Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4330
Gene name Gene Name - the full gene name approved by the HGNC.
MN1 proto-oncogene, transcriptional regulator
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MN1
Synonyms (NCBI Gene) Gene synonyms aliases
CEBALID, MGCR, MGCR1, MGCR1-PEN, dJ353E16.2
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CEBALID
Chromosome Chromosome number
22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q12.1
Summary Summary of gene provided in NCBI Entrez Gene.
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]
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs147334255 G>A Uncertain-significance, pathogenic, likely-pathogenic Coding sequence variant, stop gained
rs761317200 C>A,T Pathogenic Coding sequence variant, missense variant, stop gained
rs1568986066 C>- Likely-pathogenic Coding sequence variant, frameshift variant
rs1568986076 TAATG>- Likely-pathogenic Coding sequence variant, frameshift variant
rs1601319501 C>T Pathogenic, likely-pathogenic Coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT006181 hsa-miR-15a-5p Luciferase reporter assay, Microarray, Northern blot, qRT-PCR, Western blot 21880628
MIRT006181 hsa-miR-15a-5p Luciferase reporter assay, Microarray, Northern blot, qRT-PCR, Western blot 21880628
MIRT006181 hsa-miR-15a-5p Luciferase reporter assay, Microarray, Northern blot, qRT-PCR, Western blot 21880628
MIRT006181 hsa-miR-15a-5p Luciferase reporter assay, Microarray, Northern blot, qRT-PCR, Western blot 21880628
MIRT006181 hsa-miR-15a-5p Luciferase reporter assay, Microarray, Northern blot, qRT-PCR, Western blot 21880628
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001957 Process Intramembranous ossification IEA
GO:0003674 Function Molecular_function ND
GO:0005515 Function Protein binding IPI 31839203
GO:0005634 Component Nucleus IDA 31839203
GO:0006355 Process Regulation of transcription, DNA-templated IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
156100 7180 ENSG00000169184
Protein
UniProt ID Q10571
Protein name Transcriptional activator MN1 (Probable tumor suppressor protein MN1)
Protein function Transcriptional activator which specifically regulates expression of TBX22 in the posterior region of the developing palate. Required during later stages of palate development for growth and medial fusion of the palatal shelves. Promotes maturat
Family and domains
Tissue specificity TISSUE SPECIFICITY: Widely expressed in fetal and adult tissues. Highest expression is observed in fetal brain and skeletal muscle, and adult skeletal muscle. {ECO:0000269|PubMed:31839203}.
Sequence
MFGLDQFEPQVNSRNAGQGERNFNETGLSMNTHFKAPAFHTGGPPGPVDPAMSALGEPPI
LGMNMEPYGFHARGHSELHAGGLQAQPVHGFFGGQQPHHGHPGSHHPHQHHPHFGGNFGG
PDPGASCLHGGRLLGYGGAAGGLGSQPPFAEGYEHMAESQGPESFGPQRPGNLPDFHSSG
ASSHAVPAPCLPLDQSPNRAASFHGLPSSSGSDSHSLEPRRVTNQGAVDSLEYNYPGEAP
SGHFDMFSPSDSEGQLPHYAAGRQVPGGAFPGASAMPRAAGMVGLSKMHAQPPQQQPQQQ
QQPQQQQQQHGVFFERFSGARKMPVGLEPSVGSRHPLMQPPQQAPPPPQQQPPQQPPQQQ
PPPPPGLLVRQNSCPPALPRPQQGEAGTPSGGLQDGGPMLPSQHAQFEYPIHRLENRSMH
PYSEPVFSMQHPPPQQAPNQRLQHFDAPPYMNVAKRPRFDFPGSAGVDRCASWNGSMHNG
ALDNHLSPSAYPGLPGEFTPPVPDSFPSGPPLQHPAPDHQSLQQQQQQQQQQQQQQQQQQ
QQQQQQQQQQRQNAALMIKQMASRNQQQRLRQPNLAQLGHPGDVGQGGLVHGGPVGGLAQ
PNFEREGGSTGAGRLGTFEQQAPHLAQESAWFSGPHPPPGDLLPRRMGGSGLPADCGPHD
PSLAPPPPPGGSGVLFRGPLQEPMRMPGEGHVPALPSPGLQFGGSLGGLGQLQSPGAGVG
LPSAASERRPPPPDFATSALGGQPGFPFGAAGRQSTPHSGPGVNSPPSAGGGGGSSGGGG
GGGAYPPQPDFQPSQRTSASKLGALSLGSFNKPSSKDNLFGQSCLAALSTACQNMIASLG
APNLNVTFNKKNPPEGKRKLSQNETDGAAVAGNPGSDYFPGGTAPGAPGPGGPSGTSSSG
SKASGPPNPPAQGDGTSLSPNYTLESTSGNDGKPVSGGGGRGRGRRKRDSGHVSPGTFFD
KYSAAPDSGGAPGVSPGQQQASGAAVGGSSAGETRGAPTPHEKALTSPSWGKGAELLLGD
QPDLIGSLDGGAKSDSSSPNVGEFASDEVSTSYANEDEVSSSSDNPQALVKASRSPLVTG
SPKLPPRGVGAGEHGPKAPPPALGLGIMSNSTSTPDSYGGGGGPGHPGTPGLEQVRTPTS
SSGAPPPDEIHPLEILQAQIQLQRQQFSISEDQPLGLKGGKKGECAVGASGAQNGDSELG
SCCSEAVKSAMSTIDLDSLMAEHSAAWYMPADKALVDSADDDKTLAPWEKAKPQNPNSKE
AHDLPANKASASQPGSHLQCLSVHCTDDVGDAKARASVPTWRSLHSDISNRFGTFVAALT
Sequence length 1320
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Breast carcinoma Breast Carcinoma rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451
View all (71 more)
29059683
Chordoma Chordoma rs80359391
Craniosynostosis Craniosynostosis rs104893895, rs587777006, rs587777007, rs587777008, rs587777010, rs864321680, rs864321681, rs1057517670, rs1064794325, rs1555750816, rs1599823350 15870292
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
15870292
Unknown
Disease term Disease name Evidence References Source
Breast Cancer Breast Cancer Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients GWAS, CBGDA
Oligodendroglioma Oligodendroglioma GWAS
Associations from Text Mining
Disease Name Relationship Type References
Alport Syndrome Mental Retardation Midface Hypoplasia and Elliptocytosis Associate 31834374
Astrocytoma Associate 26894859, 28960623, 30876455
Brain Diseases Associate 31839203
Brain Neoplasms Associate 34417833
Breast Neoplasms Associate 26070530
Carcinoma Adenosquamous Associate 31958074
Central Nervous System Infections Associate 28960623, 29348602
Chromosome 10 monosomy 10q Associate 28960623
Chromosome 7 trisomy mosaic Associate 28960623
Cleft Palate Associate 31834374