognosis that is distinct from classical astroblastoma.3
366043862023Early ependymal tumor with MN1-BEND2 fusion: a mostly cerebral tumor of female children with a good prognosis that is distinct from classical astroblastoma.3
347088822022Novel 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
358105592022METTL14-mediated epitranscriptome modification of MN1 mRNA promote tumorigenicity and all-trans-retinoic acid resistance in osteosarcoma.17
347088822022Novel 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
358105592022METTL14-mediated epitranscriptome modification of MN1 mRNA promote tumorigenicity and all-trans-retinoic acid resistance in osteosarcoma.17
331054862021MN1 overexpression with varying tumor grade is a promising predictor of survival of glioma patients.5
332422292021Prognostic significance of combined BAALC and MN1 gene expression level in acute myeloid leukemia with normal karyotype.1
339130402021Unique pathological findings of astroblastoma with MN1 alteration in a patient with late recurrence.2
339749122021Intrinsically disordered Meningioma-1 stabilizes the BAF complex to cause AML.14
331054862021MN1 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/mn1-(meningioma-1)