FLNA_HUMAN
Source:
PM19886704
PM23856902
BSc_CH
PM22954596
Marked as 'Non-membrane protein'
Confidence:
high (present in two of the MS resources)
Search PubMed for
(RBC AND this entry)
Gene names:
FLNA
, FLN, FLN1
Protein names and data:
FLNA_HUMAN
, Filamin-A; FLN-A
, Actin-binding protein 280; ABP-280; Alpha-filamin; Endothelial actin-binding protein; Filamin-1; Non-muscle filamin
Lenght: 2647 a.a.
Mass: 280739 Da
fasta formatted sequence
Function:
Promotes orthogonal branching of actin filaments and links actin filaments to membrane glycoproteins. Anchors various transmembrane proteins to the actin cytoskeleton and serves as a scaffold for a wide range of cytoplasmic signaling proteins. Interaction with FLNA may allow neuroblast migration from the ventricular zone into the cortical plate. Tethers cell surface- localized furin, modulates its rate of internalization and directs its intracellular trafficking (By similarity). Involved in ciliogenesis.
Disease:
( OMIM:
300017
300048
300049
300244
300321
300537
304120
305620
309350
311300
314400
)
Periventricular nodular heterotopia 1 (PVNH1) [MIM:300049]: A developmental disorder characterized by the presence of periventricular nodules of cerebral gray matter, resulting from a failure of neurons to migrate normally from the lateral ventricular proliferative zone, where they are formed, to the cerebral cortex. PVNH1 is an X-linked dominant form. Heterozygous females have normal intelligence but suffer from seizures and various manifestations outside the central nervous system, especially related to the vascular system. Hemizygous affected males die in the prenatal or perinatal period. Note=The disease is caused by mutations affecting the gene represented in this entry. Periventricular nodular heterotopia 4 (PVNH4) [MIM:300537]: A disorder characterized by nodular brain heterotopia, joint hypermobility and development of aortic dilation in early adulthood. Note=The disease is caused by mutations affecting the gene represented in this entry. Otopalatodigital syndrome 1 (OPD1) [MIM:311300]: X-linked dominant multiple congenital anomalies disease mainly characterized by a generalized skeletal dysplasia, mild mental retardation, hearing loss, cleft palate, and typical facial anomalies. OPD1 belongs to a group of X-linked skeletal dysplasias known as oto-palato-digital syndrome spectrum disorders that also include OPD2, Melnick-Needles syndrome (MNS), and frontometaphyseal dysplasia (FMD). Remodeling of the cytoskeleton is central to the modulation of cell shape and migration. FLNA is a widely expressed protein that regulates re-organization of the actin cytoskeleton by interacting with integrins, transmembrane receptor complexes and second messengers. Males with OPD1 have cleft palate, malformations of the ossicles causing deafness and milder bone and limb defects than those associated with OPD2. Obligate female carriers of mutations causing both OPD1 and OPD2 have variable (often milder) expression of a similar phenotypic spectrum. Note=The disease is caused by mutations affecting the gene represented in this entry. Otopalatodigital syndrome 2 (OPD2) [MIM:304120]: Congenital bone disorder that is characterized by abnormally modeled, bowed bones, small or absent first digits and, more variably, cleft palate, posterior fossa brain anomalies, omphalocele and cardiac defects. Note=The disease is caused by mutations affecting the gene represented in this entry. Frontometaphyseal dysplasia (FMD) [MIM:305620]: Congenital bone disease characterized by supraorbital hyperostosis, deafness and digital anomalies. Note=The disease is caused by mutations affecting the gene represented in this entry. Melnick-Needles syndrome (MNS) [MIM:309350]: Severe congenital bone disorder characterized by typical facies (exophthalmos, full cheeks, micrognathia and malalignment of teeth), flaring of the metaphyses of long bones, s-like curvature of bones of legs, irregular constrictions in the ribs, and sclerosis of base of skull. Note=The disease is caused by mutations affecting the gene represented in this entry. Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked (IPOX) [MIM:300048]: A disease characterized by a severe abnormality of gastrointestinal motility due to primary qualitative defects of enteric ganglia and nerve fibers. Affected individuals manifest recurrent signs of intestinal obstruction in the absence of any mechanical lesion. Note=The disease is caused by mutations affecting the gene represented in this entry. FG syndrome 2 (FGS2) [MIM:300321]: FG syndrome (FGS) is an X-linked disorder characterized by mental retardation, relative macrocephaly, hypotonia and constipation. Note=The disease is caused by mutations affecting the gene represented in this entry. Terminal osseous dysplasia (TOD) [MIM:300244]: A rare X- linked dominant male-lethal disease characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin and recurrent digital fibroma during infancy. A significant phenotypic variability is observed in affected females. Note=The disease is caused by mutations affecting the gene represented in this entry. Cardiac valvular dysplasia X-linked (CVDX) [MIM:314400]: A rare X-linked heart disease characterized by mitral and/or aortic valve regurgitation. The histologic features include fragmentation of collagenous bundles within the valve fibrosa and accumulation of proteoglycans, which produces excessive valve tissue leading to billowing of the valve leaflets. Note=The disease is caused by mutations affecting the gene represented in this entry. Note=Defects in FLNA may be a cause of macrothrombocytopenia, a disorder characterized by subnormal levels of blood platelets. Blood platelets are abnormally enlarged. Congenital short bowel syndrome, X-linked (CSBSX) [MIM:300048]: A disease characterized by a shortened small intestine, and malabsorption. The mean length of the small intestine in affected individuals is approximately 50 cm, compared with a normal length at birth of 190-280 cm. It is associated with significant mortality and morbidity. Infants usually present with failure to thrive, recurrent vomiting, and diarrhea. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Cytoplasm, cell cortex. Cytoplasm, cytoskeleton.
Tissue specificity:
Ubiquitous.
Genetic variants
39 - 39
A -> G (in PVNH4). VAR_022734
82 - 82
E -> V (in PVNH1; dbSNP:rs28935169). VAR_015699
28935169
102 - 102
M -> V (in PVNH1). VAR_031305
128 - 128
A -> V (in PVNH4). VAR_031306
149 - 149
S -> F (in PVNH1). VAR_031307
170 - 170
Q -> P (in OPD2). VAR_015713
172 - 172
L -> F (in OPD1). VAR_015714
196 - 196
R -> G (in OPD2). VAR_015715
196 - 196
R -> W (in OPD1). VAR_015716
200 - 200
A -> S (in OPD2). VAR_015717
203 - 203
D -> Y (in OPD1). VAR_031308
207 - 207
P -> L (in OPD1; dbSNP:rs28935469). VAR_015700
28935469
210 - 210
C -> F (in OPD2). VAR_058720
254 - 254
E -> K (in OPD2; dbSNP:rs28935470). VAR_015701
28935470
273 - 273
A -> P (in OPD2). VAR_015718
288 - 288
G -> R (in CVDX). VAR_064156
320 - 320
V -> A (in dbSNP:rs1064816). VAR_012831
1064816
370 - 370
F -> L (in dbSNP:rs1064817). VAR_012832
1064817
429 - 429
T -> M. VAR_069803
528 - 528
V -> M (in PVNH1; dbSNP:rs143873938). VAR_031309
143873938
552 - 552
V -> A (in dbSNP:rs730319). VAR_012833
730319
555 - 555
T -> K (in OPD2). VAR_015719
637 - 637
P -> Q (in CVDX). VAR_064157
656 - 656
L -> F (in PVNH1). VAR_012834
711 - 711
V -> D (in CVDX). VAR_064158
1012 - 1012
S -> L (in dbSNP:rs17091204). VAR_031310
17091204
1159 - 1159
D -> A (in FMD; does not inhibit interaction with MIS18BP1; dbSNP:rs28935471). VAR_015702
28935471
1184 - 1184
D -> E (in MNS). VAR_015720
1186 - 1186
S -> L (in FMD). VAR_015721
1188 - 1188
A -> T (in MNS; does not inhibit interaction with MIS18BP1; dbSNP:rs28935472). VAR_015703
28935472
1199 - 1199
S -> L (in MNS; does not inhibit interaction with MIS18BP1; dbSNP:rs28935473). VAR_015704
28935473
1291 - 1291
P -> L (in FGS2). VAR_058721
1419 - 1419
A -> G (in dbSNP:rs35504556). VAR_032083
35504556
1620 - 1620
Missing (in FMD). VAR_015722
1635 - 1637
Missing (in otopalatodigital spectrum disorder). VAR_031311
1645 - 1645
C -> F (in OPD2). VAR_015723
1724 - 1739
Missing (in TOD). VAR_064159
1728 - 1728
G -> C (in FMD). VAR_031312
1764 - 1764
A -> T (in dbSNP:rs57108893). VAR_012835
57108893
1803 - 1803
E -> K (probable disease-associated mutation found in a patient with macrothrombocytopenia). VAR_067251
Database cross-references
UniProt:
P21333
Ensembl:
ENST00000360319
Ensembl:
ENST00000369850
Ensembl:
ENST00000422373
Ensembl:
ENST00000596447
Ensembl:
ENST00000597475
Ensembl:
ENST00000600520
MIM:
300017
MIM:
300048
MIM:
300049
MIM:
300244
MIM:
300321
MIM:
300537
MIM:
304120
MIM:
305620
MIM:
309350
MIM:
311300
MIM:
314400
neXtProt:
NX_P21333
Antibodypedia:
P21333
(may not find the protein thus also not any antibody)
Local full text data:
click here
Users' comments
Login to add a comment.