Menin 1

Alternative Names

  • MEN1
  • MEN1 Gene
  • Menin
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OMIM Number

613733

NCBI Gene ID

4221

Uniprot ID

O00255

Length

7,781 bases

No. of Exons

14

No. of isoforms

3

Protein Name

Menin

Molecular Mass

68023 Da

Amino Acid Count

615

Genomic Location

chr11:64,803,513-64,811,293

Gene Map Locus
11q13.1

Description

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 pathways and processes by altering chromatin structure through the modification of histones. [From RefSeq]

Molecular Genetics

The MEN1 gene spans 9 kb of the genome.  It is located on the long arm of chromosome 11.  MEN1 contains 10 exons and encodes a 610 amino acid nuclear protein called menin.  This protein comsists of 615 amino acids and has a molecular mass of about 68 kDa.  Menin is widely expressed in endocrine and nonendocrine tissues.  This protein works as tumour suppressor.  

More than 565 different mutations have been described. The majority of these mutations are truncation mutations.  Genotype-phenotype correlation has not been established. 

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinical SignificanceCondition(s)HGVS ExpressionsdbSNPClinvar
NM_000244.3:c.789G>AUnited Arab EmiratesNC_000011.10:g.64807561C>TMultiple Endocrine Neoplasia, Type ING_008929.1:g.8734G>A; NM_000244.3:c.789G>A; NP_000235.2:p.Gln263=
NM_001370259.2:c.784-9G>AUnited Arab EmiratesNC_000011.10:g.64807228C>TLikely Pathogenic,PathogenicMultiple Endocrine Neoplasia, Type ING_008929.1:g.9067G>A; NM_001370259.2:c.784-9G>A794728625200981

Other Reports

Saudi Arabia

Raef et al. (2011) described a large Saudi family with MEN1.  Sequencing of the MEN1 gene revealed no mutations.  The authors then used alternative methods, such as multiplex ligation dependent probe amplification and array comparative genomic hybridization, and successfully identified a novel monoallelic deletion of 5 kb genomic DNA involving the promoter and exons 1 and 2 of MEN1 gene.  The loss of heterozygosity analysis showed somatic deletion of chromosome 11 that contained the MEN1 locus.  Moreover, the authors noted a disruption of imprinted CDKN1C/p57KIP2 and IGF-2 gene expression which may have contributed to tumour progression and aggressive phenotype seen in this family.  

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