LRP4 Gene Summary [Human]
This gene encodes a member of the low-density lipoprotein receptor-related protein family. The encoded protein may be a regulator of Wnt signaling. Mutations in this gene are associated with Cenani-Lenz syndrome. [provided by RefSeq, May 2010]
Details
| Type | Protein Coding |
| Official Symbol | LRP4 |
| Official Name | LDL receptor related protein 4 [Source:HGNC Symbol;Acc:HGNC:6696] |
| Ensembl ID | ENSG00000134569 |
| Bio databases IDs | |
| Aliases | LDL receptor related protein 4 |
| Synonyms | 6430526J12RIK, CLSS, CMS17, D230026E03, LDL receptor related protein 4, low density lipoprotein receptor-related protein 4, LRP10, mdig, MEGF7, SOST2 |
| Species | Human, Homo sapiens |
| 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 human LRP4 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- extracellular domain
- Complement Clr-like EGF-like
- ectodomain
- Low-density lipoprotein receptor repeat class B
- protein binding
- NHL repeat unit of beta-propeller proteins
- EGF_CA
- receptor tyrosine kinase binding
- ligand-binding domain
- transmembrane domain
- extracellular beta-propeller structured domain
- LDLa
- protein homodimerization
- cytosolic tail domain
- Low-density lipoprotein-receptor YWTD domain
- Coagulation Factor Xa inhibitory site
- coreceptor
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- migraines
- hypoplasia
- Huntington disease
- venous thromboembolism
- congenital myasthenic syndrome type 17
- Alzheimer disease
- schizophrenia
- major depression
- sclerosteosis type 2
- depressive disorder
role in cell
- formation
- formation in
- expression in
- abnormal morphology
- number
- loss in
- phosphorylation in
- quantity
- differentiation
- organization
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
- cell surface
- cellular membrane
- Plasma Membrane
- synaptic membrane
- neuromuscular junctions
- synapse
- membrane rafts
- perikaryon
- dendrites
- postsynaptic density
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human LRP4 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of Rac protein signal transduction
- synapse organization
- limb development
- odontogenesis of dentin-containing tooth
- enzyme linked receptor protein signaling pathway
- generation of neurons
- endocytosis
- proximal/distal pattern formation
- dorsal/ventral pattern formation
- embryonic digit morphogenesis
- dendrite morphogenesis
- negative regulation of canonical Wnt receptor signaling pathway
- skeletal muscle acetylcholine-gated channel clustering
- negative regulation of axonogenesis
- synaptic growth at neuromuscular junction
- hair follicle development
- postsynaptic membrane assembly
- kidney development
- presynaptic membrane assembly
- Wnt receptor signaling pathway
- negative regulation of ossification
- positive regulation of peptidyl-tyrosine phosphorylation
Cellular Component
Where in the cell the gene product is active
- postsynaptic density
- dendrite
- neuromuscular junction
- neuronal cell body
- synaptic membrane
- plasma membrane
- cell surface
Molecular Function
What the gene product does at the molecular level
- apolipoprotein binding
- coreceptor activity
- scaffold protein binding
- protein homodimerization activity
- protein binding
- calcium ion binding
- receptor tyrosine kinase binding