Aliases for FLNB Gene
Aliases for FLNB Gene
External Ids for FLNB Gene
- HGNC: 3755
- Entrez Gene: 2317
- Ensembl: ENSG00000136068
- OMIM: 603381
- UniProtKB: O75369
Previous HGNC Symbols for FLNB Gene
- FLN1L
- LRS1
Previous GeneCards Identifiers for FLNB Gene
- GC03M056977
- GC03M057448
- GC03P057848
- GC03P057951
Summaries 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 ERK Signaling and Cytoskeletal Signaling. Gene Ontology (GO) annotations related to this gene include 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.
Additional gene information for FLNB Gene
- Monarch Initiative
- Search for FLNB at DataMed
- Search for FLNB at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FLNB Gene
Genomics for FLNB Gene
GeneHancer (GH) Regulatory Elements for FLNB Gene
Promoters and enhancers for FLNB Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around FLNB on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the FLNB gene promoter:
-
- Meis-1b
- Meis-1a
- Meis-1
- GR
- GR-alpha
- GR-beta
- AML1a
- FOXC1
- NRSF form 2
Regulatory Element Products
Genomic Locations for FLNB Gene
Genomic Locations for FLNB Gene
- chr3:58,008,400-58,172,255
- (GRCh38/hg38)
- Size:
- 163,856 bases
- Orientation:
- Plus strand
- chr3:57,994,127-58,157,982
- (GRCh37/hg19)
- 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:
-
- 3p14.3 by Entrez Gene
- 3p14.3 by HGNC
- 3p14.3 by Ensembl
FLNB Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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
Protein Expression 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 Lys1897 and Lys495
- Modification sites at PhosphoSitePlus
Other Protein References for FLNB Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for FLNB
- Novus Biologicals Antibodies for FLNB
-
Abcam antibodies for FLNB
- Invitrogen Antibodies for FLNB
- antibodies-online: Search results for 88 available FLNB Antibodies ranked by validation data
- Compare Top FLNB Antibodies
-
Recommended
- 54 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 7 IHC (p) Antibodies (anti-human)
- 1 EIA Antibody (anti-human)
- 24 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 5 IHC (p) Antibodies (anti-rat)
- 13 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 3 IHC (p) Antibodies (anti-mouse)
- GeneTex FLNB Antibody for FLNB
-
Santa Cruz Biotechnology (SCBT) Antibodies for FLNB
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for FLNB
- Origene Custom Protein Services for FLNB
- Novus Biologicals proteins for FLNB
- Search GeneTex for Proteins for FLNB
-
Abcam proteins for FLNB
Assay Products
No data available for DME Specific Peptides for FLNB Gene
Domains & Families for FLNB Gene
Gene Families for FLNB Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Plasma proteins
- Potential drug targets
- Predicted intracellular proteins
- Transporters
Protein Domains for FLNB Gene
Suggested Antigen Peptide Sequences for FLNB Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
O75369UniProtKB/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.
Function for FLNB Gene
Molecular function for FLNB Gene
- 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.
- GENATLAS Biochemistry:
- filamin B,dimeric actin cross-linking phosphoprotein of the peripheral cytoplasm,interacting with the cytoplasmic tail of glycoprotein GP1BA
Phenotypes From GWAS Catalog for FLNB Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003723 | RNA binding | HDA | 22681889 |
| GO:0003779 | actin binding | IEA,NAS | 8327473 |
| GO:0005515 | protein binding | IEA,IPI | 9437013 |
| GO:0042802 | identical protein binding | IPI | 12393796 |
| GO:0045296 | cadherin binding | IDA | 25468996 |
Phenotypes for FLNB Gene
- MGI mutant phenotypes for FLNB:
- inferred from 6 alleles
- GenomeRNAi human phenotypes for FLNB:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for FLNB
-
CRISPR Products
-
OriGene CRISPR knockouts for FLNB
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for FLNB
- genomics-online: gRNA clones - Search results for available FLNB gene related products
- Applied Biological Materials CRISPR for FLNB
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for FLNB
- GenScript: Design CRISPR guide RNA sequences for FLNB
miRNA for FLNB Gene
- miRTarBase miRNAs that target FLNB
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for FLNB
- Browse OriGene Inhibitory RNA Products For FLNB
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FLNB
- genomics-online: shRNA clones - Search results for available FLNB gene related products
Clone Products
- Sino Biological Human cDNA Clone for FLNB
- Sino Biological Human cDNA Clone for FLNB
- VectorBuilder custom plasmid, inducible vectors for FLNB
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for FLNB
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for FLNB
- genomics-online: cdna clones - Search results for available FLNB gene related products
- orf clones - Search results for available FLNB gene related products
- Applied Biological Materials Clones for FLNB
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for FLNB
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.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 5 |
| cytoskeleton | 5 |
| cytosol | 5 |
| nucleus | 2 |
| golgi apparatus | 2 |
| mitochondrion | 1 |
- Cytosol (3)
- Plasma membrane (3)
- Actin filaments (2)
- Golgi apparatus (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001725 | stress fiber | IEA | -- |
| GO:0005737 | cytoplasm | HDA,IEA | 16791210 |
| GO:0005829 | cytosol | TAS,IDA | -- |
| GO:0005856 | cytoskeleton | IEA | -- |
| GO:0005886 | plasma membrane | IDA | -- |
Pathways & Interactions for FLNB Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Transport of the SLBP independent Mature mRNA | ||
| 2 | Regulation of CFTR activity (norm and CF) | ||
| 3 | Focal Adhesion |
.62
|
|
| 4 | MAPK signaling pathway | ||
| 5 | Proteoglycans in cancer | ||
Pathways by source for FLNB Gene
5 Reactome pathways for FLNB Gene
4 KEGG pathways for FLNB Gene
3 GeneGo (Thomson Reuters) pathways for FLNB Gene
3 Qiagen pathways for FLNB Gene
1 Cell Signaling Technology pathway for FLNB Gene
Interacting Proteins for FLNB Gene
Selected Interacting proteins:
O75369-FLNB_HUMAN
ENSP00000420213
for FLNB Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for FLNB
| 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 | -- |
No data available for SIGNOR curated interactions for FLNB Gene
Transcripts for FLNB Gene
mRNA/cDNA for FLNB Gene
- (5) REFSEQ mRNAs :
- (17) Additional mRNA sequences :
- (732) Selected AceView cDNA sequences:
- (14) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000490882 8079 bps (uc010hne.3)
- ENST00000295956 9463 bps (uc003djj.3)
- ENST00000358537 9391 bps (uc010hnf.3)
- ENST00000429972 9430 bps (uc003djk.3)
- ENST00000493452 7402 bps (uc003djm.3)
Unigene Clusters for FLNB Gene
- Filamin B, beta:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for FLNB
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for FLNB
- genomics-online: gRNA clones - Search results for available FLNB gene related products
- Applied Biological Materials CRISPR for FLNB
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for FLNB
- GenScript: Design CRISPR guide RNA sequences for FLNB
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for FLNB
- Browse OriGene Inhibitory RNA Products For FLNB
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FLNB
- genomics-online: shRNA clones - Search results for available FLNB gene related products
Clone Products
- Sino Biological Human cDNA Clone for FLNB
- Sino Biological Human cDNA Clone for FLNB
- VectorBuilder custom plasmid, inducible vectors for FLNB
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for FLNB
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for FLNB
- genomics-online: cdna clones - Search results for available FLNB gene related products
- orf clones - Search results for available FLNB gene related products
- Applied Biological Materials Clones for FLNB
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| 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: |
Expression 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, MaxQB, and MOPED for FLNB Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of FLNB Gene:
FLNBSOURCE GeneReport for Unigene cluster for FLNB Gene:
Hs.476448mRNA 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
Regions:
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
Primer Products
-
OriGene qPCR primer pairs and template standards for FLNB
-
OriGene qPCR primer pairs for FLNB
- genomics-online: primer clones - Search results for available FLNB gene related products
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | FLNB 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | FLNB 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | FLNB 34 33 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | FLNB 34 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Flnb 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Flnb 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | FLNB 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | FLNB 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | FLNB 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | flnb 33 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.4796 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | flnbl 34 |
|
OneToMany | |
| FLNB (1 of 2) 34 |
|
OneToMany | |||
| flna 33 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | cher 34 35 |
|
ManyToMany | |
| CG5984 34 |
|
ManyToMany | |||
| jbug 34 35 |
|
ManyToMany | |||
| worm (Caenorhabditis elegans) |
Secernentea | C23F12.2 35 |
|
|
|
| fln-1 34 |
|
ManyToMany | |||
| Y66H1B.2 35 |
|
|
|||
| Y66H1B.3 35 |
|
|
|||
| fln-2 34 |
|
ManyToMany | |||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
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)
- Aminode:
- Evolutionary constrained regions (ECRs) for FLNB: view image
Paralogs for FLNB Gene
(8) SIMAP similar genes for FLNB Gene using alignment to 4 proteins:
- FLNB_HUMAN
- E7EN95_HUMAN
- H7C5L4_HUMAN
- Q8WXT3_HUMAN
Pseudogenes.org Pseudogenes for FLNB Gene
Variants for FLNB Gene
| SNP ID | Clin | Chr 03 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1014586886 | uncertain-significance, FLNB-Related Spectrum Disorders | 58,008,484(+) | G/A/C | 5_prime_UTR_variant, non_coding_transcript_variant | |
| rs1015772607 | uncertain-significance, FLNB-Related Spectrum Disorders | 58,172,155(+) | G/A | 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant | |
| rs1022080374 | uncertain-significance, FLNB-Related Spectrum Disorders | 58,171,344(+) | G/A/C | 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant | |
| rs1052970835 | uncertain-significance, FLNB-Related Spectrum Disorders | 58,172,040(+) | A/G | 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant | |
| rs1053633011 | uncertain-significance, FLNB-Related Spectrum Disorders | 58,102,230(+) | G/A | coding_sequence_variant, missense_variant, non_coding_transcript_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv834703 | CNV | gain | 17160897 |
| nsv528147 | CNV | gain | 19592680 |
| nsv473461 | CNV | novel sequence insertion | 20440878 |
| nsv3837 | CNV | insertion | 18451855 |
| nsv1001814 | CNV | gain | 25217958 |
| esv992067 | CNV | insertion | 20482838 |
| esv991656 | CNV | gain | 20482838 |
| esv8627 | OTHER | inversion | 19470904 |
| esv3596241 | CNV | loss | 21293372 |
| esv3596240 | CNV | loss | 21293372 |
| esv3568766 | CNV | loss | 25503493 |
| esv3351658 | CNV | duplication | 20981092 |
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)
Additional Variant Information for FLNB Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FLNB Gene
Disorders for FLNB Gene
(20) MalaCards diseases for FLNB Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| larsen syndrome |
|
|
| atelosteogenesis, type i |
|
|
| atelosteogenesis, type iii |
|
|
| spondylocarpotarsal synostosis syndrome |
|
|
| boomerang dysplasia |
|
Search FLNB in MalaCards
View complete list of genes associated with diseases
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.
Additional Disease Information for FLNB
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for FLNB Gene
Publications for FLNB Gene
- A molecular and clinical study of Larsen syndrome caused by mutations in FLNB. (PMID: 16801345) Bicknell LS … Robertson SP (Journal of medical genetics 2007) 2 3 4 22 58
- Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. (PMID: 14991055) Krakow D … Cohn DH (Nature genetics 2004) 2 3 4 22 58
- Cloning from the thyroid of a protein related to actin binding protein that is recognized by Graves disease immunoglobulins. (PMID: 8327473) Leedman PJ … Harrison LC (Proceedings of the National Academy of Sciences of the United States of America 1993) 2 3 4 22 58
- The E3 ubiquitin ligase specificity subunit ASB2beta is a novel regulator of muscle differentiation that targets filamin B to proteasomal degradation. (PMID: 19300455) Bello NF … Lutz PG (Cell death and differentiation 2009) 3 4 22 58
- ISG15 modification of filamin B negatively regulates the type I interferon-induced JNK signalling pathway. (PMID: 19270716) Jeon YJ … Chung CH (EMBO reports 2009) 3 4 22 58
Products for FLNB Gene
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- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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- GenScript: Next-day shipping of latest version cDNA ORF clones for FLNB in any vector
- GenScript Custom Purified and Recombinant Proteins Services for FLNB
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- GenScript: Design CRISPR guide RNA sequences for FLNB
- Design optimal peptide antigens
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- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for FLNB
- Sino Biological Human cDNA Clone for FLNB
- Sino Biological Human cDNA Clone for FLNB
- Browse Sino Biological Recombinant Proteins
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- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for FLNB
- Novus Biologicals proteins for FLNB
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Browse Antibodies
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- Cyagen custom Knockout/knockin (KOKI) mouse models for FLNB
- VectorBuilder custom plasmid, inducible vectors for FLNB
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for FLNB
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 88 available FLNB Antibodies ranked by validation data
- Compare Top FLNB Antibodies
- Recommended
- 54 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 7 IHC (p) Antibodies (anti-human)
- 1 EIA Antibody (anti-human)
- 24 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 5 IHC (p) Antibodies (anti-rat)
- 13 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 3 IHC (p) Antibodies (anti-mouse)
- antibodies-online: Search results for 28 available FLNB Elisa Kits ranked by validation data
- Compare Top FLNB Elisa Kits
- antibodies-online: Search results for 6 available FLNB Proteins ranked by validation data
- Compare Top FLNB Proteins
- GeneTex FLNB Antibody for FLNB
- Search GeneTex for Proteins for FLNB
- Santa Cruz Biotechnology (SCBT) Antibodies for FLNB
- Search Santa Cruz Biotechnology (SCBT) for FLNB siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for FLNB
- Horizon Cell Lines for FLNB
- genomics-online: cdna clones - Search results for available FLNB gene related products
- orf clones - Search results for available FLNB gene related products
- genomics-online: gRNA clones - Search results for available FLNB gene related products
- genomics-online: primer clones - Search results for available FLNB gene related products
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- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for FLNB
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- GeneCopoeia miRNA 3'UTR Target clone products for FLNB
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FLNB
Sources for FLNB Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems
- (159) GlyConnect
- (160) Aminode
- (161) GeneCopoeia
- (162) GPS-Prot
- (163) RNACentral
- (164) LncRNADisease
- (165) LOVD
- (166) miR2Disease
- (167) DiseaseEnhancer
- (168) Boster Bio
- (169) Biorbyt