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
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesFLNB, ABP-278, ABP-280, AOI, FH1, FLN-B, FLN1L, LRS1, SCT, TABP, TAP, filamin B
External IDsOMIM: 603381 MGI: 2446089 HomoloGene: 37480 GeneCards: FLNB
Gene location (Human)
Chr.Chromosome 3 (human)[1]
Band3p14.3Start58,008,400 bp[1]
End58,172,251 bp[1]
RNA expression pattern


More reference expression data
Orthologs
SpeciesHumanMouse
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 MbChr 14: 7.82 – 7.95 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

References

  1. GRCh38: Ensembl release 89: ENSG00000136068 - Ensembl, May 2017
  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.
  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.
  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.
  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.
  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.
  9. Takafuta, T; Wu G; Murphy G F; Shapiro S S (Jul 1998). "Human beta-filamin is a new protein that interacts with the cytoplasmic tail of glycoprotein Ibalpha". J. Biol. Chem. UNITED STATES. 273 (28): 17531–8. doi:10.1074/jbc.273.28.17531. ISSN 0021-9258. PMID 9651345.
  10. Sheen, Volney L; Feng Yuanyi; Graham Donna; Takafuta Toshiro; Shapiro Sandor S; Walsh Christopher A (Nov 2002). "Filamin A and Filamin B are co-expressed within neurons during periods of neuronal migration and can physically interact". Hum. Mol. Genet. England. 11 (23): 2845–54. doi:10.1093/hmg/11.23.2845. ISSN 0964-6906. PMID 12393796.
  11. Takafuta, Toshiro; Saeki Mari; Fujimoto Tetsuro-Takahiro; Fujimura Kingo; Shapiro Sandor S (Apr 2003). "A new member of the LIM protein family binds to filamin B and localizes at stress fibers". J. Biol. Chem. United States. 278 (14): 12175–81. doi:10.1074/jbc.M209339200. ISSN 0021-9258. PMID 12496242.
  12. Zhang, W; Han S W; McKeel D W; Goate A; Wu J Y (Feb 1998). "Interaction of presenilins with the filamin family of actin-binding proteins". J. Neurosci. UNITED STATES. 18 (3): 914–22. doi:10.1523/JNEUROSCI.18-03-00914.1998. ISSN 0270-6474. PMC 2042137. PMID 9437013.
  13. van der Flier, Arjan; Kuikman Ingrid; Kramer Duco; Geerts Dirk; Kreft Maaike; Takafuta Toshiro; Shapiro Sandor S; Sonnenberg Arnoud (Jan 2002). "Different splice variants of filamin-B affect myogenesis, subcellular distribution, and determine binding to integrin [beta] subunits". J. Cell Biol. United States. 156 (2): 361–76. doi:10.1083/jcb.200103037. ISSN 0021-9525. PMC 2199218. PMID 11807098.

Further reading

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