Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4221
Gene name Gene Name - the full gene name approved by the HGNC.
Menin 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MEN1
Synonyms (NCBI Gene) Gene synonyms aliases
MEAI, SCG2
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q13.1
Summary Summary 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
SNPs SNP 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
miRNA miRNA 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, 22327296, 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
GO:0000403 Function Y-form DNA binding IDA 15331604
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
613733 7010 ENSG00000133895
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
Tissue specificity TISSUE SPECIFICITY: Ubiquitous.
Sequence
Sequence length 615
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Hyperparathyroidism hyperparathyroidism 1 rs863223311 N/A
Hyperthyroidism Primary hyperparathyroidism rs869312167 N/A
Multiple Endocrine Neoplasia Multiple endocrine neoplasia, type 1, multiple endocrine neoplasia rs386134250, rs1114167519, rs1060499974, rs1555163780, rs1592643178, rs794728647, rs1555166365, rs1565651223, rs398124435, rs104894261, rs1064793613, rs1941733228, rs878855196, rs1060499984, rs886039413
View all (190 more)
N/A
somatotroph adenoma Somatotroph adenoma rs1565635212, rs972128957 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
hereditary cancer Hereditary cancer N/A N/A ClinVar
Hereditary Pheochromocytoma-Paraganglioma hereditary pheochromocytoma-paraganglioma N/A N/A GenCC
Neuroblastoma neuroblastoma N/A N/A ClinVar
ovarian cancer Ovarian cancer N/A N/A ClinVar
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acromegaly Associate 20454499, 33125695, 9709921
Acth Independent Macronodular Adrenal Hyperplasia Associate 19509103
ACTH Secreting Pituitary Adenoma Associate 29927501
Adenocarcinoma Follicular Associate 34171097
Adenoma Associate 23321498, 32759398
Adenoma Islet Cell Associate 20616437
Adrenal Cortex Neoplasms Associate 21655742
Adrenocortical Carcinoma Associate 21655742, 25034529, 25078331
Alopecia Neurologic Defects and Endocrinopathy Syndrome Associate 28066056
Angiofibroma Associate 11200937, 37484956