PPP6R2

Last update 23 Jan 2025

Basic Info

Synonyms

dJ579N16.1, KIAA0685, PP6R2

+ [6]

Introduction

Regulatory subunit of protein phosphatase 6 (PP6). May function as a scaffolding PP6 subunit. Involved in the PP6-mediated dephosphorylation of NFKBIE opposing its degradation in response to TNF-alpha.

100 Clinical Results associated with PPP6R2

100 Translational Medicine associated with PPP6R2

0 Patents (Medical) associated with PPP6R2

Literatures (Medical) associated with PPP6R2

01 Jan 2025·Clinical Genetics

Clinical characteristics, longitudinal adaptive functioning, and association with electroencephalogram activity in PPP2R5D‐related neurodevelopmental disorder

Article

Author: Calamia, Sean ; Bain, Jennifer M. ; Montes, Jacqueline ; Kanner, Cara H. ; Pini, Nicolò ; Ryu, Joseph ; Goldman, Sylvie ; Shen, Yufeng ; Li, Wenxing ; Chung, Wendy K. ; Sudnawa, Khemika K.

AbstractProtein phosphatase 2 regulatory subunit B56δ related neurodevelopmental disorder (PPP2R5D‐related NDD) is largely caused by de novo heterozygous missense PPP2R5D variants. We report medical characteristics, longitudinal adaptive functioning, and in‐person neurological, motor, cognitive, and electroencephalogram (EEG) activity for PPP2R5D‐related NDD. Forty‐two individuals (median age 6 years, range = 0.8–25.3) with pathogenic/likely pathogenic PPP2R5D variants were assessed, and almost all variants were missense (97.6%) and de novo (85.7%). Common clinical symptoms were developmental delay, hypotonia, macrocephaly, seizures, autism, behavioral challenges, and sleep problems. The mean Gross motor functional measure‐66 was 60.2 ± 17.3% and the mean Revised upper limb module score was 25.9 ± 8.8. The Vineland‐3 adaptive behavior composite score (VABS‐3 ABC) at baseline was low (M = 61.7 ± 16.8). VABS‐3 growth scale value scores increased from baseline in all subdomains (range = 0.6–5.9) after a mean follow‐up of 1.3 ± 0.3 years. EEG beta and gamma power were negatively correlated with VABS‐3 score; p < 0.05. Individuals had a mean Quality‐of‐life inventory‐disability score of 74.7 ± 11.4. Twenty caregivers (80%) had a risk of burnout based on the Caregiver burden inventory. Overall, the most common clinical manifestations of PPP2R5D‐related NDD were impaired cognitive, adaptive function, and motor skills; and EEG activity was associated with adaptive functioning. This clinical characterization describes the natural history in preparation for clinical trials.

01 Nov 2024·Translational Cancer Research

Dephosphorylation-related signature predicts the prognosis of papillary renal cell carcinoma

Article

Author: Feng, Jia ; Si, Yuankai ; Hu, Dengmin ; Tang, Hui ; Huang, Yilan ; Jiang, Longyang ; Luo, Li ; Liu, Jing

BackgroundPhosphorylation-dephosphorylation is one of the most common and critical cellular activities. It is essential for cell cycle control and leads to large changes in protein conformation, which can alter protein function and coordinate multiple functions such as cell metabolism, gene transcription and translation, signaling, growth, differentiation, and apoptosis. Alterations in the phosphorylated proteome have been shown in many cancers. Many phosphatases that catalyze dephosphorylation have been described as oncogenes and tumor suppressors. Papillary renal cell carcinoma (PRCC) is the second most common subtype of kidney cancer, in which most patients diagnosed with PRCC are already in advanced stages with a poor prognosis. It is necessary to identify reliable predictors associated with early diagnosis and prognosis of PRCC. The study used PRCC patients data from The Cancer Genome Atlas (TCGA) database to evaluate dephosphorylation-related genes and build a panel of prognostic gene signatures which predicts accurately the outcome of PRCC patients.MethodsThe mutation data, and the fragments per kilobase of exon model per million mapped fragments (FPKM) data together with the corresponding clinical information were downloaded from TCGA database for 288 PRCC patients. Lasso regression algorithm (LASSO) and multivariate Cox regression analysis were performed to produce a panel of risk-related genetic signatures.ResultsWe analyzed 417 dephosphorylation-associated genes and, finally, identified 9 genes (ADORA1, CDKN3, CRY2, PLPPR4, PPA2, PPP2R2B, PPP6R2, PTP4A1, TPTE2) and constructed a panel of signatures associated with prognosis. The area under the receiver operating characteristic curve (AUC) value was 0.833 for the prognostic risk score signature. It was confirmed that the risk score was an independent predictor of prognosis [hazard ratio (HR) =1.013, 95% confidence interval (CI): 1.002-1.024, P=0.02].ConclusionsWe identified 9 genes associated with dephosphorylation differentially expressed in PRCC tumor tissues and established the first prognostic model based on dephosphorylation-associated genes in PRCC patients. It was shown to be a valid and reliable prognostic indicator that could predict the prognosis of PRCC patients accurately. This study has a lot of potential value for future studies.

01 Sep 2024·Cancer Science

Protein phosphatase 6 promotes stemness of colorectal cancer cells

Article

Author: Ohama, Takashi ; Sato, Koichi ; Nakajima, Masao ; Tomochika, Shinobu ; Kimura, Yuta ; Enjoji, Shuhei ; Fujiwara, Nobuyuki ; Nagano, Hiroaki ; Tsunedomi, Ryouichi

AbstractColorectal cancer (CRC) remains a significant global health concern, demanding a more profound comprehension of its molecular foundations for the development of improved therapeutic strategies. This study aimed to elucidate the role of protein phosphatase 6 (PP6), a member of the type 2A protein phosphatase family, in CRC. Protein phosphatase 6 functions as a heterotrimer with a catalytic subunit (PP6c), regulatory subunits (PP6Rs; PP6R1, PP6R2, and PP6R3), and scaffold subunits (ANKRD28, ANKRD44, and ANKRD52). Elevated PP6c expression has been identified in CRC tissues compared to normal mucosa, aligning with its potential involvement in CRC pathogenesis. PP6c knockdown resulted in decreased colony‐forming ability and in vivo proliferation of various CRC cell lines. Transcriptome analysis revealed that PP6c knockdown resulted in altered expression of genes associated with cancer stemness. Notably, the PP6c‐PP6R3 complex is a key player in regulating cancer stem cell (CSC) markers. Additionally, increased PP6c expression was observed in CSC‐like cells induced by sphere formation, implicating the role of PP6c in CSC maintenance. This study highlights the role of PP6c in CRC and suggests that it is a potential therapeutic target disrupting a pathway critical for CRC progression and stem cell maintenance.

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PPP6R2

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