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12488 Cd2ap

12488

Cd2ap

CD2-associated protein

protein-coding

Mus musculus

基因描述

Type Description
Definition CD2-associated protein

研究结论

Date Results Publications
2019-08-24 12:20:00 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. 30612599
2019-05-18 10:54:00 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. 28878342
2019-03-30 12:10:00 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 29729186
2019-03-16 12:28:00 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. 28814739
2017-11-18 13:35:00 Ang II induces the relocalization and reduction of CD2AP via AT1R, which would cause podocyte apoptosis by the suppression of CD2AP/PI3-K signaling 27590856

名称对应

Type IDs
Synonymous AL024079, C78928, METS-1, Mets1
Gene
UniProtKB-ID: CD2AP_MOUSE
UniprotKB: Q9JLQ0
UniParc: UPI0000215C34
EMBL: BC019744, AF077003, AC111082, AF149092, AJ459109
Ensembl: ENSMUSG00000061665
KO: mmu:12488
Nucleutide sequences
EMBL-CDS: AAF73150.1, CAD30510.1, AAC36099.1, AAH19744.1
Ensembl_TRS: ENSMUST00000024709
Protein sequencees
Ensembl_PRO: ENSMUSP00000024709
RefSeq: XP_011244566.1, XP_011244565.1, NP_033977.3
Others
UniRef100: UniRef100_Q9JLQ0
UniRef90: UniRef90_F1LRS8
UniRef50: UniRef50_F1LRS8
UniGene: Mm.218637
CCDS: CCDS50114.1

全选

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研究热度

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