CCM2 Antibody

1. Case-control study to investigate the possible association of others polymorphisms (c.485+65 C/G, c.989+63 C/G, c.1980 A/G in CCM1 gene, c.472+127 C/T in CCM2 and c.150 G/A in CCM3) with cerebral cavernous malformations. The five polymorphisms were characterized in 64 sporadic patients and in 90 healthy controls by ASO-PCR. Results suggest that some polymorphisms in CCM genes could play an important role in the disease. PMID: 28870584
2. A novel missense mutation in CCM2 were detected in cerebral cavernous malformations patient. Several CCM2 gene polymorphisms in sporadic CCM patients were reported. PMID: 28000143
3. Data suggest that signaling via ANP/ANPR (atrial natriuretic factor/ANP receptor) in vascular endothelial cells activates PAK4 (p21-activated kinase 4) and CCM2 (cerebral cavernous malformation 2 protein), resulting in phosphorylation of MLC (myosin light chain), cytoskeletal reorganization, and cell spreading; kinase homology domain of ANPRA (guanylyl cyclase-A) activates downstream targets of ANP/ANPR signaling. PMID: 28432261
4. Studies suggest that the 3 proteins of the Cerebral Cavernous Malformations (CCM) complex KRIT1/CCM1, CCM2/malcavernin and CCM3/PDCD10 not only require one another for reciprocal stabilization, but also act as a platform for signal transduction. PMID: 26356566
5. a new mutation in MGC4607/CCM2 was identified in several family members with spinal and cutaneous angiomas. PMID: 25869611
6. both CCM2 and CCM3 are required for normal endothelial cell network formation. PMID: 25825518
7. Data find that several disease-associated missense mutations in CCM2 have the potential to interrupt the KRIT1-CCM2 interaction by destabilizing the CCM2 PTB domain and that a KRIT1 mutation also disrupts this interaction PMID: 25525273
8. Prevalence, frequency and characterization of CCM1, CCM2 and CCM3 variants in cerebral cavernous malformation Spanish patients. PMID: 24466005
9. Cerebral cavernous malformation(CCM)s develop because of loss of heart of glass (HEG)-independent CCM2 signaling in murine transgenic endothelium of central nervous system after birth. PMID: 24643410
10. DNA sequencing and deletion/duplication testing of the CCM1, CCM2, and CCM3 genes in the proband revealed a CCM1 c.601CNG mutation. PMID: 24007869
11. The identification of other four new mutations in 40 sporadic patients with either single or multiple cerebral cavernous malformations, is reported. PMID: 24058906
12. CCM2 mutations are associated with cerebral cavernous malformation in some Japanese patients. PMID: 23485406
13. A previously undescribed deletion mutation in CCM2 gene exon 5 is described in an Italian family with multiple cerebral cavernous malformations and epilepsy. PMID: 23000020
14. Here we describe the molecular characterization of an Italian child, a symptomatic patient, affected by multiple cerebral cavernous malformations, without a family history of the disease and harbouring a new MGC4607 gene mutation. PMID: 22415356
15. structural characterization of CCM2 PMID: 23266514
16. Down-modulation of STK25, but not STK24, rescued medulloblastoma cells from NGF-induced TrkA-dependent cell death, suggesting that STK25 is part of the death-signaling pathway initiated by TrkA and CCM2. PMID: 22782892
17. Diffraction data were collected from native and selenomethionine-substituted crystals of CCM2-Ct to resolutions of 2.9 and 2.7 A, respectively PMID: 22684070
18. The possible association of CCM2 polymorphisms with sporadic cerebral cavernous malformation, was investigated. PMID: 22378217
19. Data suggest that the two base pair change in CCM2 has the potential to simplify genetic testing for cerebral cavernous malformation in the Ashkenazi Jewish population. PMID: 21543988
20. This study shows for the first time that CCM2 is present in the developing human neocortex. PMID: 21569831
21. Among familial cases of Cerebral cavernous malformations 67% had a mutation in CCM1, 5.5% in CCM2, and 5.5% in CCM3 PMID: 21029238
22. Genetic variations could interfere with the proper CCM1/CCM2/CCM3 protein complex thus explaining the observed clinical variability in cerebral cavernous malformations in a large family. PMID: 20419355
23. The KRIT1-CCM2 interaction regulates endothelial junctional stability and vascular barrier function by suppressing activation of the RhoA/ROCK signaling pathway. This pathway is dysregulated in human cerebral cavernous malformation endothelium. PMID: 20308363
24. MGC4607 encodes a protein with a phosphotyrosine-binding domain that may be part of the complex pathway of integrin signaling that, when perturbed, causes abnormal vascular morphogenesis in the brain, leading to CCM formation. PMID: 14624391
25. KRIT1, Malcavernin, and PDCD10 are differentially expressed in cerebral venous malformations and cerebral cavernous malformations PMID: 16239636
26. CCM1 and CCM2 have similar expression patterns during development and are involved in the same pathway important for central nervous system vascular development PMID: 16373645
27. Five percent of patients with familial cerebral cavernomas have retinal cavernomas. These lesions are clinically asymptomatic. They can be associated with any of the 3 cerebral cavernous malformation genes. PMID: 16769843
28. The prevalence of CCM2 is much higher than previously predicted, nearly equal to CCM1, and that large genomic deletions in the CCM2 gene represent a major component of this disease. PMID: 17160895
29. Through its NPXY motifs, Krit1 interacts with malcavernin and may shuttle it through the nucleus via its nuclear localization signal and nuclear export signals, thereby regulating its cellular function. PMID: 17290187
30. In a CCM2 affected family, we report a novel causative mutation, (54_55delAC) in exon 2 of the MGC4607 gene, that produces a truncated protein containing only 22 amino acids PMID: 17440989
31. CCM3 (PDCD10) coprecipitates and colocalizes with CCM2. CCM3 directly binds to serine/threonine kinase 25 (STK25, YSK1, SOK1) and the phosphatase domain of Fas-associated phosphatase-1 (FAP-1, PTPN13, PTP-Bas, PTP-BL). PMID: 17657516
32. data are in agreement with a loss-of-function mechanism for CCM mutations, uncover an N-terminal CCM2 domain required for CCM1 binding, and demonstrate full-length CCM2 as the essential core protein in the CCM1/CCM2/CCM3 complex PMID: 18300272
33. Biallelic germline and somatic mutations were identified in CCM1, CCM2 or PDCD10 from all forms of inherited cerebral cavernous malformations. PMID: 19088123
34. Complete localized loss of either CCM1, CCM2 or CCM3 protein expression depend on the inherited mutation in cerebral cavernous malformations. PMID: 19088124
35. CCM2 regulates endothelial cytoskeletal architecture, cell-to-cell interactions and lumen formation. Heterozygosity at Ccm2, a genotype equivalent to that in human CCM, results in impaired endothelial barrier function PMID: 19151728
36. Methods Multiplex Ligation-dependent Probe Amplification analysis integrates the consecutive sequence analysis of the 3 genes (Krit1/CCM1, MGC4607/CCM2, and PDCD10/CCM3) known to be responsible for cerebral cavernous malformation lesions. PMID: 19199464
37. Aberrant splicing due to a silent nucleotide change in CCM2 gene in a family with cerebral cavernous malformation PMID: 19475721
38. CCM2 protein contributes to vasculogenesis and angiogenesis in human placenta. PMID: 19688696
39. CCM2 is a key mediator of TrkA-dependent cell death in pediatric neuroblastic tumors PMID: 19755102

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HGNC: 21708

OMIM: 603284

KEGG: hsa:83605

STRING: 9606.ENSP00000370503

UniGene: Hs.148272