Gene: MAML2

Alternate names for this Gene: MAM-3|MAM2|MAM3|MLL-MAML2

Gene Summary: The protein encoded by this gene is a member of the Mastermind-like family of proteins. All family members are proline and glutamine-rich, and contain a conserved basic domain that binds the ankyrin repeat domain of the intracellular domain of the Notch receptors (ICN1-4) in their N-terminus, and a transcriptional activation domain in their C-terminus. This protein binds to an extended groove that is formed by the interaction of CBF1, Suppressor of Hairless, LAG-1 (CSL) with ICN, and positively regulates Notch signaling. High levels of expression of this gene have been observed in several B cell-derived lymphomas. Translocations resulting in fusion proteins with both CRTC1 and CRTC3 have been implicated in the development of mucoepidermoid carcinomas, while a translocation event with CXCR4 has been linked with chronic lymphocytic leukemia (CLL). Copy number variation in the polyglutamine tract has been observed.

Gene is located in Chromosome: 11

Location in Chromosome : 11q21

Description of this Gene: mastermind like transcriptional coactivator 2

Type of Gene: protein-coding

rs41518446 in MAML2 gene and Adolescent idiopathic scoliosis PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs11021504 in MAML2 gene and Body Height PMID 23456168 2013 Genome-wide association study in Han Chinese identifies three novel loci for human height.

rs7107785 in MAML2 gene and Central Nervous System Neoplasms PMID 28346443 2017 Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors.

rs7107785 in MAML2 gene and Glioma PMID 28346443 2017 Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors.

rs11021504 in MAML2 gene and Height PMID 23456168 2013 Genome-wide association study in Han Chinese identifies three novel loci for human height.

rs483905 in MAML2 gene and Inflammatory Bowel Diseases PMID 26192919 2015 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.

rs607816 in MAML2 gene and Intelligence PMID 31374203 2019 Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways.

rs41518446 in MAML2 gene and SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs607816 in MAML2 gene and Schizophrenia PMID 31374203 2019 Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways.

rs10765792 in MAML2 gene and Sudden Cardiac Arrest PMID 21658281 2011 GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.

rs10765792 in MAML2 gene and Sudden Cardiac Death PMID 21658281 2011 GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.

rs483905 in MAML2 gene and Ulcerative Colitis PMID 23128233 2012 Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.

PMID 26192919 2015 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.

PMID 28067908 2017 Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease.

rs12799722 in MAML2 gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.