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

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

rs104894259 in MAP4K2;MEN1 gene and Multiple Endocrine Neoplasia Type 1 PMID 14686752 2003 A novel missense mutation of the MEN1 gene in a multiple endocrine neoplasia type 1 patient associated with carcinoid syndrome.

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

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

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

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 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

PMID 24218143 2014 Ectopic Cushing syndrome associated with thymic carcinoid tumor as the first presentation of MEN1 syndrome-report of a family with MEN1 gene mutation.

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

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

PMID 10435055 1999 The different ages of disease presentation and the heterogeneity of symptoms among carriers of the Trp471Stop mutation, which would lead to the synthesis of a truncated non-functional protein, suggest that clinical heterogeneity is a characteristic of MEN1 independent of the type of mutation.

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

PMID 22026581 2012 Novel mutations in MEN1, CDKN1B and AIP genes in patients with multiple endocrine neoplasia type 1 syndrome in Spain.

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

PMID 21340156 2010 Application of genetic testing to define the surgical approach in a sporadic case of multiple endocrine neoplasia type 1.

PMID 17065424 2006 Rapid mutation screening for HRPT2 and MEN1 mutations associated with familial and sporadic primary hyperparathyroidism.

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 15635078 2005 A report of a national mutation testing service for the MEN1 gene: clinical presentations and implications for mutation testing.

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

PMID 12213668 2002 Involvement of the MEN1 gene locus in familial isolated hyperparathyroidism.

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

PMID 25291050 2015 Ectopic adrenocorticotropic hormone and corticotropin-releasing hormone co-secreting tumors in children and adolescents causing cushing syndrome: a diagnostic dilemma and how to solve it.

PMID 23321498 2013 Genetic analysis in young patients with sporadic pituitary macroadenomas: besides AIP don't forget MEN1 genetic analysis.

PMID 24915123 2014 Natural course and survival of neuroendocrine tumors of thymus and lung in MEN1 patients.

PMID 12791038 2003 In this study, we identified three novel MEN1 germline mutations (969C >A, 973G >C and 1213C >T) and one previously reported mutation (200-201insAGCCC).

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

PMID 16563611 2006 Characteristics of the Danish families 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.

rs104894261 in MAP4K2;MEN1 gene and Neoplastic Syndromes, Hereditary 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 9103196 1997 Positional cloning of the gene for multiple endocrine neoplasia-type 1.

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

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

PMID 16840830 2006 Two novel mutations in the MEN1 gene in subjects with multiple endocrine neoplasia-1.

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

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

PMID 16484744 2006 Multiple endocrine neoplasia type I and Cushing's syndrome due to an aggressive ACTH producing thymic carcinoid.

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

PMID 2134015 1990 Synthetic peptides: prospects for vaccine development.

PMID 20367983 2010 Mutation analysis in a Chinese family with multiple endocrine neoplasia type 1.

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

PMID 15635078 2005 A report of a national mutation testing service for the MEN1 gene: clinical presentations and implications for mutation testing.

PMID 19041010 2008 Identification of multiple endocrine neoplasia type 1 in patients with apparent sporadic primary hyperparathyroidism.

PMID 21340156 2010 Application of genetic testing to define the surgical approach in a sporadic case of multiple endocrine neoplasia type 1.

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

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 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 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 12807514 2003 Multiple endocrine neoplasia type 1 (MEN1): genetic and clinical analysis in the Southern Chinese.

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

rs972128957 in MAP4K2;MEN1 gene and PITUITARY ADENOMA 1, MULTIPLE TYPES PMID 30630164 2019 Three Novel MEN1 Variants in AIP-Negative Familial Isolated Pituitary Adenoma Patients.