MAML2
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. [provided by RefSeq, Jan 2015]
Details
| Type | Protein Coding |
| Official Symbol | MAML2 |
| Official Name | mastermind like transcriptional coactivator 2 [Source:HGNC Symbol;Acc:HGNC:16259] |
| Ensembl ID | ENSG00000184384 |
| Bio databases IDs | |
| Aliases | mastermind like transcriptional coactivator 2 |
| Synonyms | 5930431H10,BC032967,LOC100039223,LOC686373,MAM2,MAM-3,mastermind-like transcriptional coactivator 2,MLL-MAML2 |
| Species | Human, Homo sapiens |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- MamL-1 domain
- transcription regulator
- transcription co-activator
- transcription activation domain
- protein binding
- basic domain
Pathways
Biological processes and signaling networks where the MAML2 gene plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
binds
- EP300
- CREBBP
- CTBP1
- NOTCH1
- RBPJ
- MAML1
- MB
- SYNC
- HES1
- PRNP
disease
- schizophrenia
- non-insulin-dependent diabetes mellitus
- idiopathic scoliosis
- ulcerative colitis
- inflammatory bowel disease
- chronic obstructive pulmonary disease
- sudden cardiac arrest
- osteoarthritis
- acute lymphoblastic leukemia
- hip or knee osteoarthritis
regulated by
- lipopolysaccharide
- cisplatin
- CREB1
- CGA
- lenalidomide
- SYK
- CITED2
- PIWIL4
regulates
- IL6
- NR4A1
- DUSP1
- FOS
- NR4A3
- CXCL2
- THBS1
- reporter gene
- CTH
- HAS2
role in cell
- cell death
- activation in
- colony formation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the MAML2 gene, providing context for its role in the cell.
BIOLOGICAL PROCESS
Functions and activities the gene product is involved in
- Notch signaling pathway
- positive regulation of transcription of Notch receptor target
- positive regulation of transcription from RNA polymerase II promoter
CELLULAR COMPONENT
Where in the cell the gene product is active
- nucleus
- nuclear speck
- nucleoplasm
MOLECULAR FUNCTION
What the gene product does at the molecular level
- protein binding
- transcription coactivator activity