MEN1 Gene (Menin): Multiple Endocrine Neoplasia Type 1
Tumor suppressor gene encoding menin, a scaffold protein regulating gene transcription, genome stability, and cell proliferation.
Gene Information Card
| Symbol | MEN1 |
|---|---|
| Full Name | Menin 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q13.1 |
| NCBI Gene ID | 4221 ncbi.nlm.nih.gov/gene/4221 |
| Ensembl ID | ENSG00000133895 |
| UniProt ID | O00255 |
| OMIM ID | 131100 |
| HGNC ID | HGNC:7010 |
| Aliases | SCG2; MEIP; MEN1; menin |
Description
The MEN1 gene encodes menin, a 610-amino acid nuclear scaffold protein that acts as a tumor suppressor. Menin is involved in transcriptional regulation, chromatin remodeling, cell cycle control, and genome stability. Loss-of-function mutations in MEN1 cause multiple endocrine neoplasia type 1 (MEN1 syndrome), characterized by tumors of the parathyroid, pituitary, and pancreatic islets. Menin interacts with various partners including JunD, NF-κB, and histone-modifying complexes to regulate gene expression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Multiple Endocrine Neoplasia Type 1 (MEN1) | Loss-of-function mutations (germline or somatic) lead to haploinsufficiency or complete loss of menin, disrupting transcriptional repression and promoting tumorigenesis in endocrine tissues. | ClinVar, OMIM |
| Parathyroid Adenoma | Somatic MEN1 mutations or loss of heterozygosity at 11q13 result in menin inactivation, leading to hyperparathyroidism. | COSMIC, ClinVar |
| Pancreatic Neuroendocrine Tumors | Menin loss alters expression of genes involved in cell cycle and apoptosis, contributing to tumor formation in pancreatic islets. | COSMIC, ClinVar |
| Pituitary Adenomas | Menin inactivation disrupts normal pituitary cell growth control, leading to adenoma development. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Thymus | 15.6 | Low |
| Pancreas | 12.3 | Low |
| Parathyroid | 10.8 | Low |
| Pituitary | 9.5 | Low |
| Adrenal gland | 8.2 | Low |
| Testis | 7.1 | Low |
| Kidney | 6.4 | Low |
| Liver | 5.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 18.5 | Cervical cancer cell line; moderate expression |
| A549 | 15.2 | Lung carcinoma; moderate expression |
| MCF7 | 12.8 | Breast cancer; moderate expression |
| HEK293 | 10.1 | Embryonic kidney; low expression |
| K562 | 8.3 | Leukemia; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1546dupC (p.His516Profs*27) | Frameshift | Germline (familial MEN1) | Truncated menin, loss of function |
| c.249_252delGTCT (p.Ser84Argfs*33) | Frameshift | Somatic (sporadic tumors) | Loss of function |
| c.628C>T (p.Arg210*) | Nonsense | Germline | Premature stop codon, loss of function |
| c.1A>G (p.Met1?) | Missense | Germline | Loss of start codon, no protein |
| c.654+1G>A | Splice site | Somatic | Aberrant splicing, loss of function |
Mutation functional classification
Loss of Function (LOF)
Most MEN1 mutations are loss-of-function, leading to reduced or absent menin protein. This disrupts tumor suppressor activity, allowing uncontrolled cell proliferation in endocrine tissues.
Gain of Function (GOF)
No gain-of-function mutations have been reported for MEN1; the gene acts exclusively as a tumor suppressor.
Dominant Negative (DN)
Some missense mutations may exert dominant-negative effects by interfering with menin's interaction partners, but most mutations cause haploinsufficiency or complete loss.
View complete mutation data：
Gene Ontology (GO)
| • DNA binding | • Transcription factor binding |
| • Histone methyltransferase activity | • Chromatin binding |
| • Protein binding | • Regulation of transcription by RNA polymerase II |
| • Cell cycle arrest | • Apoptotic process |
| • Negative regulation of cell proliferation | • DNA damage response |
Pathways
• Cell cycle regulation
• Apoptosis signaling
• Transcriptional regulation by menin
• Histone modification
• DNA damage response
Protein Summary
Menin is a 610-amino acid protein with a molecular weight of ~68 kDa. It is predominantly nuclear and contains several nuclear localization signals. Menin acts as a scaffold protein, interacting with transcription factors (e.g., JunD, NF-κB) and chromatin modifiers (e.g., MLL histone methyltransferase complex). It regulates gene expression by modulating histone methylation and chromatin structure. Menin is essential for normal development and tissue homeostasis, particularly in endocrine organs. Loss of menin leads to genomic instability and tumorigenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KREMEN1 Knockout HEK293T Cell Line | EDJ-KQ165 | Human | 83999 | Details Get a Quote |
| MEN1 Knockout HEK293 Cell Line | EDJ-KQ3213 | Human | 4221 | Details Get a Quote |
| KREMEN1 Knockout HEK293 Cell Line | EDJ-KQ13972 | Human | 83999 | Details Get a Quote |
| MEN1 Knockout A-549 Cell Line | EDJ-KQ26048 | Human | 4221 | Details Get a Quote |
| MEN1 Knockout HCT 116 Cell Line | EDJ-KQ26049 | Human | 4221 | Details Get a Quote |
| MEN1 Knockout HeLa Cell Line | EDJ-KQ26050 | Human | 4221 | Details Get a Quote |
| KREMEN1 Knockout A-549 Cell Line | EDJ-KQ43911 | Human | 83999 | Details Get a Quote |
| KREMEN1 Knockout HCT 116 Cell Line | EDJ-KQ43912 | Human | 83999 | Details Get a Quote |
| KREMEN1 Knockout NCI-H1299 Cell Line | EDJ-KZ32 | Human | 83999 | Details Get a Quote |
| KREMEN1 Knockout RKO Cell Line | EDJ-KZ320 | Human | 83999 | Details Get a Quote |
| KREMEN1 Knockout HeLa Cell Line | EDJ-KQ57519 | Human | 83999 | Details Get a Quote |
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