FLNB - filamin B Gene

Homo sapiens

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

Gene ID: 2317 | Gene type: protein coding

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

FLNB Protein Structure

Filamin

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

Protein Preferred Names

Protein Names

filamin-B

ABP-280 homolog

Related Diseases

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04980	FLNB Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	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