Homo sapiens Protein: FLNB | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Protein | IDBP-380520.5 | ||||||||||||||||||||||
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 | ENSP00000415599 | ||||||||||||||||||||||
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.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||
InterPro |
IPR001298
Filamin/ABP280 repeat IPR001715 Calponin homology domain IPR014756 Immunoglobulin E-set IPR017868 Filamin/ABP280 repeat-like |
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PFAM |
PF00307
PF00630 |
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PRINTS | |||||||||||||||||||||||
PIRSF | |||||||||||||||||||||||
SMART |
SM00557
SM00033 |
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TIGRFAMs | |||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||
Modification | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | O75369 | ||||||||||||||||||||||
PhosphoSite | PhosphoSite-O75369 | ||||||||||||||||||||||
TrEMBL | |||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 2317 | ||||||||||||||||||||||
UniGene | Hs.574321 | ||||||||||||||||||||||
RefSeq | NP_001157790 | ||||||||||||||||||||||
HUGO | HGNC:3755 | ||||||||||||||||||||||
OMIM | 603381 | ||||||||||||||||||||||
CCDS | CCDS54600 | ||||||||||||||||||||||
HPRD | 04543 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AB191258 AB209889 AB371580 AB371581 AB371582 AC114399 AC137936 AF042166 AF043045 AF191594 AF191595 AF191596 AF191597 AF191598 AF191599 AF191600 AF191601 AF191602 AF191603 AF191604 AF191605 AF191606 AF191607 AF191608 AF191609 AF191610 AF191611 AF191612 AF191613 AF191614 AF191615 AF191616 AF191617 AF191618 AF191619 AF191620 AF191621 AF191622 AF191623 AF191624 AF191625 AF191626 AF191627 AF191628 AF191629 AF191630 AF191631 AF191632 AF191633 AF238609 AF353667 AL137574 BX641085 M62994 | ||||||||||||||||||||||
GenPept | AAA35505 AAC33845 AAC39842 AAF72339 AAF97046 AAL68440 AAL68441 AAL68442 AAL68443 BAD52434 BAD93126 BAG48309 BAG48310 BAG48311 CAB70818 CAE46040 | ||||||||||||||||||||||