InnateDB Protein
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IDBP-380521.4
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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FLNB
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Protein Name
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filamin B, beta
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Synonyms
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ABP-278; ABP-280; AOI; FH1; FLN-B; FLN1L; LRS1; SCT; TABP; TAP;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000414532
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InnateDB Gene
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IDBG-41570 (FLNB)
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Protein Structure
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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.
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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.
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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.
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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}.
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Comments |
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Number of Interactions
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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]
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Protein-Protein |
70
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
4 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR001298
Filamin/ABP280 repeat
IPR014756
Immunoglobulin E-set
IPR017868
Filamin/ABP280 repeat-like
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PFAM |
PF00630
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PRINTS |
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PIRSF |
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SMART |
SM00557
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TIGRFAMs |
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Modification |
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SwissProt |
O75369
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PhosphoSite |
PhosphoSite-O75369
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
2317
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UniGene |
Hs.574321
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RefSeq |
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HUGO |
HGNC:3755
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OMIM |
603381
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CCDS |
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HPRD |
04543
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IMGT |
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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
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GenPept |
AAA35505
AAC33845
AAC39842
AAF72339
AAF97046
AAL68440
AAL68441
AAL68442
AAL68443
BAD52434
BAD93126
BAG48309
BAG48310
BAG48311
CAB70818
CAE46040
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