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Protein

Filamin-B

Gene

FLNB

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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.

GO - Molecular functioni

  • actin binding Source: UniProtKB
  • cadherin binding Source: BHF-UCL
  • identical protein binding Source: IntAct
  • RNA binding Source: UniProtKB

GO - Biological processi

Keywordsi

Molecular functionActin-binding, Developmental protein
Biological processDifferentiation, Myogenesis

Enzyme and pathway databases

ReactomeiR-HSA-1169408 ISG15 antiviral mechanism
SignaLinkiO75369

Protein family/group databases

TCDBi8.A.66.1.5 the dystrophin (dystrophin) family

Names & Taxonomyi

Protein namesi
Recommended name:
Filamin-B
Short name:
FLN-B
Alternative name(s):
ABP-278
ABP-280 homolog
Actin-binding-like protein
Beta-filamin
Filamin homolog 1
Short name:
Fh1
Filamin-3
Thyroid autoantigen
Truncated actin-binding protein
Short name:
Truncated ABP
Gene namesi
Name:FLNB
Synonyms:FLN1L, FLN3, TABP, TAP
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000136068.14
HGNCiHGNC:3755 FLNB
MIMi603381 gene
neXtProtiNX_O75369

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

Interaction with FLNA may compensate for dysfunctional FLNA homodimer in the periventricular nodular heterotopia (PVNH) disorder.
Atelosteogenesis 1 (AO1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:108720
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_033072173A → V in AO1. 1 PublicationCorresponds to variant dbSNP:rs121908894EnsemblClinVar.1
Natural variantiVAR_033073188S → P in AO1. 1 Publication1
Atelosteogenesis 3 (AO3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:108721
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_033080751G → R in AO3. 1 PublicationCorresponds to variant dbSNP:rs28937587EnsemblClinVar.1
Boomerang dysplasia (BOOMD)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:112310
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_033071171L → R in BOOMD. 1 PublicationCorresponds to variant dbSNP:rs80356494EnsemblClinVar.1
Natural variantiVAR_033077235S → P in BOOMD. 1 PublicationCorresponds to variant dbSNP:rs121908896EnsemblClinVar.1
Larsen syndrome (LRS)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:150250
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_033069161F → C in LRS. 2 PublicationsCorresponds to variant dbSNP:rs80356506EnsemblClinVar.1
Natural variantiVAR_033070168G → S in LRS. 1 PublicationCorresponds to variant dbSNP:rs80356504EnsemblClinVar.1
Natural variantiVAR_033075227E → K in LRS. 2 PublicationsCorresponds to variant dbSNP:rs80356508EnsemblClinVar.1
Natural variantiVAR_033076234L → V in LRS. 1 PublicationCorresponds to variant dbSNP:rs80356507EnsemblClinVar.1
Natural variantiVAR_033078361G → S in LRS. 1 PublicationCorresponds to variant dbSNP:rs80356509EnsemblClinVar.1
Natural variantiVAR_033079363G → E in LRS. 1 PublicationCorresponds to variant dbSNP:rs80356510EnsemblClinVar.1
Natural variantiVAR_0330811431L → R in LRS. 1 PublicationCorresponds to variant dbSNP:rs80356511EnsemblClinVar.1
Natural variantiVAR_0330821571Missing in LRS. 2 Publications1
Natural variantiVAR_0330831586G → R in LRS. 2 PublicationsCorresponds to variant dbSNP:rs80356513EnsemblClinVar.1
Natural variantiVAR_0330841592V → D in LRS. 1 PublicationCorresponds to variant dbSNP:rs80356514EnsemblClinVar.1
Natural variantiVAR_0330851603P → L in LRS. 1 PublicationCorresponds to variant dbSNP:rs80356515EnsemblClinVar.1
Natural variantiVAR_0330861691G → S in LRS. 2 PublicationsCorresponds to variant dbSNP:rs80356503EnsemblClinVar.1
Natural variantiVAR_0330871834G → R in LRS. 1 PublicationCorresponds to variant dbSNP:rs80356516EnsemblClinVar.1
Spondylocarpotarsal synostosis syndrome (SCT)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionDisorder characterized by short stature and vertebral, carpal and tarsal fusions.
See also OMIM:272460

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi2468K → R: Cytoplasmic localization. 1 Publication1

Keywords - Diseasei

Disease mutation, Dwarfism

Organism-specific databases

DisGeNETi2317
GeneReviewsiFLNB
MalaCardsiFLNB
MIMi108720 phenotype
108721 phenotype
112310 phenotype
150250 phenotype
272460 phenotype
OpenTargetsiENSG00000136068
Orphaneti1190 Atelosteogenesis type I
56305 Atelosteogenesis type III
503 Autosomal dominant Larsen syndrome
1263 Boomerang dysplasia
3275 Spondylocarpotarsal synostosis
PharmGKBiPA28173

Polymorphism and mutation databases

BioMutaiFLNB

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000872981 – 2602Filamin-BAdd BLAST2602

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei216PhosphothreonineCombined sources1
Modified residuei519PhosphothreonineCombined sources1
Modified residuei681N6-acetyllysineCombined sources1
Modified residuei730PhosphoserineCombined sources1
Modified residuei886PhosphoserineCombined sources1
Modified residuei932PhosphoserineCombined sources1
Modified residuei983PhosphoserineCombined sources1
Modified residuei1028PhosphoserineCombined sources1
Modified residuei1307PhosphothreonineCombined sources1
Modified residuei1316PhosphoserineCombined sources1
Modified residuei1433PhosphoserineCombined sources1
Modified residuei1505PhosphoserineCombined sources1
Modified residuei1602PhosphoserineCombined sources1
Modified residuei1780N6-acetyllysineBy similarity1
Modified residuei2083PhosphoserineCombined sources1
Modified residuei2107PhosphoserineCombined sources1
Modified residuei2113PhosphoserineCombined sources1
Modified residuei2369PhosphoserineCombined sources1
Modified residuei2465PhosphoserineCombined sources1
Cross-linki2468Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ISG15)1 Publication
Modified residuei2478PhosphoserineCombined sources1
Modified residuei2481PhosphoserineCombined sources1
Modified residuei2492PhosphoserineCombined sources1
Modified residuei2518N6-succinyllysineBy similarity1
Modified residuei2524N6-succinyllysineBy similarity1
Modified residuei2576N6-acetyllysineCombined sources1
Isoform 8 (identifier: O75369-8)
Modified residuei1474PhosphoserineCombined sources1

Post-translational modificationi

ISGylation prevents ability to interact with the upstream activators of the JNK cascade and inhibits IFNA-induced JNK signaling.1 Publication
Ubiquitination by a SCF-like complex containing ASB2 isoform 2 leads to proteasomal degradation which promotes muscle differentiation.1 Publication

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiO75369
MaxQBiO75369
PaxDbiO75369
PeptideAtlasiO75369
PRIDEiO75369
ProteomicsDBi49938
49939 [O75369-2]
49940 [O75369-3]
49941 [O75369-4]
49942 [O75369-5]
49943 [O75369-6]
49944 [O75369-7]
49945 [O75369-8]
49946 [O75369-9]

PTM databases

CarbonylDBiO75369
iPTMnetiO75369
PhosphoSitePlusiO75369
SwissPalmiO75369

Expressioni

Tissue specificityi

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.4 Publications

Gene expression databases

BgeeiENSG00000136068 Expressed in 228 organ(s), highest expression level in tibial nerve
ExpressionAtlasiO75369 baseline and differential
GenevisibleiO75369 HS

Organism-specific databases

HPAiCAB019322
HPA004747
HPA004886

Interactioni

Subunit structurei

Homodimer. Interacts with MICALL2 (By similarity). Interacts with RFLNA and RFLNB (By similarity). Isoform 1 interacts with FBLP1, FLNA, FLNC, GP1BA, INPPL1, ITGB1A, PSEN1 and PSEN2. Isoform 3 interacts with ITGB1A, ITGB1D, ITGB3 and ITGB6. Interacts with MYOT and MYOZ1. Interacts with HBV capsid protein.By similarity10 Publications

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi108606, 110 interactors
IntActiO75369, 56 interactors
MINTiO75369
STRINGi9606.ENSP00000420213

Structurei

Secondary structure

12602
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliO75369
SMRiO75369
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiO75369

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini16 – 122Calponin-homology (CH) 1PROSITE-ProRule annotationAdd BLAST107
Domaini139 – 242Calponin-homology (CH) 2PROSITE-ProRule annotationAdd BLAST104
Repeati249 – 347Filamin 1Add BLAST99
Repeati349 – 446Filamin 2Add BLAST98
Repeati447 – 543Filamin 3Add BLAST97
Repeati544 – 636Filamin 4Add BLAST93
Repeati640 – 736Filamin 5Add BLAST97
Repeati737 – 839Filamin 6Add BLAST103
Repeati840 – 938Filamin 7Add BLAST99
Repeati939 – 1034Filamin 8Add BLAST96
Repeati1035 – 1127Filamin 9Add BLAST93
Repeati1128 – 1222Filamin 10Add BLAST95
Repeati1223 – 1322Filamin 11Add BLAST100
Repeati1323 – 1415Filamin 12Add BLAST93
Repeati1416 – 1511Filamin 13Add BLAST96
Repeati1512 – 1608Filamin 14Add BLAST97
Repeati1609 – 1704Filamin 15Add BLAST96
Repeati1729 – 1813Filamin 16Add BLAST85
Repeati1816 – 1908Filamin 17Add BLAST93
Repeati1919 – 1994Filamin 18Add BLAST76
Repeati1997 – 2089Filamin 19Add BLAST93
Repeati2091 – 2185Filamin 20Add BLAST95
Repeati2188 – 2280Filamin 21Add BLAST93
Repeati2282 – 2375Filamin 22Add BLAST94
Repeati2379 – 2471Filamin 23Add BLAST93
Repeati2507 – 2601Filamin 24Add BLAST95

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 239Actin-bindingAdd BLAST239
Regioni1128 – 1511Interaction with FBLP11 PublicationAdd BLAST384
Regioni1705 – 1728Hinge 1By similarityAdd BLAST24
Regioni1862 – 2148Interaction with the cytoplasmic tail of GP1BAAdd BLAST287
Regioni2060 – 2225Interaction with FLNA 1Add BLAST166
Regioni2130 – 2602Interaction with INPPL11 PublicationAdd BLAST473
Regioni2472 – 2602Self-association site, tailBy similarityAdd BLAST131
Regioni2472 – 2506Hinge 2By similarityAdd BLAST35
Regioni2507 – 2602Interaction with FLNA 2Add BLAST96

Domaini

Comprised of a NH2-terminal actin-binding domain, 24 internally homologous repeats and two hinge regions. Repeat 24 and the second hinge domain are important for dimer formation. The first hinge region prevents binding to ITGA and ITGB subunits.

Sequence similaritiesi

Belongs to the filamin family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG0518 Eukaryota
COG5069 LUCA
GeneTreeiENSGT00900000140842
HOGENOMiHOG000044235
HOVERGENiHBG004163
InParanoidiO75369
KOiK04437
OMAiGTYDIFY
OrthoDBiEOG091G00U5
PhylomeDBiO75369
TreeFamiTF313685

Family and domain databases

CDDicd00014 CH, 2 hits
Gene3Di1.10.418.10, 2 hits
2.60.40.10, 24 hits
InterProiView protein in InterPro
IPR001589 Actinin_actin-bd_CS
IPR001715 CH-domain
IPR036872 CH_dom_sf
IPR017868 Filamin/ABP280_repeat-like
IPR001298 Filamin/ABP280_rpt
IPR029874 FLNB
IPR013783 Ig-like_fold
IPR014756 Ig_E-set
PANTHERiPTHR43998:SF3 PTHR43998:SF3, 1 hit
PfamiView protein in Pfam
PF00307 CH, 2 hits
PF00630 Filamin, 23 hits
SMARTiView protein in SMART
SM00033 CH, 2 hits
SM00557 IG_FLMN, 24 hits
SUPFAMiSSF47576 SSF47576, 1 hit
SSF81296 SSF81296, 24 hits
PROSITEiView protein in PROSITE
PS00019 ACTININ_1, 1 hit
PS00020 ACTININ_2, 1 hit
PS50021 CH, 2 hits
PS50194 FILAMIN_REPEAT, 24 hits

Sequences (9+)i

Sequence statusi: Complete.

This entry describes 9 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 9 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O75369-1) [UniParc]FASTAAdd to basket
Also known as: ABP-278

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MPVTEKDLAE DAPWKKIQQN TFTRWCNEHL KCVNKRIGNL QTDLSDGLRL
60 70 80 90 100
IALLEVLSQK RMYRKYHQRP TFRQMQLENV SVALEFLDRE SIKLVSIDSK
110 120 130 140 150
AIVDGNLKLI LGLVWTLILH YSISMPVWED EGDDDAKKQT PKQRLLGWIQ
160 170 180 190 200
NKIPYLPITN FNQNWQDGKA LGALVDSCAP GLCPDWESWD PQKPVDNARE
210 220 230 240 250
AMQQADDWLG VPQVITPEEI IHPDVDEHSV MTYLSQFPKA KLKPGAPLKP
260 270 280 290 300
KLNPKKARAY GRGIEPTGNM VKQPAKFTVD TISAGQGDVM VFVEDPEGNK
310 320 330 340 350
EEAQVTPDSD KNKTYSVEYL PKVTGLHKVT VLFAGQHISK SPFEVSVDKA
360 370 380 390 400
QGDASKVTAK GPGLEAVGNI ANKPTYFDIY TAGAGVGDIG VEVEDPQGKN
410 420 430 440 450
TVELLVEDKG NQVYRCVYKP MQPGPHVVKI FFAGDTIPKS PFVVQVGEAC
460 470 480 490 500
NPNACRASGR GLQPKGVRIR ETTDFKVDTK AAGSGELGVT MKGPKGLEEL
510 520 530 540 550
VKQKDFLDGV YAFEYYPSTP GRYSIAITWG GHHIPKSPFE VQVGPEAGMQ
560 570 580 590 600
KVRAWGPGLH GGIVGRSADF VVESIGSEVG SLGFAIEGPS QAKIEYNDQN
610 620 630 640 650
DGSCDVKYWP KEPGEYAVHI MCDDEDIKDS PYMAFIHPAT GGYNPDLVRA
660 670 680 690 700
YGPGLEKSGC IVNNLAEFTV DPKDAGKAPL KIFAQDGEGQ RIDIQMKNRM
710 720 730 740 750
DGTYACSYTP VKAIKHTIAV VWGGVNIPHS PYRVNIGQGS HPQKVKVFGP
760 770 780 790 800
GVERSGLKAN EPTHFTVDCT EAGEGDVSVG IKCDARVLSE DEEDVDFDII
810 820 830 840 850
HNANDTFTVK YVPPAAGRYT IKVLFASQEI PASPFRVKVD PSHDASKVKA
860 870 880 890 900
EGPGLSKAGV ENGKPTHFTV YTKGAGKAPL NVQFNSPLPG DAVKDLDIID
910 920 930 940 950
NYDYSHTVKY TPTQQGNMQV LVTYGGDPIP KSPFTVGVAA PLDLSKIKLN
960 970 980 990 1000
GLENRVEVGK DQEFTVDTRG AGGQGKLDVT ILSPSRKVVP CLVTPVTGRE
1010 1020 1030 1040 1050
NSTAKFIPRE EGLYAVDVTY DGHPVPGSPY TVEASLPPDP SKVKAHGPGL
1060 1070 1080 1090 1100
EGGLVGKPAE FTIDTKGAGT GGLGLTVEGP CEAKIECSDN GDGTCSVSYL
1110 1120 1130 1140 1150
PTKPGEYFVN ILFEEVHIPG SPFKADIEMP FDPSKVVASG PGLEHGKVGE
1160 1170 1180 1190 1200
AGLLSVDCSE AGPGALGLEA VSDSGTKAEV SIQNNKDGTY AVTYVPLTAG
1210 1220 1230 1240 1250
MYTLTMKYGG ELVPHFPARV KVEPAVDTSR IKVFGPGIEG KDVFREATTD
1260 1270 1280 1290 1300
FTVDSRPLTQ VGGDHIKAHI ANPSGASTEC FVTDNADGTY QVEYTPFEKG
1310 1320 1330 1340 1350
LHVVEVTYDD VPIPNSPFKV AVTEGCQPSR VQAQGPGLKE AFTNKPNVFT
1360 1370 1380 1390 1400
VVTRGAGIGG LGITVEGPSE SKINCRDNKD GSCSAEYIPF APGDYDVNIT
1410 1420 1430 1440 1450
YGGAHIPGSP FRVPVKDVVD PSKVKIAGPG LGSGVRARVL QSFTVDSSKA
1460 1470 1480 1490 1500
GLAPLEVRVL GPRGLVEPVN VVDNGDGTHT VTYTPSQEGP YMVSVKYADE
1510 1520 1530 1540 1550
EIPRSPFKVK VLPTYDASKV TASGPGLSSY GVPASLPVDF AIDARDAGEG
1560 1570 1580 1590 1600
LLAVQITDQE GKPKRAIVHD NKDGTYAVTY IPDKTGRYMI GVTYGGDDIP
1610 1620 1630 1640 1650
LSPYRIRATQ TGDASKCLAT GPGIASTVKT GEEVGFVVDA KTAGKGKVTC
1660 1670 1680 1690 1700
TVLTPDGTEA EADVIENEDG TYDIFYTAAK PGTYVIYVRF GGVDIPNSPF
1710 1720 1730 1740 1750
TVMATDGEVT AVEEAPVNAC PPGFRPWVTE EAYVPVSDMN GLGFKPFDLV
1760 1770 1780 1790 1800
IPFAVRKGEI TGEVHMPSGK TATPEIVDNK DGTVTVRYAP TEVGLHEMHI
1810 1820 1830 1840 1850
KYMGSHIPES PLQFYVNYPN SGSVSAYGPG LVYGVANKTA TFTIVTEDAG
1860 1870 1880 1890 1900
EGGLDLAIEG PSKAEISCID NKDGTCTVTY LPTLPGDYSI LVKYNDKHIP
1910 1920 1930 1940 1950
GSPFTAKITD DSRRCSQVKL GSAADFLLDI SETDLSSLTA SIKAPSGRDE
1960 1970 1980 1990 2000
PCLLKRLPNN HIGISFIPRE VGEHLVSIKK NGNHVANSPV SIMVVQSEIG
2010 2020 2030 2040 2050
DARRAKVYGR GLSEGRTFEM SDFIVDTRDA GYGGISLAVE GPSKVDIQTE
2060 2070 2080 2090 2100
DLEDGTCKVS YFPTVPGVYI VSTKFADEHV PGSPFTVKIS GEGRVKESIT
2110 2120 2130 2140 2150
RTSRAPSVAT VGSICDLNLK IPEINSSDMS AHVTSPSGRV TEAEIVPMGK
2160 2170 2180 2190 2200
NSHCVRFVPQ EMGVHTVSVK YRGQHVTGSP FQFTVGPLGE GGAHKVRAGG
2210 2220 2230 2240 2250
PGLERGEAGV PAEFSIWTRE AGAGGLSIAV EGPSKAEITF DDHKNGSCGV
2260 2270 2280 2290 2300
SYIAQEPGNY EVSIKFNDEH IPESPYLVPV IAPSDDARRL TVMSLQESGL
2310 2320 2330 2340 2350
KVNQPASFAI RLNGAKGKID AKVHSPSGAV EECHVSELEP DKYAVRFIPH
2360 2370 2380 2390 2400
ENGVHTIDVK FNGSHVVGSP FKVRVGEPGQ AGNPALVSAY GTGLEGGTTG
2410 2420 2430 2440 2450
IQSEFFINTT RAGPGTLSVT IEGPSKVKMD CQETPEGYKV MYTPMAPGNY
2460 2470 2480 2490 2500
LISVKYGGPN HIVGSPFKAK VTGQRLVSPG SANETSSILV ESVTRSSTET
2510 2520 2530 2540 2550
CYSAIPKASS DASKVTSKGA GLSKAFVGQK SSFLVDCSKA GSNMLLIGVH
2560 2570 2580 2590 2600
GPTTPCEEVS MKHVGNQQYN VTYVVKERGD YVLAVKWGEE HIPGSPFHVT

VP
Length:2,602
Mass (Da):278,164
Last modified:May 18, 2010 - v2
Checksum:i1BF5C64C86360C6A
GO
Isoform 2 (identifier: O75369-2) [UniParc]FASTAAdd to basket
Also known as: ABP-276

The sequence of this isoform differs from the canonical sequence as follows:
     1704-1727: Missing.

Note: May be due to exon skipping.
Show »
Length:2,578
Mass (Da):275,668
Checksum:i4E51115028A676F8
GO
Isoform 3 (identifier: O75369-3) [UniParc]FASTAAdd to basket
Also known as: Var-1

The sequence of this isoform differs from the canonical sequence as follows:
     2081-2121: Missing.

Note: May be due to exon skipping.
Show »
Length:2,561
Mass (Da):273,909
Checksum:iA367021E1BCF1EF1
GO
Isoform 7 (identifier: O75369-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-169: Missing.
     170-181: ALGALVDSCAPG → MQEHSTRRRSLS
     1717-1727: Missing.

Show »
Length:2,422
Mass (Da):257,551
Checksum:i8BB43D0D58E153B1
GO
Isoform 4 (identifier: O75369-4) [UniParc]FASTAAdd to basket
Also known as: Var-3

The sequence of this isoform differs from the canonical sequence as follows:
     2123-2150: EINSSDMSAHVTSPSGRVTEAEIVPMGK → GVRVMNCSAQILWGWRVQFHTGSRNQQQ
     2151-2602: Missing.

Show »
Length:2,150
Mass (Da):230,788
Checksum:iB1FDAE6F0E99947C
GO
Isoform 5 (identifier: O75369-5) [UniParc]FASTAAdd to basket
Also known as: Var-2

The sequence of this isoform differs from the canonical sequence as follows:
     2123-2146: EINSSDMSAHVTSPSGRVTEAEIV → GVRVMNCSAQILWGWRVQFHTGSR
     2147-2602: Missing.

Note: May be due to competing donor splice sites.
Show »
Length:2,146
Mass (Da):230,289
Checksum:i0E99947C9734D59E
GO
Isoform 6 (identifier: O75369-6) [UniParc]FASTAAdd to basket
Also known as: Var-1-DeltaH1

The sequence of this isoform differs from the canonical sequence as follows:
     1704-1727: Missing.
     2081-2121: Missing.

Note: May be due to exon skipping.
Show »
Length:2,537
Mass (Da):271,413
Checksum:iDABD7554C44F38DA
GO
Isoform 8 (identifier: O75369-8) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1463-1463: R → RADDTDSQSWRSPLKALSEFFKGDPKGDFNKT

Show »
Length:2,633
Mass (Da):281,635
Checksum:i8D8F7817049EECA1
GO
Isoform 9 (identifier: O75369-9) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1717-1727: Missing.

Note: No experimental confirmation available.
Show »
Length:2,591
Mass (Da):276,939
Checksum:i2D9AF6AF4D1469EF
GO

Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E7EN95E7EN95_HUMAN
Filamin-B
FLNB
2,409Annotation score:
A0A0A0MT44A0A0A0MT44_HUMAN
Filamin-B
FLNB
195Annotation score:
H7C5L4H7C5L4_HUMAN
Filamin-B
FLNB
135Annotation score:
A0A0C4DGA1A0A0C4DGA1_HUMAN
Filamin-B
FLNB
72Annotation score:

Sequence cautioni

The sequence AAA35505 differs from that shown. Reason: Frameshift at positions 2432 and 2589.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti816A → T in CAE46040 (PubMed:17974005).Curated1
Sequence conflicti924Y → H in CAE46040 (PubMed:17974005).Curated1
Sequence conflicti1411F → L in CAE46040 (PubMed:17974005).Curated1
Sequence conflicti1560E → G in CAE46040 (PubMed:17974005).Curated1
Sequence conflicti1953L → F in AAF97046 (PubMed:11153914).Curated1
Sequence conflicti2006K → R in AAC33845 (PubMed:9694715).Curated1
Sequence conflicti2099I → S in CAE46040 (PubMed:17974005).Curated1
Sequence conflicti2170K → N in AAF97046 (PubMed:11153914).Curated1
Sequence conflicti2293M → V in AAF97046 (PubMed:11153914).Curated1
Sequence conflicti2293M → V in CAE46040 (PubMed:17974005).Curated1
Sequence conflicti2354V → A in CAB70818 (PubMed:11230166).Curated1
Sequence conflicti2487S → C in AAA35505 (PubMed:8327473).Curated1
Sequence conflicti2571V → A in CAB70818 (PubMed:11230166).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_033069161F → C in LRS. 2 PublicationsCorresponds to variant dbSNP:rs80356506EnsemblClinVar.1
Natural variantiVAR_033070168G → S in LRS. 1 PublicationCorresponds to variant dbSNP:rs80356504EnsemblClinVar.1
Natural variantiVAR_033071171L → R in BOOMD. 1 PublicationCorresponds to variant dbSNP:rs80356494EnsemblClinVar.1
Natural variantiVAR_033072173A → V in AO1. 1 PublicationCorresponds to variant dbSNP:rs121908894EnsemblClinVar.1
Natural variantiVAR_033073188S → P in AO1. 1 Publication1
Natural variantiVAR_033074202M → V in AO1 and AO3. 1 PublicationCorresponds to variant dbSNP:rs121908895EnsemblClinVar.1
Natural variantiVAR_033075227E → K in LRS. 2 PublicationsCorresponds to variant dbSNP:rs80356508EnsemblClinVar.1
Natural variantiVAR_033076234L → V in LRS. 1 PublicationCorresponds to variant dbSNP:rs80356507EnsemblClinVar.1
Natural variantiVAR_033077235S → P in BOOMD. 1 PublicationCorresponds to variant dbSNP:rs121908896EnsemblClinVar.1
Natural variantiVAR_033078361G → S in LRS. 1 PublicationCorresponds to variant dbSNP:rs80356509EnsemblClinVar.1
Natural variantiVAR_033079363G → E in LRS. 1 PublicationCorresponds to variant dbSNP:rs80356510EnsemblClinVar.1
Natural variantiVAR_035917566R → Q in a breast cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs150747960Ensembl.1
Natural variantiVAR_035918663N → K in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_035919703T → K in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_033080751G → R in AO3. 1 PublicationCorresponds to variant dbSNP:rs28937587EnsemblClinVar.1
Natural variantiVAR_0171821018V → M. Corresponds to variant dbSNP:rs2276742Ensembl.1
Natural variantiVAR_0171831157D → N3 PublicationsCorresponds to variant dbSNP:rs1131356EnsemblClinVar.1
Natural variantiVAR_0313921179E → K. Corresponds to variant dbSNP:rs17058845EnsemblClinVar.1
Natural variantiVAR_0330811431L → R in LRS. 1 PublicationCorresponds to variant dbSNP:rs80356511EnsemblClinVar.1
Natural variantiVAR_0313931471V → M3 PublicationsCorresponds to variant dbSNP:rs12632456EnsemblClinVar.1
Natural variantiVAR_0359201534A → G in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_0330821571Missing in LRS. 2 Publications1
Natural variantiVAR_0330831586G → R in LRS. 2 PublicationsCorresponds to variant dbSNP:rs80356513EnsemblClinVar.1
Natural variantiVAR_0330841592V → D in LRS. 1 PublicationCorresponds to variant dbSNP:rs80356514EnsemblClinVar.1
Natural variantiVAR_0330851603P → L in LRS. 1 PublicationCorresponds to variant dbSNP:rs80356515EnsemblClinVar.1
Natural variantiVAR_0330861691G → S in LRS. 2 PublicationsCorresponds to variant dbSNP:rs80356503EnsemblClinVar.1
Natural variantiVAR_0330871834G → R in LRS. 1 PublicationCorresponds to variant dbSNP:rs80356516EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0241131 – 169Missing in isoform 7. 1 PublicationAdd BLAST169
Alternative sequenceiVSP_024114170 – 181ALGAL…SCAPG → MQEHSTRRRSLS in isoform 7. 1 PublicationAdd BLAST12
Alternative sequenceiVSP_0434461463R → RADDTDSQSWRSPLKALSEF FKGDPKGDFNKT in isoform 8. 2 Publications1
Alternative sequenceiVSP_0087731704 – 1727Missing in isoform 2 and isoform 6. 3 PublicationsAdd BLAST24
Alternative sequenceiVSP_0241151717 – 1727Missing in isoform 7 and isoform 9. 3 PublicationsAdd BLAST11
Alternative sequenceiVSP_0087742081 – 2121Missing in isoform 3 and isoform 6. CuratedAdd BLAST41
Alternative sequenceiVSP_0087752123 – 2150EINSS…VPMGK → GVRVMNCSAQILWGWRVQFH TGSRNQQQ in isoform 4. CuratedAdd BLAST28
Alternative sequenceiVSP_0087772123 – 2146EINSS…EAEIV → GVRVMNCSAQILWGWRVQFH TGSR in isoform 5. CuratedAdd BLAST24
Alternative sequenceiVSP_0087782147 – 2602Missing in isoform 5. CuratedAdd BLAST456
Alternative sequenceiVSP_0087762151 – 2602Missing in isoform 4. CuratedAdd BLAST452

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF042166 mRNA Translation: AAC39842.1
AF043045 mRNA Translation: AAC33845.1
AF353666 mRNA Translation: AAL68439.1
AF353667 Genomic DNA Translation: AAL68440.1
AF353667 Genomic DNA Translation: AAL68441.1
AF353667 Genomic DNA Translation: AAL68442.1
AF353667 Genomic DNA Translation: AAL68443.1
AF191633
, AF191594, AF191595, AF191596, AF191597, AF191598, AF191599, AF191600, AF191601, AF191602, AF191603, AF191604, AF191605, AF191606, AF191607, AF191608, AF191609, AF191611, AF191610, AF191613, AF191612, AF191614, AF191615, AF191617, AF191616, AF191618, AF191619, AF191620, AF191621, AF191622, AF191623, AF191624, AF191625, AF191627, AF191626, AF191628, AF191629, AF191630, AF191631, AF191632 Genomic DNA Translation: AAF72339.1
AF238609 mRNA Translation: AAF97046.1
AB371580 mRNA Translation: BAG48309.1
AB371581 mRNA Translation: BAG48310.1
AB371582 mRNA Translation: BAG48311.1
AB191258 mRNA Translation: BAD52434.1
BX641085 mRNA Translation: CAE46040.1
AC114399 Genomic DNA No translation available.
AC137936 Genomic DNA No translation available.
AL137574 mRNA Translation: CAB70818.1
AB209889 mRNA Translation: BAD93126.1
M62994 mRNA Translation: AAA35505.1 Frameshift.
CCDSiCCDS2885.1 [O75369-1]
CCDS54599.1 [O75369-8]
CCDS54600.1 [O75369-9]
CCDS54601.1 [O75369-2]
PIRiT46270
RefSeqiNP_001157789.1, NM_001164317.1 [O75369-8]
NP_001157790.1, NM_001164318.1 [O75369-9]
NP_001157791.1, NM_001164319.1 [O75369-2]
NP_001448.2, NM_001457.3 [O75369-1]
UniGeneiHs.476448

Genome annotation databases

EnsembliENST00000295956; ENSP00000295956; ENSG00000136068 [O75369-1]
ENST00000358537; ENSP00000351339; ENSG00000136068 [O75369-2]
ENST00000429972; ENSP00000415599; ENSG00000136068 [O75369-9]
ENST00000490882; ENSP00000420213; ENSG00000136068 [O75369-8]
GeneIDi2317
KEGGihsa:2317
UCSCiuc003djj.3 human [O75369-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF042166 mRNA Translation: AAC39842.1
AF043045 mRNA Translation: AAC33845.1
AF353666 mRNA Translation: AAL68439.1
AF353667 Genomic DNA Translation: AAL68440.1
AF353667 Genomic DNA Translation: AAL68441.1
AF353667 Genomic DNA Translation: AAL68442.1
AF353667 Genomic DNA Translation: AAL68443.1
AF191633
, AF191594, AF191595, AF191596, AF191597, AF191598, AF191599, AF191600, AF191601, AF191602, AF191603, AF191604, AF191605, AF191606, AF191607, AF191608, AF191609, AF191611, AF191610, AF191613, AF191612, AF191614, AF191615, AF191617, AF191616, AF191618, AF191619, AF191620, AF191621, AF191622, AF191623, AF191624, AF191625, AF191627, AF191626, AF191628, AF191629, AF191630, AF191631, AF191632 Genomic DNA Translation: AAF72339.1
AF238609 mRNA Translation: AAF97046.1
AB371580 mRNA Translation: BAG48309.1
AB371581 mRNA Translation: BAG48310.1
AB371582 mRNA Translation: BAG48311.1
AB191258 mRNA Translation: BAD52434.1
BX641085 mRNA Translation: CAE46040.1
AC114399 Genomic DNA No translation available.
AC137936 Genomic DNA No translation available.
AL137574 mRNA Translation: CAB70818.1
AB209889 mRNA Translation: BAD93126.1
M62994 mRNA Translation: AAA35505.1 Frameshift.
CCDSiCCDS2885.1 [O75369-1]
CCDS54599.1 [O75369-8]
CCDS54600.1 [O75369-9]
CCDS54601.1 [O75369-2]
PIRiT46270
RefSeqiNP_001157789.1, NM_001164317.1 [O75369-8]
NP_001157790.1, NM_001164318.1 [O75369-9]
NP_001157791.1, NM_001164319.1 [O75369-2]
NP_001448.2, NM_001457.3 [O75369-1]
UniGeneiHs.476448

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2DI8NMR-A1999-2096[»]
2DI9NMR-A1017-1134[»]
2DIANMR-A1130-1229[»]
2DIBNMR-A1215-1329[»]
2DICNMR-A1325-1422[»]
2DJ4NMR-A1418-1518[»]
2DLGNMR-A2104-2192[»]
2DMBNMR-A1611-1721[»]
2DMCNMR-A1899-2001[»]
2E9INMR-A2094-2192[»]
2E9JNMR-A1504-1615[»]
2EE6NMR-A2190-2287[»]
2EE9NMR-A1736-1823[»]
2EEANMR-A1808-1915[»]
2EEBNMR-A2284-2382[»]
2EECNMR-A2371-2488[»]
2EEDNMR-A2509-2602[»]
2WA5X-ray1.90A2-242[»]
2WA6X-ray1.95A2-242[»]
2WA7X-ray1.85A2-242[»]
3FERX-ray2.40A/B/C/D1-252[»]
4B7LX-ray2.05A/B1-347[»]
5DCPX-ray2.49A/B1737-1911[»]
ProteinModelPortaliO75369
SMRiO75369
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108606, 110 interactors
IntActiO75369, 56 interactors
MINTiO75369
STRINGi9606.ENSP00000420213

Protein family/group databases

TCDBi8.A.66.1.5 the dystrophin (dystrophin) family

PTM databases

CarbonylDBiO75369
iPTMnetiO75369
PhosphoSitePlusiO75369
SwissPalmiO75369

Polymorphism and mutation databases

BioMutaiFLNB

Proteomic databases

EPDiO75369
MaxQBiO75369
PaxDbiO75369
PeptideAtlasiO75369
PRIDEiO75369
ProteomicsDBi49938
49939 [O75369-2]
49940 [O75369-3]
49941 [O75369-4]
49942 [O75369-5]
49943 [O75369-6]
49944 [O75369-7]
49945 [O75369-8]
49946 [O75369-9]

Protocols and materials databases

DNASUi2317
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000295956; ENSP00000295956; ENSG00000136068 [O75369-1]
ENST00000358537; ENSP00000351339; ENSG00000136068 [O75369-2]
ENST00000429972; ENSP00000415599; ENSG00000136068 [O75369-9]
ENST00000490882; ENSP00000420213; ENSG00000136068 [O75369-8]
GeneIDi2317
KEGGihsa:2317
UCSCiuc003djj.3 human [O75369-1]

Organism-specific databases

CTDi2317
DisGeNETi2317
EuPathDBiHostDB:ENSG00000136068.14
GeneCardsiFLNB
GeneReviewsiFLNB
H-InvDBiHIX0003397
HGNCiHGNC:3755 FLNB
HPAiCAB019322
HPA004747
HPA004886
MalaCardsiFLNB
MIMi108720 phenotype
108721 phenotype
112310 phenotype
150250 phenotype
272460 phenotype
603381 gene
neXtProtiNX_O75369
OpenTargetsiENSG00000136068
Orphaneti1190 Atelosteogenesis type I
56305 Atelosteogenesis type III
503 Autosomal dominant Larsen syndrome
1263 Boomerang dysplasia
3275 Spondylocarpotarsal synostosis
PharmGKBiPA28173
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0518 Eukaryota
COG5069 LUCA
GeneTreeiENSGT00900000140842
HOGENOMiHOG000044235
HOVERGENiHBG004163
InParanoidiO75369
KOiK04437
OMAiGTYDIFY
OrthoDBiEOG091G00U5
PhylomeDBiO75369
TreeFamiTF313685

Enzyme and pathway databases

ReactomeiR-HSA-1169408 ISG15 antiviral mechanism
SignaLinkiO75369

Miscellaneous databases

ChiTaRSiFLNB human
EvolutionaryTraceiO75369
GeneWikiiFLNB
GenomeRNAii2317
PROiPR:O75369
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000136068 Expressed in 228 organ(s), highest expression level in tibial nerve
ExpressionAtlasiO75369 baseline and differential
GenevisibleiO75369 HS

Family and domain databases

CDDicd00014 CH, 2 hits
Gene3Di1.10.418.10, 2 hits
2.60.40.10, 24 hits
InterProiView protein in InterPro
IPR001589 Actinin_actin-bd_CS
IPR001715 CH-domain
IPR036872 CH_dom_sf
IPR017868 Filamin/ABP280_repeat-like
IPR001298 Filamin/ABP280_rpt
IPR029874 FLNB
IPR013783 Ig-like_fold
IPR014756 Ig_E-set
PANTHERiPTHR43998:SF3 PTHR43998:SF3, 1 hit
PfamiView protein in Pfam
PF00307 CH, 2 hits
PF00630 Filamin, 23 hits
SMARTiView protein in SMART
SM00033 CH, 2 hits
SM00557 IG_FLMN, 24 hits
SUPFAMiSSF47576 SSF47576, 1 hit
SSF81296 SSF81296, 24 hits
PROSITEiView protein in PROSITE
PS00019 ACTININ_1, 1 hit
PS00020 ACTININ_2, 1 hit
PS50021 CH, 2 hits
PS50194 FILAMIN_REPEAT, 24 hits
ProtoNetiSearch...

Entry informationi

Entry nameiFLNB_HUMAN
AccessioniPrimary (citable) accession number: O75369
Secondary accession number(s): B2ZZ83
, B2ZZ84, B2ZZ85, C9JKE6, C9JMC4, Q13706, Q59EC2, Q60FE7, Q6MZJ1, Q8WXS9, Q8WXT0, Q8WXT1, Q8WXT2, Q8WXT3, Q9NRB5, Q9NT26, Q9UEV9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 7, 2003
Last sequence update: May 18, 2010
Last modified: October 10, 2018
This is version 205 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. SIMILARITY comments
    Index of protein domains and families
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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