NEXN Gene

HGNC Family	Immunoglobulin superfamily domain containing
Name	nexilin (F actin binding protein)
Description	This gene encodes a filamentous actin-binding protein that may function in cell adhesion and migration. Mutations in this gene have been associated with dilated cardiomyopathy, also known as CMD1CC. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2010]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nNexilin, encoded by NEXN, is a muscle‐specific F‐actin binding protein that localizes to key structural elements such as the Z-discs in cardiomyocytes and skeletal muscle cells, where it maintains mechanical stability during contraction. Loss-of-function studies in zebrafish and genetic investigations in patients with cardiomyopathies have established that diminished or mutated nexilin integrity leads to Z-disc disarray, contributing to dilated, hypertrophic, and even lethal fetal forms of cardiomyopathy. These studies underscore the critical role of nexilin in preserving myofibrillar structure and overall cardiac function."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "5"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nIn the vascular context, nexilin not only is expressed in smooth muscle cells—where it localizes to dense bodies and bands—but also plays an essential role in maintaining the contractile phenotype and preventing pathological remodelling. Regulation of NEXN by noncoding RNAs such as NEXN-AS1 has been shown to upregulate its expression, thereby attenuating inflammatory signaling and reducing atherosclerotic progression. Complementary genetic and functional studies further link NEXN to vascular diseases including coronary artery disease, illustrating its protective effects against vascular smooth muscle cell phenotypic modulation."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "6", "end_ref": "9"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nAdditional investigations have expanded the functional repertoire of nexilin. Studies describing a related protein termed NELIN highlight its role in promoting cell migration and adhesion by interacting with F-actin. Moreover, nexilin contributes to actin-based motile structures that are exploited by bacterial pathogens during infections, emphasizing its broader involvement in cytoskeletal dynamics. Ongoing clinical evaluations continue to delineate the variable expressivity and inheritance patterns of NEXN mutations, thereby reinforcing the gene’s importance in both cardiac pathology and vascular homeostasis."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "10", "end_ref": "13"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "David Hassel, Tillman Dahme, Jeanette Erdmann, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Nexilin mutations destabilize cardiac Z-disks and lead to dilated cardiomyopathy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Med (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/nm.2037"}], "href": "https://doi.org/10.1038/nm.2037"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19881492"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19881492"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Hu Wang, Zhaohui Li, Jizheng Wang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutations in NEXN, a Z-disc gene, are associated with hypertrophic cardiomyopathy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ajhg.2010.10.002"}], "href": "https://doi.org/10.1016/j.ajhg.2010.10.002"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20970104"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20970104"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Fan Yang, Lei Zhou, Qiguang Wang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "NEXN inhibits GATA4 and leads to atrial septal defects in mice and humans."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cardiovasc Res (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/cvr/cvu134"}], "href": "https://doi.org/10.1093/cvr/cvu134"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24866383"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24866383"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Luc Bruyndonckx, Judith L Vogelzang, Marianna Bugiani, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Childhood onset nexilin dilated cardiomyopathy: A heterozygous and a homozygous case."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Med Genet A (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ajmg.a.62231"}], "href": "https://doi.org/10.1002/ajmg.a.62231"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33949776"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33949776"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Josefin Johansson, Carina Frykholm, Katharina Ericson, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Loss of Nexilin function leads to a recessive lethal fetal cardiomyopathy characterized by cardiomegaly and endocardial fibroelastosis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Med Genet A (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ajmg.a.62685"}], "href": "https://doi.org/10.1002/ajmg.a.62685"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "35166435"}], "href": "https://pubmed.ncbi.nlm.nih.gov/35166435"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Yan-Wei Hu, Feng-Xia Guo, Yuan-Jun Xu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Long noncoding RNA NEXN-AS1 mitigates atherosclerosis by regulating the actin-binding protein NEXN."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Clin Invest (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1172/JCI98230"}], "href": "https://doi.org/10.1172/JCI98230"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30589415"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30589415"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Chong Wu, Han Yan, Jingzhi Sun, et al. "}, {"type": "b", "children": [{"type": "t", "text": "NEXN is a novel susceptibility gene for coronary artery disease in Han Chinese."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0082135"}], "href": "https://doi.org/10.1371/journal.pone.0082135"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24349201"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24349201"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Baoyi Zhu, Catarina Rippe, Johan Holmberg, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Nexilin/NEXN controls actin polymerization in smooth muscle and is regulated by myocardin family coactivators and YAP."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Sci Rep (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41598-018-31328-2"}], "href": "https://doi.org/10.1038/s41598-018-31328-2"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30158653"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30158653"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Changan Pei, Shiyong Qin, Minghai Wang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Regulatory mechanism of human vascular smooth muscle cell phenotypic transformation induced by NELIN."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Med Rep (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3892/mmr.2015.4365"}], "href": "https://doi.org/10.3892/mmr.2015.4365"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26458985"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26458985"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Wei Wang, Weili Zhang, Yu Han, et al. "}, {"type": "b", "children": [{"type": "t", "text": "NELIN, a new F-actin associated protein, stimulates HeLa cell migration and adhesion."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochem Biophys Res Commun (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.bbrc.2005.03.082"}], "href": "https://doi.org/10.1016/j.bbrc.2005.03.082"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15823560"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15823560"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Jeppe D Andersen, Stine B Jacobsen, Linea C Trudsø, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Whole genome and transcriptome sequencing of post-mortem cardiac tissues from sudden cardiac death victims identifies a gene regulatory variant in NEXN."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Int J Legal Med (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00414-019-02127-9"}], "href": "https://doi.org/10.1007/s00414-019-02127-9"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31392414"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31392414"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "H T Law, Matteo Bonazzi, Jeremy Jackson, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Nexilin is a dynamic component of Listeria monocytogenes and enteropathogenic Escherichia coli actin-rich structures."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Microbiol (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/j.1462-5822.2012.01781.x"}], "href": "https://doi.org/10.1111/j.1462-5822.2012.01781.x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22381134"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22381134"}]}, {"type": "r", "ref": 13, "children": [{"type": "t", "text": "Alexis Hermida, Flavie Ader, Gilles Millat, et al. "}, {"type": "b", "children": [{"type": "t", "text": "NEXN Gene in Cardiomyopathies and Sudden Cardiac Deaths: Prevalence, Phenotypic Expression, and Prognosis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Circ Genom Precis Med (2024)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1161/CIRCGEN.123.004285"}], "href": "https://doi.org/10.1161/CIRCGEN.123.004285"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "38059363"}], "href": "https://pubmed.ncbi.nlm.nih.gov/38059363"}]}]}]}
Synonyms	CMH20, NELIN
Proteins	NEXN_HUMAN
NCBI Gene ID	91624
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

NEXN has 6,093 functional associations with biological entities spanning 9 categories (molecular profile, organism, disease, phenotype or trait, functional term, phrase or reference, chemical, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 115 datasets.

Click the + buttons to view associations for NEXN from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

NEXN Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of NEXN gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of NEXN gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of NEXN gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of NEXN gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of NEXN gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of NEXN gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of NEXN gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of NEXN gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of NEXN gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with NEXN protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with NEXN gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of NEXN gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of NEXN gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of NEXN gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations	phenotypes associated with NEXN gene from the curated ClinVar Gene-Phenotype Associations dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with NEXN gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CM4AI KOLF21J CRISPRi Gene Perturbation Atlas	gene perturbations changing expression of NEXN gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset.
	CM4AI U2OS Cell Map Protein Localization Assemblies	assemblies containing NEXN protein from integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing NEXN protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing NEXN protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with NEXN protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with NEXN protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of NEXN gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with NEXN gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with NEXN gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with NEXN gene/protein from the curated CTD Gene-Disease Associations dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by NEXN gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving NEXN gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving NEXN gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with NEXN gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with NEXN gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with NEXN gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with NEXN gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with NEXN gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at NEXN gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of NEXN gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of NEXN gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing NEXN from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with NEXN gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
	GeneRIF Biological Term Annotations	biological terms co-occuring with NEXN gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.