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MEN1 (multiple endocrine neoplasia I)

Written1999-05Alain Calender
Service de genetique moleculaire et medicale, hopital Edouard-Herriot, batiment B7, 5, place d'Arsonval, 69437 Lyon 03, France

(Note : for Links provided by Atlas : click)

Identity

HGNC (Hugo) MEN1
LocusID (NCBI) 4221
Atlas_Id 148
Location 11q13.1
Location_base_pair Starts at 64570986 and ends at 64578188 bp from pter ( according to hg19-Feb_2009)  [Mapping MEN1.png]
Fusion genes
(updated 2016)
MEN1 (11q13.1) / ATP5G2 (12q13.13)MEN1 (11q13.1) / RNF44 (5q35.2)NBEAL1 (2q33.2) / MEN1 (11q13.1)
Note Mutiple Endocrine neoplasia type 1: MEN1 (or Wermer syndrome) is an inherited predisposition to parathyroid, endocrine pancreas, pituitary, adrenal and neuroendocrine tumors and segregates as an autosomal dominant disease with high penetrance

DNA/RNA

 
  structure of the MEN1 gene (The European Consortium on MEN1, 1997)
Description the MEN1 gene spans 9 Kb of the genome and is characterized by 10 exons; exon 1 and the 3' 832 bp of exon 10 are untranslated. The figure shows the general structure of the gene and some of germline mutations in patients affected by inherited MEN1 disease
Transcription a major 2,8 Kb transcript is detected in all tissues tested; a large 4,0 Kb mRNA has been characterized in the pancreas and in the thymus but the 5' structure of the MEN1 gene and the promoter region remain to date unknown; the 2,8 Kb major mRNA could be initiated inside exon 1

Protein

Description the MEN1 protein, menin, contains 610 amino-acids (67 Kda); contains two nuclear localization signals (NLS-1 and NLS-2) at the C-terminal end of the protein (exon 10), between amino-acids 479-497 for NLS-1 and 588-608 for NLS-2; this has been shown in vitro by deletion mutants construction with GFP-coexpressing vectors
Expression menin is widely expressed and mainly in testis and central nervous system; murine equivalent to MEN1 has been cloned and most of the expression data have been confirmed in murine tissues, either in adults and during embryogenesis by RNA in situ experiments
Localisation primarily localized in the nucleus and could translate in the cytoplasm during specific steps of the cell cycle
Function the MEN1 gene is a growth-suppressor gene, as shown by allelic deletion (LOH) in tumoral DNA from MEN1 patients; menin has been showed to interact with the AP1 transcrition factor through his JunD component; this interaction involves mainly the first 40 amino-acids at the N-terminal end of menin and some specifics amino-acids in the central domain of the protein; Menin interacts specifically with JunD but with none of the other AP1 proteins, such as JunB, c-Jun, c-Fos and Fra1/2; among 11 missense mutations described in MEN1 patients, the authors reported that four of them decreased or abolished binding to JunD suggesting a separate domain between amino-acids residues 139 and 142 could have a critical role in menin-JunD interaction; using mammalian two-hybrid assays, menin has been shown to repress JunD-mediated transcriptionnal activation but most of menin mutatnts with impaired JunD-binding properties lossed this inhibitory activity; strikingly, overexpression of normal or mutant menin in similar experimental assays led to the absence of repressional activity suggesting that unknown factors could be involved in the menin-JunD interaction; new partners binding menin will be probably characterized in a near future and help us to understand the MEN1-related pathways
Homology no homology has been found to date either by comparison of primary sequence and secondary/tertiary structure of this protein with all known proteins involved in cellular physiology

Mutations

Germinal germline mutations in the MEN1 gene cause familial and sporadic multiple endocrine neoplasia type 1 (MEN1) and the majority of mutations described predict premature protein truncation either by nonsenses and frameshifts in coding sequences; missense mutations have been identified in ˜ 30% of cases and when characterized in sporadic cases, most of them need analysis of a large (> 50) number of control individuals in order to exclude frequent polymorphisms; interestingly, all truncating mutations affect one or both NLS's and no missense mutations were observed inside NLS-1 and NLS-2; mutations are spread over the gene and most of them occur once in a single family; some mutations were observed in more than one family and when a common ancestor was excluded by haplotyping, these recurrent mutations might be accounted for 'hot-spots' in the MEN1 sequence; most recurrent mutations are nonsenses and frameshifts in exons 2 and 10; for example, single base deletion occurs frequently at nucleotide 1650 in exon 10 and has been related to the presence of an highly repetitive motif (CCCCCCCG) in this region inducing replication errors by slipped-strand mispairing; between 10 and 15% of sporadic MEN1 could be explained by de novo mutations, but this must be confirmed by an exhautive analysis of affected individuals and both parents

Implicated in

Note
Entity Multiple Endocrine Neoplasia type 1 or Wermer Syndrome
Disease an inherited autosomal dominant predisposition to endocrine tumors, including parathyroids, endocrine pancreas, pituitary, adrenal glands, and the diffuse neuroendocrine tissues deriving from foregut; non-endocrine tumors have been observed in some MEN1 patients, including ependymoma, meningioma, cutaneous angiofibroma and lipoma, melanoma and rare visceral lesions such as rhabdomyosarcoma and leiomyoma; MEN1 is highly penetrant and more than 90% of gene-carriers will present biological and/or clinical signs of the disease affter the fifth decade; around 5-10% of patients have an agressive disease before age 20 no genotype-phenotype correlation were found to date in MEN1; nevertheless, most families with agressive NET have truncating mutations either in exons 2, 3, 9 or 10 but no studies have been able to find statistical evidence of this putative correlation; recent investigations suggested that some MEN1 families could express only primary hyperparathyroidism, so called familial primary hyperparathyroidism (FIHPT), an allelic variant of MEN1; MEN1 related FIHPT appears as a benign disease but hyperplasia and/or adenoma occur in all parathyroid glands; recent data suggest that this variant could be associated to missense mutations in exons 4 to 7 of the MEN1 sequence; nevertheless, such correlations remain uncertain an do not have clinical implications in medical practice; the identification of germline missense mutations in exons 4 to 7 must lead to an extensive biological and clinical screening of patients in order to exclude the occurrence of pancreatic and pituitary disease, as recently shown in a typical MEN1 family carrying a Leu264Pro in exon 5; approximately 10-15% of MEN1 families do not show any mutation in the known part of MEN1 sequence; clinical profile in these families do not differ from that of families with identified mutations and it is therefore possible that MEN1 mutations occur outside the coding sequence; deletion of part or full MEN1 sequence has been also suggested as a rare mechanism of germline mutation
Prognosis it is mainly related to metabolic and organic complications of hormonal hypersecretion by tumoral cells (Zollinger-Ellison syndrome induced by gastrinoma, hyperinsulinism, hyperparathyroidism, hyeperaldoseronism, Cushing syndrome, hyperprolactinemia, acromegaly; more than 30-50% of digestive neuroendocrine tumors and those localized in thymus and bronchi have a metastatic potential
  

Bibliography

Genetic aspects of adenomatosis of endocrine glands.
WERMER P
The American journal of medicine. 1954 ; 16 (3) : 363-371.
PMID 13138607
 
Multiple endocrine neoplasia type 1 gene maps to chromosome 11 and is lost in insulinoma.
Larsson C, Skogseid B, Oberg K, Nakamura Y, Nordenskjö M
Nature. 1988 ; 332 (6159) : 85-87.
PMID 2894610
 
Localization of the MEN1 gene to a small region within chromosome 11q13 by deletion mapping in tumors.
Byström C, Larsson C, Blomberg C, Sandelin K, Falkmer U, Skogseid B, Oberg K, Werner S, Nordenskjöld M
Proceedings of the National Academy of Sciences of the United States of America. 1990 ; 87 (5) : 1968-1972.
PMID 1968641
 
Localization of the MEN1 gene to a small region within chromosome 11q13 by deletion mapping in tumors.
Byström C, Larsson C, Blomberg C, Sandelin K, Falkmer U, Skogseid B, Oberg K, Werner S, Nordenskjöld M
Proceedings of the National Academy of Sciences of the United States of America. 1990 ; 87 (5) : 1968-1972.
PMID 1968641
 
Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states.
Agarwal SK, Kester MB, Debelenko LV, Heppner C, Emmert-Buck MR, Skarulis MC, Doppman JL, Kim YS, Lubensky IA, Zhuang Z, Green JS, Guru SC, Manickam P, Olufemi SE, Liotta LA, Chandrasekharappa SC, Collins FS, Spiegel AM, Burns AL, Marx SJ
Human molecular genetics. 1997 ; 6 (7) : 1169-1175.
PMID 9215689
 
Positional cloning of the gene for multiple endocrine neoplasia-type 1.
Chandrasekharappa SC, Guru SC, Manickam P, Olufemi SE, Collins FS, Emmert-Buck MR, Debelenko LV, Zhuang Z, Lubensky IA, Liotta LA, Crabtree JS, Wang Y, Roe BA, Weisemann J, Boguski MS, Agarwal SK, Kester MB, Kim YS, Heppner C, Dong Q, Spiegel AM, Burns AL, Marx SJ
Science (New York, N.Y.). 1997 ; 276 (5311) : 404-407.
PMID 9103196
 
Menin mutations in patients with multiple endocrine neoplasia type 1.
Mayr B, Apenberg S, Rothämel T, von zur Mühlen A, Brabant G
European journal of endocrinology / European Federation of Endocrine Societies. 1997 ; 137 (6) : 684-687.
PMID 9437237
 
Germline mutations of the MEN1 gene in Japanese kindred with multiple endocrine neoplasia type 1.
Shimizu S, Tsukada T, Futami H, Ui K, Kameya T, Kawanaka M, Uchiyama S, Aoki A, Yasuda H, Kawano S, Ito Y, Kanbe M, Obara T, Yamaguchi K
Japanese journal of cancer research : Gann. 1997 ; 88 (11) : 1029-1032.
PMID 9439676
 
Identification of the multiple endocrine neoplasia type 1 (MEN1) gene. The European Consortium on MEN1.
Lemmens I, Van de Ven WJ, Kas K, Zhang CX, Giraud S, Wautot V, Buisson N, De Witte K, Salandre J, Lenoir G, Pugeat M, Calender A, Parente F, Quincey D, Gaudray P, De Wit MJ, Lips CJ, Höppener JW, Khodaei S, Grant AL, Weber G, Kytölä S, Teh BT, Farnebo F, Thakker RV
Human molecular genetics. 1997 ; 6 (7) : 1177-1183.
PMID 9215690
 
Characterization of mutations in patients with multiple endocrine neoplasia type 1.
Bassett JH, Forbes SA, Pannett AA, Lloyd SE, Christie PT, Wooding C, Harding B, Besser GM, Edwards CR, Monson JP, Sampson J, Wass JA, Wheeler MH, Thakker RV
American journal of human genetics. 1998 ; 62 (2) : 232-244.
PMID 9463336
 
[Clinicogenetic study of MEN1: recent physiopathological data and clinical applications. Study Group of Multiple Endocrine Neoplasia (GENEM)]
Calender A, Giraud S, Porchet N, Gaudray P, Cadiot G, Mignon M
Annales d'endocrinologie. 1998 ; 59 (6) : 444-451.
PMID 10189986
 
Genetic testing in multiple endocrine neoplasia and related syndromes.
Calender A
Forum (Genoa, Italy). 1998 ; 8 (2) : 146-159.
PMID 9666051
 
Novel V184E MEN1 germline mutation in a Japanese kindred with familial hyperparathyroidism.
Fujimori M, Shirahama S, Sakurai A, Hashizume K, Hama Y, Ito K, Shingu K, Kobayashi S, Amano J, Fukushima Y
American journal of medical genetics. 1998 ; 80 (3) : 221-222.
PMID 9843042
 
Germ-line mutation analysis in patients with multiple endocrine neoplasia type 1 and related disorders.
Giraud S, Zhang CX, Serova-Sinilnikova O, Wautot V, Salandre J, Buisson N, Waterlot C, Bauters C, Porchet N, Aubert JP, Emy P, Cadiot G, Delemer B, Chabre O, Niccoli P, Leprat F, Duron F, Emperauger B, Cougard P, Goudet P, Sarfati E, Riou JP, Guichard S, Rodier M, Meyrier A, Caron P, Vantyghem MC, Assayag M, Peix JL, Pugeat M, Rohmer V, Vallotton M, Lenoir G, Gaudray P, Proye C, Conte-Devolx B, Chanson P, Shugart YY, Goldgar D, Murat A, Calender A
American journal of human genetics. 1998 ; 63 (2) : 455-467.
PMID 9683585
 
Menin, the product of the MEN1 gene, is a nuclear protein.
Guru SC, Goldsmith PK, Burns AL, Marx SJ, Spiegel AM, Collins FS, Chandrasekharappa SC
Proceedings of the National Academy of Sciences of the United States of America. 1998 ; 95 (4) : 1630-1634.
PMID 9465067
 
A large germline deletion of the MEN1 gene in a family with multiple endocrine neoplasia type 1.
Kishi M, Tsukada T, Shimizu S, Futami H, Ito Y, Kanbe M, Obara T, Yamaguchi K
Japanese journal of cancer research : Gann. 1998 ; 89 (1) : 1-5.
PMID 9510467
 
Characterization of the mouse Men1 gene and its expression during development.
Stewart C, Parente F, Piehl F, Farnebo F, Quincey D, Silins G, Bergman L, Carle GF, Lemmens I, Grimmond S, Xian CZ, Khodei S, Teh BT, Lagercrantz J, Siggers P, Calender A, Van de Vem V, Kas K, Weber G, Hayward N, Gaudray P, Larsson C
Oncogene. 1998 ; 17 (19) : 2485-2493.
PMID 9824159
 
A family with isolated hyperparathyroidism segregating a missense MEN1 mutation and showing loss of the wild-type alleles in the parathyroid tumors.
Teh BT, Esapa CT, Houlston R, Grandell U, Farnebo F, Nordenskjöld M, Pearce CJ, Carmichael D, Larsson C, Harris PE
American journal of human genetics. 1998 ; 63 (5) : 1544-1549.
PMID 9792884
 
Mutation analysis of the MEN1 gene in multiple endocrine neoplasia type 1, familial acromegaly and familial isolated hyperparathyroidism.
Teh BT, Kytölä S, Farnebo F, Bergman L, Wong FK, Weber G, Hayward N, Larsson C, Skogseid B, Beckers A, Phelan C, Edwards M, Epstein M, Alford F, Hurley D, Grimmond S, Silins G, Walters M, Stewart C, Cardinal J, Khodaei S, Parente F, Tranebjaerg L, Jorde R, Salmela P
The Journal of clinical endocrinology and metabolism. 1998 ; 83 (8) : 2621-2626.
PMID 9709921
 
Nuclear/cytoplasmic localization of the multiple endocrine neoplasia type 1 gene product, menin.
Huang SC, Zhuang Z, Weil RJ, Pack S, Wang C, Krutzsch HC, Pham TA, Lubensky IA
Laboratory investigation; a journal of technical methods and pathology. 1999 ; 79 (3) : 301-310.
PMID 10092066
 
Menin interacts with the AP1 transcription factor JunD and represses JunD-activated transcription.
Agarwal SK, Guru SC, Heppner C, Erdos MR, Collins RM, Park SY, Saggar S, Chandrasekharappa SC, Collins FS, Spiegel AM, Marx SJ, Burns AL
Cell. 1999 ; 96 (1) : 143-152.
PMID 9989505
 
Mutation analysis of the MEN1 gene in Belgian patients with multiple endocrine neoplasia type 1 and related diseases.
Poncin J, Abs R, Velkeniers B, Bonduelle M, Abramowicz M, Legros JJ, Verloes A, Meurisse M, Van Gaal L, Verellen C, Koulischer L, Beckers A
Human mutation. 1999 ; 13 (1) : 54-60.
PMID 9888389
 

Citation

This paper should be referenced as such :
Calender, A
MEN1 (multiple endocrine neoplasia I)
Atlas Genet Cytogenet Oncol Haematol. 1999;3(2):75-77.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/MEN1ID148.html


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 4 ]
  del(11)(q23q23) KMT2A/CBL;t(11;11)(q23;q23) KMT2A/CBL
del(11)(q23q23) KMT2A/ARHGEF12
t(1;11)(p32;q23) KMT2A/EPS15
t(3;11)(q21;q23) KMT2A/EEFSEC

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 6 ]
  Neuro-Endocrine/Endocrine System: Adrenal cortical carcinoma
Neuro-Endocrine/Endocrine System: Carcinoid tumors
Soft tissue: Hibernomas
Soft Tissues: Lipoma / benign lipomatous tumors
Neuro-Endocrine/Endocrine System: Pituitary adenomas
Skin: Melanoma
Soft tissue tumors: an overview

Other Cancer prone implicated (Data extracted from papers in the Atlas) [ 1 ]
  Multiple endocrine neoplasia type 1 (MEN1)

External links

Nomenclature
HGNC (Hugo)MEN1   7010
Cards
AtlasMEN1ID148
Entrez_Gene (NCBI)MEN1  4221  menin 1
AliasesMEAI; SCG2
GeneCards (Weizmann)MEN1
Ensembl hg19 (Hinxton)ENSG00000133895 [Gene_View]  chr11:64570986-64578188 [Contig_View]  MEN1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000133895 [Gene_View]  chr11:64570986-64578188 [Contig_View]  MEN1 [Vega]
ICGC DataPortalENSG00000133895
TCGA cBioPortalMEN1
AceView (NCBI)MEN1
Genatlas (Paris)MEN1
WikiGenes4221
SOURCE (Princeton)MEN1
Genomic and cartography
GoldenPath hg19 (UCSC)MEN1  -     chr11:64570986-64578188 -  11q13   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)MEN1  -     11q13   [Description]    (hg38-Dec_2013)
EnsemblMEN1 - 11q13 [CytoView hg19]  MEN1 - 11q13 [CytoView hg38]
Mapping of homologs : NCBIMEN1 [Mapview hg19]  MEN1 [Mapview hg38]
OMIM131100   613733   
Gene and transcription
Genbank (Entrez)AA877856 AJ297485 AJ297486 AJ297487 AJ297488
RefSeq transcript (Entrez)NM_000244 NM_130799 NM_130800 NM_130801 NM_130802 NM_130803 NM_130804
RefSeq genomic (Entrez)NC_000011 NC_018922 NG_008929 NT_167190 NW_004929380
Consensus coding sequences : CCDS (NCBI)MEN1
Cluster EST : UnigeneHs.423348 [ NCBI ]
CGAP (NCI)Hs.423348
Alternative Splicing GalleryENSG00000133895
Gene ExpressionMEN1 [ NCBI-GEO ]   MEN1 [ EBI - ARRAY_EXPRESS ]   MEN1 [ SEEK ]   MEN1 [ MEM ]
Gene Expression Viewer (FireBrowse)MEN1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4221
GTEX Portal (Tissue expression)MEN1
Protein : pattern, domain, 3D structure
UniProt/SwissProtO00255 (Uniprot)
NextProtO00255  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO00255
Splice isoforms : SwissVarO00255 (Swissvar)
PhosPhoSitePlusO00255
Domains : Interpro (EBI)Menin   
Domain families : Pfam (Sanger)Menin (PF05053)   
Domain families : Pfam (NCBI)pfam05053   
DMDM Disease mutations4221
Blocks (Seattle)MEN1
PDB (SRS)3U84    3U85    3U86    3U88    4GPQ    4GQ3    4GQ4    4GQ6    4I80    4OG3    4OG4    4OG5    4OG6    4OG7    4OG8    4X5Y    4X5Z    5DD9    5DDA    5DDB    5DDD    5DDE    5DDF   
PDB (PDBSum)3U84    3U85    3U86    3U88    4GPQ    4GQ3    4GQ4    4GQ6    4I80    4OG3    4OG4    4OG5    4OG6    4OG7    4OG8    4X5Y    4X5Z    5DD9    5DDA    5DDB    5DDD    5DDE    5DDF   
PDB (IMB)3U84    3U85    3U86    3U88    4GPQ    4GQ3    4GQ4    4GQ6    4I80    4OG3    4OG4    4OG5    4OG6    4OG7    4OG8    4X5Y    4X5Z    5DD9    5DDA    5DDB    5DDD    5DDE    5DDF   
PDB (RSDB)3U84    3U85    3U86    3U88    4GPQ    4GQ3    4GQ4    4GQ6    4I80    4OG3    4OG4    4OG5    4OG6    4OG7    4OG8    4X5Y    4X5Z    5DD9    5DDA    5DDB    5DDD    5DDE    5DDF   
Structural Biology KnowledgeBase3U84    3U85    3U86    3U88    4GPQ    4GQ3    4GQ4    4GQ6    4I80    4OG3    4OG4    4OG5    4OG6    4OG7    4OG8    4X5Y    4X5Z    5DD9    5DDA    5DDB    5DDD    5DDE    5DDF   
SCOP (Structural Classification of Proteins)3U84    3U85    3U86    3U88    4GPQ    4GQ3    4GQ4    4GQ6    4I80    4OG3    4OG4    4OG5    4OG6    4OG7    4OG8    4X5Y    4X5Z    5DD9    5DDA    5DDB    5DDD    5DDE    5DDF   
CATH (Classification of proteins structures)3U84    3U85    3U86    3U88    4GPQ    4GQ3    4GQ4    4GQ6    4I80    4OG3    4OG4    4OG5    4OG6    4OG7    4OG8    4X5Y    4X5Z    5DD9    5DDA    5DDB    5DDD    5DDE    5DDF   
SuperfamilyO00255
Human Protein AtlasENSG00000133895
Peptide AtlasO00255
HPRD00564
IPIIPI00328838   IPI00182106   IPI00651636   IPI01018128   IPI00657785   IPI00657753   IPI00658093   IPI00658169   IPI00657966   
Protein Interaction databases
DIP (DOE-UCLA)O00255
IntAct (EBI)O00255
FunCoupENSG00000133895
BioGRIDMEN1
STRING (EMBL)MEN1
ZODIACMEN1
Ontologies - Pathways
QuickGOO00255
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  MAPK cascade  mitotic cell cycle  four-way junction DNA binding  Y-form DNA binding  nuclear chromosome, telomeric region  chromatin  nuclear chromatin  negative regulation of protein phosphorylation  osteoblast development  type B pancreatic cell differentiation  chromatin binding  double-stranded DNA binding  protein binding  nucleus  nucleoplasm  nucleoplasm  cytoplasm  cytosol  cytosol  DNA repair  transcription, DNA-templated  cellular response to DNA damage stimulus  brain development  negative regulation of cell proliferation  response to UV  response to gamma radiation  negative regulation of cell-substrate adhesion  nuclear matrix  histone-lysine N-methyltransferase activity  positive regulation of transforming growth factor beta receptor signaling pathway  protein binding, bridging  positive regulation of protein binding  cleavage furrow  regulation of activin receptor signaling pathway  histone lysine methylation  histone methyltransferase complex  histone methyltransferase complex  protein complex  negative regulation of sequence-specific DNA binding transcription factor activity  transcription regulatory region DNA binding  negative regulation of osteoblast differentiation  negative regulation of cyclin-dependent protein serine/threonine kinase activity  negative regulation of cell cycle  negative regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  negative regulation of JNK cascade  decidualization  protein N-terminus binding  negative regulation of epithelial cell proliferation  negative regulation of telomerase activity  regulation of type B pancreatic cell proliferation  R-SMAD binding  cellular response to glucose stimulus  cellular response to peptide hormone stimulus  response to transforming growth factor beta  negative regulation of cell cycle G1/S phase transition  beta-catenin-TCF complex assembly  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  MAPK cascade  mitotic cell cycle  four-way junction DNA binding  Y-form DNA binding  nuclear chromosome, telomeric region  chromatin  nuclear chromatin  negative regulation of protein phosphorylation  osteoblast development  type B pancreatic cell differentiation  chromatin binding  double-stranded DNA binding  protein binding  nucleus  nucleoplasm  nucleoplasm  cytoplasm  cytosol  cytosol  DNA repair  transcription, DNA-templated  cellular response to DNA damage stimulus  brain development  negative regulation of cell proliferation  response to UV  response to gamma radiation  negative regulation of cell-substrate adhesion  nuclear matrix  histone-lysine N-methyltransferase activity  positive regulation of transforming growth factor beta receptor signaling pathway  protein binding, bridging  positive regulation of protein binding  cleavage furrow  regulation of activin receptor signaling pathway  histone lysine methylation  histone methyltransferase complex  histone methyltransferase complex  protein complex  negative regulation of sequence-specific DNA binding transcription factor activity  transcription regulatory region DNA binding  negative regulation of osteoblast differentiation  negative regulation of cyclin-dependent protein serine/threonine kinase activity  negative regulation of cell cycle  negative regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  negative regulation of JNK cascade  decidualization  protein N-terminus binding  negative regulation of epithelial cell proliferation  negative regulation of telomerase activity  regulation of type B pancreatic cell proliferation  R-SMAD binding  cellular response to glucose stimulus  cellular response to peptide hormone stimulus  response to transforming growth factor beta  negative regulation of cell cycle G1/S phase transition  beta-catenin-TCF complex assembly  
Pathways : KEGGTranscriptional misregulation in cancer   
REACTOMEO00255 [protein]
REACTOME PathwaysR-HSA-201722 formation of the beta-catenin:TCF transactivating complex [pathway]
REACTOME PathwaysR-HSA-5626467 RHO GTPases activate IQGAPs [pathway]
REACTOME PathwaysR-HSA-3769402 deactivation of the beta-catenin transactivating complex [pathway]
REACTOME PathwaysR-HSA-2173796 SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription [pathway]
NDEx Network
Atlas of Cancer Signalling NetworkMEN1
Wikipedia pathwaysMEN1
Orthology - Evolution
OrthoDB4221
GeneTree (enSembl)ENSG00000133895
Phylogenetic Trees/Animal Genes : TreeFamMEN1
Homologs : HomoloGeneMEN1
Homology/Alignments : Family Browser (UCSC)MEN1
Gene fusions - Rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerMEN1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MEN1
dbVarMEN1
ClinVarMEN1
1000_GenomesMEN1 
Exome Variant ServerMEN1
ExAC (Exome Aggregation Consortium)MEN1 (select the gene name)
Genetic variants : HAPMAP4221
Genomic Variants (DGV)MEN1 [DGVbeta]
Mutations
ICGC Data PortalMEN1 
TCGA Data PortalMEN1 
Broad Tumor PortalMEN1
OASIS PortalMEN1 [ Somatic mutations - Copy number]
Cancer Gene: CensusMEN1 
Somatic Mutations in Cancer : COSMICMEN1 
intOGen PortalMEN1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch MEN1
DgiDB (Drug Gene Interaction Database)MEN1
DoCM (Curated mutations)MEN1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MEN1 (select a term)
intoGenMEN1
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)11:64570986-64578188  ENSG00000133895
CONAN: Copy Number AnalysisMEN1 
Mutations and Diseases : HGMDMEN1
OMIM131100    613733   
MedgenMEN1
Genetic Testing Registry MEN1
NextProtO00255 [Medical]
TSGene4221
GENETestsMEN1
Huge Navigator MEN1 [HugePedia]
snp3D : Map Gene to Disease4221
BioCentury BCIQMEN1
ClinGenMEN1 (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4221
Chemical/Pharm GKB GenePA30746
Clinical trialMEN1
Miscellaneous
canSAR (ICR)MEN1 (select the gene name)
Other databaseUMD-MEN1 (multiple endocrine neoplasia 1). Curator: A. Calender
Other databaseScientific network
Probes
Litterature
PubMed256 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMEN1
EVEXMEN1
GoPubMedMEN1
iHOPMEN1
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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