Smpd3 Gene Summary [Mouse]
Enables identical protein binding activity; neutral sphingomyelin phosphodiesterase activity; and phospholipid binding activity. Involved in sphingomyelin metabolic process. Acts upstream of or within several processes, including bone development; enzyme-linked receptor protein signaling pathway; and sphingolipid metabolic process. Located in Golgi cis cisterna and plasma membrane. Is expressed in several structures, including alimentary system; limb; nervous system; sensory organ; and skeleton. Used to study hypopituitarism; osteogenesis imperfecta; osteogenesis imperfecta type 2; and osteogenesis imperfecta type 3. Orthologous to human SMPD3 (sphingomyelin phosphodiesterase 3). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Smpd3 |
| Official Name | sphingomyelin phosphodiesterase 3, neutral [Source:MGI Symbol;Acc:MGI:1927578] |
| Ensembl ID | ENSMUSG00000031906 |
| Bio databases IDs | |
| Aliases | sphingomyelin phosphodiesterase 3, neutral |
| Synonyms | 4631433G07Rik, AI427456, AW537966, cca1, FLJ22593, fro, Nsm2, NSMASE2, sphingomyelin phosphodiesterase 3, sphingomyelin phosphodiesterase 3, neutral |
| 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 Smpd3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- phospholipid binding
- binding protein
- sphingomyelin phosphodiesterase
- Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily
- Endonuclease/Exonuclease/phosphatase family
- enzyme
- protein binding
- identical protein binding
- phosphoric diester hydrolase
Pathways
Biological processes and signaling networks where the Smpd3 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
- neoplasia
- COVID-19
- schizophrenia
- chronic obstructive pulmonary disease
- ovarian carcinoma
- epithelial ovarian cancer
- dentinogenesis imperfecta
- metastasis
- metabolic syndrome X
- growth failure
phenotypes
- abnormal adenohypophysis morphology
- abnormal alveolar process morphology
- abnormal bone mineralization
- abnormal bone ossification
- abnormal cartilage development
- abnormal clavicle morphology
- abnormal dentin development
- abnormal epiphyseal plate morphology
- abnormal femur morphology
- abnormal fibula morphology
- abnormal humerus morphology
- abnormal ischium morphology
- abnormal limb bone morphology
- abnormal limb morphology
- abnormal lipid level
- abnormal long bone metaphysis morphology
- abnormal long bone morphology
- abnormal olecranon morphology
- abnormal osteoblast morphology
- abnormal ovarian follicle morphology
- abnormal ovary development
- abnormal perichondrium morphology
- abnormal periosteum morphology
- abnormal pituicyte morphology
- abnormal pubis morphology
- abnormal pulmonary alveolus morphology
- abnormal rib morphology
- abnormal scapula morphology
- abnormal spermatogenesis
- abnormal sternum ossification
- abnormal testis development
- abnormal tibia morphology
- bowed humerus
- bowed radius
- bowed tibia
- bowed ulna
- cyanosis
- decreased body height
- decreased body length
- decreased body size
- decreased bone mineral density
- decreased bone trabecula number
- decreased circulating cortisol level
- decreased circulating insulin-like growth factor I level
- decreased corticotroph cell number
- decreased gonadotroph cell number
- decreased length of long bones
- decreased somatotroph cell number
- decreased survivor rate
- decreased thyrotroph cell number
- decreased thyroxine level
- decreased triiodothyronine level
- decreased width of hypertrophic chondrocyte zone
- delayed bone ossification
- delayed sexual maturation
- disproportionate dwarf
- emphysema
- fetal growth retardation
- increased circulating parathyroid hormone level
- increased lung compliance
- increased width of hypertrophic chondrocyte zone
- overexpanded pulmonary alveoli
- postnatal lethality incomplete penetrance
- reduced fertility
- respiratory distress
- rib fractures
- short femur
- short humerus
- short ribs
- short ulna
role in cell
- expression in
- phosphorylation in
- activation
- proliferation
- activation in
- apoptosis
- differentiation
- number
- assembly
- quantity
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
- detergent-insoluble fractions
- membrane fraction
- cell periphery
- Plasma Membrane
- Golgi Apparatus
- intercellular junctions
- Golgi membrane
- Golgi cisternae
- detergent-soluble fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Smpd3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- multicellular organism growth
- regulation of cartilage development
- polysaccharide transport
- peptide hormone secretion
- sphingomyelin metabolic process
- sphingomyelin catabolic process
- extracellular matrix assembly
- positive regulation of mitosis
- hemopoietic progenitor cell differentiation
- chondrocyte development involved in endochondral bone morphogenesis
- regulation of leukocyte migration
- positive regulation of smooth muscle cell proliferation
- dentinogenesis
- lung alveolus development
- BMP signaling pathway
- DNA biosynthetic process
- cellular response to tumor necrosis factor
- cellular response to hydrogen peroxide
- collagen metabolic process
- bone mineralization
- platelet-derived growth factor receptor signaling pathway
- negative regulation of hyaluronan biosynthetic process
- ceramide metabolic process
- cellular response to redox state
- regulation of protein phosphorylation
- cellular response to magnesium ion
- endochondral ossification
- G1 to G0 transition
- negative regulation of protein kinase B signaling cascade
Cellular Component
Where in the cell the gene product is active
- cytoplasm
- Golgi membrane
- extracellular region
- Golgi cis cisterna
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- phosphatidylserine binding
- identical protein binding
- sphingomyelin phosphodiesterase activity
- protein binding
- metal ion binding
- phosphatidic acid binding
- phosphoric diester hydrolase activity