Free for academic non-profit institutions. Other users need a Commercial license

Aliases for FLNB Gene

Aliases for FLNB Gene

  • Filamin B, Beta 2 3
  • Larsen Syndrome 1 (Autosomal Dominant) 2 3
  • Actin-Binding-Like Protein 3 4
  • Actin Binding Protein 278 2 3
  • Thyroid Autoantigen 3 4
  • Filamin Homolog 1 3 4
  • ABP-280 Homolog 3 4
  • Beta-Filamin 3 4
  • Filamin-3 3 4
  • ABP-278 3 4
  • FLN1L 3 4
  • FLN-B 3 4
  • LRS1 3 6
  • TABP 3 4
  • FH1 3 4
  • AOI 3 6
  • SCT 3 6
  • TAP 3 4
  • Filamin B, Beta (Actin Binding Protein 278) 2
  • Truncated Actin-Binding Protein 4
  • Truncated ABP 4
  • Filamin-B 3
  • ABP-280 3
  • FLN3 4

External Ids for FLNB Gene

Previous HGNC Symbols for FLNB Gene

  • FLN1L
  • LRS1

Previous GeneCards Identifiers for FLNB Gene

  • GC03M056977
  • GC03M057448
  • GC03P057848
  • GC03P057951

Summaries for FLNB Gene

Entrez Gene Summary for FLNB Gene

  • 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]

GeneCards Summary for FLNB Gene

FLNB (Filamin B, Beta) is a Protein Coding gene. Diseases associated with FLNB include spondylocarpotarsal synostosis syndrome and larsen syndrome. Among its related pathways are MAPK signaling pathway and Signaling by GPCR. GO annotations related to this gene include identical protein binding and actin binding. An important paralog of this gene is FLNA.

UniProtKB/Swiss-Prot for FLNB Gene

  • Connects cell membrane constituents to the actin cytoskeleton. May promote orthogonal branching of actin filaments and links actin filaments to membrane glycoproteins. Anchors various transmembrane proteins to the actin cytoskeleton. Interaction with FLNA may allow neuroblast migration from the ventricular zone into the cortical plate. Various interactions and localizations of isoforms affect myotube morphology and myogenesis. Isoform 6 accelerates muscle differentiation in vitro

Gene Wiki entry for FLNB Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FLNB Gene

Genomics for FLNB Gene

Regulatory Elements for FLNB Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for FLNB Gene

Start:
58,008,400 bp from pter
End:
58,172,255 bp from pter
Size:
163,856 bases
Orientation:
Plus strand

Genomic View for FLNB Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for FLNB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FLNB Gene

Proteins for FLNB Gene

  • Protein details for FLNB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75369-FLNB_HUMAN
    Recommended name:
    Filamin-B
    Protein Accession:
    O75369
    Secondary Accessions:
    • B2ZZ83
    • B2ZZ84
    • B2ZZ85
    • C9JKE6
    • C9JMC4
    • Q13706
    • Q59EC2
    • Q60FE7
    • Q6MZJ1
    • Q8WXS9
    • Q8WXT0
    • Q8WXT1
    • Q8WXT2
    • Q8WXT3
    • Q9NRB5
    • Q9NT26
    • Q9UEV9

    Protein attributes for FLNB Gene

    Size:
    2602 amino acids
    Molecular mass:
    278164 Da
    Quaternary structure:
    • Homodimer. Interacts with MICALL2 (By similarity). Interacts with FAM101A and FAM101B (By similarity). Isoform 1 interacts with FBLP1, FLNA, FLNC, GP1BA, INPPL1, ITGB1A, PSEN1 and PSEN2. Isoform 3 interacts with ITGB1A, ITGB1D, ITGB3 and ITGB6. Interacts with MYOT and MYOZ1. Interacts with HBV capsid protein.
    SequenceCaution:
    • Sequence=AAA35505.1; Type=Frameshift; Positions=2432, 2589; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for FLNB Gene

    Alternative splice isoforms for FLNB Gene

neXtProt entry for FLNB Gene

Proteomics data for FLNB Gene at MOPED

Post-translational modifications for FLNB Gene

  • ISGylation prevents ability to interact with the upstream activators of the JNK cascade and inhibits IFNA-induced JNK signaling.
  • Ubiquitination by a SCF-like complex containing ASB2 isoform 2 leads to proteasomal degradation which promotes muscle differentiation.
  • Ubiquitination at Lys16, Lys60, Lys495, Lys681, and Lys1897
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for FLNB (FLNB)

No data available for DME Specific Peptides for FLNB Gene

Domains for FLNB Gene

Suggested Antigen Peptide Sequences for FLNB Gene

Graphical View of Domain Structure for InterPro Entry

O75369

UniProtKB/Swiss-Prot:

FLNB_HUMAN :
  • O75369
Domain:
  • Comprised of a NH2-terminal actin-binding domain, 24 internally homologous repeats and two hinge regions. Repeat 24 and the second hinge domain are important for dimer formation. The first hinge region prevents binding to ITGA and ITGB subunits
  • Contains 1 actin-binding domain.
  • Contains 2 CH (calponin-homology) domains.
Family:
  • Belongs to the filamin family.
Similarity:
  • Contains 24 filamin repeats.
genes like me logo Genes that share domains with FLNB: view

No data available for Gene Families for FLNB Gene

Function for FLNB Gene

Molecular function for FLNB Gene

GENATLAS Biochemistry: filamin B,dimeric actin cross-linking phosphoprotein of the peripheral cytoplasm,interacting with the cytoplasmic tail of glycoprotein GP1BA
UniProtKB/Swiss-Prot Function: Connects cell membrane constituents to the actin cytoskeleton. May promote orthogonal branching of actin filaments and links actin filaments to membrane glycoproteins. Anchors various transmembrane proteins to the actin cytoskeleton. Interaction with FLNA may allow neuroblast migration from the ventricular zone into the cortical plate. Various interactions and localizations of isoforms affect myotube morphology and myogenesis. Isoform 6 accelerates muscle differentiation in vitro

Gene Ontology (GO) - Molecular Function for FLNB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding NAS 8327473
GO:0005515 protein binding IPI 10644691
GO:0042802 identical protein binding IPI 12393796
GO:0044822 poly(A) RNA binding IDA 22681889
genes like me logo Genes that share ontologies with FLNB: view
genes like me logo Genes that share phenotypes with FLNB: view

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for FLNB Gene

Localization for FLNB Gene

Subcellular locations from UniProtKB/Swiss-Prot for FLNB Gene

Isoform 1: Cytoplasm, cell cortex. Cytoplasm, cytoskeleton. Cytoplasm, myofibril, sarcomere, Z line. Note=In differentiating myotubes, isoform 1, isoform 2 and isoform 3 are localized diffusely throughout the cytoplasm with regions of enrichment at the longitudinal actin stress fiber. In differentiated tubes, isoform 1 is also detected within the Z-lines.
Isoform 2: Cytoplasm, cytoskeleton. Note=Predominantly localized at actin stress fibers.
Isoform 3: Cytoplasm, cytoskeleton. Note=Predominantly localized at actin stress fibers.
Isoform 6: Cytoplasm, cytoskeleton. Note=Polarized at the periphery of myotubes.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FLNB Gene COMPARTMENTS Subcellular localization image for FLNB gene
Compartment Confidence
cytoskeleton 5
cytosol 4
plasma membrane 4
golgi apparatus 3
nucleus 3
mitochondrion 1

Gene Ontology (GO) - Cellular Components for FLNB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001725 stress fiber IEA --
GO:0005737 cytoplasm IDA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IDA --
GO:0005925 focal adhesion IDA 21423176
genes like me logo Genes that share ontologies with FLNB: view

Pathways for FLNB Gene

genes like me logo Genes that share pathways with FLNB: view

PCR Array Products

Gene Ontology (GO) - Biological Process for FLNB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007016 cytoskeletal anchoring at plasma membrane TAS 9694715
GO:0007165 signal transduction TAS 8327473
GO:0007519 skeletal muscle tissue development IEA --
GO:0019221 cytokine-mediated signaling pathway TAS --
GO:0030036 actin cytoskeleton organization IEA --
genes like me logo Genes that share ontologies with FLNB: view

Compounds for FLNB Gene

(2) Novoseek inferred chemical compound relationships for FLNB Gene

Compound -log(P) Hits PubMed IDs
trypsinogen 71.5 9
cholesterol 0 4
genes like me logo Genes that share compounds with FLNB: view

Transcripts for FLNB Gene

Unigene Clusters for FLNB Gene

Filamin B, beta:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for FLNB

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for FLNB

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for FLNB Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^
SP1: - -
SP2: - -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11: -
SP12:

ExUns: 27 ^ 28a · 28b ^ 29 ^ 30 ^ 31 ^ 32a · 32b ^ 33 ^ 34 ^ 35 ^ 36a · 36b ^ 37 ^ 38a · 38b ^ 39a · 39b ^ 40a · 40b ^ 41 ^ 42a · 42b ^ 43a · 43b ^ 44 ^
SP1: - - - - -
SP2: - - - - - -
SP3: - - - - - -
SP4: - - - - - -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

ExUns: 45a · 45b ^ 46 ^ 47a · 47b ^ 48a · 48b ^ 49 ^ 50a · 50b · 50c
SP1: - - -
SP2: - - -
SP3: - - -
SP4: - - -
SP5: -
SP6:
SP7:
SP8:
SP9: -
SP10:
SP11:
SP12:

Relevant External Links for FLNB Gene

GeneLoc Exon Structure for
FLNB
ECgene alternative splicing isoforms for
FLNB

Expression for FLNB Gene

mRNA expression in normal human tissues for FLNB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for FLNB Gene

SOURCE GeneReport for Unigene cluster for FLNB Gene Hs.476448

mRNA Expression by UniProt/SwissProt for FLNB Gene

O75369-FLNB_HUMAN
Tissue specificity: Ubiquitous. Isoform 1 and isoform 2 are expressed in placenta, bone marrow, brain, umbilical vein endothelial cells (HUVEC), retina and skeletal muscle. Isoform 1 is predominantly expressed in prostate, uterus, liver, thyroid, stomach, lymph node, small intestine, spleen, skeletal muscle, kidney, placenta, pancreas, heart, lung, platelets, endothelial cells, megakaryocytic and erythroleukemic cell lines. Isoform 2 is predominantly expressed in spinal cord, platelet and Daudi cells. Also expressed in thyroid adenoma, neurofibrillary tangles (NFT), senile plaques in the hippocampus and cerebral cortex in Alzheimer disease (AD). Isoform 3 and isoform 6 are expressed predominantly in lung, heart, skeletal muscle, testis, spleen, thymus and leukocytes. Isoform 4 and isoform 5 are expressed in heart.
genes like me logo Genes that share expressions with FLNB: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for FLNB Gene

Orthologs for FLNB Gene

This gene was present in the common ancestor of animals.

Orthologs for FLNB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FLNB 35
  • 99.27 (n)
  • 99.62 (a)
FLNB 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia FLNB 35
  • 90.23 (n)
  • 96.73 (a)
FLNB 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FLNB 35
  • 91.23 (n)
  • 97.61 (a)
FLNB 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Flnb 35
  • 87.87 (n)
  • 95.83 (a)
Flnb 16
Flnb 36
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FLNB 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FLNB 36
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Flnb 35
  • 87.63 (n)
  • 95.62 (a)
chicken
(Gallus gallus)
Aves FLNB 35
  • 75.76 (n)
  • 83.95 (a)
FLNB 36
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FLNB 36
  • 85 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.4796 35
tropical clawed frog
(Silurana tropicalis)
Amphibia flnb 35
  • 73.32 (n)
  • 80.28 (a)
zebrafish
(Danio rerio)
Actinopterygii flna 35
FLNB (1 of 2) 36
  • 28 (a)
OneToMany
flnbl 36
  • 74 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG5984 36
  • 39 (a)
ManyToMany
cher 36
  • 49 (a)
ManyToMany
jbug 36
  • 21 (a)
ManyToMany
jbug 37
  • 23 (a)
cher 37
  • 52 (a)
worm
(Caenorhabditis elegans)
Secernentea fln-1 36
  • 34 (a)
ManyToMany
fln-2 36
  • 17 (a)
ManyToMany
Y66H1B.2 37
  • 34 (a)
Y66H1B.3 37
  • 32 (a)
C23F12.2 37
  • 43 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 52 (a)
ManyToMany
Species with no ortholog for FLNB:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for FLNB Gene

ENSEMBL:
Gene Tree for FLNB (if available)
TreeFam:
Gene Tree for FLNB (if available)

Paralogs for FLNB Gene

Paralogs for FLNB Gene

Selected SIMAP similar genes for FLNB Gene using alignment to 4 proteins:

Pseudogenes.org Pseudogenes for FLNB Gene

genes like me logo Genes that share paralogs with FLNB: view

Variants for FLNB Gene

Sequence variations from dbSNP and Humsavar for FLNB Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs8640 -- 58,168,600(+) ATCAG(C/T)GTCAA reference, synonymous-codon
rs9613 -- 58,171,884(+) AGCTG(A/C/G/T)GTGGT utr-variant-3-prime
rs11412 -- 58,171,419(+) CGCTC(C/T)GGTGA utr-variant-3-prime
rs11667 -- 58,171,354(+) CCCTA(C/G)AGAAA utr-variant-3-prime
rs12092 -- 58,172,057(+) GTGGC(C/T)ACTCT utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for FLNB Gene

Variant ID Type Subtype PubMed ID
nsv876830 CNV Gain 21882294
nsv528147 CNV Gain 19592680
nsv3837 CNV Insertion 18451855
esv992067 CNV Insertion 20482838
nsv834703 CNV Gain 17160897
esv8627 OTHER Inversion 19470904
esv991656 CNV Gain 20482838

Relevant External Links for FLNB Gene

HapMap Linkage Disequilibrium report
FLNB
Human Gene Mutation Database (HGMD)
FLNB

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FLNB Gene

Disorders for FLNB Gene

(5) OMIM Diseases for FLNB Gene (603381)

UniProtKB/Swiss-Prot

FLNB_HUMAN
  • Note=Interaction with FLNA may compensate for dysfunctional FLNA homodimer in the periventricular nodular heterotopia (PVNH) disorder.
  • Atelosteogenesis 1 (AO1) [MIM:108720]: A lethal chondrodysplasia characterized by distal hypoplasia of the humeri and femurs, hypoplasia of the mid-thoracic spine, occasionally complete lack of ossification of single hand bones, and the finding in cartilage of multiple degenerated chondrocytes which are encapsulated in fibrous tissue. {ECO:0000269 PubMed:14991055}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Atelosteogenesis 3 (AO3) [MIM:108721]: A short-limb lethal skeletal dysplasia with vertebral abnormalities, disharmonious skeletal maturation, poorly modeled long bones and joint dislocations. Recurrent respiratory insufficiency and/or infections usually result in early death. {ECO:0000269 PubMed:14991055}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Boomerang dysplasia (BOOMD) [MIM:112310]: A perinatal lethal osteochondrodysplasia characterized by absence or underossification of the limb bones and vertebrae. Patients manifest dwarfism with short, bowed, rigid limbs and characteristic facies. Boomerang dysplasia is distinguished from atelosteogenesis on the basis of a more severe defect in mineralization, with complete absence of ossification in some limb elements and vertebral segments. {ECO:0000269 PubMed:15994868}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Larsen syndrome (LRS) [MIM:150250]: An osteochondrodysplasia characterized by large-joint dislocations and characteristic craniofacial abnormalities. The cardinal features of the condition are dislocations of the hip, knee and elbow joints, with equinovarus or equinovalgus foot deformities. Spatula-shaped fingers, most marked in the thumb, are also present. Craniofacial anomalies include hypertelorism, prominence of the forehead, a depressed nasal bridge, and a flattened midface. Cleft palate and short stature are often associated features. Spinal anomalies include scoliosis and cervical kyphosis. Hearing loss is a well-recognized complication. {ECO:0000269 PubMed:14991055, ECO:0000269 PubMed:16801345}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Spondylocarpotarsal synostosis syndrome (SCT) [MIM:272460]: Disorder characterized by short stature and vertebral, carpal and tarsal fusions. {ECO:0000269 PubMed:14991055}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(20) Novoseek inferred disease relationships for FLNB Gene

Disease -log(P) Hits PubMed IDs
boomerang dysplasia 87.9 3
larsens syndrome 86 12
osteochondrodysplasias 72 1
skeletal disorder 51.9 4
skeletal dysplasia 47.1 2

Relevant External Links for FLNB

GeneTests
FLNB
GeneReviews
FLNB
Genetic Association Database (GAD)
FLNB
Human Genome Epidemiology (HuGE) Navigator
FLNB
genes like me logo Genes that share disorders with FLNB: view

Publications for FLNB Gene

  1. Cloning from the thyroid of a protein related to actin binding protein that is recognized by Graves disease immunoglobulins. (PMID: 8327473) Leedman P.J. … Harrison L.C. (Proc. Natl. Acad. Sci. U.S.A. 1993) 2 3 4 23
  2. Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. (PMID: 14991055) Krakow D. … Cohn D.H. (Nat. Genet. 2004) 2 3 4 23
  3. A molecular and clinical study of Larsen syndrome caused by mutations in FLNB. (PMID: 16801345) Bicknell L.S. … Robertson S.P. (J. Med. Genet. 2007) 2 3 4 23
  4. Interaction of presenilins with the filamin family of actin-binding proteins. (PMID: 9437013) Zhang W. … Wu J.Y. (J. Neurosci. 1998) 3 4 23
  5. Different splice variants of filamin-B affect myogenesis, subcellular distribution, and determine binding to integrin (beta) subunits. (PMID: 11807098) van Der Flier A. … Sonnenberg A. (J. Cell Biol. 2002) 3 4 23

Products for FLNB Gene

Sources for FLNB Gene

Back to Top

Content