PKD2 Antibody, Biotin conjugated

1. PKD2 and PKD1 genes are mutated in autosomal dominant polycystic kidney disease. PKD2 can form either a homomeric cation channel or a heteromeric complex with the PKD1 receptor, presumed to respond to ligand(s) and/or mechanical stimuli. Here, we identify a two-residue hydrophobic gate in PKD2L1, and a single-residue hydrophobic gate in PKD2. PMID:29899465
2. this is the first report of autosomal dominant polycystic kidney disease complicated with aortic dissection caused by PKD2 mutation PMID:29378535
3. This noticeable hot spot regions hold higher frequency (50%) of pathogenic / likely pathogenic genetic variants constituting single nucleotide variants than large deletion and insertion that actually represents only 41.08% of coding sequence of PKD2. Statistically significant association for IVS3-22AA genotype was observed with PKD, while association of IVS4+62C>T was found insignificant. PMID:29321346
4. The novel pathogenic variant in c.637C> T in PKD2 is very interesting since they may represent Italian clusters. PMID:27499327
5. Upregulation of miR-106b-5p or downregulation of PKD2 expression can cause A549/DDP cells to become considerably more sensitive to cisplatin. The results showed that miR-106b-5p enhanced the sensitivity of A549/DDP cells to cisplatin by targeting the expression of PKD2. PMID:28723865
6. investigated the interaction network of human PKD2 in the cytosol and in Golgi-enriched subcellular protein fractions PMID:27559607
7. We aimed to revisit PKD2 prevalence, clinical presentation, mutation spectrum, and prognosis through the Genkyst cohort. Patients with PKD2-related dominant polycystic kidney disease typically present with mild disease PMID:28356211
8. Here, we review previous studies that connect the molecular properties of the domains of PC2 Cterm to distinct aspects of PC2 functions and regulation. PMID:26857659
9. TRPP2 mutations are associated with autosomal dominant polycystic kidney disease. PMID:28154010
10. Two cryo-EM structures of distinct channel states of full-length human PC2 in complex with lipids and cations. PMID:28092368
11. The structure of human PC2 in a closed conformation, solved by electron cryomicroscopy at 4.2-A resolution. PMID:27991905
12. SNPs in and near PKD2 showed significant evidence of association in individual samples of black adults (rs17013735, P-value=0.0009) and white adults (rs11938025; P-value=0.0005; rs2725270, P-value=0.003). PMID:28100911
13. Pancreatic cysts were more prevalent in patients with ADPKD with PKD2 mutation than in control subjects or patients with PKD1 mutation. PMID:27046073
14. This suggests that a precise dosage of PC2 is necessary for an adequate mechanosensitive alpha-actinin recruitment at junctions. PMID:27575580
15. TRPP2 may be used as a biomarker for evaluating patient prognosis and as a novel therapeutic target in human laryngeal squamous cell carcinoma. PMID:27832627
16. Novel PKD2 mutations in Chinese autosomal dominant polycystic kidney disease patients PMID:26632257
17. Two neutral missense PKD2 variants indentified in exon1 c.83G>C (p.R28P) and c.568G>A (p.A190T), which the former segregate with the mutation in affected relatives, and two new intronic and 3'UTR variants, c.1548+63C>T and c.*363delA. PMID:26950445
18. this study presents the cryo-EM structure of PKD2 in lipid bilayers at 3.0 A resolution, which establishes PKD2 as a homotetrameric ion channel and provides insight into potential mechanisms for its activation. PMID:27768895
19. PKD2 and RSK1 regulate integrin beta4 phosphorylation at threonine 1736 to stabilize keratinocyte cell adhesion and its hemidesmosomes. PMID:26580203
20. The coiled-coil domain in the PC2 C-terminal forms a stable helix bundle regardless of the presence of Ca(2+). PMID:26574436
21. Results show that some of the previously reported missense or synonymous mutations in PKD2 gene caused altered pre-mRNA splicing. PMID:26692149
22. PKD2 is a core factor in the formation of this multiprotein complex at the TGN that controls constitutive secretion of matrix metalloproteinase cargo. PMID:26507660
23. Human polycystin-2 transgene dose-dependently rescues autosomal-dominant polycystic kidney disease phenotypes in Pkd2 mutant mice PMID:26435415
24. FLNA anchors PC2 to the actin cytoskeleton through complex PC2-FLNA-actin to reduce degradation and increase stability, and possibly regulate PC2 function in a Ca-dependent manner. PMID:25861040
25. The data indicate that the cAMP pathway regulates PC2-mediated cation transport in the hST PMID:26269590
26. POlycystin-2 and its patogenic mutants inhibit PIEZO1 activity in renal tubular epithelial cells. PMID:24157948
27. There is only one Ca2+ binding site in the human PC2 C-terminus, located within its EF-hand domain; the Ca2+ binding affinity of the C-terminal trimer is greatly enhanced. PMID:25716316
28. TRPV4, TRPC1, and TRPP2 contribute to the ion permeation pore of the channels PMID:25114176
29. Data indicate that N-Glycosylation of transient receptor potential channel TRPP2 is required for adequate TRPP2 protein levels. PMID:24719335
30. The molecular analysis of an Iranian family showed that the PKD was due to a PKD2 mutation. PMID:24011172
31. Probable pathogenic mutations in the PKD2 gene were detected in patients with autosomal dominant polycystic kidney disease. PMID:24694054
32. analysis of EF hand motifs and how they affect the calcium dependence of polycystin-2 function PMID:24558196
33. CIB1a is a novel mediator of PKD2-driven carcinogenesis. PMID:23503467
34. The median age at onset of dialysis was significantly earlier in patients with PKD1 mutations (52 years) than in patients with PKD2 mutations (65.5 years) and those with an undetermined genotype (67 years) by survival analysis. PMID:23985799
35. Overexpression of polycystin (PC)1, but not a carboxy-terminal truncation mutant, increases ciliary PC2 expression levels in mouse kidney cells. PMID:24009235
36. In human subjects we found an association between ADPKD and IDCM and suggest that PKD mutations contribute to the development of heart failure PMID:23376035
37. C-terminal polycystin-2 phosphorylation influences the interaction with PIGEA14 PMID:23838289
38. early growth response 1, a transcription factor that binds to the NDRG1 promoter, was mediated in the NDRG1 expression regulation by PKD2. PMID:23212942
39. these data suggest that PKD2 and PKD3 coordinate to promote prostate cancer cell invasion through p65 NF-kappaB- and HDAC1-mediated expression and activation of uPA. PMID:22797919
40. PKD2 testing has a clinically significant detection rate in the pre-ESRF population. PMID:22863349
41. rs2728121 in PKD2 may contribute to the development of gout in Europeans. PMID:22609445
42. study indicates that filamins are important regulators of polycystin-2 channel function, and further links actin cytoskeletal dynamics to the regulation of this channel protein PMID:22802962
43. PC2 and the Ca(2+)-dependent transient receptor potential channels in general are regulated by similar conformational changes in their cytoplasmic domains that are propagated to the channel pore. PMID:22474326
44. role in interferon-gamma-induced PD-L1 surface expression on human oral squamous carcinoma PMID:22204817
45. This study reports for the first time a patient with neonatal onset of polycystic kidney disease homozygous for an incomplete penetrant PKD2 missense variant due to uniparental disomy PMID:22114106
46. PKD2:c.2020 1_2020delAG is a mutation found in a Chinese family with autosomal dominant polycystic kidney disease. PMID:21983717
47. study reports the association of autosomal dominant polycystic kidney disease resulting from a mutation in PKD2 and left-right asymmetry defect PMID:21719175
48. High Protein kinase D2 is associated with glioblastoma growth and tumor formation. PMID:21727210
49. Findings clarify the structural properties of PC2t domain and strongly support a homotetramer assembly of PC2. PMID:21622852
50. In the molecular pathway to secretion, PKD2 is a key component of the PKC-mediated pathway to platelet activation and thrombus formation through its selective regulation of dense granule secretion. PMID:21527521

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HGNC: 9009

UNIGENE: Hs.181272

KEGG: hsa:5311

STRING: 9606.ENSP00000237596

OMIM: 173910