FLNB - filamin B Gene

Also Known as AOI; FH1; SCT; TAP; LRS1; TABP; FLN-B; FLN1L; ABP-278; ABP-280

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 2317

About FLNB

Cytogenetic location: 3p14.3 Genomic coordinates (GRCh38): 3:58,008,422-58,172,251 (from NCBI)

This gene has 28 transcripts (splice variants), 207 orthologues, 36 paralogues and is associated with 15 phenotypes. Ubiquitous expression in colon (RPKM 41.4), prostate (RPKM 35.6) and 25 other tissues.

Summary

This gene encodes a member of the filamin family. The encoded protein interacts with glycoprotein Ib alpha as part of the process to repair vascular injuries. The platelet glycoprotein Ib complex includes glycoprotein Ib alpha, and it binds the actin Cytoskeleton. Mutations in this gene have been found in several conditions: atelosteogenesis type 1 and type 3; boomerang dysplasia; autosomal dominant Larsen syndrome; and spondylocarpotarsal synostosis syndrome. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Nov 2009]

FLNB Products (4)

mRNA	Protein	Name
NM_001164317.2	NP_001157789.1	filamin-B isoform 1
NM_001164318.2	NP_001157790.1	filamin-B isoform 3
NM_001164319.2	NP_001157791.1	filamin-B isoform 4
NM_001457.4	NP_001448.2	filamin-B isoform 2

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	参考文献	由来
enables identical protein binding	IPI IPI: Inferred from physical interaction	12393796	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10644691	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

FLNB Protein Structure

Filamin

0
400
800
1200
1600
2000
2400
2602 a.a.

Protein Preferred Names	Protein Names
filamin-B	ABP-280 homolog

FLNB Protein-protein interaction Information

Type	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
Intra	FLNB	O75369	FLNA	Homo sapiens	P21333	Y2H	12393796
Intra	FLNB	O75369	FLNA	Homo sapiens	P21333	IF	12393796
Intra	FLNB	O75369	FLNA	Homo sapiens	P21333	Anti Bait CoIP	12393796
Intra	FLNB	O75369	ISG15	Homo sapiens	P05161	Pull Down	19270716
Intra	FLNB	O75369	GRB2	Homo sapiens	P62993	Peptide Array	17474147
Intra	FLNB	O75369	RAC1	Homo sapiens	P63000	Pull Down	19270716
Intra	FLNB	O75369	MAP3K4	Homo sapiens	Q9Y6R4	Pull Down	19270716
Intra	FLNB	O75369	MAP3K1	Homo sapiens	Q13233	Pull Down	19270716

Cross: Cross-species interaction Intra: Intraspecies interaction

FLNB 抗体

製品番号	製品名	アプリケーション	反応性
HY-P82845	Phospho-Filamin A/B (Ser2152/Ser2107) Antibody (YA2590)	WB, IHC-F, IHC-P, ICC/IF	Human, Rat
HY-P82845A	Phospho-Filamin A/B (Ser2152/Ser2107) Antibody (YA2590)(PBS only)	WB, IHC-F, IHC-P, ICC/IF	Human, Rat

関連疾患

Diseases	Alias
Larsen Syndrome	LRS Larsen Syndrome, Dominant Type Dominant Larsen Syndrome Autosomal Dominant Larsen Syndrome Larsens Syndrome
Boomerang Dysplasia	BOOMD Boomerang-Like Skeletal Dysplasia Dwarfism With Short, Bowed, Rigid Limbs And Characteristic Facies Piepkorn Dysplasia Dysplasia, Boomerang
Atelosteogenesis, Type Iii	Aoiii Atelosteogenesis Type Iii AO3 Atelosteogenesis Type 3 Atelosteogenesis 3
Atelosteogenesis, Type I	Aoi Atelosteogenesis Type I Giant Cell Chondrodysplasia Spondylohumerofemoral Hypoplasia AO1 Atelosteogenesis Type 1 Infantile Apnea Apnea Of Infancy Spondylo-Humero-Femoral Dysplasia Apnea In Full-Term Infants Atelosteogenesis 1 Atelosteogenesis, Type 1 Infant Apnea
Spondylocarpotarsal Synostosis Syndrome	SCT Spondylocarpotarsal Syndrome Vertebral Fusion With Carpal Coalition Congenital Scoliosis With Unilateral Unsegmented Bar Congenital Synspondylism Spondylocarpotarsal Synostosis Synspondylism, Congenital Scoliosis, Congenital, With Unilateral Unsegmented Bar Scoliosis, Congenital With Unilateral Unsegmented Bar Synspondylism Congenital Sct Syndrome Synspondylism
Atelosteogenesis	Atelosteogenesis, Type 1
Synostosis
Osteochondrodysplasia	Skeletal Dysplasia Chondrodystrophy Congenital Anomaly Of Cartilage Osteochondrodysplasias Cartilage Development Disorder Osteochondrodysplasia Syndrome Dysplasia, Skeletal Mucopolysaccharidosis Iv
Lethal Chondrodysplasia
Connective Tissue Disease	Connective Tissue Diseases Connective Tissue Disorder Abnormality Of Connective Tissue Disorder Of Connective Tissue Connective Tissue Disorders
Cardiospondylocarpofacial Syndrome	Mitral Regurgitation, Conductive Deafness, And Fusion Of Cervical Vertebrae And Of Carpal And Tarsal Bones Forney Robinson Pascoe Syndrome CSCF Mitral Regurgitation, Conductive Deafness, And Fusion Of Cervical Vertebrae And Congenital Heart Disease, Deafness, And Skeletal Malformations Forney Syndrome Forney-Robinson-Pascoe Syndrome Mitral Regurgitation-Deafness-Skeletal Anomalies Syndrome Mitral Regurgitation-Hearing Loss-Skeletal Anomalies Syndrome
Periventricular Nodular Heterotopia	Periventricular Heterotopia Pvnh Familial Nodular Heterotopia Heterotopia, Periventricular Periventricular Heterotopia, X-Linked
Subacute Lymphocytic Thyroiditis
Melnick-Needles Syndrome	MNS Melnick-Needles Osteodysplasty Osteodysplasty Of Melnick And Needles Osteochondrodysplasias
Otopalatodigital Syndrome, Type Ii	Otopalatodigital Syndrome Type 2 Faciopalatoosseous Syndrome OPD2 Opd Ii Syndrome Opd Syndrome 2 Cranioorodigital Syndrome Fpo Oto-Palato-Digital Syndrome, Type Ii Andre Syndrome Oto-Palato-Digital Syndrome Type 2 Otopalatodigital Syndrome Type Ii Cranio-Oro-Digital Syndrome Opd 2 Syndrome Opd Syndrome, Type 2 Taybi Syndrome Otopalatodigital Syndrome 2 Oto-Palato-Digital Syndrome, Type 2 Oto-Palato-Digital Syndrome Type 1
Scoliosis
Otopalatodigital Syndrome Spectrum Disorder	Opd Spectrum Disorder Opsd Fronto-Otopalatodigital Osteodysplasia
Clubfoot	Congenital Talipes Equinovarus Congenital Clubfoot Congenital Equinovarus Equinovarus Deformity Of Foot Club Foot
Graves' Disease	Graves Disease Exophthalmic Goiter Basedow'S Disease Grave'S Disease Basedow Disease Toxic Diffuse Goiter Graves' Hyperthyroidism Parry Disease Autoimmune Hyperthyroidism Toxic Multinodular Goiter
Frontometaphyseal Dysplasia	Fmd Dysplasia, Frontometaphyseal
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Spondyloepiphyseal Dysplasia Chst3-Related Skeletal Dysplasia Humerospinal Dysostosis Spondyloepiphyseal Dysplasia, Omani Type Chondrodysplasia With Multiple Dislocations SEDCJD Hsd Cdmd Humero-Spinal Dysostosis Kozlowski Celermajer Tink Syndrome Chondrodysplasia With Congenital Joint Dislocations, Chst3 Type Larsen Syndrome, Recessive Type Humero-Spinal Dysostosis With Congenital Heart Disease Omani Type Sed Chst3 Deficiency Chst3-Related Dysplasia Recessive Larsen Syndrome Autosomal Recessive Larsen Syndrome Sed With Luxations, Chst3 Type Sed, Omani Type Sdcd, Chst3 Type Spondyloepiphyseal Dysplasia With Congenital Joint Dyslocations, Chst3 Type Sed Omani Type Spondyloepiphyseal Dysplasia Omani Type Larsen Syndrome, Autosomal Recessive Mucopolysaccharidosis Iv Spondyloepiphyseal Dysplasia, Congenita
Myopathy, Myofibrillar, 5	Myofibrillar Myopathy 5 MFM5 Myopathy, Myofibrillar, Filamin C-Related Filaminopathy, Autosomal Dominant Filaminopathy Muscle Filaminopathy Autosomal Dominant Filaminopathy Mfm Filamin C-Related Myopathy Myofibrillar Filamin C-Related Myopathy, Myofibrillar, Type 5
Shox-Related Short Stature	Idiopathic Familial Short Stature
Gonadal Dysgenesis	Gonadal Dysgenesis Syndrome Turner Syndrome
Terminal Osseous Dysplasia	Terminal Osseous Dysplasia And Pigmentary Defects Terminal Osseous Dysplasia-Pigmentary Defects Syndrome Todpd TOD Odpd Odpf Syndrome Osseous Dysplasia, Digital, With Facial Pigmentary Defects And Multiple Frenula Odpf Digital Osseous Dysplasia With Facial Pigmentary Defects And Multiple Frenula Terminal Osseous Dysplasia With Pigmentary Defects Dcd Digitocutaneous Dysplasia Terminal Osseous Dysplasia And Pigmentary Defect Syndrome Osseous Dysplasia And Pigmentary Defects
Otopalatodigital Syndrome, Type I	Otopalatodigital Syndrome Type 1 Taybi Syndrome OPD1 Opd Syndrome 1 Oto-Palato-Digital Syndrome Type 1 Opd I Syndrome Oto-Palato-Digital Syndrome, Type I Otopalatodigital Syndrome Type I Opd Syndrome Cranioorodigital Syndrome Faciopalatoosseous Syndrome Fpo Opd Syndrome, Type 1 Otopalatodigital Syndrome 1
Heel Spur	Calcaneal Spur
Bone Disease	Bone Diseases Skeletal Disease Skeletal Disorder Disorder Of Skeletal System
Scheuermann Disease	Scheuermann'S Disease Spinal Osteochondrosis Juvenile Osteochondrosis Of Spine Familial Scheuermann Disease Familial Scheuermann Juvenile Kyphosis Familial Spinal Osteochondrosis Scheuermann Juvenile Kyphosis Juvenile Osteochondritis Of The Spine Juvenile Osteochondrosis Of Scheurermann Scheuermann'S Kyphosis Sherman'S Disease Juvenile Kyphosis Scheuermann Kyphosis [X]Spinal Osteochondrosis, Unspecified
Treacher Collins Syndrome 1	Treacher Collins Syndrome Mandibulofacial Dysostosis Treacher Collins-Franceschetti Syndrome Tcof Tcs Mfd1 Franceschetti-Klein Syndrome TCS1 Franceschetti Syndrome Franceschetti-Zwahlen-Klein Syndrome Zygoauromandibular Dysplasia Treacher-Collins Syndrome Mandibulofacial Dysostosis Without Limb Anomalies Bilateral And Symmetric Oto-Mandibular Dysplasia
Type 1 Diabetes Mellitus	Diabetes Mellitus, Insulin-Dependent Diabetes Mellitus Type 1 IDDM Type 1 Diabetes Insulin-Dependent Diabetes Mellitus T1D Juvenile-Onset Diabetes Jod Diabetes Mellitus, Type 1 Diabetes Mellitus, Insulin-Dependent-1 Type I Diabetes Mellitus Autoimmune Diabetes Juvenile Diabetes Juvenile-Onset Diabetes Mellitus Diabetes, Insulin Dependent Insulin-Dependent Diabetes Mellitus-1 Diabetes Mellitus Insulin-Dependent Diabetes Autoimmune Diabetes Mellitus, Insulin-Dependent, Susceptibility To Diabetes Mellitus, Type 1, Susceptibility To Diabetes Type 1 Type I Diabetes Diabetes, Autoimmune T1dm - [Type 1 Diabetes Mellitus] Iddm - [Insulin Dependent Diabetes Mellitus] Type 1 Iddm Juvenile Diabetes Mellitus Without Compications Idiopathic Insulin-Dependent Diabetes Mellitus Without Complications Juvenile-Onset Diabetes Mellitus Without Compications Ketosis-Prone Diabetes Mellitus Without Compications Juvenile-Onset-Type Diabetes Mellitus Without Compications
Chronic Kidney Disease	Chronic Renal Disease Chronic Kidney Failure Ckd Chronic Renal Failure Kidney Failure, Chronic Chronic Renal Failure Syndrome Crf Renal Failure - Chronic Renal Failure Chronic Chronic Kidney Diseases Chronic Kidney Disease Stage 5 Ckd - [Chronic Kidney Disease] Crf - [Chronic Renal Failure] Chronic Kidney Impairment Chronic Renal Impairment Chronic Kidney Shutdown Chronic Hypoxic Kidney Failure Chronic Kidney Collapse Chronic Renal Insufficiency Chronic Kidney Toxaemia Chronic Kidney Hypofunction Chronic Renal Suppression Chronic Renal Failure, Stage 5 Ckd - [Chronic Kidney Disease] Stage 5 End Stage Kidney Failure End Stage Renal Failure End Stage Kidney Disease End Stage Renal Disease End Stage Chronic Renal Failure Esrf - [End Stage Renal Failure] Esrd - [End Stage Renal Diseases] Egfr - [Estimated Glomerular Filtration Rate] < 15 Ml/Min/1.73m²
Osteogenesis Imperfecta, Type Ii	Vrolik Type Of Osteogenesis Imperfecta Osteogenesis Imperfecta Type 2 OI2 Oi, Type Ii Osteogenesis Imperfecta Congenita Oic Osteogenesis Imperfecta Type Ii Lethal Osteogenesis Imperfecta Oi Type 2 Osteogenesis Imperfecta Congenita Perinatal Lethal Form Osteogenesis Imperfecta Congenita, Perinatal Lethal Form Perinatal Lethal Osteogenesis Imperfecta Congenita Perinatally Lethal Oi Osteogenesis Imperfecta 2 Oi-Ii Oi-Iia Oi Type Iia Osteogenesis Imperfecta Type Iia Osteogenesis Imperfecta Type Ii Autosomal Dominant Oi Type Ii Osteogenesis Imperfecta, Dominant Perinatal Lethal
Bone Development Disease
Myofibrillar Myopathy	Desmin Related Myopathy Myotilinopathy Myopathy, Myofibrillar Alpha Beta Crystallinopathy Desmin Storage Myopathy Desminopathy Filaminopathy Protein Surplus Myopathy Zaspopathy Myofibrillar Myopathies Myopathy, Myofibrillar, Desmin-Related Myopathy, Desmin Storage Mfm - [Myofibrillar Myopathy]
Cleft Palate, Isolated	Cleft Palate Isolated Cleft Palate CPI Cp Palatoschisis Cleft Palate Isolated Uranostaphyloschisis Congenital Fissure Of Palate Cleft Of Secondary Palate
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS04980	FLNB Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19898	Flnb Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26399	Flnb Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	ID
Macaca mulatta	FLNB	VGNC	VGNC:72672
Rattus norvegicus	FLNB	RGD	RGD:1311915
Canis familiaris	FLNB	VGNC	VGNC:40901
Bos taurus	FLNB	VGNC	VGNC:29034
Mus musculus	FLNB	MGD	MGI:2446089
Felis catus	FLNB	VGNC	VGNC:62292
Others	FLNB	NCBI