Mtmr2 Gene Summary [Mouse]

Enables identical protein binding activity; phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity; and phosphatidylinositol-3-phosphate phosphatase activity. Acts upstream of or within negative regulation of myelination; nervous system development; and phosphatidylinositol dephosphorylation. Located in vacuolar membrane. Is expressed in several structures, including alimentary system; central nervous system; eye; genitourinary system; and immune system. Used to study Charcot-Marie-Tooth disease type 4B1. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease type 4B1. Orthologous to human MTMR2 (myotubularin related protein 2). [provided by Alliance of Genome Resources, Jul 2025]

Details

Type
Protein Coding
Official Symbol
Mtmr2
Official Name
myotubularin related protein 2 [Source:MGI Symbol;Acc:MGI:1924366]
Ensembl ID
ENSMUSG00000031918
Bio databases IDs NCBI: 77116 Ensembl: ENSMUSG00000031918
Aliases myotubularin related protein 2
Synonyms 6030445P13Rik, CMT4B, CMT4B1, Mtmr2 predicted, myotubularin related protein 2
Species
Mouse, Mus musculus
OrthologiesHumanRat

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 mouse Mtmr2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • phosphatidylinositol-3-phosphatase
  • phosphatase
  • Myotubularin-like phosphatase domain
  • coiled-coil domain
  • PTP_DSP_cys
  • protein binding
  • Pleckstrin homology-like domain
  • phosphatase domain
  • PDZ binding motif
  • identical protein binding

Pathways

Biological processes and signaling networks where the Mtmr2 gene in mouse 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
  • hereditary disorder
  • Charcot-Marie-Tooth disease type 4
  • Charcot-Marie-Tooth disease type 4b1
  • Alzheimer disease
  • neuropathy
  • demyelinating hereditary motor and sensory neuropathy
  • tremor
  • gait disturbance
  • azoospermia
  • chronic lymphocytic leukemia
regulates
  • EGFR
  • phosphatidylinositol
  • LAMP1
  • phosphatidylinositol-3-phosphate
  • SBF1
  • MTMR2
  • phosphoinositide
  • phosphatidylinositol triphosphate
  • GRIA2
  • SBF2
role in cell
  • quantity
  • maintenance
  • assembly
  • development
  • function
  • density
  • myelination
  • accumulation in
  • function in
  • degeneration

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • early endosomal fractions
  • extrasynaptic compartment
  • intracellular membrane-bounded organelle
  • perinuclear region
  • Nucleus
  • vacuole
  • cytosol
  • synaptic membrane
  • dendritic spines
  • synaptic vesicles
  • synaptosomes
  • axons
  • dendrites
  • postsynaptic density

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the mouse Mtmr2 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • negative regulation of endocytosis
  • negative regulation of receptor internalization
  • protein dephosphorylation
  • neuron development
  • phosphatidylinositol biosynthetic process
  • negative regulation of excitatory postsynaptic membrane potential
  • dendritic spine maintenance
  • regulation of phosphatidylinositol dephosphorylation
  • phosphatidylinositol dephosphorylation
  • positive regulation of early endosome to late endosome transport
  • myelin assembly
  • negative regulation of receptor catabolic process
  • negative regulation of myelination

Cellular Component

Where in the cell the gene product is active
  • postsynaptic density
  • synaptic vesicle
  • synaptic membrane
  • vacuolar membrane
  • early endosome membrane
  • nucleus
  • dendrite
  • extracellular vesicular exosome
  • perinuclear region of cytoplasm
  • cytoplasm
  • intracellular membrane-bounded organelle
  • dendritic spine
  • membrane
  • cytosol
  • axon

Molecular Function

What the gene product does at the molecular level
  • identical protein binding
  • phosphatidylinositol-3-phosphatase activity
  • protein binding
  • phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity
  • protein tyrosine/serine/threonine phosphatase activity

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.