FLNB Gene

Name	filamin B, beta
Description	This gene encodes a member of the filamin family. The encoded protein interacts with glycoprotein Ib alpha as part of the process to repair vascular injuries. The platelet glycoprotein Ib complex includes glycoprotein Ib alpha, and it binds the actin cytoskeleton. Mutations in this gene have been found in several conditions: atelosteogenesis type 1 and type 3; boomerang dysplasia; autosomal dominant Larsen syndrome; and spondylocarpotarsal synostosis syndrome. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Nov 2009]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n Filamin B (FLNB) is an actin‐crosslinking protein that plays fundamental roles in organizing the cytoskeleton, modulating cell adhesion and migration, and ensuring proper skeletal development. In several human studies, mutations in FLNB have been linked to a spectrum of skeletal dysplasias – ranging from autosomal recessive spondylocarpotarsal syndrome to autosomal dominant Larsen syndrome and boomerang dysplasia – thereby underlining its critical involvement in vertebral segmentation, joint formation, and endochondral ossification."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " Alternative splicing events of FLNB generate variants with altered binding affinities for key partners such as integrin β subunits, which in turn modulate actin organization and influence processes such as myogenic differentiation."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": " In vivo, studies in Flnb‐deficient mice reveal that loss of FLNB function disrupts actin filament organization and diminishes cell migration capacity; these defects are accompanied by significant skeletal malformations that recapitulate features of human FLNB‐related disorders."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": " Moreover, in human patients, distinct missense and in‐frame deletion mutations in FLNB have been identified as the molecular basis of Larsen syndrome, with the mutation site often correlating with the clinical presentation"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": ", and additional mutations have been associated with myofibrillar myopathies."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": " Recent work further suggests that disruption of FLNB, either through mutations or by interfering with its interaction with partners involved in extracellular matrix signaling (such as phosphorylated β1-integrin), contributes to the pathological phenotype observed in skeletal dysplasias."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": " Finally, aberrant posttranscriptional modifications of FLNB messenger RNA, such as hyper-editing events, have been implicated in disease pathogenesis (for instance, in hepatocellular carcinoma), highlighting an additional regulatory layer that may affect its function."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": "\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Deborah Krakow, Stephen P Robertson, Lily M King, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng1319"}], "href": "https://doi.org/10.1038/ng1319"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "14991055"}], "href": "https://pubmed.ncbi.nlm.nih.gov/14991055"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Arjan van der Flier, Ingrid Kuikman, Duco Kramer, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Different splice variants of filamin-B affect myogenesis, subcellular distribution, and determine binding to integrin [beta] subunits."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Cell Biol (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1083/jcb.200103037"}], "href": "https://doi.org/10.1083/jcb.200103037"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "11807098"}], "href": "https://pubmed.ncbi.nlm.nih.gov/11807098"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Xianghua Zhou, Fei Tian, Johan Sandzén, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Filamin B deficiency in mice results in skeletal malformations and impaired microvascular development."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Proc Natl Acad Sci U S A (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1073/pnas.0608360104"}], "href": "https://doi.org/10.1073/pnas.0608360104"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17360453"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17360453"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Louise S Bicknell, Claire Farrington-Rock, Yousef Shafeghati, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A molecular and clinical study of Larsen syndrome caused by mutations in FLNB."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Med Genet (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1136/jmg.2006.043687"}], "href": "https://doi.org/10.1136/jmg.2006.043687"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16801345"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16801345"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "L S Bicknell, T Morgan, L Bonafé, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutations in FLNB cause boomerang dysplasia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Med Genet (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1136/jmg.2004.029967"}], "href": "https://doi.org/10.1136/jmg.2004.029967"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15994868"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15994868"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Jie Lu, Gewei Lian, Robert Lenkinski, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Filamin B mutations cause chondrocyte defects in skeletal development."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddm114"}], "href": "https://doi.org/10.1093/hmg/ddm114"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17510210"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17510210"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Jason Qian, Qiao Wang, Marei Dose, et al. "}, {"type": "b", "children": [{"type": "t", "text": "B cell super-enhancers and regulatory clusters recruit AID tumorigenic activity."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.cell.2014.11.013"}], "href": "https://doi.org/10.1016/j.cell.2014.11.013"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25483777"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25483777"}]}]}]}
Synonyms	FLN-B, TAP, FH1, ABP-278, LRS1, TABP, FLN1L, AOI, SCT
Proteins	FLNB_HUMAN
NCBI Gene ID	2317
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

FLNB has 21,097 functional associations with biological entities spanning 9 categories (molecular profile, organism, chemical, disease, phenotype or trait, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 147 datasets.

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

If available, associations are ranked by standardized value

Harmonizome 3.0

FLNB 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 FLNB gene knockdown relative to other cell lines from the Achilles Cell Line Gene Essentiality Profiles dataset.
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of FLNB 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 FLNB 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 FLNB 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 FLNB 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 FLNB 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 FLNB 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 FLNB 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 FLNB 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 FLNB gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of FLNB gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of FLNB 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 FLNB gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Gene Mutation Profiles	cell lines with FLNB gene mutations from the CCLE Cell Line Gene Mutation Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with FLNB protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with FLNB 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 FLNB gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of FLNB 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 FLNB 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 FLNB gene from the curated ClinVar Gene-Phenotype Associations dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with FLNB gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CM4AI KOLF21J CRISPRi Gene Perturbation Atlas	gene perturbations changing expression of FLNB gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of FLNB gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing FLNB protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing FLNB protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing FLNB protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores 2025	cellular components containing FLNB 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 FLNB 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 FLNB 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 FLNB gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with FLNB gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with FLNB gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with FLNB gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with FLNB 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 FLNB 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 FLNB gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving FLNB gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving FLNB gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores	diseases associated with FLNB 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 FLNB gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.