Gene: MEN1

Alternate names for this Gene: MEAI|SCG2

Gene Summary: 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.

Gene is located in Chromosome: 11

Location in Chromosome : 11q13.1

Description of this Gene: menin 1

Type of Gene: protein-coding

Gene: MAP4K2

Alternate names for this Gene: BL44|GCK|RAB8IP

Gene Summary: The protein encoded by this gene is a member of the serine/threonine protein kinase family. Although this kinase is found in many tissues, its expression in lymphoid follicles is restricted to the cells of germinal centre, where it may participate in B-cell differentiation. This kinase can be activated by TNF-alpha, and has been shown to specifically activate MAP kinases. This kinase is also found to interact with TNF receptor-associated factor 2 (TRAF2), which is involved in the activation of MAP3K1/MEKK1. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 11

Location in Chromosome : 11q13.1

Description of this Gene: mitogen-activated protein kinase kinase kinase kinase 2

Type of Gene: protein-coding

rs104894264 in MEN1;MAP4K2 gene and Multiple Endocrine Neoplasia Type 1 PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

PMID 9683585 1998 Germ-line mutation analysis in patients with multiple endocrine neoplasia type 1 and related disorders.

PMID 9888389 1999 Mutation analysis of the MEN1 gene in Belgian patients with multiple endocrine neoplasia type 1 and related diseases.

PMID 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

PMID 15730416 2005 Novel mutations in the MEN1 gene in subjects with multiple endocrine neoplasia-1.

PMID 9709921 1998 Mutation analysis of the MEN1 gene in multiple endocrine neoplasia type 1, familial acromegaly and familial isolated hyperparathyroidism.

PMID 14686752 2003 A novel missense mutation of the MEN1 gene in a multiple endocrine neoplasia type 1 patient associated with carcinoid syndrome.

PMID 22723327 2012 Clinical practice guidelines for multiple endocrine neoplasia type 1 (MEN1).

PMID 12699448 2003 Multiple endocrine neoplasia type 1 (MEN1) germline mutations in familial isolated primary hyperparathyroidism.

PMID 12652570 2003 Efficient mutation detection in MEN1 gene using a combination of single-strand conformation polymorphism (MDGA) and heteroduplex analysis.

PMID 12417605 2002 A novel six-nucleotide insertion in exon 4 of the MEN1 gene, 878insCTGCAG, in three patients with familial insulinoma and primary hyperparathyroidism.

PMID 9463336 1998 Characterization of mutations in patients with multiple endocrine neoplasia type 1.

PMID 21819486 2011 Correlation of mutant menin stability with clinical expression of multiple endocrine neoplasia type 1 and its incomplete forms.

PMID 15254225 2004 Menin missense mutants associated with multiple endocrine neoplasia type 1 are rapidly degraded via the ubiquitin-proteasome pathway.

PMID 15714081 2005 Clinical testing for multiple endocrine neoplasia type 1 in a DNA diagnostic laboratory.

PMID 9215689 1997 Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states.

PMID 27854360 2017 Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

PMID 17766710 2007 Multiple endocrine neoplasia type 1 in Northern Finland; clinical features and genotype phenotype correlation.

PMID 9989505 1999 Menin interacts with the AP1 transcription factor JunD and represses JunD-activated transcription.

PMID 9820618 1998 MEN1 gene mutations in 12 MEN1 families and their associated tumors.

PMID 25394175 2015 A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.

PMID 15604628 2004 Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.

PMID 14992727 2004 Menin associates with a trithorax family histone methyltransferase complex and with the hoxc8 locus.

PMID 9740255 1998 Somatic mutations of the MEN1 tumor suppressor gene detected in sporadic angiofibromas.

PMID 12112656 2002 Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and the functional domains of the MEN1 protein.

PMID 20065170 2010 American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility.

PMID 10617276 1999 Molecular pathology of multiple endocrine neoplasia type I: two novel germline mutations and updated classification of mutations affecting MEN1 gene.

PMID 10229909 1999 A new mutation of the MEN1 gene in an italian kindred with multiple endocrine neoplasia type 1.

PMID 12050235 2002 Frequent occurrence of an intron 4 mutation in multiple endocrine neoplasia type 1.

PMID 10576763 1999 Germline MEN1 mutations in sixteen Japanese families with multiple endocrine neoplasia type 1 (MEN1).

PMID 10762295 2000 Clinical features of multiple endocrine neoplasia type 1 (MEN1) phenocopy without germline MEN1 gene mutations: analysis of 20 Japanese sporadic cases with MEN1.

PMID 11836268 2002 Pituitary disease in MEN type 1 (MEN1): data from the France-Belgium MEN1 multicenter study.

PMID 11134142 2000 Pituitary macroadenoma in a 5-year-old: an early expression of multiple endocrine neoplasia type 1.

PMID 10993647 2000 Identification of MEN1 gene mutations in families with MEN 1 and related disorders.

PMID 11303512 2001 Founder effect in multiple endocrine neoplasia type 1 (MEN 1) in Finland.

PMID 11739416 2001 Guidelines for diagnosis and therapy of MEN type 1 and type 2.

PMID 11102994 2000 A novel mutation E179K of the MEN1 gene predisposes for multiple endocrine neoplasia-type 1 (MEN1).

PMID 15331604 2004 Direct binding of DNA by tumor suppressor menin.

PMID 17879353 2008 Multiple endocrine neoplasia type 1 (MEN1): analysis of 1336 mutations reported in the first decade following identification of the gene.

PMID 16449969 2006 Tumor suppressor menin: the essential role of nuclear localization signal domains in coordinating gene expression.

PMID 25824098 2015 Prognostic role of the CDNK1B V109G polymorphism in multiple endocrine neoplasia type 1.

PMID 9215690 1997 Identification of the multiple endocrine neoplasia type 1 (MEN1) gene. The European Consortium on MEN1.

PMID 17555499 2007 Novel MEN1 germline mutations in Brazilian families with multiple endocrine neoplasia type 1.

PMID 9329390 1997 A large multiple endocrine neoplasia type 1 family with clinical expression suggestive of anticipation.

PMID 20833329 2010 Multiple endocrine neoplasia type 1 (MEN1).

PMID 15670192 2005 Detection of an MEN1 gene mutation depends on clinical features and supports current referral criteria for diagnostic molecular genetic testing.

PMID 19491073 2010 Parathyroid carcinoma in multiple endocrine neoplasia type 1 with a classic germline mutation.

PMID 10612827 2000 UMD (Universal mutation database): a generic software to build and analyze locus-specific databases.

PMID 21127195 2011 The tumor suppressor protein menin inhibits AKT activation by regulating its cellular localization.

PMID 22090276 2012 Menin missense mutants encoded by the MEN1 gene that are targeted to the proteasome: restoration of expression and activity by CHIP siRNA.

PMID 9103196 1997 Positional cloning of the gene for multiple endocrine neoplasia-type 1.

PMID 17853334 2007 Developing effective screening strategies in multiple endocrine neoplasia type 1 (MEN 1) on the basis of clinical and sequencing data of German patients with MEN 1.

PMID 10090472 1999 Germline mutations in the multiple endocrine neoplasia type 1 gene: evidence for frequent splicing defects.

PMID 17158764 2006 Natural course of small, asymptomatic neuroendocrine pancreatic tumours in multiple endocrine neoplasia type 1: an endoscopic ultrasound imaging study.

PMID 11578300 2001 Prospective controlled trial of a standardized meal stimulation test in the detection of pancreaticoduodenal endocrine tumours in patients with multiple endocrine neoplasia type 1.

PMID 9439676 1997 Germline mutations of the MEN1 gene in Japanese kindred with multiple endocrine neoplasia type 1.

PMID 22470073 2012 Primary hyperparathyroidism in MEN1 patients: a cohort study with longterm follow-up on preferred surgical procedure and the relation with genotype.

PMID 12049533 2002 Genotype-phenotype analysis in multiple endocrine neoplasia type 1.

rs104894264 in MEN1;MAP4K2 gene and Neoplastic Syndromes, Hereditary PMID 15254225 2004 Menin missense mutants associated with multiple endocrine neoplasia type 1 are rapidly degraded via the ubiquitin-proteasome pathway.

PMID 21819486 2011 Correlation of mutant menin stability with clinical expression of multiple endocrine neoplasia type 1 and its incomplete forms.

PMID 26905068 2016 Multiple endocrine neoplasia type 1 syndrome: single centre experience from western India.

PMID 25309785 2014 Genetic and epigenetic analysis in korean patients with multiple endocrine neoplasia type 1.

PMID 29036195 2017 Mutational and large deletion study of genes implicated in hereditary forms of primary hyperparathyroidism and correlation with clinical features.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 17879353 2008 Multiple endocrine neoplasia type 1 (MEN1): analysis of 1336 mutations reported in the first decade following identification of the gene.

PMID 10664520 2000 MEN1 gene mutation analysis in Italian patients with multiple endocrine neoplasia type 1.

PMID 22577108 2012 MEN1-related hyperparathyroidism: response to cinacalcet and its relationship with the calcium-sensing receptor gene variant Arg990Gly.

PMID 9215690 1997 Identification of the multiple endocrine neoplasia type 1 (MEN1) gene. The European Consortium on MEN1.

PMID 15714081 2005 Clinical testing for multiple endocrine neoplasia type 1 in a DNA diagnostic laboratory.

PMID 10598193 1999 Screening for MEN1 mutations in patients with atypical endocrine neoplasia.

PMID 9820618 1998 MEN1 gene mutations in 12 MEN1 families and their associated tumors.

PMID 12112656 2002 Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and the functional domains of the MEN1 protein.

PMID 20142633 2010 Intracranial ependymoma associated with multiple endocrine neoplasia type 1.

PMID 22327296 2012 The same pocket in menin binds both MLL and JUND but has opposite effects on transcription.

PMID 12049533 2002 Genotype-phenotype analysis in multiple endocrine neoplasia type 1.

PMID 17853334 2007 Developing effective screening strategies in multiple endocrine neoplasia type 1 (MEN 1) on the basis of clinical and sequencing data of German patients with MEN 1.

PMID 10660339 1998 Five novel mutations in the familial multiple endocrine neoplasia type 1 (MEN1) gene. Mutations in brief no. 188. Online.

PMID 12050235 2002 Frequent occurrence of an intron 4 mutation in multiple endocrine neoplasia type 1.

PMID 19491073 2010 Parathyroid carcinoma in multiple endocrine neoplasia type 1 with a classic germline mutation.

PMID 22187299 2012 Frequent germ-line mutations of the MEN1, CASR, and HRPT2/CDC73 genes in young patients with clinically non-familial primary hyperparathyroidism.

PMID 16699310 2006 Microadenomatosis of the endocrine pancreas in patients with and without the multiple endocrine neoplasia type 1 syndrome.

PMID 22090276 2012 Menin missense mutants encoded by the MEN1 gene that are targeted to the proteasome: restoration of expression and activity by CHIP siRNA.

PMID 26767918 2016 Multiple endocrine neoplasia type 1 (MEN1): An update of 208 new germline variants reported in the last nine years.

PMID 11578300 2001 Prospective controlled trial of a standardized meal stimulation test in the detection of pancreaticoduodenal endocrine tumours in patients with multiple endocrine neoplasia type 1.

PMID 17158764 2006 Natural course of small, asymptomatic neuroendocrine pancreatic tumours in multiple endocrine neoplasia type 1: an endoscopic ultrasound imaging study.

rs1565635212 in MEN1;MAP4K2 gene and PITUITARY ADENOMA 1, MULTIPLE TYPES PMID 30630164 2019 Three Novel MEN1 Variants in AIP-Negative Familial Isolated Pituitary Adenoma Patients.