FBN2 Gene

Name	fibrillin 2
Description	The protein encoded by this gene is a component of connective tissue microfibrils and may be involved in elastic fiber assembly. Mutations in this gene cause congenital contractural arachnodactyly. [provided by RefSeq, Jul 2008]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n Fibrillin‐2 (FBN2) is an extracellular matrix glycoprotein that, together with fibrillin‐1, forms the backbone of microfibrils that provide structural integrity and modulate signaling in connective tissues. FBN2 participates directly in microfibril assembly by interacting in an N‐to‐C terminal fashion with fibrillin‐1 and exhibits binding properties (for example, to fibronectin) that facilitate the early organization of the extracellular matrix, particularly during aortic development where it plays a distinct role in the initial assembly of the aortic matrix."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " Moreover, biochemical studies demonstrate that FBN2 directly binds to fibrillin‐1 to form high‐affinity homotypic and heterotypic interactions that are critical for constructing stable microfibril networks."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": " Genetic investigations further implicate FBN2 in human developmental disorders; for instance, mutations in FBN2 cause congenital contractural arachnodactyly—a connective tissue disorder characterized by skeletal abnormalities—while rare variants in FBN2 are associated with the severity of adolescent idiopathic scoliosis."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": " In addition, epigenetic silencing of the FBN2 gene has been identified as a consistent biomarker in clear cell renal cell carcinoma, emphasizing its potential role in pathogenesis beyond connective tissue disorders."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n At the molecular level, differences in ligand binding properties between fibrillin isoforms have been noted. For example, the TB domain of FBN2 exhibits markedly lower affinity for heparin compared with that of fibrillin‐1, which may contribute to the distinct biological outcomes associated with mutations in these proteins."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": " Furthermore, regulatory interactions with extracellular proteases such as ADAMTS17 can modulate the incorporation of FBN2 into microfibrils, in part by down‐regulating its mRNA expression and thereby influencing microfibril composition during tissue formation."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "8"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Collectively, these findings underscore that FBN2 not only contributes to the structural assembly and stability of microfibrils during development but also serves as a key modulator of tissue-specific signaling pathways. Dysregulation of FBN2—whether by mutation, altered protein–protein interactions, or epigenetic modifications—can lead to a spectrum of pathologies ranging from connective tissue disorders to cancer.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Laetitia Sabatier, Daliang Chen, Christine Fagotto-Kaufmann, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Fibrillin assembly requires fibronectin."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Biol Cell (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1091/mbc.e08-08-0830"}], "href": "https://doi.org/10.1091/mbc.e08-08-0830"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19037100"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19037100"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Luca Carta, Lygia Pereira, Emilio Arteaga-Solis, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Fibrillins 1 and 2 perform partially overlapping functions during aortic development."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M511599200"}], "href": "https://doi.org/10.1074/jbc.M511599200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16407178"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16407178"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Guoqing Lin, Kerstin Tiedemann, Tillman Vollbrandt, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Homo- and heterotypic fibrillin-1 and -2 interactions constitute the basis for the assembly of microfibrils."}]}, {"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.M210611200"}], "href": "https://doi.org/10.1074/jbc.M210611200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12399449"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12399449"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Prateek A Gupta, Elizabeth A Putnam, Sonya G Carmical, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mutat (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/humu.10017"}], "href": "https://doi.org/10.1002/humu.10017"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "11754102"}], "href": "https://pubmed.ncbi.nlm.nih.gov/11754102"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Jillian G Buchan, David M Alvarado, Gabe E Haller, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddu224"}], "href": "https://doi.org/10.1093/hmg/ddu224"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24833718"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24833718"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Christopher J Ricketts, Victoria K Hill, W Marston Linehan "}, {"type": "b", "children": [{"type": "t", "text": "Tumor-specific hypermethylation of epigenetic biomarkers, including SFRP1, predicts for poorer survival in patients from the TCGA Kidney Renal Clear Cell Carcinoma (KIRC) project."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0085621"}], "href": "https://doi.org/10.1371/journal.pone.0085621"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24454902"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24454902"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Stuart A Cain, Amanda McGovern, Andrew K Baldwin, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Fibrillin-1 mutations causing Weill-Marchesani syndrome and acromicric and geleophysic dysplasias disrupt heparan sulfate interactions."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0048634"}], "href": "https://doi.org/10.1371/journal.pone.0048634"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23133647"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23133647"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Dirk Hubmacher, Michael Schneider, Steven J Berardinelli, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Unusual life cycle and impact on microfibril assembly of ADAMTS17, a secreted metalloprotease mutated in genetic eye disease."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Sci Rep (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/srep41871"}], "href": "https://doi.org/10.1038/srep41871"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28176809"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28176809"}]}]}]}
Synonyms	DA9, EOMD, CCA
Proteins	FBN2_HUMAN
NCBI Gene ID	2201
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

FBN2 has 10,087 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 130 datasets.

Click the + buttons to view associations for FBN2 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

FBN2 Gene

Functional Associations

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

	Dataset	Summary
	Achilles Cell Line Gene Essentiality Profiles	cell lines with fitness changed by FBN2 gene knockdown relative to other cell lines from the Achilles Cell Line Gene Essentiality Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of FBN2 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 FBN2 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 FBN2 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 FBN2 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 FBN2 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 FBN2 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 FBN2 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 FBN2 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 FBN2 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 FBN2 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Gene Mutation Profiles	cell lines with FBN2 gene mutations from the CCLE Cell Line Gene Mutation Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with FBN2 protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with FBN2 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 FBN2 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of FBN2 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 FBN2 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 FBN2 gene from the curated ClinVar Gene-Phenotype Associations dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with FBN2 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of FBN2 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing FBN2 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing FBN2 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing FBN2 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with FBN2 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 FBN2 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with FBN2 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with FBN2 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with FBN2 gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with FBN2 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 FBN2 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving FBN2 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores	diseases associated with FBN2 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with FBN2 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 FBN2 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 FBN2 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 FBN2 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with FBN2 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 FBN2 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 FBN2 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of FBN2 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.