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

Aliases for FLNB Gene

Aliases for FLNB Gene

  • Filamin B 2 3 5
  • 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
  • Filamin B, Beta 2 3
  • ABP-280 Homolog 3 4
  • Beta-Filamin 3 4
  • Filamin-3 3 4
  • ABP-278 3 4
  • FLN1L 3 4
  • FLN-B 3 4
  • TABP 3 4
  • FH1 3 4
  • TAP 3 4
  • Filamin B, Beta (Actin Binding Protein 278) 2
  • Truncated Actin-Binding Protein 4
  • Truncated ABP 4
  • Beta Filamin 2
  • Filamin-B 3
  • ABP-280 3
  • LRS1 3
  • FLN3 4
  • AOI 3
  • SCT 3

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) is a Protein Coding gene. Diseases associated with FLNB include Larsen Syndrome and Atelosteogenesis, Type I. Among its related pathways are Interferon gamma signaling and Innate Immune System. GO annotations related to this gene include poly(A) RNA binding and actin binding. An important paralog of this gene is FLNC.

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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FLNB Gene

Genomics for FLNB Gene

Regulatory Elements for FLNB Gene

Enhancers for FLNB Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03G058046 2 FANTOM5 Ensembl ENCODE dbSUPER 20.9 +42.8 42805 9.0 HDGF PKNOX1 FOXA2 ZFP64 ARID4B SIN3A DMAP1 FEZF1 ZNF2 YY1 FLNB-AS1 FLNB DENND6A PXK GC03P058010
GH03G058172 1.9 FANTOM5 Ensembl ENCODE dbSUPER 19.5 +166.8 166758 4.6 HDGF FOXA2 PKNOX1 ARNT MLX CREB3L1 ARID4B DMAP1 YY1 SLC30A9 FLNB DNASE1L3 FLNB-AS1 RPP14 APPL1 HTD2 DENND6A ABHD6 KCTD6 LOC105377650
GH03G057947 1.9 FANTOM5 Ensembl ENCODE dbSUPER 18.2 -57.6 -57598 6.6 HDGF FOXA2 PKNOX1 ZFP64 ARID4B SIN3A ZNF766 FOS SP5 ZNF592 FLNB-AS1 FLNB DENND6A KCTD6 APPL1 ABHD6 DNASE1L3 SLMAP PXK GC03P057941
GH03G058034 1.6 Ensembl ENCODE dbSUPER 18.7 +32.0 31985 11.9 HDGF PKNOX1 FOXA2 ZFP64 SIN3A ARID4B FEZF1 ZNF2 YY1 ZNF766 FLNB FLNB-AS1 GC03P058010
GH03G058348 2 FANTOM5 Ensembl ENCODE dbSUPER 13.7 +342.2 342173 3.7 HDGF FEZF1 ZNF2 YY1 ZNF766 CBX5 ZNF143 ZNF416 FOS ZNF263 DENND6A FLNB-AS1 KCTD6 RPP14 PXK FLNB DNASE1L3 ABHD6 PDHB LOC105377106
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FLNB on UCSC Golden Path with GeneCards custom track

Promoters for FLNB Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000304227 700 2201 HDGF FOXA2 ZNF133 ARID4B SIN3A DMAP1 GLI4 ZNF2 ZNF48 GTF3C2

Genomic Location for FLNB Gene

Chromosome:
3
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

Genes around FLNB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FLNB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 RFLNA and RFLNB (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

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 Lys495 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 & Families for FLNB Gene

Suggested Antigen Peptide Sequences for FLNB Gene

Graphical View of Domain Structure for InterPro Entry

O75369

UniProtKB/Swiss-Prot:

FLNB_HUMAN :
  • 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.
  • Belongs to the filamin family.
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.
Family:
  • Belongs to the filamin family.
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:0003723 RNA binding IDA 22681889
GO:0003779 actin binding IEA,NAS 8327473
GO:0005515 protein binding IPI 10644691
GO:0042802 identical protein binding IPI 12393796
GO:0045296 cadherin binding IDA 25468996
genes like me logo Genes that share ontologies with FLNB: view
genes like me logo Genes that share phenotypes with FLNB: view

Human Phenotype Ontology for FLNB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FLNB Gene

MGI Knock Outs for FLNB:

Animal Model Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FLNB gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 5
cytosol 5
nucleus 4
golgi apparatus 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for FLNB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001725 stress fiber IEA --
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA,IDA 16791210
GO:0005829 cytosol IDA,TAS --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with FLNB: view

Pathways & Interactions for FLNB Gene

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

Gene Ontology (GO) - Biological Process for FLNB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003334 keratinocyte development IEA --
GO:0003382 epithelial cell morphogenesis IEA --
GO:0007016 cytoskeletal anchoring at plasma membrane TAS 9694715
GO:0007165 signal transduction TAS 8327473
GO:0007275 multicellular organism development IEA --
genes like me logo Genes that share ontologies with FLNB: view

No data available for SIGNOR curated interactions for FLNB Gene

Drugs & Compounds for FLNB Gene

(1) Drugs for FLNB Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for FLNB Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE for FLNB Gene

Protein differential expression in normal tissues from HIPED for FLNB Gene

This gene is overexpressed in Bone marrow stromal cell (16.6) and Testis (8.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for FLNB Gene



Protein tissue co-expression partners for FLNB Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of FLNB Gene:

FLNB

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.

Evidence on tissue expression from TISSUES for FLNB Gene

  • Gall bladder(5)
  • Heart(4.9)
  • Liver(4.8)
  • Nervous system(4.8)
  • Muscle(4.6)
  • Thyroid gland(4.5)
  • Skin(4.3)
  • Intestine(3.9)
  • Lung(3.5)
  • Eye(3)
  • Pancreas(3)
  • Kidney(2.5)
  • Adrenal gland(2.4)
  • Blood(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FLNB Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cheek
  • chin
  • cranial nerve
  • ear
  • epiglottis
  • eye
  • eyelid
  • face
  • forehead
  • head
  • inner ear
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • skull
  • tooth
  • vocal cord
Thorax:
  • aorta
  • bronchus
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • trachea
Abdomen:
  • abdominal wall
  • intestine
  • kidney
  • large intestine
  • liver
  • small intestine
Pelvis:
  • pelvis
  • placenta
  • testicle
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with FLNB: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and 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 34 35
  • 99.27 (n)
dog
(Canis familiaris)
Mammalia FLNB 34 35
  • 91.23 (n)
cow
(Bos Taurus)
Mammalia FLNB 34 35
  • 90.23 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia FLNB 35
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Flnb 34 16 35
  • 87.87 (n)
rat
(Rattus norvegicus)
Mammalia Flnb 34
  • 87.63 (n)
oppossum
(Monodelphis domestica)
Mammalia FLNB 35
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves FLNB 34 35
  • 75.76 (n)
lizard
(Anolis carolinensis)
Reptilia FLNB 35
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia flnb 34
  • 73.32 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.4796 34
zebrafish
(Danio rerio)
Actinopterygii flnbl 35
  • 74 (a)
OneToMany
FLNB (1 of 2) 35
  • 28 (a)
OneToMany
flna 34
fruit fly
(Drosophila melanogaster)
Insecta cher 36 35
  • 52 (a)
CG5984 35
  • 39 (a)
ManyToMany
jbug 36 35
  • 23 (a)
worm
(Caenorhabditis elegans)
Secernentea C23F12.2 36
  • 43 (a)
Y66H1B.2 36
  • 34 (a)
fln-1 35
  • 34 (a)
ManyToMany
Y66H1B.3 36
  • 32 (a)
fln-2 35
  • 17 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 52 (a)
ManyToMany
Species where no ortholog for FLNB was found in the sources mined by GeneCards:
  • 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

(8) 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
rs121908896 Pathogenic, Boomerang dysplasia (BOOMD) [MIM:112310] 58,081,692(+) ACCTG(C/T)CCCAG nc-transcript-variant, reference, missense
rs150747960 A breast cancer sample 58,105,166(+) CGGGC(A/G)GTCAG nc-transcript-variant, reference, missense
rs28937586 Atelosteogenesis 1 (AO1) [MIM:108720]
rs28937587 Pathogenic, Atelosteogenesis 3 (AO3) [MIM:108721] 58,109,627(+) GGCCA(C/G)GTGTG nc-transcript-variant, reference, missense
rs28939706 Larsen syndrome (LRS) [MIM:150250]

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

Variant ID Type Subtype PubMed ID
esv3351658 CNV duplication 20981092
esv3568766 CNV loss 25503493
esv3596240 CNV loss 21293372
esv3596241 CNV loss 21293372
esv8627 OTHER inversion 19470904
esv991656 CNV gain 20482838
esv992067 CNV insertion 20482838
nsv1001814 CNV gain 25217958
nsv3837 CNV insertion 18451855
nsv473461 CNV novel sequence insertion 20440878
nsv528147 CNV gain 19592680
nsv834703 CNV gain 17160897

Variation tolerance for FLNB Gene

Residual Variation Intolerance Score: 42% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.16; 75.79% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FLNB Gene

Human Gene Mutation Database (HGMD)
FLNB
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FLNB

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

Disorders for FLNB Gene

MalaCards: The human disease database

(21) MalaCards diseases for FLNB Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
larsen syndrome
  • dominant larsen syndrome
atelosteogenesis, type i
  • atelosteogenesis type 1
atelosteogenesis, type iii
  • atelosteogenesis type 3
spondylocarpotarsal synostosis syndrome
  • scoliosis, congenital with unilateral unsegmented bar
boomerang dysplasia
  • boomerang-like skeletal dysplasia
- elite association - COSMIC cancer census association via MalaCards
Search FLNB in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FLNB_HUMAN
  • 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.
  • Note=Interaction with FLNA may compensate for dysfunctional FLNA homodimer in the periventricular nodular heterotopia (PVNH) disorder.
  • 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.

Relevant External Links for FLNB

Genetic Association Database (GAD)
FLNB
Human Genome Epidemiology (HuGE) Navigator
FLNB
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FLNB
genes like me logo Genes that share disorders with FLNB: view

No data available for Genatlas for FLNB Gene

Publications for FLNB Gene

  1. 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 22 64
  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 22 64
  3. 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 22 64
  4. ISG15 modification of filamin B negatively regulates the type I interferon-induced JNK signalling pathway. (PMID: 19270716) Jeon Y.J. … Chung C.H. (EMBO Rep. 2009) 3 4 22 64
  5. The E3 ubiquitin ligase specificity subunit ASB2beta is a novel regulator of muscle differentiation that targets filamin B to proteasomal degradation. (PMID: 19300455) Bello N.F. … Lutz P.G. (Cell Death Differ. 2009) 3 4 22 64

Products for FLNB Gene

Sources for FLNB Gene

Content
Loading form....