FBLN5 Gene

HGNC Family	Fibulins (FBLN)
Name	fibulin 5
Description	The protein encoded by this gene is a secreted, extracellular matrix protein containing an Arg-Gly-Asp (RGD) motif and calcium-binding EGF-like domains. It promotes adhesion of endothelial cells through interaction of integrins and the RGD motif. It is prominently expressed in developing arteries but less so in adult vessels. However, its expression is reinduced in balloon-injured vessels and atherosclerotic lesions, notably in intimal vascular smooth muscle cells and endothelial cells. Therefore, the protein encoded by this gene may play a role in vascular development and remodeling. Defects in this gene are a cause of autosomal dominant cutis laxa, autosomal recessive cutis laxa type I (CL type I), and age-related macular degeneration type 3 (ARMD3). [provided by RefSeq, Jul 2008]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n Fibulin‐5 is an extracellular matrix glycoprotein that plays a central role in elastic fiber assembly and tissue integrity. It binds tropoelastin in a calcium‐dependent manner and serves as a scaffold that directs the deposition and cross‐linking of elastin onto a pre‐existing microfibrillar framework (see."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "4"}]}, {"type": "t", "text": " Its molecular structure—with an RGD motif and calcium‐binding EGF‐like (CB‐EGF) domains—permits interactions with cell surface integrins and other matrix proteins such as fibrillin, thereby regulating cell adhesion, spreading, and migration. This integrin‐mediated signaling is crucial in modulating vascular smooth muscle cell behavior and contributes to vascular remodeling and stabilization (see."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "5", "end_ref": "8"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n In addition, loss of fibulin‐5 function—either through genetic deletion in mice or mutation in humans—is associated with disrupted elastic fiber formation leading to elastinopathies such as cutis laxa and pelvic organ prolapse, and it may even contribute to age‐related macular degeneration (see."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}, {"type": "fg_fs", "start_ref": "9", "end_ref": "11"}]}, {"type": "t", "text": " Moreover, altered forms of fibulin‐5, such as age‐dependent truncation that reduces its elastogenic capacity, not only compromise tissue elasticity but also affect matrix stiffness and may diminish inflammatory feedback that drives fibrotic remodeling (see."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "12"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Regulation of fibulin‐5 expression is itself mediated by factors such as transforming growth factor‑β (TGF‑β) and hypoxic signaling through HIF‑1, suggesting that its synthesis and function are adapted during development, in response to injury, and under pathological conditions. Collectively, these studies underscore that fibulin‑5 is indispensable for proper elastogenesis and the maintenance of extracellular matrix integrity in multiple tissues, making it a promising target for therapeutic interventions aimed at treating elastin‐related and fibrotic disorders (see."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}, {"type": "fg_f", "ref": "5"}, {"type": "fg_f", "ref": "8"}]}, {"type": "t", "text": "\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Hiromi Yanagisawa, Elaine C Davis, Barry C Starcher, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Fibulin-5 is an elastin-binding protein essential for elastic fibre development in vivo."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nature (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/415168a"}], "href": "https://doi.org/10.1038/415168a"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "11805834"}], "href": "https://pubmed.ncbi.nlm.nih.gov/11805834"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Maretoshi Hirai, Tetsuya Ohbayashi, Masahito Horiguchi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Fibulin-5/DANCE has an elastogenic organizer activity that is abrogated by proteolytic cleavage in vivo."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Cell Biol (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1083/jcb.200611026"}], "href": "https://doi.org/10.1083/jcb.200611026"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17371835"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17371835"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Maretoshi Hirai, Masahito Horiguchi, Tetsuya Ohbayashi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Latent TGF-beta-binding protein 2 binds to DANCE/fibulin-5 and regulates elastic fiber assembly."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "EMBO J (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/sj.emboj.7601768"}], "href": "https://doi.org/10.1038/sj.emboj.7601768"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17581631"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17581631"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Qian Zheng, Elaine C Davis, James A Richardson, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Molecular analysis of fibulin-5 function during de novo synthesis of elastic fibers."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Cell Biol (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1128/MCB.01330-06"}], "href": "https://doi.org/10.1128/MCB.01330-06"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17130242"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17130242"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "William P Schiemann, Gerard C Blobe, Dario E Kalume, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Context-specific effects of fibulin-5 (DANCE/EVEC) on cell proliferation, motility, and invasion. Fibulin-5 is induced by transforming growth factor-beta and affects protein kinase cascades."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M200148200"}], "href": "https://doi.org/10.1074/jbc.M200148200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12021267"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12021267"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Rawshan Choudhury, Amanda McGovern, Caroline Ridley, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Differential regulation of elastic fiber formation by fibulin-4 and -5."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M109.019364"}], "href": "https://doi.org/10.1074/jbc.M109.019364"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19570982"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19570982"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Jeffrey A Spencer, Shelby L Hacker, Elaine C Davis, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Altered vascular remodeling in fibulin-5-deficient mice reveals a role of fibulin-5 in smooth muscle cell proliferation and migration."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Proc Natl Acad Sci U S A (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1073/pnas.0500058102"}], "href": "https://doi.org/10.1073/pnas.0500058102"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15710889"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15710889"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Anna Guadall, Mar Orriols, Ricardo Rodríguez-Calvo, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Fibulin-5 is up-regulated by hypoxia in endothelial cells through a hypoxia-inducible factor-1 (HIF-1α)-dependent mechanism."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M110.162917"}], "href": "https://doi.org/10.1074/jbc.M110.162917"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21193390"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21193390"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Edwin M Stone, Terry A Braun, Stephen R Russell, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Missense variations in the fibulin 5 gene and age-related macular degeneration."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "N Engl J Med (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1056/NEJMoa040833"}], "href": "https://doi.org/10.1056/NEJMoa040833"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15269314"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15269314"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Dessislava Markova, Yaqun Zou, Franziska Ringpfeil, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genetic heterogeneity of cutis laxa: a heterozygous tandem duplication within the fibulin-5 (FBLN5) gene."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1086/373940"}], "href": "https://doi.org/10.1086/373940"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12618961"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12618961"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Madhusudhan Budatha, Shayzreen Roshanravan, Qian Zheng, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Extracellular matrix proteases contribute to progression of pelvic organ prolapse in mice and humans."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Clin Invest (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1172/JCI45636"}], "href": "https://doi.org/10.1172/JCI45636"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21519142"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21519142"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Manando Nakasaki, Yongsung Hwang, Yun Xie, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The matrix protein Fibulin-5 is at the interface of tissue stiffness and inflammation in fibrosis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Commun (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ncomms9574"}], "href": "https://doi.org/10.1038/ncomms9574"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26469761"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26469761"}]}]}]}
Synonyms	UP50, HNARMD, EVEC, FIBL-5, DANCE, ARCL1A, ARMD3, ADCL2
Proteins	FBLN5_HUMAN
NCBI Gene ID	10516
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

FBLN5 has 7,236 functional associations with biological entities spanning 9 categories (molecular profile, organism, disease, phenotype or trait, chemical, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 118 datasets.

Click the + buttons to view associations for FBLN5 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

FBLN5 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 FBLN5 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 FBLN5 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of FBLN5 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 FBLN5 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 FBLN5 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 FBLN5 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 FBLN5 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 FBLN5 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 FBLN5 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 FBLN5 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Gene Mutation Profiles	cell lines with FBLN5 gene mutations from the CCLE Cell Line Gene Mutation Profiles dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with FBLN5 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 FBLN5 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of FBLN5 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 FBLN5 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 FBLN5 gene from the curated ClinVar Gene-Phenotype Associations dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of FBLN5 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing FBLN5 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing FBLN5 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores 2025	cellular components containing FBLN5 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with FBLN5 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 FBLN5 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 FBLN5 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with FBLN5 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with FBLN5 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with FBLN5 gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with FBLN5 gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by FBLN5 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving FBLN5 gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving FBLN5 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with FBLN5 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 FBLN5 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 FBLN5 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with FBLN5 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 FBLN5 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 FBLN5 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of FBLN5 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 FBLN5 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with FBLN5 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
	GAD High Level Gene-Disease Associations	diseases associated with FBLN5 gene in GWAS and other genetic association datasets from the GAD High Level Gene-Disease Associations dataset.