CD2AP

CD2-associated protein is a protein that in humans is encoded by the CD2AP gene.^[5][6]

CD2AP
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2FEI, 2J6F, 2J6K, 2J6O, 2J7I, 3AA6, 3LK4, 3U23, 4WCI, 4X1V
Identifiers
Aliases	CD2AP, CMS, CD2-associated protein, CD2 associated protein
External IDs	OMIM: 604241; MGI: 1330281; HomoloGene: 7663; GeneCards: CD2AP; OMA:CD2AP - orthologs
Gene location (Human) Chr. Chromosome 6 (human)[1] Band 6p12.3 Start 47,477,789 bp[1] End 47,627,263 bp[1]
Gene location (Mouse) Chr. Chromosome 17 (mouse)[2] Band 17|17 B3 Start 43,103,842 bp[2] End 43,187,556 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in jejunal mucosa mucosa of colon mucosa of sigmoid colon duodenum rectum glomerulus amniotic fluid metanephric glomerulus oral cavity germinal epithelium Top expressed in gastrula gastric mucosa mucous cell of stomach renal corpuscle epithelium of stomach medullary collecting duct urothelium decidua aortic valve secondary oocyte More reference expression data BioGPS n/a
Gene ontology Molecular function beta-catenin binding SH3 domain binding protein-containing complex binding structural constituent of cytoskeleton protein C-terminus binding protein binding vascular endothelial growth factor receptor binding cadherin binding Cellular component filamentous actin cell projection cell-cell junction ruffle endocytic vesicle cell leading edge actin cytoskeleton perinuclear region of cytoplasm extracellular exosome cytoskeleton cytoplasm plasma membrane cell junction protein-containing complex Biological process regulation of actin cytoskeleton reorganization negative regulation of transforming growth factor beta1 production vesicle organization substrate-dependent cell migration, cell extension cell division cell cycle cell migration regulation of receptor-mediated endocytosis signal transduction proteasome-mediated ubiquitin-dependent protein catabolic process positive regulation of protein localization to nucleus actin filament organization negative regulation of small GTPase mediated signal transduction cell-cell adhesion protein-containing complex assembly positive regulation of protein secretion Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 23607 12488 Ensembl ENSG00000198087 ENSMUSG00000061665 UniProt Q9Y5K6 Q9JLQ0 RefSeq (mRNA) NM_012120 NM_009847 RefSeq (protein) NP_036252 NP_033977 Location (UCSC) Chr 6: 47.48 – 47.63 Mb Chr 17: 43.1 – 43.19 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Function

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.^[6]

Interactions

CD2AP has been shown to interact with:

• Cbl gene,^[7][8][9]
• NPHS2,^[10]
• Nephrin,^[11] and
• RAB4A.^[9]

See also

• Focal segmental glomerulosclerosis