C2CD4A

Last update 23 Jan 2025

Basic Info

Synonyms

C2 calcium dependent domain containing 4A, C2 calcium-dependent domain-containing protein 4A, C2CD4A

+ [4]

Introduction

May be involved in inflammatory process. May regulate cell architecture and adhesion.

100 Clinical Results associated with C2CD4A

100 Translational Medicine associated with C2CD4A

0 Patents (Medical) associated with C2CD4A

Literatures (Medical) associated with C2CD4A

15 Oct 2024·The Journal of Clinical Endocrinology & Metabolism

Genetic Underpinnings of Fasting and Oral Glucose-stimulated Based Insulin Sensitivity Indices

Article

Author: Madsen, Anne L ; Suleman, Sufyan ; Grarup, Niels ; Loos, Ruth J F ; Hansen, Torben ; Ängquist, Lars H ; Schubert, Mikkel ; Linneberg, Allan

AbstractContextInsulin sensitivity (IS) is an important factor in type 2 diabetes (T2D) and can be estimated by many different indices.ObjectiveWe aimed to compare the genetic components underlying IS indices obtained from fasting and oral glucose-stimulated plasma glucose and serum insulin levels.MethodsWe computed 21 IS indices, classified as fasting, OGTT0,120, and OGTT0,30,120 indices, using fasting and oral glucose tolerance test (OGTT) data in 2 cohorts. We used data from a family cohort (n = 313) to estimate the heritability and the genetic and phenotypic correlations of IS indices. The population cohort, Inter99 (n = 5343), was used to test for associations between IS indices and 426 genetic variants known to be associated with T2D.ResultsHeritability estimates of IS indices ranged between 19% and 38%. Fasting and OGTT0,30,120 indices had high genetic (ρG) and phenotypic (ρP) pairwise correlations (ρG and ρP: 0.88 to 1) The OGTT0,120 indices displayed a wide range of pairwise correlations (ρG: 0.17-1.00 and ρP: 0.13-0.97). We identified statistically significant associations between IS indices and established T2D-associated variants. The PPARG rs11709077 variant was associated only with fasting indices and PIK3R rs4976033 only with OGTT0,30,120 indices. The variants in FAM63A/MINDY1, GCK, C2CD4A/B, and FTO loci were associated only with OGTT0,120 indices.ConclusionEven though the IS indices mostly share a common genetic background, notable differences emerged between OGTT0,120 indices. The fasting and OGTT-based indices have distinct associations with T2D risk variants. This work provides a basis for future large-scale genetic investigations into the differences between IS indices.

01 Apr 2024·Heliyon

The prognostic model and immune landscape based on cancer-associated fibroblast features for patients with locally advanced rectal cancer

Article

Author: Wu, Yong ; Zhuang, Jinfu ; Liu, Xing ; Zhang, Yiyi ; Lin, Yijuan ; Guan, Guoxian ; Li, Shoufeng ; Wang, Ye ; Cai, Huajun

BackgroundThis study aimed to construct a nomogram based on CAF features to predict the cancer-specific survival (CSS) rates of locally advanced rectal cancer (LARC) patients.MethodsThe EPIC algorithm was employed to calculate the proportion of CAFs. based on the differentially expressed genes between the high and low CAF proportion subgroups, prognostic genes were identified via LASSO and Cox regression analyses. They were then used to construct a prognostic risk signature. Moreover, the GSE39582 and GGSE38832 datasets were used for external validation. Lastly, the level of immune infiltration was evaluated using ssGSEA, ESTIMATE, CIBERSORTx, and TIMER.ResultsA higher level of CAF infiltration was associated with a worse prognosis. Additionally, the number of metastasized lymph nodes and distant metastases, as well as the level of immune infiltration were higher in the high CAF proportion subgroup. Five prognostic genes (SMOC2, TUBAL3, C2CD4A, MAP1B, BMP8A) were identified and subsequently incorporated into the prognostic risk signature to predict the 1-, 3-, and 5-year CSS rates in the training and validation sets. Differences in survival rates were also determined in the external validation cohort. Furthermore, independent prognostic factors, including TNM stage and risk score, were combined to established a nomogram. Notably, our results revealed that the proportions of macrophages and neutrophils and the levels of cytokines secreted by M2 macrophages were higher in the high-risk subgroup. Finally, the prognostic genes were significantly associated with the level of immune cell infiltration.ConclusionHerein, a nomogram based on CAF features was developed to predict the CSS rate of LARC patients. The risk model was capable of reflecting differences in the level of immune cell infiltration.

01 Jan 2024·Physiological Reviews

New insights into the physiology and pathophysiology of the atypical sodium leak channel NALCN

Review

Author: Gil-Nagel, Antonio ; Lory, Philippe ; Parra-Diaz, Paloma ; Guérineau, Nathalie C ; Monteil, Arnaud ; Senatore, Adriano

Cell excitability and its modulation by hormones and neurotransmitters involve the concerted action of a large repertoire of membrane proteins, especially ion channels. Unique complements of coexpressed ion channels are exquisitely balanced against each other in different excitable cell types, establishing distinct electrical properties that are tailored for diverse physiological contributions, and dysfunction of any component may induce a disease state. A crucial parameter controlling cell excitability is the resting membrane potential (RMP) set by extra- and intracellular concentrations of ions, mainly Na+, K+, and Cl−, and their passive permeation across the cell membrane through leak ion channels. Indeed, dysregulation of RMP causes significant effects on cellular excitability. This review describes the molecular and physiological properties of the Na+ leak channel NALCN, which associates with its accessory subunits UNC-79, UNC-80, and NLF-1/FAM155 to conduct depolarizing background Na+ currents in various excitable cell types, especially neurons. Studies of animal models clearly demonstrate that NALCN contributes to fundamental physiological processes in the nervous system including the control of respiratory rhythm, circadian rhythm, sleep, and locomotor behavior. Furthermore, dysfunction of NALCN and its subunits is associated with severe pathological states in humans. The critical involvement of NALCN in physiology is now well established, but its study has been hampered by the lack of specific drugs that can block or agonize NALCN currents in vitro and in vivo. Molecular tools and animal models are now available to accelerate our understanding of how NALCN contributes to key physiological functions and the development of novel therapies for NALCN channelopathies.

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C2CD4A

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