PHACTR4

Last update 08 May 2025

Basic Info

Synonyms

FLJ13171, PHACTR4, phosphatase and actin regulator 4

+ [1]

Introduction

Regulator of protein phosphatase 1 (PP1) required for neural tube and optic fissure closure, and enteric neural crest cell (ENCCs) migration during development. Acts as an activator of PP1 by interacting with PPP1CA and preventing phosphorylation of PPP1CA at 'Thr-320'. During neural tube closure, localizes to the ventral neural tube and activates PP1, leading to down-regulate cell proliferation within cranial neural tissue and the neural retina. Also acts as a regulator of migration of enteric neural crest cells (ENCCs) by activating PP1, leading to dephosphorylation and subsequent activation of cofilin (COF1 or COF2) and repression of the integrin signaling through the RHO/ROCK pathway (By similarity).

100 Clinical Results associated with PHACTR4

100 Translational Medicine associated with PHACTR4

0 Patents (Medical) associated with PHACTR4

Literatures (Medical) associated with PHACTR4

01 Apr 2025·Human Genetics and Genomics Advances

De novo missense variants in the RPEL3 domain of PHACTR4 in individuals with overlapping congenital anomalies

Article

Author: Carere, Deanna Alexis ; Torti, Erin ; De Bie, Isabelle ; Mullegama, Sureni V ; Mercier, Angelique ; Folk, Leandra ; Monaghan, Kristin G ; Redlich, Olivia L ; Wentzensen, Ingrid M ; Juusola, Jane ; Reich, Adi ; McGivern, Bobbi

PHACTR4 is proposed to play a role in embryonic development but has yet to be associated with human disease. Here, we report the detailed clinical features of two individuals for whom molecular diagnostic testing was undertaken at a large diagnostic laboratory and who were found to harbor rare, damaging de novo missense variants in the conserved RPEL3 domain of PHACTR4. We also present aggregate information on additional individuals in whom missense variants in the same PHACTR4 gene region were detected. All presented with overlapping phenotypes. Features present in at least half of these individuals included cleft palate, ophthalmologic abnormalities, hearing impairment, dysmorphic facial features, digital anomalies, renal/urinary anomalies, growth delay, microcephaly, abnormal brain imaging, and neurodevelopmental abnormalities; some individuals had additional unique findings as well. The proposed cellular function of PHACTR4 and information from related genes with variants in an RPEL domain suggest that PHACTR4 is a promising candidate gene for human disease. We hope that this report will promote additional research interest in the PHACTR4 gene and lead to the publication of additional cases, to potentially establish a causative relationship and to further delineate the phenotypic and variant spectrum of a PHACTR4-related disorder.

04 Jan 2025·Journal of Animal Science

A meta-analysis of genome-wide association studies to identify candidate genes associated with feed efficiency traits in pigs

Review

Author: Marques, Daniele B D ; Veroneze, Renata ; Silva, Delvan A da ; Silva, Maria Rita Gonçalves da ; Lopes, Paulo S ; Brito, Luiz F ; Machado, Inaê I

AbstractPig production is an agricultural sector of great economic and social relevance to Brazil and global markets. Feed efficiency traits directly influence the sustainability of pig production due to the economic impact of feed costs on the production system and the environmental footprint of the industry. Therefore, breeding for improved feed efficiency has been a target of worldwide pig breeding programs. Genome-wide association studies (GWAS) enable the assessment of the genetic background of complex traits, which contributes to a better understanding of the biological mechanisms regulating their phenotypic expression. In this context, the primary objective of this study was to identify and validate genomic regions and candidate genes associated with feed conversion ratio (FCR) and residual feed intake (RFI) in pigs based on a comprehensive systematic review and meta-analysis of GWAS. The METAL software was used to implement the meta-analysis and the Bonferroni multiple testing correction considering a significance threshold 0.05. The significant single nucleotide polymorphisms (SNPs) in the meta-analysis were used to identify candidate genes, followed by a functional genomic enrichment analysis. The systematic review identified 13 studies, of which 7 evaluated FCR, 3 evaluated RFI, and 3 studies investigated both traits, with 160 and 96 SNPs identified for FCR and RFI, respectively. After the meta-analysis, 145 markers were significantly associated with FCR and 90 with RFI. The gene annotation process resulted in 105 and 114 genes for FCR and RFI, respectively. The enrichment analysis for FCR resulted in 16 significant gene ontology (GO) terms, while 6 terms were identified for RFI. The main GO terms were actin cytoskeleton (GO_BP:0030036), membrane (GO_CC:0016020), integral components of the peroxisomal membrane (GO_CC:0005779), and carbohydrate-binding (GO_MF:0030246). The main candidate genes identified were MED18, PHACTR4, ABCC2, TRHDE, FRS2, FAR2 and FIS1 for FCR, and ADGRL2, ASGR1, ASGR2, and MAN2B1 for RFI. These findings contribute to a better understanding of the genetic mechanisms associated with feed efficiency traits in pigs, providing a foundation for future improvements in pig breeding programs.

01 Jul 2024·International Journal of Biological Macromolecules

Targeting Phactr4 to rescue chronic stress-induced depression-like behavior in rats via regulating neuroinflammation and neuroplasticity

Article

Author: Chen, Xiao ; Chang, Mengni ; Yu, Zhaoying ; Wang, Wenjing ; Lan, Tian ; Yu, Shuyan ; Wang, Changmin ; Li, Ye

Depression is a neuropsychiatric disorder characterized by persistent pleasure loss and behavioral despair. However, the potential mechanisms and therapeutic targets for depression treatment remain unclear. Therefore, identifying the underlying pathogenesis of depression would promote the development of novel treatment and provide effective targets for antidepressant drugs. In this study, proteomics analysis showed that the expression level of phosphatase and actin regulator 4 (Phactr4) was significantly increased in the CA1 hippocampus of depressed rats. The upregulated Phactr4 might induce dysfunction of the synaptic structure via suppressing the p-LIMK/p-Cofilin signaling pathway, and promote neuroinflammation via activating the NF-κB/NLRP3 pathway, which ultimately contributes to the pathogenesis of depression. In contrast, the downregulation of Phactr4 in hippocampal CA1 of depressed rats alleviated depression-like behaviors, along with reducing neuroinflammation and improving synaptic plasticity. In conclusion, these findings provide evidence that Phactr4 plays an important role in regulating neuroinflammatory response and impairment of synaptic plasticity, effects seem to involve in the pathogenesis of depression, and Phactr4 may serve as a potential target for antidepressant treatment.

Analysis

Perform a panoramic analysis of this field.

view full example data

AI Agents Built for Biopharma Breakthroughs

Accelerate discovery. Empower decisions. Transform outcomes.

Get started for free today!

Accelerate Strategic R&D decision making with Synapse, PatSnap’s AI-powered Connected Innovation Intelligence Platform Built for Life Sciences Professionals.

Start your data trial now!

Synapse data is also accessible to external entities via APIs or data packages. Empower better decisions with the latest in pharmaceutical intelligence.

Bio

Bio Sequences Search & Analysis

Chemical

Chemical Structures Search & Analysis

PHACTR4

Basic Info

Related

Analysis