Study identified a homozygous frameshift mutation in CD2AP (p.S198fs) in three siblings born of consanguineous parents who developed childhood-onset focal segmental glomerulosclerosis (FSGS) and end stage renal disease. When the same mutation was introduced in mice by gene editing, the mice developed FSGS and kidney failure. These results provide conclusive evidence that homozygous mutation of CD2AP causes FSGS in humans. | Recessive mutation in CD2AP causes focal segmental glomerulosclerosis in humans and mice. Takano T, Bareke E, Takeda N, Aoudjit L, Baldwin C, Pisano P, Matsuda J, El Andalousi J, Muhtadie L, Bernard C, Majewski J, Miyazaki T, Yamamura KI, Gupta IR. | 08/24/2019 |
The data suggest that inhibition of the catalytic activity of SHIP2 is beneficial in reducing oxidative stress, but leads to deleterious increase in apoptosis in podocytes with reduced expression of CD2AP. | Inhibition of SHIP2 in CD2AP-deficient podocytes ameliorates reactive oxygen species generation but aggravates apoptosis. Saurus P, Tolvanen TA, Lindfors S, Kuusela S, Holthöfer H, Lehtonen E, Lehtonen S., Free PMC Article | 05/18/2019 |
CD2AP is indicated as a protein up-regulated by HCV infection, which, in turn, stimulates HCV propagation and steatosis by disrupting insulin signaling; targeting CD2AP may offer an opportunity for alleviating HCV infection and its associated liver pathology | CD2-Associated Protein Contributes to Hepatitis C, Virus Propagation and Steatosis by Disrupting Insulin Signaling. Zhang H, Zhang C, Tang H, Gao S, Sun F, Yang Y, Zhou W, Hu Y, Ke C, Wu Y, Ding Z, Guo L, Pei R, Chen X, Sy MS, Zhang B, Li C., Free PMC Article | 03/30/2019 |
We used the HIM technology to investigate at nanometer scale resolution the ultrastructural alterations of the glomerular filtration apparatus in mice lacking the critical slit diaphragm-associated protein CD2AP, highlighting the great potential of HIM to provide new insights into the biology and (patho)physiology of glomerular diseases. | Re-characterization of the Glomerulopathy in CD2AP Deficient Mice by High-Resolution Helium Ion Scanning Microscopy. Tsuji K, Păunescu TG, Suleiman H, Xie D, Mamuya FA, Miner JH, Lu HAJ., Free PMC Article | 03/16/2019 |
Ang II induces the relocalization and reduction of CD2AP via AT1R, which would cause podocyte apoptosis by the suppression of CD2AP/PI3-K signaling | CD2-associated protein/phosphoinositide 3-kinase signaling has a preventive role in angiotensin II-induced podocyte apoptosis. Park HY, Seong SB, Min SY, Ha TS. | 11/18/2017 |
Tank1/Tank2 inhibition aggravates kidney injury in the absence of CD2AP. | Tankyrase inhibition aggravates kidney injury in the absence of CD2AP. Kuusela S, Wang H, Wasik AA, Suleiman H, Lehtonen S., Free PMC Article | 10/28/2017 |
Bin1 and CD2AP keep APP and BACE1 apart in early endosomes by distinct mechanisms in axon and dendrites. Individuals carrying variants of either factor would slowly accumulate Abeta in neurons increasing the risk for late-onset AD. | Bin1 and CD2AP polarise the endocytic generation of beta-amyloid. Ubelmann F, Burrinha T, Salavessa L, Gomes R, Ferreira C, Moreno N, Guimas Almeida C., Free PMC Article | 08/19/2017 |
CD2AP forms a complex with GGA2, a clathrin adaptor, which sorts Glut4 to GSVs, suggesting a role for CD2AP in this process. | Lack of CD2AP disrupts Glut4 trafficking and attenuates glucose uptake in podocytes. Tolvanen TA, Dash SN, Polianskyte-Prause Z, Dumont V, Lehtonen S. | 09/24/2016 |
CD2AP is the first signaling molecule associated with adult sensory axonal collateral sprouting | The Adaptor Protein CD2AP Is a Coordinator of Neurotrophin Signaling-Mediated Axon Arbor Plasticity. Harrison BJ, Venkat G, Lamb JL, Hutson TH, Drury C, Rau KK, Bunge MB, Mendell LM, Gage FH, Johnson RD, Hill CE, Rouchka EC, Moon LD, Petruska JC., Free PMC Article | 09/10/2016 |
CD2AP has role in mediating blood-brain barrier integrity and cerebrovascular roles of CD2AP could contribute to its effects on Alzheimer's disease risk. | The Alzheimer's disease risk factor CD2AP maintains blood-brain barrier integrity. Cochran JN, Rush T, Buckingham SC, Roberson ED., Free PMC Article | 08/27/2016 |
CD2-Associated Protein affects Abeta levels and Abeta42/Abeta40 ratio in vitro | Effects of CD2-associated protein deficiency on amyloid-β in neuroblastoma cells and in an APP transgenic mouse model. Liao F, Jiang H, Srivatsan S, Xiao Q, Lefton KB, Yamada K, Mahan TE, Lee JM, Shaw AS, Holtzman DM., Free PMC Article | 09/26/2015 |
only the SH3 domains of CD2AP are necessary to enhance the E3 ligase activity of Cbl-3/c toward Ret51 | CD2-associated protein (CD2AP) enhances casitas B lineage lymphoma-3/c (Cbl-3/c)-mediated Ret isoform-specific ubiquitination and degradation via its amino-terminal Src homology 3 domains. Calco GN, Stephens OR, Donahue LM, Tsui CC, Pierchala BA., Free PMC Article | 05/17/2014 |
CD2AP is not involved in the regulation of type I IFNs in plasmacytoid dendritic cells. Its major function is on the actin cytoskeleton, affecting migration to local lymph nodes under conditions of inflammation. | CD2-associated protein regulates plasmacytoid dendritic cell migration, but is dispensable for their development and cytokine production. Srivatsan S, Swiecki M, Otero K, Cella M, Shaw AS., Free PMC Article | 02/22/2014 |
CD2AP deficiency results in the excretion of intact albumin in knockout mice. | Albuminuria associated with CD2AP knockout mice is primarily due to dysfunction of the renal degradation pathway processing of filtered albumin. Russo LM, Srivatsan S, Seaman M, Suleiman H, Shaw AS, Comper WD. | 01/11/2014 |
the formation of lamellipodia is mediated by a complex of cortactin, CD2AP, and actin capping protein | CD2AP links cortactin and capping protein at the cell periphery to facilitate formation of lamellipodia. Zhao J, Bruck S, Cemerski S, Zhang L, Butler B, Dani A, Cooper JA, Shaw AS., Free PMC Article | 04/27/2013 |
These data descrived the importance of concomitant decreases in podocin, CD2AP and tensin2 during septic acute renal failure-associated proteinuria. | Decreases in podocin, CD2-associated protein (CD2AP) and tensin2 may be involved in albuminuria during septic acute renal failure. Kato T, Mizuno-Horikawa Y, Mizuno S. | 05/12/2012 |
Sh3kbp1 is SUMOylated by SUMO-1, -2, and -3 and that SUMOylation is enhanced in the presence of Cd2ap. | CD2AP regulates SUMOylation of CIN85 in podocytes. Tossidou I, Niedenthal R, Klaus M, Teng B, Worthmann K, King BL, Peterson KJ, Haller H, Schiffer M., Free PMC Article | 04/14/2012 |
identifies CD2AP as the gatekeeper of the podocyte TGF-beta response through its regulation of CatL expression and defines a molecular mechanism underlying proteinuric kidney disease | CD2AP in mouse and human podocytes controls a proteolytic program that regulates cytoskeletal structure and cellular survival. Yaddanapudi S, Altintas MM, Kistler AD, Fernandez I, Möller CC, Wei C, Peev V, Flesche JB, Forst AL, Li J, Patrakka J, Xiao Z, Grahammer F, Schiffer M, Lohmüller T, Reinheckel T, Gu C, Huber TB, Ju W, Bitzer M, Rastaldi MP, Ruiz P, Tryggvason K, Shaw AS, Faul C, Sever S, Reiser J., Free PMC Article | 11/26/2011 |
Coexpression of CIN85/Ruk(L) with CD2AP led to a decreased binding of CIN85/Ruk(L) to nephrin and podocin, which indicates a functional competition between CD2AP and CIN85/Ruk(L). | CIN85/RukL is a novel binding partner of nephrin and podocin and mediates slit diaphragm turnover in podocytes. Tossidou I, Teng B, Drobot L, Meyer-Schwesinger C, Worthmann K, Haller H, Schiffer M., Free PMC Article | 09/6/2010 |
TbetaRI independently activates Smad- and CD2AP-dependent pathways in podocytes. | TbetaRI independently activates Smad- and CD2AP-dependent pathways in podocytes. Xavier S, Niranjan T, Krick S, Zhang T, Ju W, Shaw AS, Schiffer M, Böttinger EP., Free PMC Article | 01/21/2010 |
CD2-associated protein may play a crucial role in maintaining the normal function of podocytes and lowered CD2-associated protein causes podocyte injury by disrupting the cytoskeleton and disturbing the nephrin-CD2AP signaling pathway. | Downregulation of CD2-associated protein impaired the physiological functions of podocytes. Zhang C, Jiang HJ, Chang Y, Fang Z, Sun XF, Liu JS, Deng AG, Zhu ZH. | 01/21/2010 |
Distinct up- & downregulation of CD2AP occurred in various cell types at different stages of early development & organogenesis. It has various interaction partners in regulatory pathways for signaling, cytoskeletal arrangement & vesicular trafficking. | CD2-associated protein is widely expressed and differentially regulated during embryonic development. Lehtonen S, Tienari J, Londesborough A, Pirvola U, Ora A, Reima I, Lehtonen E. | 01/21/2010 |
mice with CD2AP haploinsufficiency developed glomerular changes at 9 months of age and had increased susceptibility to glomerular injury by nephrotoxic antibodies or immune complexes | CD2-associated protein haploinsufficiency is linked to glomerular disease susceptibility. Kim JM, Wu H, Green G, Winkler CA, Kopp JB, Miner JH, Unanue ER, Shaw AS. | 01/21/2010 |
The abnormality of a single podocyte molecule, caused by a single gene mutation in alpha Cd2ap can lead to hereditary nephrotic syndromes. | The relationship among nephrin, podocin, CD2AP, and alpha-actinin might not be a true 'interaction' in podocyte. Fan Q, Xing Y, Ding J, Guan N, Zhang J. | 01/21/2010 |
Cd2ap is involved in the regulation of the actin cytoskeleton and may act as a direct adapter between the actin cytoskeleton and cell membrane proteins | CD2-associated protein directly interacts with the actin cytoskeleton. Lehtonen S, Zhao F, Lehtonen E. | 01/21/2010 |