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MEN1 (menin 1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4221
Gene nameGene Name - the full gene name approved by the HGNC.
Menin 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
MEN1
SynonymsGene synonyms aliases
MEAI, SCG2
ChromosomeChromosome number
11
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q13.1
SummarySummary of gene provided in NCBI Entrez Gene.
This gene encodes menin, a tumor suppressor associated with a syndrome known as multiple endocrine neoplasia type 1. Menin is a scaffold protein that functions in histone modification and epigenetic gene regulation. It is thought to regulate several pathw
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs607969 C>G,T Benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance Missense variant, coding sequence variant
rs28931612 C>A,T Pathogenic, uncertain-significance, likely-pathogenic Coding sequence variant, stop gained, missense variant
rs77461664 G>A,C,T Uncertain-significance, benign, likely-benign, conflicting-interpretations-of-pathogenicity Intron variant
rs104894256 A>C Pathogenic, likely-pathogenic Missense variant, coding sequence variant
rs104894257 C>T Pathogenic Stop gained, coding sequence variant, intron variant
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT050813 hsa-miR-17-5p CLASH 23622248
MIRT049455 hsa-miR-92a-3p CLASH 23622248
MIRT040940 hsa-miR-18a-3p CLASH 23622248
MIRT054288 hsa-miR-24-3p Luciferase reporter assay, Northern blot, qRT-PCR, Western blot 22761894
MIRT455061 hsa-miR-3141 PAR-CLIP 23592263
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 9989505, 12837246, 23784080
GO:0000165 Process MAPK cascade IDA 12226747
GO:0000400 Function Four-way junction DNA binding IDA 15331604
GO:0000403 Function Y-form DNA binding IBA 21873635
GO:0000403 Function Y-form DNA binding IDA 15331604
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID O00255
Protein name Menin
Protein function Essential component of a MLL/SET1 histone methyltransferase (HMT) complex, a complex that specifically methylates 'Lys-4' of histone H3 (H3K4). Functions as a transcriptional regulator. Binds to the TERT promoter and represses telomerase express
PDB 3U84 , 3U85 , 3U86 , 3U88 , 4GPQ , 4GQ3 , 4GQ4 , 4GQ6 , 4I80 , 4OG3 , 4OG4 , 4OG5 , 4OG6 , 4OG7 , 4OG8 , 4X5Y , 4X5Z , 5DB0 , 5DB1 , 5DB2 , 5DB3 , 5DD9 , 5DDA , 5DDB , 5DDC , 5DDD , 5DDE , 5DDF , 6B41 , 6BXH , 6BXY , 6BY8 , 6E1A , 6O5I , 6OPJ , 6PKC , 6S2K , 6WNH , 7M4T , 7O9T , 7O9X , 7O9Z , 7OA9 , 7UJ4 , 8E90 , 8GPN , 8IG0 , 8VA5 , 8VA6 , 9C92 , 9C93
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05053 Menin
1 516
Menin
Family
PF05053 Menin
526 613
Menin
Family
Sequence
Sequence length 615
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
Reactome
  Cushing syndrome
Transcriptional misregulation in cancer
  Formation of the beta-catenin:TCF transactivating complex
SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription
Deactivation of the beta-catenin transactivating complex
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
RHO GTPases activate IQGAPs
Post-translational protein phosphorylation
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Adrenocortical adenoma Adrenal Cortical Adenoma rs121913035
Adrenocortical carcinoma Adrenocortical carcinoma rs121912656, rs28934874, rs121912662, rs786202525, rs121912664, rs397516435, rs121913343, rs587780070, rs121912666, rs55832599, rs587782144, rs587782272, rs587782529, rs587782620, rs587782664, rs587782705, rs193920817, rs55863639, rs730882029, rs730882005, rs730882025, rs730881999, rs786201838, rs786202962, rs863224451, rs863224499, rs760043106, rs11540652, rs11540654, rs876658483, rs587781525, rs1057519986, rs1057519989, rs530941076, rs1060501197, rs1064792930, rs1064794618, rs1131691042, rs1555526131, rs1057519990, rs1555526097, rs1567554500, rs1131691039, rs1202793339, rs769697802 24747642
Angiofibroma Angiofibroma rs121913034, rs267607234
Carcinoma Carcinoma, Neuroendocrine rs121912654, rs555607708, rs786202962, rs1564055259
Unknown
Disease name Disease term dbSNP ID References
Abducens palsy Abducens Nerve Palsy
Adenoma sebaceum Fibrous skin tumor of tuberous sclerosis
Adrenal neoplasia Adrenal Gland Neoplasms
Adrenocorticotropic hormone deficiency Adrenocorticotropic hormone (ACTH) deficiency (disorder)

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