FLNB

Filamin B, beta (FLNB), also known as Filamin B, beta (truncated actin binding protein 278 homolog), is a cytoplasmic protein which in humans is encoded by the FLNB gene.

FLNB
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2DI8, 2DI9, 2DIA, 2DIB, 2DIC, 2DJ4, 2DLG, 2DMB, 2DMC, 2E9I, 2E9J, 2EE6, 2EE9, 2EEA, 2EEB, 2EEC, 2EED, 2WA5, 2WA6, 2WA7, 3FER, 4B7L
Identifiers
Aliases	FLNB, ABP-278, ABP-280, AOI, FH1, FLN-B, FLN1L, LRS1, SCT, TABP, TAP, filamin B
External IDs	OMIM: 603381; MGI: 2446089; HomoloGene: 37480; GeneCards: FLNB; OMA:FLNB - orthologs
Gene location (Human) Chr. Chromosome 3 (human)[1] Band 3p14.3 Start 58,008,398 bp[1] End 58,172,251 bp[1]
Gene location (Mouse) Chr. Chromosome 14 (mouse)[2] Band 14|14 A1 Start 14,518,185 bp[2] End 14,651,816 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in mucosa of transverse colon tibial nerve body of uterus right uterine tube sural nerve prostate muscle layer of sigmoid colon mucosa of ileum left lobe of thyroid gland left uterine tube Top expressed in epithelium of stomach phalanx of foot left colon mucous cell of stomach pyloric antrum secondary oocyte corneal stroma lip submandibular gland uterus More reference expression data BioGPS More reference expression data
Gene ontology Molecular function identical protein binding protein binding actin binding RNA binding cadherin binding Cellular component integral component of membrane cytoskeleton brush border actin cytoskeleton extracellular exosome stress fiber plasma membrane Z discdkac cytoplasm cell cortex focal adhesion extracellular matrix cytosol nucleus neuron projection soma phagocytic vesicle Biological process muscle organ development skeletal muscle tissue development actin cytoskeleton organization epithelial cell morphogenesis multicellular organism development cell differentiation signal transduction keratinocyte development cellular response to interferon-gamma Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2317 286940 Ensembl ENSG00000136068 ENSMUSG00000025278 UniProt O75369 Q80X90 RefSeq (mRNA) NM_001164317 NM_001164318 NM_001164319 NM_001457 NM_001081427 NM_134080 RefSeq (protein) NP_001157789 NP_001157790 NP_001157791 NP_001448 NP_001074896 NP_598841 Location (UCSC) Chr 3: 58.01 – 58.17 Mb Chr 14: 14.52 – 14.65 Mb PubMed search [3] [4]
Wikidata
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FLNB regulates intracellular communication and signalling by cross-linking the protein actin to allow direct communication between the cell membrane and cytoskeletal network, to control and guide proper skeletal development.^[5]

Mutations in the FLNB gene are involved in several lethal bone dysplasias, including boomerang dysplasia and atelosteogenesis type I.^[6][7][8]

Interactions

FLNB has been shown to interact with GP1BA,^[9] Filamin,^[10] FBLIM1,^[11] PSEN1,^[12] CD29^[13] and PSEN2.^[12]

See also

• Larsen syndrome