Fktn Gene Summary [Mouse]
Enables phosphotransferase activity, for other substituted phosphate groups. Acts upstream of or within several processes, including brain development; glycoprotein metabolic process; and skeletal muscle fiber differentiation. Located in Golgi membrane. Is expressed in several structures, including central nervous system; future brain; genitourinary system; sensory organ; and spinal ganglion. Used to study Fukuyama congenital muscular dystrophy and muscular dystrophy-dystroglycanopathy type B1. Human ortholog(s) of this gene implicated in dilated cardiomyopathy (multiple) and muscular dystrophy (multiple). Orthologous to human FKTN (fukutin). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Fktn |
| Official Name | fukutin [Source:MGI Symbol;Acc:MGI:2179507] |
| Ensembl ID | ENSMUSG00000028414 |
| Bio databases IDs | |
| Aliases | fukutin |
| Synonyms | CMD1X, D830030O17Rik, FCMD, FUKUTIN, LGMD2M, LGMDR13, LOC105376200, MDDGA4, MDDGB4, MDDGC4 |
| 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 Fktn often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- substituted phosphate group transferase
- enzyme
- protein binding
- Fukutin N-terminal
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Walker-Warburg syndrome
- limb-girdle muscular dystrophy type 2M
- Fukuyama congenital muscular dystrophy
- dilated cardiomyopathy 1x
- muscular dystrophy-dystroglycanopathy (congenital without mental retardation) type B4
- familial primary dilated cardiomyopathy
- spondylarthritis
- myocardial infarction
- type 2 lissencephaly
- dystroglycanopathy
regulated by
- MEK
- curcumin
- KRAS
- AKT
role in cell
- proliferation
- differentiation
- formation
- organization
- glycosylation in
- modification in
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
- Extracellular Space
- Nucleus
- Golgi Apparatus
- Endoplasmic Reticulum
- Golgi membrane
- cis Golgi networks
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Fktn gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- muscle organ development
- protein O-linked glycosylation
- negative regulation of cell proliferation
- protein glycosylation
- nervous system development
- negative regulation of JNK cascade
- regulation of protein glycosylation
- protein O-linked mannosylation
Cellular Component
Where in the cell the gene product is active
- nucleus
- extracellular space
- cis-Golgi network
- endoplasmic reticulum
- Golgi apparatus
- Golgi membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- phosphotransferase activity, for other substituted phosphate groups