CALM2

Last update 08 May 2025

Basic Info

Synonyms

CALM2, calmodulin 2, Calmodulin-2

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Introduction

Calmodulin acts as part of a calcium signal transduction pathway by mediating the control of a large number of enzymes, ion channels, aquaporins and other proteins through calcium-binding (PubMed:16760425, PubMed:26969752, PubMed:27165696). Calcium-binding is required for the activation of calmodulin (PubMed:16760425, PubMed:26969752, PubMed:27165696, PubMed:35568036). Among the enzymes to be stimulated by the calmodulin-calcium complex are a number of protein kinases, such as myosin light-chain kinases and calmodulin-dependent protein kinase type II (CaMK2), and phosphatases (PubMed:16760425, PubMed:26969752, PubMed:27165696, PubMed:35568036). Together with CCP110 and centrin, is involved in a genetic pathway that regulates the centrosome cycle and progression through cytokinesis (PubMed:16760425). Mediates calcium-dependent inactivation of CACNA1C (PubMed:26969752). Positively regulates calcium-activated potassium channel activity of KCNN2 (PubMed:27165696). (Microbial infection) Required for C.violaceum CopC and S.flexneri OspC3 arginine ADP-riboxanase activity.

100 Clinical Results associated with CALM2

100 Translational Medicine associated with CALM2

0 Patents (Medical) associated with CALM2

178

Literatures (Medical) associated with CALM2

31 Dec 2025·Annals of Human Biology

Unravelling the molecular mechanisms and immune landscape of vitiligo: a comprehensive bioinformatics study on melanogenesis-related genes

Article

Author: Ma, Binxi ; Wang, Xiao

BACKGROUNDVitiligo is an autoimmune disorder marked by melanocyte destruction and skin depigmentation.AIMTo explore the molecular mechanisms underlying melanogenesis and their link to vitiligo.SUBJECTS AND METHODSWe analysed three vitiligo-related datasets, correcting for batch effects with ComBat. Key melanogenesis genes were pinpointed using LASSO and logistic regression, and a nomogram was developed. The immune microenvironment was evaluated by ssGSEA, and correlations between gene expression, melanogenesis pathways, and immune cell infiltration were examined.RESULTSWe identified 2,405 DEGs, with 960 up-regulated and 1,445 down-regulated genes in vitiligo samples. GSVA indicated significant disturbances in melanogenesis pathways. ssGSEA revealed reduced activity in REACTOME_MELANIN_BIOSYNTHESIS and KEGG_MELANOGENESIS pathways. Three key diagnostic genes (CALM2, KIT, OCA2) were found and used to build a highly accurate predictive nomogram. Immune cell analysis showed increased T helper and Th2 cells in vitiligo, correlating with both diagnostic genes and melanogenic pathways.CONCLUSIONThis study identifies crucial melanogenesis-related genes and provides a predictive model for vitiligo risk. It underscores the relationship between impaired melanogenesis and immune cell infiltration, suggesting potential therapeutic targets.

28 Mar 2025·European Heart Journal - Case Reports

Beyond the blueprint: decoding calmodulinopathy—a case report showcasing the utility of multifaceted treatments

Article

Author: Kakarla, Saikiran ; Sreelekshmi, Madhusoodanan Pillai ; Shabeer, Machilakath Panangandi ; Aswathy, Madhusoodanan Jalaja ; Namboodiri, Narayanan

AbstractBackgroundCalmodulinopathies are adrenergically-induced life-threatening arrhythmias. Available therapies are disquietingly insufficient, especially for CALM-LQTS (calmodulinopathy-associated long QT syndrome). This case report illustrates a novel mutation in CALM-LQTS and its response to multimodality treatment strategies.Case summaryThe proband was the first child born to a nonconsanguineous Indian couple, a 26-year-old woman and a 30-year-old man. The child was delivered prematurely, and at birth, a functional 2:1 atrioventricular block was noted with sinus bradycardia with a corrected QT by Bazzet’s of 716 ms. Clinical exome sequencing of the proband revealed a novel missense variant c.287A>G in exon 5 of the CALM3 gene in a heterozygous state, resulting in an Asp96Gly change. The OMIM phenotype associated with it is long QT syndrome 16 (#618782). Despite receiving a dose of 4.5 mg/kg/day of propranolol, the child still had a persistent long QTc. Mexiletine was started at the trial dose of 1.5 mg/kg/day, and after 1 h, QTc was reduced to 507 ms from 560 ms. After a left-cardiac sympathectomy, he remains asymptomatic after 1.3 years of follow-up with a QTc value of 490 ms.DiscussionCALM3 pathogenic variants are gain-of-function variants mainly affecting amino acids residing in the Ca2-binding loops. Earlier data suggested the role of the Nav1.5 channel in leading to persistent Na+ leaks resulting in LQTS. However, they only focused on LQTS-CALM1 and CALM2 models and did not include CALM3-related genes. Despite similarities, the precise impact of CaM on Nav1.5 channels still needs to be defined as CaV1.2. The exact role of mexiletine is not fully understood.

01 Jan 2025·International Journal of Legal Medicine

Interpretation of molecular autopsy findings in 45 sudden unexplained death cases: from coding region to untranslated region

Article

Author: Du, Jianghua ; Haas, Cordula ; Wang, Shouyu ; Neubauer, Jacqueline ; Shen, Qi

AbstractSudden unexplained death (SUD) can affect apparently healthy adolescents and young adults with no prior clinical symptoms and no clear diagnostic findings at autopsy. Although primary cardiac arrhythmias have been shown to be the direct cause of death in the majority of SUD cases, the genetic predisposition contributing to SUD remains incompletely understood. Currently, molecular autopsy is considered to be an effective diagnostic tool in the multidisciplinary management of SUD, but the analysis focuses mainly on the coding region and the significance of many identified variants remains unclear. Recent studies have demonstrated the strong association between human disease and genetic variants in untranslated regions (UTRs), highlighting the potential role of UTR variants in the genetic predisposition to SUD. In this study, we searched for UTR variants with likely functional effects in the exome data of 45 SUD cases. Among 244 genes associated with cardiac diseases, three candidate variants with high confidence of pathogenicity were identified in the UTRs of SCO2, CALM2 and TBX3 based on a rigorous filtering strategy. A functional assay further validated the effect of these candidate variants on gene transcriptional activity. In addition, the constraint metrics, intolerance indexes, and dosage sensitivity scores of genes affected by the candidate variants were considered when estimating the consequence of aberrant gene expression. In conclusion, our study presents a practical strategy for UTR variant prioritization and functional annotation, which could improve the interpretation of molecular autopsy findings in SUD cohorts.

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