CD2AP Gene Summary [Human]
This gene encodes a scaffolding molecule that regulates the actin cytoskeleton. The protein directly interacts with filamentous actin and a variety of cell membrane proteins through multiple actin binding sites, SH3 domains, and a proline-rich region containing binding sites for SH3 domains. The cytoplasmic protein localizes to membrane ruffles, lipid rafts, and the leading edges of cells. It is implicated in dynamic actin remodeling and membrane trafficking that occurs during receptor endocytosis and cytokinesis. Haploinsufficiency of this gene is implicated in susceptibility to glomerular disease. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | CD2AP |
| Official Name | CD2 associated protein [Source:HGNC Symbol;Acc:HGNC:14258] |
| Ensembl ID | ENSG00000198087 |
| Bio databases IDs | |
| Aliases | CD2 associated protein |
| Synonyms | CD2-associated protein, CMS, METS1 |
| 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 CD2AP often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- beta-catenin binding
- clathrin binding
- coiled-coil domain
- protein binding
- vascular endothelial growth factor receptor binding
- identical protein binding
- proline rich domain
- SH3-domain binding
- Src Homology 3 domain superfamily
- actin filament binding
- phosphoinositide 3-kinase binding
- binding protein
- structural constituent of cytoskeleton
- actin binding
- cadherin binding
- PXXP motif
Pathways
Biological processes and signaling networks where the CD2AP gene in human 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
- dementia
- Alzheimer disease
- hypoalbuminemia
- susceptibility to focal segmental glomerulosclerosis type 3
- ascites
- focal segmental glomerulosclerosis
- hyperplasia
- growth failure
- decreased vascular flow
- nephrosis
role in cell
- activation in
- expression in
- number
- proliferation
- apoptosis
- differentiation
- survival
- accumulation in
- formation
- binding 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
- detergent-insoluble membrane fraction
- insoluble fractions
- fibrillar center
- ruffle
- cell periphery
- perinuclear region
- podosomes
- actin cytoskeleton
- cell cortex
- Plasma Membrane
- vesicles
- centrosome
- actin filaments
- actin bundles
- intercellular junctions
- cytoplasmic aggregates
- cytosol
- basolateral cell surfaces
- membrane ruffles
- lateral plasma membrane
- trans Golgi network
- perinuclear space
- neuromuscular junctions
- growth cone
- neurites
- late endosomes
- cytoplasmic vesicles
- endocytotic vesicle
- cell membrane leading edge
- axons
- dendrites
- podocyte slit diaphragm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CD2AP gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- male gonad development
- actin filament organization
- protein heterooligomerization
- inflammatory response
- apoptotic process
- regulation of synaptic plasticity
- positive regulation of protein secretion
- maintenance of blood-brain barrier
- stress-activated MAPK cascade
- positive regulation of protein localization to nucleus
- macromolecular complex assembly
- synapse organization
- Rab protein signal transduction
- substrate-dependent cell migration, cell extension
- cell-cell junction organization
- nerve growth factor receptor signaling pathway
- negative regulation of transforming growth factor beta1 production
- negative regulation of small GTPase mediated signal transduction
- regulation of actin cytoskeleton organization
- cell-cell adhesion mediated by cadherin
- renal albumin absorption
- cell proliferation
- response to wounding
- lymph node development
- response to virus
- immunological synapse formation
- endothelium development
- negative regulation of neuron apoptotic process
- cell division
- response to oxidative stress
- protein kinase B signaling cascade
- response to insulin stimulus
- liver development
- transforming growth factor beta1 production
- cell migration
- T cell receptor signaling pathway
- response to transforming growth factor beta stimulus
- membrane organization
- signal transduction
- protein catabolic process
- actin filament polymerization
- collateral sprouting
- glucose import
- protein secretion
- filopodium assembly
- adipose tissue development
- ERK1 and ERK2 cascade
- localization of cell
- glomerular visceral epithelial cell differentiation
- lipid metabolic process
Cellular Component
Where in the cell the gene product is active
- slit diaphragm
- cell leading edge
- centriolar satellite
- late endosome
- nuclear envelope lumen
- fibrillar center
- plasma membrane
- podosome
- growth cone
- dendrite
- extracellular vesicular exosome
- cytoplasm
- ruffle
- actin cytoskeleton
- vesicle
- neuromuscular junction
- filamentous actin
- trans-Golgi network membrane
- axon
Molecular Function
What the gene product does at the molecular level
- actin filament binding
- identical protein binding
- protein binding
- cadherin binding
- structural constituent of cytoskeleton
- clathrin binding
- SH3 domain binding