Hspg2 Gene Summary [Mouse]
Enables protease binding activity. Involved in receptor-mediated endocytosis. Acts upstream of or within several processes, including cardiac muscle tissue development; extracellular matrix organization; and skeletal system development. Located in basement membrane. Is expressed in several structures, including alimentary system; cardiovascular system; early conceptus; genitourinary system; and nervous system. Used to study Schwartz-Jampel syndrome 1; Silverman-Handmaker type dyssegmental dysplasia; dextro-looped transposition of the great arteries; and thanatophoric dysplasia. Human ortholog(s) of this gene implicated in Schwartz-Jampel syndrome 1; Silverman-Handmaker type dyssegmental dysplasia; and osteochondrodysplasia. Orthologous to human HSPG2 (heparan sulfate proteoglycan 2). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Hspg2 |
| Official Name | perlecan (heparan sulfate proteoglycan 2) [Source:MGI Symbol;Acc:MGI:96257] |
| Ensembl ID | ENSMUSG00000028763 |
| Bio databases IDs | |
| Aliases | perlecan (heparan sulfate proteoglycan 2) |
| Synonyms | AABR07073181.1, AI852380, BASEMENT MEMBRANE SPECIFIC HEPARAN SULFATE PROTEOGLYCAN CORE, BASEMENT MEMBRANE SPECIFIC HEPARAN sulphATE PROTEOGLYCAN CORE, ENDOREPELLIN, Heparan Sulfate Proteoglycan 2, Heparan sulphate Proteoglycan 2, HSPG, LOC100047061, LOC313641, Pcn, Per, Perlecan, perlecan (heparan sulfate proteoglycan 2), perlecan (heparan sulphate proteoglycan 2), PLC, PRCAN, SJA, SJS, SJS1 |
| 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 Hspg2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Laminin B (Domain IV)
- perlecan domain
- SEA domain
- enzyme
- V domain
- EGF_CA
- Concanavalin A-like lectin/glucanases superfamily
- Ig superfamily domain
- Laminin-type epidermal growth factor-like domai
- Immunoglobulin like
- LDLa
- laminin G domain
- Immunoglobulin V-set domain
- laminin domain V
- protease binding
- LamG
- immunoglobulin domain
- Human growth factor-like EGF
- Immunoglobulin I-set domain
- protein binding
- low-density lipoprotein receptor binding
- Tumor necrosis factor receptor superfamily (TNFRSF)
- alpha dystroglycan binding domain
- laminin-like globular domain
- integrin binding
- collagen binding
- Laminin EGF domain
Pathways
Biological processes and signaling networks where the Hspg2 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
- atherosclerosis
- Schwartz-Jampel syndrome type 1
- exencephaly
- androgenic alopecia
- bleeding
- dyssegmental dysplasia, Silverman-Handmaker type
- organismal death
- chronic allograft nephropathy
- breast cancer
phenotypes
- abnormal action potential
- abnormal aortic valve morphology
- abnormal ascending aorta and coronary artery attachment
- abnormal axon morphology
- abnormal basement membrane morphology
- abnormal behavior
- abnormal bone marrow cavity morphology
- abnormal bone marrow morphology
- abnormal bone ossification
- abnormal bone structure
- abnormal brain morphology
- abnormal cardiac outflow tract development
- abnormal cardinal vein morphology
- abnormal cartilage development
- abnormal cartilage morphology
- abnormal cell physiology
- abnormal chest morphology
- abnormal chondrocyte morphology
- abnormal conotruncus septation
- abnormal craniofacial morphology
- abnormal cranium morphology
- abnormal endochondral bone ossification
- abnormal endplate potential
- abnormal ethmoid bone morphology
- abnormal femur head morphology
- abnormal femur neck morphology
- abnormal forelimb morphology
- abnormal gait
- abnormal heart and great artery attachment
- abnormal hindlimb morphology
- abnormal humerus morphology
- abnormal inner ear morphology
- abnormal internode morphology
- abnormal intervertebral disk development
- abnormal joint morphology
- abnormal locomotor coordination
- abnormal long bone epiphyseal plate morphology
- abnormal long bone epiphyseal plate proliferative zone
- abnormal long bone epiphysis morphology
- abnormal long bone hypertrophic chondrocyte zone
- abnormal long bone metaphysis morphology
- abnormal long bone morphology
- abnormal middle ear morphology
- abnormal miniature endplate potential
- abnormal muscle electrophysiology
- abnormal muscle morphology
- abnormal myelin sheath morphology
- abnormal myocardium compact layer morphology
- abnormal myocardium layer morphology
- abnormal nervous system morphology
- abnormal neuromuscular synapse morphology
- abnormal node of Ranvier morphology
- abnormal occipital bone morphology
- abnormal osteoclast morphology
- abnormal paranode morphology
- abnormal pelvic girdle bone morphology
- abnormal pericardium morphology
- abnormal pulmonary valve morphology
- abnormal radial glial cell endfoot morphology
- abnormal rib morphology
- abnormal semilunar valve morphology
- abnormal skeletal muscle fiber morphology
- abnormal skeletal muscle fiber type ratio
- abnormal skeleton morphology
- abnormal sphenoid bone morphology
- abnormal spine curvature
- abnormal sternum morphology
- abnormal telencephalon morphology
- abnormal trabecular bone morphology
- abnormal vertebral body morphology
- abnormal vertebral column morphology
- absent conotruncal ridges
- absent frontal bone
- absent neurocranium
- absent parietal bone
- aneurysm
- bowed humerus
- centrally nucleated skeletal muscle fibers
- chondrodystrophy
- cleft palate
- conotruncal ridge hyperplasia
- decreased body length
- decreased body weight
- decreased bone mineralization
- decreased chondrocyte proliferation
- decreased cranium height
- decreased embryo size
- decreased length of long bones
- delayed bone ossification
- delayed eyelid opening
- demyelination
- disorganized long bone epiphyseal plate
- disproportionate dwarf
- domed cranium
- embryonic lethality during organogenesis incomplete penetrance
- enlarged liver sinusoidal spaces
- enlarged vertebral body
- exencephaly
- flat face
- hemopericardium
- hemorrhage
- impaired basement membrane formation
- increased Schwann cell number
- increased compact bone thickness
- increased diameter of humerus
- increased diameter of long bones
- increased osteoclast cell number
- increased variability of skeletal muscle fiber size
- increased width of hypertrophic chondrocyte zone
- intracranial hemorrhage
- irregular heartbeat
- lung hemorrhage
- microphthalmia
- osteoarthritis
- perinatal lethality incomplete penetrance
- premature death
- respiratory failure
- short femur
- short femur neck
- short limbs
- short mandible
- short nasal bone
- short snout
- skeletal muscle hyperplasia
- skin hemorrhage
- transposition of great arteries
- wide cranial sutures
role in cell
- phosphorylation in
- expression in
- apoptosis
- proliferation
- migration
- quantity
- formation
- autophagy in
- activation
- binding
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- membrane fraction
- Golgi lumen
- parenchymal basement membrane
- extrafibrillar region
- extracellular vesicles
- cell-associated matrix
- cell surface
- cell borders
- cell periphery
- Plasma Membrane
- apical cell surfaces
- lysosomal compartment
- microfibrils
- fibrils
- extracellular matrix
- basal lamina
- basement membrane
- glomerular basement membrane
- cartilage matrix
- endothelial basement membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Hspg2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of angiogenesis
- negative regulation of cell proliferation
- negative regulation of cell adhesion
- smoothened signaling pathway
- brain development
- response to xenobiotic stimulus
- receptor-mediated endocytosis
- embryo implantation
- inflammatory response
- response to hypoxia
- angiogenesis
- lipid metabolic process
- cell differentiation
- circulatory system development
- positive regulation of endothelial cell proliferation
- organ regeneration
Cellular Component
Where in the cell the gene product is active
- extracellular space
- basement membrane
- extracellular vesicular exosome
- focal adhesion
- lysosomal lumen
- extracellular region
- Golgi lumen
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- collagen V binding
- protein binding
- low-density lipoprotein particle receptor binding
- calcium ion binding
- extracellular matrix structural constituent conferring compression resistance
- beta-amyloid binding