FLNB

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)
End	58,172,251 bp
Gene location (Mouse)
Chr.	Chromosome 14 (mouse)
End	14,651,816 bp
RNA expression pattern
	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
	; ;
	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; neuronal cell body; 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
	2317
	286940
	ENSG00000136068
	ENSMUSG00000025278
	O75369
	Q80X90
	NM_001164317; NM_001164318; NM_001164319; NM_001457
	NM_001081427; NM_134080
	NP_001157789; NP_001157790; NP_001157791; NP_001448
	NP_001074896; NP_598841
	Wikidata
View/Edit Human	View/Edit Mouse

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 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]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000136068 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000025278 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Lu J, Lian G, Lenkinski R, De Grand A, Vaid RR, Bryce T, Stasenko M, Boskey A, Walsh C, Sheen V (2007). "Filamin B mutations cause chondrocyte defects in skeletal development". Hum Mol Genet. 16 (14): 1661–1675. doi:10.1093/hmg/ddm114. PMID 17510210.
^ Bicknell LS, Morgan T, Bonife L, Wessels MW, Bialer MG, Willems PJ, Cohen DH, Krakow D, Robertson SP (2005). "Mutations in FLNB cause boomerang dysplasia". Am J Med Genet. 42 (7): e43. doi:10.1136/jmg.2004.029967. PMC 1736093. PMID 15994868.
^ Greally MT; Jewett T; Smith WL Jr.; Penick GD; Williamson RA (1993). "Lethal bone dysplasia in a fetus with manifestations of Atelosteogenesis type I and Boomerang dysplasia". Am J Med Genet. 47 (4): 1086–1091. doi:10.1002/ajmg.1320470731. PMID 8291529.
^ Nishimura G, Horiuchi T, Kim OH, Sasamoto Y (1997). "Atypical skeletal changes in otopalatodigital syndrome type II: phenotypic overlap among otopalatodigital syndrome type II, boomerang dysplasia, atelosteogenesis type I and type III, and lethal male phenotype of Melnick-Needles syndrome". Am J Med Genet. 73 (2): 132–138. doi:10.1002/(SICI)1096-8628(19971212)73:2<132::AID-AJMG6>3.0.CO;2-W. PMID 9409862.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000136068 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000025278 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[filb-5] Lu J, Lian G, Lenkinski R, De Grand A, Vaid RR, Bryce T, Stasenko M, Boskey A, Walsh C, Sheen V (2007). "Filamin B mutations cause chondrocyte defects in skeletal development". Hum Mol Genet. 16 (14): 1661–1675. doi:10.1093/hmg/ddm114. PMID 17510210.

[mutbd-6] Bicknell LS, Morgan T, Bonife L, Wessels MW, Bialer MG, Willems PJ, Cohen DH, Krakow D, Robertson SP (2005). "Mutations in FLNB cause boomerang dysplasia". Am J Med Genet. 42 (7): e43. doi:10.1136/jmg.2004.029967. PMC 1736093. PMID 15994868.

[lbdys-7] Greally MT; Jewett T; Smith WL Jr.; Penick GD; Williamson RA (1993). "Lethal bone dysplasia in a fetus with manifestations of Atelosteogenesis type I and Boomerang dysplasia". Am J Med Genet. 47 (4): 1086–1091. doi:10.1002/ajmg.1320470731. PMID 8291529.

[bddom-8] Nishimura G, Horiuchi T, Kim OH, Sasamoto Y (1997). "Atypical skeletal changes in otopalatodigital syndrome type II: phenotypic overlap among otopalatodigital syndrome type II, boomerang dysplasia, atelosteogenesis type I and type III, and lethal male phenotype of Melnick-Needles syndrome". Am J Med Genet. 73 (2): 132–138. doi:10.1002/(SICI)1096-8628(19971212)73:2<132::AID-AJMG6>3.0.CO;2-W. PMID 9409862.

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