MN1 MN1 proto-oncogene, transcriptional regulator [Homo sapiens (human)] - Gene

Summary

Official Symbol: MN1provided by HGNC
Official Full Name: MN1 proto-oncogene, transcriptional regulatorprovided by HGNC
Primary source: HGNC:HGNC:7180
See related: Ensembl:ENSG00000169184 MIM:156100; AllianceGenome:HGNC:7180
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MGCR; MGCR1; CEBALID; MGCR1-PEN; dJ353E16.2
Summary: Meningioma 1 (MN1) contains two sets of CAG repeats. It is disrupted by a balanced translocation (4;22) in a meningioma, and its inactivation may contribute to meningioma 32 pathogenesis. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in brain (RPKM 2.3), esophagus (RPKM 2.2) and 21 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 22q12.1

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (27748277..27801756, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (28209592..28263071, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (28144265..28197744, complement)

Chromosome 22 - NC_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Distinctive Craniofacial and Oral Anomalies in MN1 C-terminal Truncation Syndrome.
Title: Distinctive Craniofacial and Oral Anomalies in MN1 C-terminal Truncation Syndrome.
Early ependymal tumor with MN1-BEND2 fusion: a mostly cerebral tumor of female children with a good prognosis that is distinct from classical astroblastoma.
Title: Early ependymal tumor with MN1-BEND2 fusion: a mostly cerebral tumor of female children with a good prognosis that is distinct from classical astroblastoma.
METTL14-mediated epitranscriptome modification of MN1 mRNA promote tumorigenicity and all-trans-retinoic acid resistance in osteosarcoma.
Title: METTL14-mediated epitranscriptome modification of MN1 mRNA promote tumorigenicity and all-trans-retinoic acid resistance in osteosarcoma.
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.
Title: 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.
Unique pathological findings of astroblastoma with MN1 alteration in a patient with late recurrence.
Title: Unique pathological findings of astroblastoma with MN1 alteration in a patient with late recurrence.
MN1 overexpression with varying tumor grade is a promising predictor of survival of glioma patients.
Title: MN1 overexpression with varying tumor grade is a promising predictor of survival of glioma patients.
Intrinsically disordered Meningioma-1 stabilizes the BAF complex to cause AML.
Title: Intrinsically disordered Meningioma-1 stabilizes the BAF complex to cause AML.
Prognostic significance of combined BAALC and MN1 gene expression level in acute myeloid leukemia with normal karyotype.
Title: Prognostic significance of combined BAALC and MN1 gene expression level in acute myeloid leukemia with normal karyotype.
Meningioma 1 is indispensable for mixed lineage leukemia-rearranged acute myeloid leukemia.
Title: Meningioma 1 is indispensable for mixed lineage leukemia-rearranged acute myeloid leukemia.
MN1 Linked to Syndrome Characterized by Craniofacial Abnormalities and Severe Developmental Delay.
Title: MN1 Linked to Syndrome Characterized by Craniofacial Abnormalities and Severe Developmental Delay.

Submit: New GeneRIF Correction See all GeneRIFs (48)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
CEBALID syndrome MedGen: C5394044 OMIM: 618774 GeneReviews: MN1 C-Terminal Truncation Syndrome	Compare labs
Familial meningioma MedGen: C3551915 OMIM: 607174 GeneReviews: MN1 C-Terminal Truncation Syndrome	Compare labs

EBI GWAS Catalog

Description
A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants. EBI GWAS Catalog EBI GWAS CatalogPubMed
Electronic medical records and genomics (eMERGE) network exploration in cataract: Several new potential susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Gene-Smoking Interactions Identify Several Novel Blood Pressure Loci in the Framingham Heart Study. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D22S631 (e-PCR)
- UniSTS:864

SHGC-31555 (e-PCR)
- UniSTS:31593

SHGC-63495 (e-PCR)
- UniSTS:12411

SW2612 (e-PCR), detects polymorphism
- UniSTS:252820

D22S535 (e-PCR), detects polymorphism
- UniSTS:149406

SHGC-133061 (e-PCR)
- UniSTS:173983

SHGC-63496 (e-PCR)
- UniSTS:95395

D22S968E (e-PCR)
- UniSTS:15022

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in intramembranous ossification	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of osteoblast proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of vitamin D receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
involved_in regulation of cell cycle G1/S phase transition	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: transcriptional activator MN1

Names: meningioma (disrupted in balanced translocation) 1; meningioma (translocation balanced); meningioma chromosome region 1; probable tumor suppressor protein MN1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.