MAML2 mastermind like transcriptional coactivator 2
Gene ID: 84441, updated on 2-Nov-2024Gene type: protein coding
Also known as: MAM2; MAM3; MAM-3; MLL-MAML2
- See all available tests in GTR for this gene
- Go to complete Gene record for MAML2
- Go to Variation Viewer for MAML2 variants
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. [provided by RefSeq, Jan 2015]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study. GeneReviews: Not available | |
| Genetic variant predicts bevacizumab-induced hypertension in ECOG-5103 and ECOG-2100. GeneReviews: Not available | |
| Genome-wide association study in Han Chinese identifies three novel loci for human height. GeneReviews: Not available | |
| Genome-wide interrogation of germline genetic variation associated with treatment response in childhood acute lymphoblastic leukemia. GeneReviews: Not available | |
| GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease. GeneReviews: Not available | |
| Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. GeneReviews: Not available | |
| Identification of a candidate gene for astigmatism. GeneReviews: Not available |
Genomic context
- Location:
- 11q21
- Sequence:
- Chromosome: 11; NC_000011.10 (95976598..96343195, complement)
- Total number of exons:
- 6
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for MAML2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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