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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]
FLNB (Filamin B) is a Protein Coding gene. Diseases associated with FLNB include Larsen Syndrome and Boomerang Dysplasia. Among its related pathways are MAPK signaling pathway and Innate Immune System. Gene Ontology (GO) annotations related to this gene include actin binding. An important paralog of this gene is FLNC.
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 | 10644691 |
GO:0042802 | identical protein binding | IPI | 12393796 |
GO:0045296 | cadherin binding | HDA | 25468996 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA | -- |
GO:0005737 | cytoplasm | IEA,HDA | 16791210 |
GO:0005829 | cytosol | IDA,TAS | -- |
GO:0005856 | cytoskeleton | IEA | -- |
GO:0005886 | plasma membrane | IDA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Transport of the SLBP independent Mature mRNA | ||
2 | Regulation of CFTR activity (norm and CF) |
Regulation of CFTR activity (norm and CF)
.38
|
wtCFTR and deltaF508 traffic / Membrane expression (norm and CF)
.38
|
3 | Cytoskeletal Signaling | ||
4 | Focal Adhesion |
.61
|
|
5 | MAPK signaling pathway |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007165 | signal transduction | TAS | 8327473 |
GO:0007275 | multicellular organism development | IEA | -- |
GO:0007517 | muscle organ development | IEA | -- |
GO:0030036 | actin cytoskeleton organization | IEA | -- |
GO:0030154 | cell differentiation | IEA | -- |
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: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | FLNB 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | FLNB 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | FLNB 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | FLNB 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Flnb 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Flnb 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | FLNB 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | FLNB 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | FLNB 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | flnb 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.4796 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | flnbl 31 |
|
OneToMany | |
FLNB (1 of 2) 31 |
|
OneToMany | |||
flna 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | cher 31 32 |
|
ManyToMany | |
CG5984 31 |
|
ManyToMany | |||
jbug 31 32 |
|
ManyToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | C23F12.2 32 |
|
|
|
fln-1 31 |
|
ManyToMany | |||
Y66H1B.2 32 |
|
|
|||
Y66H1B.3 32 |
|
|
|||
fln-2 31 |
|
ManyToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 03 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
591404 | Uncertain Significance: not provided | 58,126,712(+) |
CA/TG NM_001457.4(FLNB):c.4172_4173inv (p.Ala1391Val) |
MISSENSE | |
853596 | Uncertain Significance: not provided | 58,125,613(+) |
G/A NM_001457.4(FLNB):c.3931G>A (p.Val1311Met) |
MISSENSE | |
871255 | Uncertain Significance: not provided | 58,136,031(+) |
C/T NM_001457.4(FLNB):c.4724C>T (p.Thr1575Met) |
MISSENSE | |
899410 | Uncertain Significance: FLNB-Related Spectrum Disorders | 58,098,890(+) |
G/A NM_001457.4(FLNB):c.1327G>A (p.Val443Ile) |
MISSENSE | |
899411 | Uncertain Significance: FLNB-Related Spectrum Disorders | 58,102,224(+) |
G/A NM_001457.4(FLNB):c.1367G>A (p.Arg456Gln) |
MISSENSE |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
larsen syndrome |
|
|
boomerang dysplasia |
|
|
atelosteogenesis, type iii |
|
|
atelosteogenesis, type i |
|
|
spondylocarpotarsal synostosis syndrome |
|