MAGI2 Gene Summary [Human]
The protein encoded by this gene interacts with atrophin-1. Atrophin-1 contains a polyglutamine repeat, expansion of which is responsible for dentatorubral and pallidoluysian atrophy. This encoded protein is characterized by two WW domains, a guanylate kinase-like domain, and multiple PDZ domains. It has structural similarity to the membrane-associated guanylate kinase homologue (MAGUK) family. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | MAGI2 |
| Official Name | membrane associated guanylate kinase, WW and PDZ domain containing 2 [Source:HGNC Symbol;Acc:HGNC:18957] |
| Ensembl ID | ENSG00000187391 |
| Bio databases IDs | |
| Aliases | membrane associated guanylate kinase, WW and PDZ domain containing 2, activin receptor-interacting protein 1 |
| Synonyms | Acvri1, ACVRINP1, ACVRIP1, AIP-1, ARIP1, membrane associated guanylate kinase, WW and PDZ domain containing 2, mKIAA0705, NPHS15, S-SCAM |
| Species | Human, Homo sapiens |
| Orthologies |
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 in human MAGI2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Domain present in PSD-95, Dlg, and ZO-1/2
- SMAD binding
- G-protein-coupled receptor binding
- canonical PDZ domain
- enzyme
- protein binding
- receptor binding
- PDZ domain
- WW domain
- kinesin binding
- kinase
- Unstructured region on MAGI
- Domain with 2 conserved Trp (W) residues
- binding protein
- NK
- receptor signaling complex scaffold protein
- WW
- PDZ binding motif
- structural molecule
- cpPDZ_Deg_HtrA-like
- phosphatase binding
Pathways
Biological processes and signaling networks where the MAGI2 gene in human 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.
disease
- non-small cell lung cancer
- side effect
- interstitial nephritis
- diabetic nephropathy
- non-insulin-dependent diabetes mellitus
- acute lymphoblastic leukemia
- Huntington disease
- insomnia
- cannabis dependence
- schizophrenia
role in cell
- apoptosis
- phosphorylation in
- proliferation
- migration
- adhesion
- clustering
- morphology
- abnormal morphology
- development
- loss
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- microsomal fraction
- membrane fraction
- glutaminergic synapse
- Cytoplasm
- perinuclear region
- membrane surface
- cellular membrane
- Nucleus
- centriole
- intercellular junctions
- cytosol
- neurites
- synaptosomes
- synapse
- photoreceptor outer segments
- photoreceptor inner segments
- pedicels
- Schmidt-Lanterman incisures
- late endosomes
- tight junctions
- perikaryon
- axons
- dendrites
- postsynaptic density
- podocyte slit diaphragm
- detergent-soluble fraction
- synaptosomal fractions
- cytosolic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MAGI2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of receptor internalization
- signal transduction
- negative regulation of cell proliferation
- SMAD protein signal transduction
- nervous system development
- receptor clustering
- clathrin-mediated endocytosis
- planar cell polarity pathway involved in axis elongation
- positive regulation of phosphoprotein phosphatase activity
- glomerular visceral epithelial cell development
- negative regulation of activin receptor signaling pathway
- positive regulation of neuron projection development
- negative regulation of cell migration
- negative regulation of protein kinase B signaling cascade
Cellular Component
Where in the cell the gene product is active
- postsynaptic density
- slit diaphragm
- late endosome
- synapse
- plasma membrane
- photoreceptor outer segment
- dendrite
- nucleus
- tight junction
- centrosome
- perinuclear region of cytoplasm
- cell-cell junction
- centriole
- cytoplasm
- macromolecular complex
- photoreceptor inner segment
Molecular Function
What the gene product does at the molecular level
- phosphatase binding
- protein binding
- SMAD binding
- type II activin receptor binding
- beta-1 adrenergic receptor binding
- receptor signaling complex scaffold activity