Gphn Gene Summary [Mouse]
Enables molybdopterin molybdotransferase activity. Involved in molybdopterin cofactor biosynthetic process and neurotransmitter receptor localization to postsynaptic specialization membrane. Acts upstream of or within Mo-molybdopterin cofactor biosynthetic process and synapse organization. Located in several cellular components, including inhibitory synapse; postsynaptic density; and synaptic membrane. Is active in GABA-ergic synapse and postsynaptic specialization, intracellular component. Is expressed in several structures, including central nervous system and retina. Human ortholog(s) of this gene implicated in inherited metabolic disorder and molybdenum cofactor deficiency type C. Orthologous to human GPHN (gephyrin). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Gphn |
| Official Name | gephyrin [Source:MGI Symbol;Acc:MGI:109602] |
| Ensembl ID | ENSMUSG00000047454 |
| Bio databases IDs | |
| Aliases | gephyrin |
| Synonyms | 5730552E08Rik, C230040D23, GEPH, gephyrin, GPH, GPHRYN, HKPX1, MOCODC |
| Species | Mouse, Mus musculus |
| 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 mouse Gphn often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Dynein light chain binding domain
- molybdopterin adenylyltransferase
- MoeA N-terminal region (domain I and II)
- MoeA C-terminal region (domain IV)
- molybdenum cofactor synthesis domain
- protein binding activity, bridging
- linker domain
- enzyme
- protein binding
- receptor binding
- identical protein binding
- molybdopterin molybdotransferase
- Probable molybdopterin binding domain
- tubulin binding domain
- gephyrin E domain
- MogA homology domain
- binding protein
- cytoskeletal protein binding
- nitrate reductase
- tubulin binding
- MoeA homology domain
- MoCF_BD
Pathways
Biological processes and signaling networks where the Gphn 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
- COVID-19
- complementation group C molybdenum cofactor deficiency
- major depression
- idiopathic scoliosis
- morbid obesity
- suicide attempt
- autosomal recessive hyperekplexia type 1
- apnea
role in cell
- binding in
- number
- density
- abnormal morphology
- outgrowth
- degeneration
- diffusion in
- establishment
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
- plasma membrane fraction
- GABAergic postsynaptic terminal
- GABAergic synapse
- organelle
- Cytoplasm
- cell surface
- intracellular space
- postsynaptic region
- cellular membrane
- cytoplasmic aggregates
- cytosol
- cytoplasmic face of plasma membrane
- presynaptic membrane
- postsynaptic membrane
- synaptic membrane
- dendritic spines
- synaptic vesicles
- axon initial segments
- synaptosomes
- synapse
- perikaryon
- dendrites
- postsynaptic density
- presynaptic terminals
- postsynaptic terminals
- inhibitory synapse
- dendritic shafts
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Gphn gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- establishment of synaptic specificity at neuromuscular junction
- gamma-aminobutyric acid receptor clustering
- glycine receptor clustering
- response to metal ion
- Mo-molybdopterin cofactor biosynthetic process
- molybdopterin cofactor biosynthetic process
Cellular Component
Where in the cell the gene product is active
- postsynaptic density
- dendrite
- cytoskeleton
- cytoplasm
- postsynaptic membrane
- cytosol
- synaptic membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- ATP binding
- identical protein binding
- protein binding
- metal ion binding
- nitrate reductase activity
- molybdopterin cofactor binding