InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: FLNB

Summary

InnateDB Protein

IDBP-41576.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

FLNB

Protein Name

filamin B, beta

Synonyms

ABP-278; ABP-280; AOI; FH1; FLN-B; FLN1L; LRS1; SCT; TABP; TAP;

Species

Homo sapiens

Ensembl Protein

ENSP00000295956

InnateDB Gene

IDBG-41570 (FLNB)

Protein Structure

UniProt Annotation

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.

Subcellular Localization

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.

Disease Associations

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:0000269PubMed: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:0000269PubMed: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:0000269PubMed: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:0000269PubMed:14991055, ECO:0000269PubMed: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:0000269PubMed:14991055}. Note=The disease is caused by mutations affecting the gene represented in this entry.

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. {ECO:0000269PubMed:11807098, ECO:0000269PubMed:8327473, ECO:0000269PubMed:9651345, ECO:0000269PubMed:9694715}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 70 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.

Experimentally validated
Total	70 [view]
Protein-Protein	70 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	4 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003779	actin binding
GO:0005515	protein binding
GO:0042802	identical protein binding
GO:0044822	poly(A) RNA binding

Biological Process

GO:0007016	cytoskeletal anchoring at plasma membrane
GO:0007165	signal transduction
GO:0019221	cytokine-mediated signaling pathway
GO:0030036	actin cytoskeleton organization
GO:0030154	cell differentiation

Cellular Component

GO:0005737	cytoplasm
GO:0005829	cytosol
GO:0005886	plasma membrane
GO:0005938	cell cortex
GO:0015629	actin cytoskeleton
GO:0016021	integral component of membrane
GO:0030018	Z disc
GO:0070062	extracellular vesicular exosome