Gene
MEN1
menin 1
- HGNC 7010↗(opens in a new tab)
- Ensembl gene ENSG00000133895↗(opens in a new tab)
- NCBI Gene 4221↗(opens in a new tab)
Summary
- Cytogenetic location
- 11q13.1
- Coordinates
- Chromosome 11: 64,803,516–64,810,551 (GRCh38)
- Exons
- 10 exons across 7 kb
- Protein
- 610 amino acids
- Inheritance
- Autosomal dominant
- MANE Select transcript
- ENST00000450708.7NM_001370259.2
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Malignant Endocrine Neoplasm
- Multiple Endocrine NeoplasiaAutosomal dominant
Multiple endocrine neoplasia (MEN) is a group of rare inherited cancer syndromes characterized by the development of two or more endocrine gland tumors, sometimes with tumor development in other tissues or organs.
- ClinGen rates the link definitive
- 3 GenCC submitters rate it definitive or strong
- On the ACMG secondary findings list
Thyroid Cancer
- Parathyroid Gland Disorder
A disease involving the parathyroid gland.
- ClinGen rates the link definitive
- 3 GenCC submitters rate it definitive or strong
- On the ACMG secondary findings list
Inheritance
- Autosomal dominant
- One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.
How MEN1 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
- Variants with a page
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 2.7 kb of the gene's 7 kb; 1,833 of those bases code for the protein.
How a genome test reads MEN1
504
positions in MEN1 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 7 kb of MEN1, introns included, not only the 2.7 kb of exons.
Variants with a page (103)
The MEN1 variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.
| Variant | HGVS c. | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|---|
| A176P | c.526G>C | Exon 3 | 64,808,019 | Pathogenic/likely pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A242Hfs*6 | c.723_724del | Exon 4 | 64,807,610 | Pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A242V | c.725C>T | Exon 4 | 64,807,610 | Pathogenic/likely pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A380Sfs*29 | c.1136dup | Exon 8 | 64,805,683 | Pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A467Gfs*59 | c.1400_1413del | Exon 10 | 64,804,753 | Pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A467Rfs*98 | c.1375_1391dup | Exon 10 | 64,804,775 | Pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| c.1A>G | Exon 2 | 64,810,109 | Pathogenic/likely pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1A>T | Exon 2 | 64,810,109 | Pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.3G>A | Exon 2 | 64,810,107 | Pathogenic/likely pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.196_200dup | Exon 2 | 64,809,909 | Pathogenic | ★★★★2 stars out of 4 criteria provided, multiple submitters, no conflicts |
Genes linked to the same conditions
- AIREautoimmune regulatorShares 1 condition
- CASRcalcium sensing receptorShares 1 condition
- CDC73cell division cycle 73Shares 1 condition
- CDKN1Bcyclin dependent kinase inhibitor 1BShares 1 condition
- GCM2GCM transcription factor 2Shares 1 condition
- GNA11G protein subunit alpha 11Shares 1 condition
- GNASGNAS complex locusShares 1 condition
- PTHparathyroid hormoneShares 1 condition
- RETret proto-oncogeneShares 1 condition
- STX16syntaxin 16Shares 1 condition
- TRPV6transient receptor potential cation channel subfamily V member 6Shares 1 condition
Traits linked to MEN1
The Human Phenotype Ontology lists these as features of the rare conditions MEN1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the endocrine system
- Abnormal pituitary gland morphology
- Decreased activity of gonads
- Decreased function of male gonad
- Enlarged parathyroid glands
- Female hypogonadism
- Growth hormone excess
- Hypogonadotropic hypogonadism
- Increased circulating insulin-like growth factor 1 concentration
Show 38 more traits
- Parathyroid adenoma
- Pituitary growth hormone cell adenoma
- Premature pubic hair growth
- Primary hyperparathyroidism
- Adrenocortical abnormality
- Adrenocorticotropic hormone deficiency
- Adrenocorticotropin deficient adrenal insufficiency
- Central adrenal insufficiency
- Decreased circulating ACTH concentration
- Elevated gastrin in the blood
- Increased circulating prolactin concentration
- Low thyroid gland function due to abnormal pituitary gland
- Noncancerous tumor in pituitary gland
- Pituitary prolactin cell adenoma
- Secondary growth hormone deficiency
- Abnormal circulating aldosterone
- Adrenocortical adenoma
- Adrenocortical carcinoma
- Anterior hypopituitarism
- Carcinoid tumor
- Delayed puberty
- Enlarged thyroid gland in neck
- Increased circulating cortisol level
- Neoplasm of the adrenal gland
- Neuroendocrine neoplasm
- Pancreatic endocrine tumor
- Primary hypercortisolism
- Thyroid carcinoma
- Glucagonoma
- Increased serum serotonin
- Parathyroid carcinoma
- Pheochromocytoma
- Pituitary corticotropic cell adenoma
- Pituitary gonadotropic cell adenoma
- Pituitary null cell adenoma
- Pituitary thyrotropic cell adenoma
- Pulmonary carcinoid tumor
- Thyroid adenoma
Abnormality of the nervous system
- Epilepsy
- Transient global amnesia
- Tremor
- Behavioral abnormality
- Disturbances of consciousness
- Fluctuations in consciousness
- Headache
- Increased appetite
Show 19 more traits
- Abducens palsy
- Abnormal rapid eye movement sleep
- Abnormality of mental function
- Abnormality of pain sensation
- Anxiety
- Coma
- Confusion
- Cranial nerve compression
- Cranial nerve paralysis
- Decreased vigilance
- Depression
- Difficulty staying or falling asleep
- Fourth cranial nerve palsy
- Lethargy
- Noncancerous growth of membranes covering brain
- Pins and needles feeling
- Short attention span
- Atypical absence status epilepticus
- Ependymoma
Abnormality of the eye
- Progressive loss of vision
- Abnormality of vision
- Bitemporal hemianopia
- Blindness
- Double vision
- Drooping upper eyelid
- Hemianopia
- Heteronymous hemianopia
Show 3 more traits
Abnormality of the musculoskeletal system
- Advanced bone age
- Calcium deposits in joints
- Generalized osteoporosis
- Osteopenia
- Generalized muscle weakness
- Low solidness and mass of the bones
- Multiple fatty lumps
- Osteoporosis
Show 3 more traits
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). MEN1 gene: menin 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/men1
Dante Labs. MEN1 gene: menin 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/men1
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