FLNB_HUMAN
Source:
PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence:
low (only semi-automatic identification from reviews)
Search PubMed for
(RBC AND this entry)
Gene names:
FLNB
, FLN1L, FLN3, TABP, TAP
Protein names and data:
FLNB_HUMAN
, Filamin-B; FLN-B
, ABP-278; ABP-280 homolog; Actin-binding-like protein; Beta-filamin; Filamin homolog 1; Fh1; Filamin-3; Thyroid autoantigen; Truncated actin-binding protein; Truncated ABP
Lenght: 2602 a.a.
Mass: 278164 Da
fasta formatted sequence
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.
Disease:
( OMIM:
108720
108721
112310
150250
272460
603381
)
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. 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. 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. 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. 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
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.
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.
Genetic variants
161 - 161
F -> C (in LRS). VAR_033069
168 - 168
G -> S (in LRS). VAR_033070
171 - 171
L -> R (in BOOMD). VAR_033071
173 - 173
A -> V (in AO1; dbSNP:rs28937586). VAR_033072
28937586
188 - 188
S -> P (in AO1). VAR_033073
202 - 202
M -> V (in AO1 and AO3; dbSNP:rs28939707). VAR_033074
28939707
227 - 227
E -> K (in LRS). VAR_033075
234 - 234
L -> V (in LRS). VAR_033076
235 - 235
S -> P (in BOOMD). VAR_033077
361 - 361
G -> S (in LRS). VAR_033078
363 - 363
G -> E (in LRS). VAR_033079
566 - 566
R -> Q (in a breast cancer sample; somatic mutation). VAR_035917
663 - 663
N -> K (in a breast cancer sample; somatic mutation). VAR_035918
703 - 703
T -> K (in a breast cancer sample; somatic mutation). VAR_035919
751 - 751
G -> R (in AO3; dbSNP:rs28937587). VAR_033080
28937587
1018 - 1018
V -> M (in dbSNP:rs2276742). VAR_017182
2276742
1157 - 1157
D -> N (in dbSNP:rs1131356). VAR_017183
1131356
1179 - 1179
E -> K (in dbSNP:rs17058845). VAR_031392
17058845
1431 - 1431
L -> R (in LRS). VAR_033081
1471 - 1471
V -> M (in dbSNP:rs12632456). VAR_031393
12632456
1534 - 1534
A -> G (in a breast cancer sample; somatic mutation). VAR_035920
1571 - 1571
Missing (in LRS). VAR_033082
1586 - 1586
G -> R (in LRS; dbSNP:rs28939706). VAR_033083
28939706
1592 - 1592
V -> D (in LRS). VAR_033084
1603 - 1603
P -> L (in LRS). VAR_033085
1691 - 1691
G -> S (in LRS). VAR_033086
1834 - 1834
G -> R (in LRS). VAR_033087
Database cross-references
UniProt:
O75369
Ensembl:
ENST00000295956
Ensembl:
ENST00000348383
Ensembl:
ENST00000357272
Ensembl:
ENST00000358537
Ensembl:
ENST00000419752
Ensembl:
ENST00000429972
Ensembl:
ENST00000490882
MIM:
108720
MIM:
108721
MIM:
112310
MIM:
150250
MIM:
272460
MIM:
603381
neXtProt:
NX_O75369
Antibodypedia:
O75369
(may not find the protein thus also not any antibody)
Local full text data:
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