menin (MEN1, SCG2)

Function

• tumor suppressor ?
• may be involved in DNA repair
• phosphorylated upon DNA damage, probably by ATM or ATR
• interacts with FANCD2 & DBF4
• component of MLL-containing complexes (named MLL, ASCOM, MLL2/MLL3 or MLL3/MLL4 complex): at least composed ASH2L, RBBP5, DPY30, WDR5, one or several histone methyltransferases (MLL, MLL2, MLL3 &/or MLL4), & the facultative components MEN1, HCFC1, HCFC2, NCOA6, KDM6A, PAXIP1/PTIP & C16orf53/PA1

Compartment

• nucleus
• concentrated in nuclear body-like structures
• relocates to the nuclear matrix upon gamma irradiation

Alternative splicing

named isoforms=3

Expression

ubiquitous

Pathology

• mutations seen in:
  • familial multiple endocrine neoplasia type 1
  • familial isolated hyperparathyroidism

Pharmacology

• revumenib, an menin inhibitor is a investigational agent for relapsed or refractory KMT2A-rearranged or NPM1-mutant acute leukemia

More general terms

• nuclear protein
• phosphoprotein

Additional terms

• hyperparathyroidism
• multiple endocrine neoplasia type-1 (MEN-1); multiple endocrine adenomatosis; Wermer Syndrome

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=4221
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:4221
• OMIM: https://mirror.omim.org/entry/131100
• OMIM: https://mirror.omim.org/entry/145000
• UniProt: http://www.uniprot.org/uniprot/O00255.html