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FLASH GENE

Symbol

FLNB

contributors: mct - updated : 02-06-2021

HGNC name	filamin B, beta
HGNC id	3755

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001164317 47 - 9560 NP_001157789 - 2633 - 2000 11153914 NM_001164318 46 - 9434 NP_001157790 - 2591 - 2000 11153914 NM_001164319 45 - 9395 NP_001157791 - 2578 - 2000 11153914 NM_001457 46 - 9467 NP_001448 - 2602 - 2000 11153914

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol blood / hematopoietic spleen         Cardiovascular heart       highly   vessel       highly Digestive liver         Endocrine pancreas       highly Reproductive male system prostate       Respiratory lung

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone     predominantly

cells

System Cell Pubmed Species Stage Rna symbol   chondrocyte Cardiovascular endothelial

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminal actin-binding domain (ABD)
	C-terminal 24th repeat is essential for filamin dimerization

HOMOLOGY

Homologene

FAMILY

filamin family

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,cytoplasm,cytoskeleton
	intracellular,nucleus

basic FUNCTION	dimeric actin cross-linking phosphoprotein
	playing a role in vertebral segmentation, joint formation and endochondral ossification, and regulate endochondral ossification
	novel function of filamin B as a molecular scaffold in the JNK signaling pathway for type I IFN-induced apoptosis
	regulates the cytoskeletal network by cross-linking actin, linking cell membrane to the cytoskeleton and regulating intracellular signaling pathways responsible for skeletal development
	functions as a scaffold that links between activated RAC1 and a c-Jun NH(2)-terminal kinase (JNK) cascade module for mediating type I IFN signaling
	regulate intracellular signaling pathways associated with skeletal development
	plays a pivotal role in vertebral patterning and skeletal morphogenesis and is a novel gene involved in regulating human stature
	inhibits RUNX2 activity, at least in part, through the SMAD3 pathway
	crucial role for FLNB in endothelial cell migration and in the angiogenic process in adult endothelial cells
	key role in endothelial cell motility, exerted through its function as a scaffolding protein connecting KDR, VAV2, and RAC1 proteins
	is a large dimeric actin-binding protein which crosslinks actin cytoskeleton filaments into a dynamic structure
	might play an important role, not only in skeletal development, but also in regulating tumorigenesis
	may play an important regulatory role in cervical cancer cell apoptosis via regulation of transcription and alternative splicing, which provide insight for the current understanding of the mechanisms of FLNB&
	8209;mediated gene regulation

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

heterodimer FLNA/FLNB

INTERACTION

DNA

RNA

small molecule

protein	FLNA to allow for proper neuronal migration
	interactions with the extracellular matrix and integrin receptors are necessary components for chondrocyte survival and differentiation
	binds SMAD3, which is known to interact with RUNX2
	ASB2 targets the actin-binding proteins filamin A and B for proteasomal degradation
	interactions between FLNB and transmembrane or signalling proteins, mediated at least in part by immunoglobulin domains 19 to 21 are important for both cell spreading and initiation of migration
	interacting with ICAM1 (filamin B is required for the lateral mobility of ICAM1 and for ICAM1-induced transmigration of leukocytes)
	FLNA, FLNB but not Janus kinases are substrates of the ASB2 cullin-ring E3 ubiquitin ligase in hematopoietic cells
	VEGFA and PKC promote degradation-independent protein ubiquitination of FLNB to control intracellular trafficking of HDAC7
	FLNB and FMN1 physically interact, are co-expressed in chondrocytes in the growth plate and share overlapping expression in the cell cytoplasm and nucleus
	FLNB and FMN1 regulate chondrocyte proliferation, and FLNB may regulate FMN1 function at the hypertrophic-to-ossification border, thereby explaining the overall delay in ossification
	ASB2, by driving degradation of filamin A (FLNA) and filamin B (FLNB), is responsible for the difference in FLNA and FLNB abundance in the different spleen Conventional dendritic cells (cDCs) subsets
	FLNA loss leads to diminished expression of Beta1-integrin, whereas FLNB loss promotes integrin expression
	QKI and RBFOX1 coordinately regulated the splicing and function of the actin-binding protein FLNB, which plays a causal role in the regulation of EMT

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

SCTS , LRS1 , ATSG1 , ATSG3

Susceptibility

to variation of stature

Variant & Polymorphism SNP	three SNPs were significantly associated with human stature

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS