MEN1
  • 3
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
MEN1 (HGNC:7010) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
menin 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
No aliases found
%HI
9.63(Read more about the DECIPHER Haploinsufficiency Index)
pLI
1(Read more about gnomAD pLI score)
LOEUF
0.21(Read more about gnomAD LOEUF score)
Cytoband
11q13
Genomic Coordinates
GRCh37/hg19: chr11:64570986-64578766 NCBI Ensembl UCSC
GRCh38/hg38: chr11:64803516-64811294 NCBI Ensembl UCSC
MANE Select Transcript
NM_001370259.2 ENST00000450708.7 (Read more about MANE Select)
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 expression. Plays a role in TGFB1-mediated inhibition of cell-proliferation, possibly regulating SMAD3 transcriptional activity. Represses JUND-mediated transcriptional activation on AP1 sites, as well as that mediated by NFKB subunit RELA. Positively regulates ... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-1600
ClinGen Curation ID:
CCID:007453
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Sufficient Evidence for Haploinsufficiency (3)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
01/12/2022

Haploinsufficiency (HI) Score Details

HI Score:
3
HI Evidence Strength:
Sufficient Evidence for Haploinsufficiency (Disclaimer)
HI Disease:
  • multiple endocrine neoplasia type 1 Monarch
HI Evidence:
  • PUBMED: 32780883
    Kooblall KG, 2021. Reported a 5'UTR deletion in a MEN1 Family. The heterozygous 596bp deletion is between nucleotides -1087 and -492 upstream of the translation start site, located within the MEN1 5' untranslated region (UTR), and includes the core promoter and multiple cis-regulatory regions. The 596bp deletion resulted in significant reductions of 84% (p < 0.05) and 88% (p < 0.05) in MEN1 mRNA and menin protein, respectively, compared to unaffected individuals. Multiple types of tumors in family members having the deletion were identified: pituitary tumors, parathyroid tumors, lipoma; and angiofibroma.
  • PUBMED: 31044390
    Kövesdi A, 2019. European study identified 27 MEN1 variants from a cohort of 189 consecutively enrolled probands and relatives. 22 variants were LOF (nonsense, splicing site, frameshift or intra-genic deletion) and 5 were missense variants (supplementary table).
  • PUBMED: 32430905
    Mariathasan S., 2020 Described 2 patients having a frameshift variant without family history.
HI Evidence Comments:
MEN1 sequence level variants (nonsense, frameshift, splice site, and exonic deletions) as well as non-focal MEN1 whole gene deletions are associated with the development of Multiple Endocrine Neoplasia type 1 (MEN1) syndrome (PMID: 9510467, 15105049, and 21763627 and Genereviews). MEN1 syndrome is characterized by an increased susceptibility to develop endocrine tumors (i.e., parathryoid, pituitary, and well-differentiated endocrine tumors of the gastro-entero-pancreatic [GEP] tract), as well as non-endocrine tumors (e.g. facial angiofibromas, collagenomas, lipomas, meningiomas, ependymomas, and leiomyomas). The penetrance for the development of clinical features associated with MEN1 mutations is 50% by age 20 and 95% by age 40.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
At this time there is no evidence to suggest triplosensitivity.

Genomic View

Select assembly: (NC_000011.9) (NC_000011.10)