CTNND2

Last update 08 May 2025

Basic Info

Synonyms

catenin delta 2, Catenin delta-2, CTNND2

+ [5]

Introduction

Has a critical role in neuronal development, particularly in the formation and/or maintenance of dendritic spines and synapses (PubMed:25807484). Involved in the regulation of Wnt signaling (PubMed:25807484). It probably acts on beta-catenin turnover, facilitating beta-catenin interaction with GSK3B, phosphorylation, ubiquitination and degradation (By similarity). Functions as a transcriptional activator when bound to ZBTB33 (By similarity). May be involved in neuronal cell adhesion and tissue morphogenesis and integrity by regulating adhesion molecules.

100 Clinical Results associated with CTNND2

100 Translational Medicine associated with CTNND2

0 Patents (Medical) associated with CTNND2

199

Literatures (Medical) associated with CTNND2

01 Apr 2025·Advanced Science

Behavioral Abnormalities, Cognitive Impairments, Synaptic Deficits, and Gene Replacement Therapy in a CRISPR Engineered Rat Model of 5p15.2 Deletion Associated With Cri du Chat Syndrome

Article

Author: Li, Yingbo ; Liu, Yang ; Zhao, Jing ; Lan, Junying ; Chen, Di ; Yang, Feng ; Long, Shuang ; Wang, Shali ; Yu, Peng ; Wang, Yan ; Shen, Jingjing ; Wang, Yongjun

AbstractThe Cri du Chat Syndrome (CdCS), a devastating genetic disorder caused by a deletion on chromosome 5p, faces challenges in finding effective treatments and accurate animal models. Using CRISPR‐Cas9, a novel CdCS rat model with a 2q22 deletion is developed, mirroring a common genetic alteration in CdCS patients. This model exhibits pronounced deficits in social behavior, cognition, and anxiety, accompanied by neuronal abnormalities and immune dysregulation in key brain regions such as the hippocampus and medial prefrontal cortex (mPFC). The immunostaining and RNA‐seq analyses provide new insights into CdCS pathogenesis, revealing inflammatory and immune processes. Importantly, it is demonstrated that early gene replacement therapy with AAV‐Ctnnd2 alleviates cognitive impairments in CdCS rats, highlighting the potential for early intervention. However, the effectiveness of this therapy is confined to the early developmental stages and does not fully restore all CdCS symptoms. The findings deepen the understanding of CdCS pathogenesis and suggest promising therapeutic directions.

01 Mar 2025·Molecular Therapy Nucleic Acids

TMEM97 governs partial epithelial-mesenchymal transition of retinal pigment epithelial cells via the CTNND2-ADAM10 axis

Article

Author: Sherman, Nicholas E ; Ma, Jianjie ; Zhou, Xinyu ; Nagasaka, Yosuke ; Trevisan-Silva, Dilza ; Ambati, Jayakrishna ; Gelfand, Bradley D ; Guo, Lian-Wang ; Li, Jing ; Shen, Hongtao

Epithelial-mesenchymal transition (EMT) is associated with retinal pigment epithelium (RPE) dysfunction in degenerative retinal diseases. However, the role of partial EMT (pEMT), a hybrid state exhibiting both epithelial and mesenchymal markers, remains poorly understood in this context. Our previous research demonstrated that TMEM97 ablation in mice worsens photoreceptor loss in an oxidant-induced RPE damage model. Here, we link TMEM97 to pEMT in RPE cells and explore the underlying molecular mechanisms. We found that re-expressing TMEM97 in the RPE of TMEM97-knockout mice, via subretinal lentiviral delivery, mitigated oxidant (NaIO₃)-induced photoreceptor loss. Interestingly, TMEM97 knockout in ARPE19 cells in vitro led to upregulation of cadherin/adhesion-binding pathways, even without oxidant exposure. Integrated proteomic, transcriptomic, segmentation, and immunoblot analyses revealed that TMEM97 ablation induces pEMT, marked by the concurrent expression of epithelial E-cadherin and mesenchymal N-cadherin, a process reversed upon TMEM97 re-expression. Furthermore, TMEM97 negatively regulated CTNND2 protein (catenin δ-2), but not the known EMT driver β-catenin, and CTNND2 was found to promote ADAM10, which sustains both E- and N-cadherin protein levels. These findings identify TMEM97 as a novel regulator of RPE-cell pEMT through the CTNND2-ADAM10 axis, highlighting potential new targets for therapeutic intervention in RPE-related pathophysiology.

01 Feb 2025·Neurology Genetics

Novel Phenotypes and Genotypes Identified by Genome Sequencing

Article

Author: Mercimek-Andrews, Saadet ; Wyszynska, Agnieszka ; McNiven, Vanda ; Underwood, Mary ; Desch, Karl ; Ambrose, Anastasia ; Malik, Anna R. ; Tempes, Aleksandra ; Wilson, Diane ; Schulze, Andreas ; Chau, Vann

Background and ObjectivesNeonatal encephalopathy (NE) is characterized by an abnormal level of consciousness with or without seizures in the neonatal period. It affects 1-6/1,000 live term newborns. We applied genome sequencing (GS) in term newborns with NE to investigate the underlying genetic causes.MethodsWe enrolled term newborns according to inclusion/exclusion criteria during their Neonatal Intensive Care admission. We performed GS trio and applied bioinformatic tools. We developed pipelines for manual filters. We applied in silico prediction tools, protein 3D modeling, and functional characterization to assess the pathogenicity of variants.ResultsSeventeen newborns fulfilled inclusion criteria. We identified 12 variants in 10 genes. We classified 4 variants in PPP2R5D, BCOR, CFL2, and SCN2A (previously established disease genes) as pathogenic/likely pathogenic; 7 variants in DST (previously established disease gene), STAB2, CELF4, SORCS2, CTNND2, and ASTN1 (5 candidate genes) as variants of uncertain significance (VUS); and one variant in STAB2 as likely benign. The CELF4 and ASTN1 copy number variants (CNVs) resulted in structural changes in protein 3D models. The functional characterization of SORCS2 VUS revealed disruption of SorCS2 dimer formation and confirmed its pathogenicity. The functional characterization of STAB2 variants updated their characterization from VUS/likely benign to benign. The CTNND2 VUS resulted in a shift in 3D protein structure. We were not able to perform protein 3D modeling and functional characterization of two DST VUS. We are not certain whether CTNND2 and DST variants may be causative of NE in our study.DiscussionThe diagnostic rate of research GS was 41% in our prospective study. We broaden the phenotypic spectrum of PPP2R5D-associated Hogue-Janssens syndrome 1, CFL2-associated nemaline myopathy 7, and BCOR-associated oculo-facio-cardio-dental syndrome to include NE and/or neonatal seizures. We identified 3 candidate genes (SORCS2, CELF4, ASTN1) that may cause NE. We believe that protein 3D modeling is an important tool to assess the pathogenicity of CNVs and may advance the discoveries of novel genetic diseases. However, functional characterization of missense variants is essential for discoveries of novel genetic diseases. It seems that GS can help identify more candidate genes compared with ES.

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CTNND2

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