EMILIN2 Gene

HGNC Family	EMI domain containing
Name	elastin microfibril interfacer 2
Description	Predicted to enable extracellular matrix constituent conferring elasticity. Involved in several processes, including positive regulation of angiogenesis; positive regulation of defense response to bacterium; and positive regulation of platelet aggregation. Located in extracellular region. [provided by Alliance of Genome Resources, Mar 2025]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n EMILIN2 is an extracellular matrix glycoprotein with multifaceted functions that impact cell viability, vascular homeostasis, and tissue differentiation. Multiple studies demonstrate that EMILIN2 can trigger apoptosis through direct binding to death receptors, a process mediated by a 90–amino acid N‐terminal coiled‐coil domain, thereby reducing tumor cell viability and exerting significant antitumoral effects; paradoxically, its proapoptotic action is accompanied by an increase in angiogenesis that, when counteracted with antiangiogenic agents, enhances the overall antineoplastic response."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n In the cardiovascular context, EMILIN2 influences hemostasis by modulating platelet aggregation, clot retraction, and thrombus stability, thereby emerging as a prothrombotic risk factor; these roles have been substantiated by experiments in both global and platelet‐specific EMILIN2–deficient models as well as by its abundant expression in thrombi."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n In addition, genomic duplications leading to the overexpression of EMILIN2 in skin have been implicated in aberrant keratinocyte apoptosis and altered keratinization seen in porokeratosis, suggesting that its proapoptotic activity may disrupt epidermal homeostasis."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n EMILIN2 is also expressed on the plasma membrane of cardiomyocytes, making it a valuable marker for the purification of cardiac cells from human embryonic stem cell–derived populations."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Finally, genetic association studies suggest that EMILIN2 may interact with mechanotransduction pathways in the vascular microenvironment, contributing to angiogenesis and the development of arteriovenous malformations."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Collectively, these findings position EMILIN2 as an important regulator of apoptotic signaling, thrombosis, and tissue differentiation, with potential translational applications in cancer therapy, cardiovascular disease, and dermatologic as well as vascular disorders.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Maurizio Mongiat, Stefano Marastoni, Giovanni Ligresti, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The extracellular matrix glycoprotein elastin microfibril interface located protein 2: a dual role in the tumor microenvironment."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neoplasia (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1593/neo.91930"}], "href": "https://doi.org/10.1593/neo.91930"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20360940"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20360940"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Eva Andreuzzi, Albina Fejza, Alessandra Capuano, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Deregulated expression of Elastin Microfibril Interfacer 2 (EMILIN2) in gastric cancer affects tumor growth and angiogenesis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Matrix Biol Plus (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.mbplus.2020.100029"}], "href": "https://doi.org/10.1016/j.mbplus.2020.100029"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33543026"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33543026"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Menggui Huang, Devaraja Sannaningaiah, Nan Zhao, et al. "}, {"type": "b", "children": [{"type": "t", "text": "EMILIN2 regulates platelet activation, thrombus formation, and clot retraction."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0115284"}], "href": "https://doi.org/10.1371/journal.pone.0115284"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25658937"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25658937"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Qila Sa, Jane L Hoover-Plow "}, {"type": "b", "children": [{"type": "t", "text": "EMILIN2 (Elastin microfibril interface located protein), potential modifier of thrombosis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Thromb J (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/1477-9560-9-9"}], "href": "https://doi.org/10.1186/1477-9560-9-9"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21569335"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21569335"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Corrado Occella, Dario Bleidl, Paolo Nozza, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Identification of an interstitial 18p11.32-p11.31 duplication including the EMILIN2 gene in a family with porokeratosis of Mibelli."}]}, {"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.0061311"}], "href": "https://doi.org/10.1371/journal.pone.0061311"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23593459"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23593459"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Dennis Van Hoof, Wilma Dormeyer, Stefan R Braam, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Identification of cell surface proteins for antibody-based selection of human embryonic stem cell-derived cardiomyocytes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Proteome Res (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1021/pr901138a"}], "href": "https://doi.org/10.1021/pr901138a"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20088484"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20088484"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Tom G W Letteboer, Michael Benzinou, Christopher B Merrick, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genetic variation in the functional ENG allele inherited from the non-affected parent associates with presence of pulmonary arteriovenous malformation in hereditary hemorrhagic telangiectasia 1 (HHT1) and may influence expression of PTPN14."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Front Genet (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3389/fgene.2015.00067"}], "href": "https://doi.org/10.3389/fgene.2015.00067"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25815003"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25815003"}]}]}]}
Synonyms	FOAP-10, EMILIN-2
Proteins	EMIL2_HUMAN
NCBI Gene ID	84034
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

EMILIN2 has 5,432 functional associations with biological entities spanning 8 categories (molecular profile, organism, chemical, functional term, phrase or reference, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 108 datasets.

Click the + buttons to view associations for EMILIN2 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

EMILIN2 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 EMILIN2 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 EMILIN2 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 EMILIN2 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 EMILIN2 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 EMILIN2 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 EMILIN2 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of EMILIN2 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of EMILIN2 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of EMILIN2 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 EMILIN2 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 EMILIN2 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with EMILIN2 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 EMILIN2 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of EMILIN2 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 EMILIN2 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of EMILIN2 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing EMILIN2 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing EMILIN2 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with EMILIN2 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 EMILIN2 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 EMILIN2 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with EMILIN2 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with EMILIN2 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with EMILIN2 gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with EMILIN2 gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of EMILIN2 protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by EMILIN2 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores	diseases associated with EMILIN2 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with EMILIN2 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 EMILIN2 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 EMILIN2 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at EMILIN2 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 EMILIN2 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of EMILIN2 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 EMILIN2 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with EMILIN2 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
	GAD High Level Gene-Disease Associations	diseases associated with EMILIN2 gene in GWAS and other genetic association datasets from the GAD High Level Gene-Disease Associations dataset.
	GDSC Cell Line Gene Expression Profiles	cell lines with high or low expression of EMILIN2 gene relative to other cell lines from the GDSC Cell Line Gene Expression Profiles dataset.
	GeneRIF Biological Term Annotations	biological terms co-occuring with EMILIN2 gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
	GeneSigDB Published Gene Signatures	PubMedIDs of publications reporting gene signatures containing EMILIN2 from the GeneSigDB Published Gene Signatures dataset.